#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
DNAH8	1769	broad.mit.edu	37	6	38891794	38891794	+	Silent	SNP	G	G	A	rs79890174	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:38891794G>A	ENST00000359357.3	+	71	10421	c.10167G>A	c.(10165-10167)acG>acA	p.T3389T	DNAH8_ENST00000449981.2_Silent_p.T3606T|DNAH8_ENST00000441566.1_Silent_p.T3353T|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3389					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCTGTGCACGGGATTCCTTT	0.423													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0					ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10165-10167)acG>acA		dynein, axonemal, heavy chain 8		G		18,4388	25.3+/-52.1	0,18,2185	232.0	215.0	221.0		10818	-12.1	0.1	6	dbSNP_132	221	0,8600		0,0,4300	no	coding-synonymous	DNAH8	NM_001206927.1		0,18,6485	AA,AG,GG		0.0,0.4085,0.1384		3606/4708	38891794	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38891794G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10167G>A	6.37:g.38891794G>A						DNAH8_ENST00000449981.2_Silent_p.T3606T|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.T3353T	p.T3389T							71	10421	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.10167G>A																																																																																					0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	235	0	0	0	1	0	6	235				
MYO1F	4542	broad.mit.edu	37	19	8587611	8587611	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:8587611G>A	ENST00000338257.8	-	26	3224	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	986				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058). {ECO:0000305}.	defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAGGGATGTGGACGGAGGGCC	0.687																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2956-2958)tCc>tTc		myosin IF							18.0	21.0	20.0					19																	8587611		1897	4109	6006	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8587611G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2957C>T	19.37:g.8587611G>A	ENSP00000344871:p.Ser986Phe						p.S986F	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			26	3224	-			986	IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058).				Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2957C>T	CCDS42494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.214|8.214	0.800946|0.800946	0.16397|0.16397	.|.	.|.	ENSG00000142347|ENSG00000142347	ENST00000305795|ENST00000338257	.|D	.|0.87729	.|-2.29	5.27|5.27	4.24|4.24	0.50183|0.50183	.|.	0.076427|.	0.53938|.	D|.	0.000051|.	T|T	0.81837|0.81837	0.4907|0.4907	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B	.|0.20671	.|0.047	.|B	.|0.21546	.|0.035	T|T	0.72427|0.72427	-0.4297|-0.4297	7|9	0.33940|0.54805	T|T	0.23|0.06	.|.	7.6751|7.6751	0.28481|0.28481	0.0839:0.0:0.7538:0.1623|0.0839:0.0:0.7538:0.1623	.|.	.|986	.|O00160	.|MYO1F_HUMAN	S|F	1030|986	.|ENSP00000344871:S986F	ENSP00000304899:P1030S|ENSP00000344871:S986F	P|S	-|-	1|2	0|0	MYO1F|MYO1F	8493611|8493611	0.902000|0.902000	0.30710|0.30710	0.012000|0.012000	0.15200|0.15200	0.232000|0.232000	0.25224|0.25224	3.206000|3.206000	0.51098|0.51098	1.230000|1.230000	0.43646|0.43646	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.687	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			20	25	0	0	0	1	0	20	25				
GPR101	83550	broad.mit.edu	37	X	136113803	136113803	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:136113803C>T	ENST00000298110.1	-	1	30	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTGTTACTCTCGCGCGTGCTG	0.632																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(31-33)Gag>Aag		G protein-coupled receptor 101							94.0	53.0	67.0					X																	136113803		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113803C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.31G>A	X.37:g.136113803C>T	ENSP00000298110:p.Glu11Lys						p.E11K	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	30	-	Acute lymphoblastic leukemia(192;0.000127)		11					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.31G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362534	0.24684	.	.	ENSG00000165370	ENST00000298110	T	0.37752	1.18	4.79	3.84	0.44239	.	.	.	.	.	T	0.19725	0.0474	N	0.24115	0.695	0.09310	N	1	B	0.32071	0.355	B	0.17722	0.019	T	0.13522	-1.0506	9	0.15499	T	0.54	-4.2951	9.0176	0.36179	0.0:0.8738:0.0:0.1262	.	11	Q96P66	GP101_HUMAN	K	11	ENSP00000298110:E11K	ENSP00000298110:E11K	E	-	1	0	GPR101	135941469	0.003000	0.15002	0.005000	0.12908	0.506000	0.33950	1.526000	0.35964	0.805000	0.34159	0.544000	0.68410	GAG		0.632	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			41	87	0	0	0	1	0	41	87				
ZNF254	9534	broad.mit.edu	37	19	24310731	24310731	+	Silent	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:24310731G>A	ENST00000357002.4	+	4	2044	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	ZNF254_ENST00000342944.6_Silent_p.S558S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	643					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATCGGTCCTCGCACCTCACCA	0.373																																						ENST00000357002.4																			0											c.(1927-1929)tcG>tcA		zinc finger protein 254							82.0	86.0	85.0					19																	24310731		2203	4295	6498	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310731G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1929G>A	19.37:g.24310731G>A						ZNF254_ENST00000342944.6_Silent_p.S558S	p.S643S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	2044	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	643					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1929G>A	CCDS32983.1																																																																																				0.373	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		21	233	0	0	0	1	0	21	233				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	127	1	0	2.0095e-06	1	2.27391e-06	5	127				
IL6ST	3572	broad.mit.edu	37	5	55237255	55237255	+	Silent	SNP	G	G	A	rs200386892		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:55237255G>A	ENST00000381298.2	-	17	2724	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Silent_p.G743G|IL6ST_ENST00000336909.5_Silent_p.G804G|IL6ST_ENST00000502326.3_Silent_p.G804G|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	804					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TACCATCACCGCCATCTACAT	0.443			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2410-2412)ggC>ggT		interleukin 6 signal transducer (gp130, oncostatin M receptor)							93.0	95.0	94.0					5																	55237255		2203	4300	6503	SO:0001819	synonymous_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237255G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2412C>T	5.37:g.55237255G>A						IL6ST_ENST00000381294.3_Silent_p.G743G|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Silent_p.G804G|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.G804G|CTD-2031P19.5_ENST00000576302.1_RNA	p.G804G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2724	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	804					A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	c.2412C>T	CCDS3971.1																																																																																				0.443	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		5	251	0	0	0	1	0	5	251				
SIRPA	140885	broad.mit.edu	37	20	1902206	1902206	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr20:1902206T>C	ENST00000358771.4	+	3	754	c.602T>C	c.(601-603)gTa>gCa	p.V201A	SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	201	Ig-like C1-type 1.		VG -> AR.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTGGACCCCGTAGGAGAGAGC	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(601-603)gTa>gCa		signal-regulatory protein alpha							184.0	161.0	169.0					20																	1902206		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902206T>C	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.602T>C	20.37:g.1902206T>C	ENSP00000351621:p.Val201Ala					SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A|SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A	p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	754	+			201		VG -> AR.	Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.602T>C	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.399729	0.01165	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.00603	6.28;6.28;6.28	4.51	-3.63	0.04529	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.260270	0.01824	N	0.034250	T	0.00300	0.0009	N	0.02391	-0.57	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.44375	-0.9332	10	0.09338	T	0.73	.	3.967	0.09436	0.6183:0.1704:0.1094:0.102	.	181;201;201	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	201	ENSP00000382941:V201A;ENSP00000348307:V201A;ENSP00000351621:V201A	ENSP00000348307:V201A	V	+	2	0	SIRPA	1850206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.252000	0.02880	-0.348000	0.08286	-1.353000	0.01230	GTA		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	188	0	0	0	1	0	4	188				
EIF2AK4	440275	broad.mit.edu	37	15	40257951	40257951	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:40257951C>T	ENST00000263791.5	+	8	967	c.924C>T	c.(922-924)gtC>gtT	p.V308V	EIF2AK4_ENST00000382727.2_Silent_p.V308V|EIF2AK4_ENST00000559624.1_Silent_p.V308V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	308	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTGGCTTTGTCTTGTTGTATG	0.398																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(922-924)gtC>gtT		eukaryotic translation initiation factor 2 alpha kinase 4							158.0	153.0	154.0					15																	40257951		1898	4140	6038	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40257951C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.924C>T	15.37:g.40257951C>T						EIF2AK4_ENST00000559624.1_Silent_p.V308V|EIF2AK4_ENST00000382727.2_Silent_p.V308V	p.V308V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	8	967	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	308			Protein kinase 1.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.924C>T	CCDS42016.1																																																																																				0.398	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			101	110	0	0	0	1	0	101	110				
EMD	2010	broad.mit.edu	37	X	153608123	153608123	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:153608123C>T	ENST00000369842.4	+	2	444	c.156C>T	c.(154-156)agC>agT	p.S52S	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Intron	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	52	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCCCCCAGCTCGTCCGCCG	0.672																																						ENST00000369842.4																			0				lung(5)	5						c.(154-156)agC>agT		emerin							16.0	22.0	20.0					X																	153608123		2083	4067	6150	SO:0001819	synonymous_variant	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608123C>T	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.156C>T	X.37:g.153608123C>T						EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	p.S52S	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			2	444	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		52			Interaction with F-actin (Probable).		Q6FI02	Silent	SNP	ENST00000369842.4	37	c.156C>T	CCDS14745.1																																																																																				0.672	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			61	85	0	0	0	1	0	61	85				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		4	215	0	0	0	1	0	4	215				
DNAH10	196385	broad.mit.edu	37	12	124297882	124297882	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr12:124297882A>G	ENST00000409039.3	+	19	2987	c.2962A>G	c.(2962-2964)Aag>Gag	p.K988E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	988	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAATCTTATGAAGTATCTACA	0.373																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2962-2964)Aag>Gag		dynein, axonemal, heavy chain 10							120.0	118.0	119.0					12																	124297882		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124297882A>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2962A>G	12.37:g.124297882A>G	ENSP00000386770:p.Lys988Glu						p.K988E	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	2987	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		988			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2962A>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088548	0.36855	.	.	ENSG00000197653	ENST00000409039	T	0.20598	2.06	5.83	5.83	0.93111	.	0.079324	0.50627	D	0.000102	T	0.23766	0.0575	M	0.75777	2.31	0.31471	N	0.668327	P;B;B	0.36330	0.548;0.248;0.047	B;B;B	0.38264	0.269;0.133;0.04	T	0.20638	-1.0269	10	0.05721	T	0.95	.	12.0372	0.53431	0.9313:0.0:0.0687:0.0	.	988;863;988	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	E	988	ENSP00000386770:K988E	ENSP00000386770:K988E	K	+	1	0	DNAH10	122863835	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	4.468000	0.60162	2.231000	0.72958	0.460000	0.39030	AAG		0.373	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	240	0	0	0	1	0	4	240				
ACP1	52	broad.mit.edu	37	2	277249	277249	+	Missense_Mutation	SNP	C	C	T	rs375641056		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:277249C>T	ENST00000272065.5	+	6	515	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ACP1_ENST00000272067.6_Missense_Mutation_p.T141M|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	141						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	GACTTTGAGACGGTGTACCAG	0.498																																						ENST00000272067.6																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(421-423)aCg>aTg		acid phosphatase 1, soluble		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	150.0	145.0	147.0		422,422	2.5	0.4	2		147	0,8600		0,0,4300	no	missense,missense	ACP1	NM_007099.3,NM_004300.3	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	141/159,141/159	277249	1,13005	2203	4300	6503	SO:0001583	missense	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:277249C>T	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.422C>T	2.37:g.277249C>T	ENSP00000272065:p.Thr141Met					ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272065.5_Missense_Mutation_p.T141M	p.T141M	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	6	518	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	141					A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	c.422C>T	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312794	0.40895	2.27E-4	0.0	ENSG00000143727	ENST00000272067;ENST00000272065	T;T	0.31247	1.5;1.5	5.62	2.52	0.30459	Phosphotyrosine protein phosphatase I superfamily (3);	0.583132	0.18528	N	0.138564	T	0.26340	0.0643	M	0.61703	1.905	0.58432	D	0.999999	B;B	0.25272	0.027;0.122	B;B	0.23852	0.019;0.049	T	0.07028	-1.0794	10	0.45353	T	0.12	-0.0354	3.6535	0.08212	0.1666:0.5706:0.1613:0.1014	.	141;141	P24666-2;P24666	.;PPAC_HUMAN	M	141	ENSP00000272067:T141M;ENSP00000272065:T141M	ENSP00000272065:T141M	T	+	2	0	ACP1	267249	0.962000	0.33011	0.447000	0.26932	0.946000	0.59487	1.301000	0.33447	0.162000	0.19483	-0.165000	0.13383	ACG		0.498	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			76	106	0	0	0	1	0	76	106				
MARCH5	54708	broad.mit.edu	37	10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGCACACCGCAAAATTCTG	0.353																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(799-801)cGc>cAc		membrane-associated ring finger (C3HC4) 5							82.0	78.0	79.0					10																	94110927		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94110927G>A	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.800G>A	10.37:g.94110927G>A	ENSP00000351813:p.Arg267His						p.R267H	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			6	1132	+			267						Missense_Mutation	SNP	ENST00000358935.2	37	c.800G>A	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627017	0.87560	.	.	ENSG00000198060	ENST00000358935	T	0.70986	-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88657	0.3186	10	0.87932	D	0	-4.1613	19.6604	0.95864	0.0:0.0:1.0:0.0	.	267	Q9NX47	MARH5_HUMAN	H	267	ENSP00000351813:R267H	ENSP00000351813:R267H	R	+	2	0	MARCH5	94100907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	CGC		0.353	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		4	210	0	0	0	1	0	4	210				
IGFBP1	3484	broad.mit.edu	37	7	45930166	45930166	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:45930166C>T	ENST00000275525.3	+	2	665	c.369C>T	c.(367-369)agC>agT	p.S123S	IGFBP1_ENST00000457280.1_Silent_p.S123S|IGFBP1_ENST00000468955.1_Silent_p.S123S	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	123					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						GCCCTGAAAGCCCAGAGAGCA	0.552																																						ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(367-369)agC>agT		insulin-like growth factor binding protein 1							88.0	91.0	90.0					7																	45930166		2203	4300	6503	SO:0001819	synonymous_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45930166C>T		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.369C>T	7.37:g.45930166C>T						IGFBP1_ENST00000468955.1_Silent_p.S123S|IGFBP1_ENST00000457280.1_Silent_p.S123S	p.S123S	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN			2	665	+			123					A4D2F4|D3DVL9|Q8IYP5	Silent	SNP	ENST00000275525.3	37	c.369C>T	CCDS5504.1																																																																																				0.552	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		4	121	0	0	0	1	0	4	121				
CDX4	1046	broad.mit.edu	37	X	72667179	72667179	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:72667179C>T	ENST00000373514.2	+	1	90	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	30					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGACAGGCGGCACAGGGG	0.607																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(88-90)ggC>ggT		caudal type homeobox 4							31.0	31.0	31.0					X																	72667179		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667179C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.90C>T	X.37:g.72667179C>T							p.G30G	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	90	+	Renal(35;0.156)		30					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.90C>T	CCDS14424.1																																																																																				0.607	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		41	52	0	0	0	1	0	41	52				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	49	0	0	0	1	0	7	49				
DDC	1644	broad.mit.edu	37	7	50595897	50595897	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:50595897G>A	ENST00000444124.2	-	6	852	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	DDC_ENST00000380984.4_Missense_Mutation_p.R218C|DDC_ENST00000426377.1_Missense_Mutation_p.R140C|DDC_ENST00000431062.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.R218C	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	218					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCAGACGCACGCATGGCGAAG	0.532																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(652-654)Cgt>Tgt		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						100.0	98.0	98.0					7																	50595897		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595897G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.652C>T	7.37:g.50595897G>A	ENSP00000403644:p.Arg218Cys					DDC_ENST00000426377.1_Missense_Mutation_p.R140C|DDC_ENST00000357936.5_Missense_Mutation_p.R218C|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.R218C|DDC_ENST00000431062.1_Intron	p.R218C	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			6	852	-	Glioma(55;0.08)|all_neural(89;0.245)		218					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.652C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398572	0.62177	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	6.06	4.2	0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.102551	0.64402	D	0.000006	T	0.55545	0.1927	M	0.86651	2.83	0.58432	D	0.999999	P;P	0.42456	0.78;0.78	P;P	0.44860	0.462;0.462	T	0.63769	-0.6562	10	0.66056	D	0.02	-7.8105	14.373	0.66854	0.0:0.0:0.7221:0.2779	.	218;218	Q53Y41;P20711	.;DDC_HUMAN	C	218;140;218;218	ENSP00000350616:R218C;ENSP00000395069:R140C;ENSP00000403644:R218C;ENSP00000370371:R218C	ENSP00000350616:R218C	R	-	1	0	DDC	50563391	1.000000	0.71417	0.906000	0.35671	0.564000	0.35744	1.378000	0.34328	0.826000	0.34661	0.650000	0.86243	CGT		0.532	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			4	158	0	0	0	1	0	4	158				
C1QL2	165257	broad.mit.edu	37	2	119914554	119914554	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:119914554G>A	ENST00000272520.3	-	2	1307	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	230	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GCGCTGGCCCGGACCTGGGGA	0.657										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(688-690)Cgg>Tgg		complement component 1, q subcomponent-like 2							105.0	111.0	109.0					2																	119914554		2203	4300	6503	SO:0001583	missense	165257					collagen		g.chr2:119914554G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.688C>T	2.37:g.119914554G>A	ENSP00000272520:p.Arg230Trp	HNSCC(49;0.14)					p.R230W	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			2	1307	-			230			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.688C>T	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926622	0.92319	.	.	ENSG00000144119	ENST00000272520	T	0.75821	-0.97	4.95	4.95	0.65309	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.172465	0.39341	N	0.001398	D	0.87838	0.6278	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89615	0.3844	9	.	.	.	.	17.1927	0.86885	0.0:0.0:1.0:0.0	.	230	Q7Z5L3	C1QL2_HUMAN	W	230	ENSP00000272520:R230W	.	R	-	1	2	C1QL2	119631024	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	6.641000	0.74324	2.283000	0.76528	0.561000	0.74099	CGG		0.657	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		4	215	0	0	0	1	0	4	215				
DNAH7	56171	broad.mit.edu	37	2	196788467	196788467	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:196788467C>T	ENST00000312428.6	-	23	3777	c.3677G>A	c.(3676-3678)gGc>gAc	p.G1226D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1226	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGACAATTTGCCACGCACCAA	0.383																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3676-3678)gGc>gAc		dynein, axonemal, heavy chain 7							115.0	106.0	108.0					2																	196788467		1965	4161	6126	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788467C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3677G>A	2.37:g.196788467C>T	ENSP00000311273:p.Gly1226Asp						p.G1226D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3777	-			1226			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.3677G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646716	0.67358	.	.	ENSG00000118997	ENST00000312428	T	0.64085	-0.08	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86697	0.1927	10	0.66056	D	0.02	.	18.8774	0.92343	0.0:1.0:0.0:0.0	.	1226	Q8WXX0	DYH7_HUMAN	D	1226	ENSP00000311273:G1226D	ENSP00000311273:G1226D	G	-	2	0	DNAH7	196496712	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	5.715000	0.68430	2.530000	0.85305	0.655000	0.94253	GGC		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	151	0	0	0	1	0	4	151				
CAB39	51719	broad.mit.edu	37	2	231682512	231682512	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:231682512T>C	ENST00000258418.5	+	8	1166	c.737T>C	c.(736-738)aTg>aCg	p.M246T	CAB39_ENST00000410084.3_Missense_Mutation_p.M246T|CAB39_ENST00000409788.3_Missense_Mutation_p.M246T	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	246					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTCACAATTATGACAAAATAC	0.343																																						ENST00000258418.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(736-738)aTg>aCg		calcium binding protein 39							95.0	96.0	96.0					2																	231682512		2203	4300	6503	SO:0001583	missense	51719				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding	g.chr2:231682512T>C	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.737T>C	2.37:g.231682512T>C	ENSP00000258418:p.Met246Thr					CAB39_ENST00000409788.3_Missense_Mutation_p.M246T|CAB39_ENST00000410084.3_Missense_Mutation_p.M246T	p.M246T	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	8	1166	+		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)	246					A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	37	c.737T>C	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098665	0.76870	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.34859	1.34;1.34;1.34	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	H	0.96301	3.8	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.80705	-0.1263	10	0.87932	D	0	.	13.2384	0.59983	0.0:0.0:0.0:1.0	.	246	Q9Y376	CAB39_HUMAN	T	246	ENSP00000258418:M246T;ENSP00000386238:M246T;ENSP00000386642:M246T	ENSP00000258418:M246T	M	+	2	0	CAB39	231390756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.012000	0.59069	0.533000	0.62120	ATG		0.343	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		93	101	0	0	0	1	0	93	101				
TECTB	6975	broad.mit.edu	37	10	114057887	114057887	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr10:114057887C>T	ENST00000369422.3	+	7	732	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	244	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGGCAACCTTCCAATTCAATG	0.522																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(730-732)ttC>ttT		tectorin beta							149.0	136.0	140.0					10																	114057887		2203	4300	6503	SO:0001819	synonymous_variant	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114057887C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.732C>T	10.37:g.114057887C>T							p.F244F	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	7	732	+		Colorectal(252;0.198)	244			ZP.		Q5VW53	Silent	SNP	ENST00000369422.3	37	c.732C>T	CCDS7571.1																																																																																				0.522	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		40	63	0	0	0	1	0	40	63				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_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	84	0	0	0	1	0	66	84				
SEC22C	9117	broad.mit.edu	37	3	42594904	42594904	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr3:42594904T>C	ENST00000264454.3	-	7	891	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000273156.7_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000423701.2_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		ACCACCTTCATAGTCCTGGCT	0.448																																						ENST00000264454.3																			0				endometrium(1)|large_intestine(2)	3						c.(748-750)Atg>Gtg		SEC22 vesicle trafficking protein homolog C (S. cerevisiae)							91.0	90.0	91.0					3																	42594904		2203	4300	6503	SO:0001583	missense	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42594904T>C	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.748A>G	3.37:g.42594904T>C	ENSP00000264454:p.Met250Val					SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000273156.7_Intron	p.M250V			Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	7	891	-			250					O95152|Q68CX3|Q6UW18	Missense_Mutation	SNP	ENST00000264454.3	37	c.748A>G	CCDS2700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.038|0.038	-1.298895|-1.298895	0.01364|0.01364	.|.	.|.	ENSG00000093183|ENSG00000093183	ENST00000264454|ENST00000451653	T|.	0.15603|.	2.41|.	4.25|4.25	-8.5|-8.5	0.00927|0.00927	.|.	1.592710|.	0.03112|.	N|.	0.162543|.	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29119|0.29119	-1.0022|-1.0022	10|5	0.02654|.	T|.	1|.	-15.4498|-15.4498	5.2169|5.2169	0.15348|0.15348	0.0813:0.4238:0.3198:0.175|0.0813:0.4238:0.3198:0.175	.|.	250|.	Q9BRL7|.	SC22C_HUMAN|.	V|C	250|171	ENSP00000264454:M250V|.	ENSP00000264454:M250V|.	M|Y	-|-	1|2	0|0	SEC22C|SEC22C	42569908|42569908	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.974000|0.974000	0.67602|0.67602	-1.649000|-1.649000	0.01993|0.01993	-2.017000|-2.017000	0.00944|0.00944	-1.139000|-1.139000	0.01908|0.01908	ATG|TAT		0.448	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		31	49	0	0	0	1	0	31	49				
ASB9	140462	broad.mit.edu	37	X	15268608	15268608	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:15268608A>T	ENST00000380488.4	-	5	785	c.512T>A	c.(511-513)cTc>cAc	p.L171H	ASB9_ENST00000380483.3_Missense_Mutation_p.L161H|ASB9_ENST00000546332.1_Missense_Mutation_p.L171H|ASB9_ENST00000380485.3_Missense_Mutation_p.L171H|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	171					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCCAAATAGAGTGGAGTGCC	0.458																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(511-513)cTc>cAc		ankyrin repeat and SOCS box containing 9							94.0	88.0	90.0					X																	15268608		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15268608A>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.512T>A	X.37:g.15268608A>T	ENSP00000369855:p.Leu171His					ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.L161H|ASB9_ENST00000380485.3_Missense_Mutation_p.L171H|ASB9_ENST00000380488.4_Missense_Mutation_p.L171H	p.L171H	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			6	995	-	Hepatocellular(33;0.183)		171					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.512T>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884047	0.91814	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	D;D;D;D	0.91407	-2.84;-1.59;-1.59;-1.59	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	H	0.95982	3.75	0.30190	N	0.799564	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95153	0.8274	10	0.87932	D	0	-14.528	14.19	0.65633	1.0:0.0:0.0:0.0	.	142;161;171;171	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	H	161;171;171;171	ENSP00000369850:L161H;ENSP00000369852:L171H;ENSP00000369855:L171H;ENSP00000438943:L171H	ENSP00000369850:L161H	L	-	2	0	ASB9	15178529	0.998000	0.40836	0.003000	0.11579	0.837000	0.47467	7.188000	0.77739	1.949000	0.56562	0.430000	0.28490	CTC		0.458	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			9	246	0	0	0	1	0	9	246				
F8	2157	broad.mit.edu	37	X	154158011	154158011	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:154158011C>T	ENST00000360256.4	-	14	4254	c.4054G>A	c.(4054-4056)Gtg>Atg	p.V1352M		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1352	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTGTCATCCACAATTATCCTT	0.423																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4054-4056)Gtg>Atg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						252.0	209.0	224.0					X																	154158011		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158011C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4054G>A	X.37:g.154158011C>T	ENSP00000353393:p.Val1352Met						p.V1352M	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4254	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1352			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4054G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	9.125	1.009990	0.19277	.	.	ENSG00000185010	ENST00000360256	D	0.99098	-5.42	4.71	-3.72	0.04411	.	3.170210	0.01390	N	0.013230	D	0.96200	0.8761	L	0.40543	1.245	0.09310	N	1	B	0.32653	0.379	B	0.28305	0.088	D	0.92201	0.5768	10	0.48119	T	0.1	0.0743	1.3166	0.02108	0.2543:0.3854:0.1078:0.2525	.	1352	P00451	FA8_HUMAN	M	1352	ENSP00000353393:V1352M	ENSP00000353393:V1352M	V	-	1	0	F8	153811205	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.666000	0.05280	-1.809000	0.01232	-0.196000	0.12772	GTG		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			6	457	0	0	0	1	0	6	457				
LRBA	987	broad.mit.edu	37	4	151792590	151792590	+	Silent	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr4:151792590G>A	ENST00000357115.3	-	19	2517	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	LRBA_ENST00000507224.1_Silent_p.V758V|LRBA_ENST00000535741.1_Silent_p.V758V|LRBA_ENST00000510413.1_Silent_p.V758V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	758						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTCCAAGCATGACTTCTGCTT	0.373																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2272-2274)gtC>gtT		LPS-responsive vesicle trafficking, beach and anchor containing							150.0	144.0	146.0					4																	151792590		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151792590G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2274C>T	4.37:g.151792590G>A						LRBA_ENST00000357115.3_Silent_p.V758V|LRBA_ENST00000507224.1_Silent_p.V758V|LRBA_ENST00000510413.1_Silent_p.V758V	p.V758V			P50851	LRBA_HUMAN			19	2747	-	all_hematologic(180;0.151)		758					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.2274C>T	CCDS3773.1																																																																																				0.373	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			33	131	0	0	0	1	0	33	131				
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C	rs371763448	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr11:1265999T>C	ENST00000529681.1	+	31	7947	c.7889T>C	c.(7888-7890)cTt>cCt	p.L2630P	MUC5B_ENST00000447027.1_Missense_Mutation_p.L2633P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.L2630P(1)|p.L2609P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACGCACGCTTCCAGTGTGG	0.637													N|||	3	0.000599042	0.0	0.0014	5008	,	,		18926	0.001		0.001	False		,,,				2504	0.0					ENST00000447027.1																			2	Substitution - Missense(2)	p.L2630P(1)|p.L2609P(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7897-7899)cTt>cCt		mucin 5B, oligomeric mucus/gel-forming							149.0	179.0	169.0					11																	1265999		2124	4236	6360	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265999T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7889T>C	11.37:g.1265999T>C	ENSP00000436812:p.Leu2630Pro					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P	p.L2633P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7956	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2630	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7898T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	2.858	-0.236815	0.05944	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.24350	1.86;2.05	1.88	-3.77	0.04346	.	.	.	.	.	T	0.15262	0.0368	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.29822	-0.9999	9	0.87932	D	0	.	3.6655	0.08254	0.21:0.3112:0.0:0.4788	.	3268;2633	A7Y9J9;E9PBJ0	.;.	P	2630;2633;2602;2645;171	ENSP00000436812:L2630P;ENSP00000415793:L2633P	ENSP00000343037:L2602P	L	+	2	0	MUC5B	1222575	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.943000	0.03917	-0.876000	0.04017	0.172000	0.16884	CTT		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	147	0	0	0	1	0	4	147				
E2F4	1874	broad.mit.edu	37	16	67235520	67235520	+	IGR	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr16:67235520G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_Missense_Mutation_p.R185Q|ELMO3_ENST00000393997.2_Missense_Mutation_p.R351Q|ELMO3_ENST00000360833.1_Missense_Mutation_p.R334Q|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R351Q(2)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCGCGCATGCGGACGCCCCTG	0.587																																						ENST00000393997.2																			2	Substitution - Missense(2)	p.R351Q(2)	kidney(2)	cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(1051-1053)cGg>cAg		engulfment and cell motility 3							47.0	53.0	51.0					16																	67235520		2075	4223	6298	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67235520G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235520G>A						ELMO3_ENST00000360833.1_Missense_Mutation_p.R334Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R185Q	p.R351Q	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	10	1109	+		Ovarian(137;0.0563)	298			ELMO.		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.1052G>A	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	6.903	0.536253	0.13188	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.28666	1.6;1.6	5.31	3.35	0.38373	Engulfment/cell motility, ELMO (1);	0.255518	0.43416	N	0.000564	T	0.13286	0.0322	N	0.13235	0.315	0.43628	D	0.996011	P;P;P	0.39404	0.473;0.672;0.672	B;B;B	0.30495	0.115;0.116;0.116	T	0.09271	-1.0682	10	0.22706	T	0.39	-30.0339	8.404	0.32603	0.24:0.0:0.76:0.0	.	298;334;351	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	Q	334;351	ENSP00000354077:R334Q;ENSP00000377566:R351Q	ENSP00000354077:R334Q	R	+	2	0	ELMO3	65793021	1.000000	0.71417	0.850000	0.33497	0.001000	0.01503	1.321000	0.33678	1.243000	0.43853	-0.258000	0.10820	CGG		0.587	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		17	98	0	0	0	1	0	17	98				
MIER2	54531	broad.mit.edu	37	19	313566	313566	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:313566C>T	ENST00000264819.4	-	8	743	c.733G>A	c.(733-735)Gcg>Acg	p.A245T		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	245	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CGCTTCACCGCCCTGTACAGG	0.637																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(733-735)Gcg>Acg		mesoderm induction early response 1, family member 2							82.0	84.0	83.0					19																	313566		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:313566C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.733G>A	19.37:g.313566C>T	ENSP00000264819:p.Ala245Thr						p.A245T	NM_017550.1	NP_060020.1	Q8N344	MIER2_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)	8	743	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	245			ELM2.		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.733G>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353149	0.61293	.	.	ENSG00000105556	ENST00000264819	T	0.38240	1.15	4.9	4.9	0.64082	ELM2 domain (2);	0.000000	0.46442	D	0.000288	T	0.52661	0.1748	L	0.49350	1.555	0.58432	D	0.99999	D	0.56521	0.976	D	0.67231	0.95	T	0.44406	-0.9330	10	0.30078	T	0.28	-16.273	17.0503	0.86517	0.0:1.0:0.0:0.0	.	245	Q8N344	MIER2_HUMAN	T	245	ENSP00000264819:A245T	ENSP00000264819:A245T	A	-	1	0	MIER2	264566	1.000000	0.71417	0.190000	0.23270	0.456000	0.32438	6.627000	0.74258	2.295000	0.77249	0.306000	0.20318	GCG		0.637	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		15	192	0	0	0	1	0	15	192				
GFOD1	54438	broad.mit.edu	37	6	13365582	13365582	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:13365582C>T	ENST00000379287.3	-	2	1230	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GFOD1_ENST00000379284.1_Missense_Mutation_p.G86D	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	189						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCCTTTTGGCCGGTGAGGAA	0.602																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(565-567)gGc>gAc		glucose-fructose oxidoreductase domain containing 1							97.0	85.0	89.0					6																	13365582		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365582C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.566G>A	6.37:g.13365582C>T	ENSP00000368589:p.Gly189Asp					GFOD1_ENST00000379284.1_Missense_Mutation_p.G86D	p.G189D	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1230	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	189					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.566G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593530	0.66219	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.65364	-0.15;-0.15	5.36	5.36	0.76844	Oxidoreductase, C-terminal (1);	0.142661	0.64402	D	0.000005	T	0.55577	0.1929	M	0.76328	2.33	0.58432	D	0.999999	B	0.10296	0.003	B	0.20955	0.032	T	0.58781	-0.7576	10	0.59425	D	0.04	-38.9598	18.088	0.89463	0.0:1.0:0.0:0.0	.	189	Q9NXC2	GFOD1_HUMAN	D	189;86	ENSP00000368589:G189D;ENSP00000368586:G86D	ENSP00000368586:G86D	G	-	2	0	GFOD1	13473561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.506000	0.84524	0.557000	0.71058	GGC		0.602	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		4	50	0	0	0	1	0	4	50				
IKZF3	22806	broad.mit.edu	37	17	37922280	37922280	+	Silent	SNP	C	C	T	rs371505659		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr17:37922280C>T	ENST00000346872.3	-	8	1354	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	IKZF3_ENST00000377944.3_Silent_p.P288P|IKZF3_ENST00000535189.1_Silent_p.P397P|IKZF3_ENST00000467757.1_Silent_p.P375P|IKZF3_ENST00000350532.3_Silent_p.P392P|IKZF3_ENST00000394189.2_Silent_p.P249P|IKZF3_ENST00000377945.3_Silent_p.P297P|IKZF3_ENST00000377958.2_Silent_p.P344P|IKZF3_ENST00000439167.2_Silent_p.P358P|IKZF3_ENST00000583368.1_Silent_p.P184P|IKZF3_ENST00000377952.2_Silent_p.P210P|IKZF3_ENST00000351680.3_Silent_p.P392P|IKZF3_ENST00000346243.3_Silent_p.P353P|IKZF3_ENST00000439016.2_Silent_p.P336P|RP11-94L15.2_ENST00000488188.2_lincRNA	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	431					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAGATGGGCGGGGGCTTGA	0.552																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1291-1293)ccG>ccA		IKAROS family zinc finger 3 (Aiolos)		C	,,,,,	0,4406		0,0,2203	127.0	129.0	128.0		1293,1125,1176,1176,1008,1059	-5.4	1.0	17		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IKZF3	NM_012481.3,NM_183228.1,NM_183229.1,NM_183230.1,NM_183231.1,NM_183232.1	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	431/510,375/454,392/471,392/471,336/415,353/432	37922280	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922280C>T	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1293G>A	17.37:g.37922280C>T						IKZF3_ENST00000467757.1_Silent_p.P375P|IKZF3_ENST00000377952.2_Silent_p.P210P|IKZF3_ENST00000346243.3_Silent_p.P353P|IKZF3_ENST00000583368.1_Silent_p.P184P|IKZF3_ENST00000439167.2_Silent_p.P358P|IKZF3_ENST00000439016.2_Silent_p.P336P|IKZF3_ENST00000377945.3_Silent_p.P297P|IKZF3_ENST00000394189.2_Silent_p.P249P|IKZF3_ENST00000377944.3_Silent_p.P288P|IKZF3_ENST00000351680.3_Silent_p.P392P|IKZF3_ENST00000535189.1_Silent_p.P397P|IKZF3_ENST00000350532.3_Silent_p.P392P|IKZF3_ENST00000377958.2_Silent_p.P344P	p.P431P	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1354	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		431					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.1293G>A	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	1.396	-0.579488	0.03854	0.0	1.16E-4	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.72	-5.39	0.02664	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39522	-0.9610	4	.	.	.	-8.615	3.1598	0.06516	0.2018:0.4228:0.1611:0.2143	.	.	.	.	H	346;385	.	.	R	-	2	0	IKZF3	35175806	0.000000	0.05858	0.963000	0.40424	0.352000	0.29268	-2.346000	0.01096	-0.845000	0.04179	-1.073000	0.02249	CGC		0.552	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		17	219	0	0	0	1	0	17	219				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	264	0	0	0	1	0	5	264				
IGSF8	93185	broad.mit.edu	37	1	160063551	160063551	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:160063551G>T	ENST00000368086.1	-	3	1069	c.853C>A	c.(853-855)Cag>Aag	p.Q285K	IGSF8_ENST00000314485.7_Missense_Mutation_p.Q285K|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	285	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTGCAATCTGGGCCCAGCTG	0.607																																						ENST00000368086.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(853-855)Cag>Aag		immunoglobulin superfamily, member 8							40.0	35.0	37.0					1																	160063551		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063551G>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.853C>A	1.37:g.160063551G>T	ENSP00000357065:p.Gln285Lys					IGSF8_ENST00000314485.7_Missense_Mutation_p.Q285K|IGSF8_ENST00000460351.1_5'UTR	p.Q285K			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		3	1069	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		285			Ig-like C2-type 2.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.853C>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485469	0.26686	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.20463	2.07;2.07;2.07	3.64	3.64	0.41730	Immunoglobulin subtype (1);	0.352435	0.26265	N	0.025370	T	0.03695	0.0105	N	0.14661	0.345	0.31066	N	0.713531	B	0.18013	0.025	B	0.12837	0.008	T	0.26916	-1.0089	10	0.05959	T	0.93	-14.2983	14.5965	0.68410	0.0:0.0:1.0:0.0	.	285	Q969P0	IGSF8_HUMAN	K	285	ENSP00000316664:Q285K;ENSP00000357065:Q285K;ENSP00000397464:Q285K	ENSP00000316664:Q285K	Q	-	1	0	IGSF8	158330175	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.529000	0.53532	2.041000	0.60428	0.491000	0.48974	CAG		0.607	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		3	43	1	0	1	1	1	3	43				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	53	0	0	0	1	0	8	53				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>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.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	26	1	0	0.115264	1	0.122379	3	26				
UNC45A	55898	broad.mit.edu	37	15	91486160	91486160	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:91486160A>T	ENST00000418476.2	+	8	915	c.875A>T	c.(874-876)aAg>aTg	p.K292M	UNC45A_ENST00000394275.2_Missense_Mutation_p.K277M|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	292					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGGGAGCTGAAGGTCCTCATC	0.572																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(829-831)aAg>aTg		unc-45 homolog A (C. elegans)							119.0	119.0	119.0					15																	91486160		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91486160A>T		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.875A>T	15.37:g.91486160A>T	ENSP00000407487:p.Lys292Met					UNC45A_ENST00000418476.2_Missense_Mutation_p.K292M|UNC45A_ENST00000553671.2_3'UTR	p.K277M	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		11	1665	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		292					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.830A>T	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794921	0.70452	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.50277	0.75;0.75	6.04	6.04	0.98038	Armadillo-like helical (1);	0.118294	0.64402	D	0.000002	T	0.65964	0.2742	L	0.58101	1.795	0.46798	D	0.999204	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.67248	-0.5718	10	0.62326	D	0.03	-40.5888	16.6244	0.84952	1.0:0.0:0.0:0.0	.	292;277	Q9H3U1;A8K6F7	UN45A_HUMAN;.	M	277;292	ENSP00000377816:K277M;ENSP00000407487:K292M	ENSP00000377816:K277M	K	+	2	0	UNC45A	89287164	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.566000	0.53805	2.323000	0.78572	0.529000	0.55759	AAG		0.572	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		4	261	0	0	0	1	0	4	261				
AHRR	57491	broad.mit.edu	37	5	428114	428114	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:428114G>T	ENST00000505113.1	+	8	957	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	AHRR_ENST00000316418.5_Missense_Mutation_p.D323Y|AHRR_ENST00000506456.1_Missense_Mutation_p.D161Y|AHRR_ENST00000512529.1_Missense_Mutation_p.D151Y	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	305					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGCCACCGCGGATGCAAAGTG	0.587																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(967-969)Gat>Tat		aryl-hydrocarbon receptor repressor							20.0	24.0	23.0					5																	428114		2049	4188	6237	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:428114G>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.913G>T	5.37:g.428114G>T	ENSP00000424601:p.Asp305Tyr					AHRR_ENST00000512529.1_Missense_Mutation_p.D151Y|AHRR_ENST00000506456.1_Missense_Mutation_p.D161Y|AHRR_ENST00000505113.1_Missense_Mutation_p.D305Y	p.D323Y	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	1011	+			305					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.967G>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.099680	0.56183	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.54479	1.24;1.29;0.97;0.98;0.57	4.73	4.73	0.59995	.	0.403215	0.24461	N	0.038327	T	0.75693	0.3884	M	0.89214	3.015	0.40474	D	0.980375	D;P;P	0.89917	1.0;0.828;0.904	D;B;B	0.91635	0.999;0.259;0.439	T	0.81457	-0.0924	10	0.87932	D	0	.	13.2146	0.59851	0.0:0.0:1.0:0.0	.	161;305;323	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	Y	305;323;151;161;28	ENSP00000424601:D305Y;ENSP00000323816:D323Y;ENSP00000424880:D151Y;ENSP00000426932:D161Y;ENSP00000426076:D28Y	ENSP00000323816:D323Y	D	+	1	0	AHRR	481114	0.501000	0.26099	0.052000	0.19188	0.022000	0.10575	1.921000	0.40035	2.173000	0.68751	0.580000	0.79431	GAT		0.587	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		3	32	1	0	1	1	1	3	32				
LCP1	3936	broad.mit.edu	37	13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr13:46718596G>A	ENST00000398576.2	-	14	1622	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412*|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1234-1236)Cga>Tga		lymphocyte cytosolic protein 1 (L-plastin)							132.0	121.0	125.0					13																	46718596		2203	4300	6503	SO:0001587	stop_gained	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46718596G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1234C>T	13.37:g.46718596G>A	ENSP00000381581:p.Arg412*					LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412*	p.R412*			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	14	1622	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	412			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Nonsense_Mutation	SNP	ENST00000398576.2	37	c.1234C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637788	0.98895	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	.	.	.	5.91	5.06	0.68205	.	0.117460	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.5	16.4266	0.83816	0.0:0.1311:0.8689:0.0	.	.	.	.	X	412	.	ENSP00000315757:R412X	R	-	1	2	LCP1	45616597	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.829000	0.69316	1.488000	0.48433	0.555000	0.69702	CGA		0.418	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		6	215	0	0	0	1	0	6	215				
USP11	8237	broad.mit.edu	37	X	47099838	47099838	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:47099838G>A	ENST00000218348.3	+	5	799	c.799G>A	c.(799-801)Gag>Aag	p.E267K	USP11_ENST00000377107.2_Missense_Mutation_p.E224K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	267					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCGGCCCTTGAGACTGGGCA	0.557																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(670-672)Gag>Aag		ubiquitin specific peptidase 11							90.0	78.0	82.0					X																	47099838		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47099838G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.799G>A	X.37:g.47099838G>A	ENSP00000218348:p.Glu267Lys					USP11_ENST00000218348.3_Missense_Mutation_p.E267K	p.E224K			P51784	UBP11_HUMAN			5	1024	+			267					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.670G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	7.842	0.722074	0.15372	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19938	2.12;2.11	5.56	1.94	0.25998	.	0.544994	0.19455	N	0.113836	T	0.07503	0.0189	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26430	-1.0103	10	0.35671	T	0.21	-14.2797	3.854	0.08967	0.4582:0.1913:0.3504:0.0	.	267	P51784	UBP11_HUMAN	K	224;267	ENSP00000366311:E224K;ENSP00000218348:E267K	ENSP00000218348:E267K	E	+	1	0	USP11	46984782	0.015000	0.18098	0.229000	0.23960	0.312000	0.27988	0.568000	0.23623	0.380000	0.24823	0.436000	0.28706	GAG		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		4	92	0	0	0	1	0	4	92				
USP38	84640	broad.mit.edu	37	4	144135159	144135159	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr4:144135159C>A	ENST00000307017.4	+	9	2536	c.2030C>A	c.(2029-2031)aCc>aAc	p.T677N	USP38_ENST00000510377.1_Missense_Mutation_p.T677N	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	677	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AATGAAAAAACCATAGGCAGT	0.403																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(2029-2031)aCc>aAc		ubiquitin specific peptidase 38							106.0	116.0	113.0					4																	144135159		2203	4295	6498	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144135159C>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2030C>A	4.37:g.144135159C>A	ENSP00000303434:p.Thr677Asn					USP38_ENST00000510377.1_Missense_Mutation_p.T677N	p.T677N	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			9	2536	+	all_hematologic(180;0.158)		677					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.2030C>A	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	C	2.503	-0.314670	0.05422	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.08282	3.11;3.11	5.04	0.924	0.19418	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.130670	0.06538	N	0.742707	T	0.05640	0.0148	N	0.22421	0.69	0.09310	N	1	B;B	0.24768	0.014;0.111	B;B	0.21151	0.033;0.033	T	0.45542	-0.9254	10	0.25106	T	0.35	-8.4566	4.4532	0.11630	0.0:0.3981:0.1617:0.4402	.	677;677	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	N	677	ENSP00000427647:T677N;ENSP00000303434:T677N	ENSP00000303434:T677N	T	+	2	0	USP38	144354609	0.015000	0.18098	0.000000	0.03702	0.660000	0.38997	0.559000	0.23485	-0.164000	0.10927	0.460000	0.39030	ACC		0.403	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		5	209	1	0	1	1	1	5	209				
LYZL4	131375	broad.mit.edu	37	3	42448742	42448742	+	Start_Codon_SNP	SNP	A	A	G			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr3:42448742A>G	ENST00000287748.3	-	2	277	c.2T>C	c.(1-3)aTg>aCg	p.M1T	LYZL4_ENST00000441172.1_Start_Codon_SNP_p.M1T|LYZL4_ENST00000470991.1_Intron	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	1					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GGATGCCTTCATCTTCTCCAG	0.572																																						ENST00000287748.3																			0				central_nervous_system(1)|endometrium(1)|lung(1)	3						c.(1-3)aTg>aCg		lysozyme-like 4							94.0	78.0	84.0					3																	42448742		2203	4300	6503	SO:0001582	initiator_codon_variant	131375				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr3:42448742A>G	BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.2T>C	3.37:g.42448742A>G	ENSP00000287748:p.Met1Thr					LYZL4_ENST00000470991.1_Intron|LYZL4_ENST00000441172.1_Start_Codon_SNP_p.M1T	p.M1T	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	2	277	-			1						Translation_Start_Site	SNP	ENST00000287748.3	37	c.2T>C	CCDS2697.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380290	0.42207	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.68331	-0.32;-0.32	4.0	4.0	0.46444	.	0.094737	0.45606	D	0.000360	T	0.78742	0.4331	.	.	.	0.80722	D	1	D	0.65815	0.995	D	0.67231	0.95	T	0.80977	-0.1141	9	0.87932	D	0	-28.0816	9.9187	0.41450	1.0:0.0:0.0:0.0	.	1	Q96KX0	LYZL4_HUMAN	T	1	ENSP00000287748:M1T;ENSP00000387897:M1T	ENSP00000287748:M1T	M	-	2	0	LYZL4	42423746	1.000000	0.71417	0.826000	0.32828	0.261000	0.26267	4.315000	0.59172	1.762000	0.52044	0.529000	0.55759	ATG		0.572	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	NM_144634	Missense_Mutation	5	59	0	0	0	1	0	5	59				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	141	0	0	0	1	0	5	141				
ITIH6	347365	broad.mit.edu	37	X	54783460	54783460	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:54783460G>A	ENST00000218436.6	-	8	3076	c.3047C>T	c.(3046-3048)tCc>tTc	p.S1016F		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1016					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CACGAACTTGGATTCCACCAT	0.527																																						ENST00000218436.6																			0											c.(3046-3048)tCc>tTc		inter-alpha-trypsin inhibitor heavy chain family, member 6							84.0	68.0	74.0					X																	54783460		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783460G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3047C>T	X.37:g.54783460G>A	ENSP00000218436:p.Ser1016Phe						p.S1016F	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	3076	-			1016					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3047C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	2.221	-0.378453	0.05000	.	.	ENSG00000102313	ENST00000218436	T	0.02763	4.17	4.35	1.44	0.22558	.	0.239880	0.16923	U	0.194007	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45585	-0.9251	10	0.66056	D	0.02	.	4.0281	0.09697	0.1892:0.0:0.3379:0.4728	.	1016	Q6UXX5	ITH5L_HUMAN	F	1016	ENSP00000218436:S1016F	ENSP00000218436:S1016F	S	-	2	0	ITIH5L	54800185	0.001000	0.12720	0.003000	0.11579	0.008000	0.06430	0.429000	0.21412	-0.131000	0.11578	-1.003000	0.02500	TCC		0.527	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	52	0	0	0	1	0	9	52				
GGT3P	2679	broad.mit.edu	37	22	18778610	18778610	+	RNA	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr22:18778610G>A	ENST00000412448.1	-	0	795							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										CCGCGGCCACGGCAGCCCTGG	0.632																																						ENST00000412448.1																			0																																																			0							g.chr22:18778610G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778610G>A														0	795	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.632	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		8	12	0	0	0	1	0	8	12				
RNF135	84282	broad.mit.edu	37	17	29325786	29325786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr17:29325786G>A	ENST00000328381.5	+	5	1749	c.876G>A	c.(874-876)tgG>tgA	p.W292*	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	292	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CCTATCGCTGGAGCTGTGAGA	0.532																																						ENST00000328381.5																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(874-876)tgG>tgA		ring finger protein 135							79.0	74.0	76.0					17																	29325786		2203	4300	6503	SO:0001587	stop_gained	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29325786G>A	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.876G>A	17.37:g.29325786G>A	ENSP00000328340:p.Trp292*					RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	p.W292*	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN			5	1749	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	292			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Nonsense_Mutation	SNP	ENST00000328381.5	37	c.876G>A	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	G	40	8.434410	0.98810	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	.	.	.	5.11	4.07	0.47477	.	0.188205	0.26609	N	0.023430	.	.	.	.	.	.	0.29858	N	0.827872	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-10.8634	13.0915	0.59169	0.0:0.1625:0.8374:0.0	.	.	.	.	X	292;111	.	ENSP00000328340:W292X	W	+	3	0	RNF135	26349912	0.028000	0.19301	0.123000	0.21794	0.005000	0.04900	1.253000	0.32886	2.544000	0.85801	0.655000	0.94253	TGG		0.532	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		8	129	0	0	0	1	0	8	129				
ITPR3	3710	broad.mit.edu	37	6	33656147	33656147	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:33656147C>T	ENST00000374316.5	+	49	7567	c.6507C>T	c.(6505-6507)agC>agT	p.S2169S	ITPR3_ENST00000605930.1_Silent_p.S2169S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2169					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCAAAGTGAGCGACTTCTTCG	0.632																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6505-6507)agC>agT		inositol 1,4,5-trisphosphate receptor, type 3							98.0	79.0	86.0					6																	33656147		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656147C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6507C>T	6.37:g.33656147C>T						ITPR3_ENST00000605930.1_Silent_p.S2169S	p.S2169S			Q14573	ITPR3_HUMAN			49	7567	+			2169					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.6507C>T	CCDS4783.1																																																																																				0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		8	87	0	0	0	1	0	8	87				
ARHGAP39	80728	broad.mit.edu	37	8	145763155	145763155	+	Intron	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr8:145763155T>C	ENST00000276826.5	-	6	2723				ARHGAP39_ENST00000377307.2_Missense_Mutation_p.K855R|ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39						axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTTGGACTTCTTCTTAGTGTT	0.547																																						ENST00000377307.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2563-2565)aAg>aGg		Rho GTPase activating protein 39							186.0	191.0	189.0					8																	145763155		2203	4300	6503	SO:0001627	intron_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145763155T>C		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2522-3569A>G	8.37:g.145763155T>C						ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000276826.5_Intron|ARHGAP39_ENST00000540274.1_Intron	p.K855R	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN			6	2648	-			840			MyTH4.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2564A>G		.	.	.	.	.	.	.	.	.	.	T	18.59	3.657215	0.67586	.	.	ENSG00000147799	ENST00000377307	D	0.91792	-2.91	4.95	4.95	0.65309	.	0.258992	0.36519	N	0.002556	D	0.89093	0.6617	L	0.51422	1.61	0.80722	D	1	P	0.43352	0.804	B	0.40066	0.318	D	0.88691	0.3209	10	0.44086	T	0.13	-46.899	12.5727	0.56347	0.0:0.0:0.0:1.0	.	855	Q9C0H5-2	.	R	855	ENSP00000366522:K855R	ENSP00000366522:K855R	K	-	2	0	ARHGAP39	145733963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.105000	0.64591	1.863000	0.54032	0.459000	0.35465	AAG		0.547	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			68	194	0	0	0	1	0	68	194				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	116	0	0	0	1	0	4	116				
IL1RAPL2	26280	broad.mit.edu	37	X	104984645	104984645	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:104984645A>C	ENST00000372582.1	+	8	1765	c.1009A>C	c.(1009-1011)Aat>Cat	p.N337H	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N337H|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	337	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAAAACCGAAATGGACGGAA	0.378																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1009-1011)Aat>Cat		interleukin 1 receptor accessory protein-like 2							77.0	66.0	70.0					X																	104984645		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984645A>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1009A>C	X.37:g.104984645A>C	ENSP00000361663:p.Asn337His					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N337H|IL1RAPL2_ENST00000485671.1_3'UTR	p.N337H	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			8	1765	+			337			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1009A>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867468	0.32977	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.76709	-1.04;-1.04	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75199	0.3817	L	0.37800	1.135	0.80722	D	1	D	0.62365	0.991	P	0.51999	0.687	T	0.71414	-0.4600	10	0.15499	T	0.54	.	13.8962	0.63773	1.0:0.0:0.0:0.0	.	337	Q9NP60	IRPL2_HUMAN	H	337	ENSP00000361663:N337H;ENSP00000344976:N337H	ENSP00000344976:N337H	N	+	1	0	IL1RAPL2	104871301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.097000	0.64542	1.878000	0.54408	0.486000	0.48141	AAT		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		14	193	0	0	0	1	0	14	193				
FLNC	2318	broad.mit.edu	37	7	128478760	128478760	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:128478760C>T	ENST00000325888.8	+	8	1575	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	FLNC_ENST00000346177.6_Silent_p.C438C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	438					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTTCCGCTGCACATACAGAC	0.642																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1312-1314)tgC>tgT		filamin C, gamma							85.0	95.0	92.0					7																	128478760		2129	4230	6359	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478760C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1314C>T	7.37:g.128478760C>T						FLNC_ENST00000346177.6_Silent_p.C438C	p.C438C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			8	1575	+			438					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1314C>T	CCDS43644.1																																																																																				0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			9	236	0	0	0	1	0	9	236				
RNPEP	6051	broad.mit.edu	37	1	201958650	201958650	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:201958650T>C	ENST00000295640.4	+	3	771	c.728T>C	c.(727-729)gTt>gCt	p.V243A	RNPEP_ENST00000471105.1_Intron|RNPEP_ENST00000367286.3_Missense_Mutation_p.V243A	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	243					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCGGCTGAAGTTGGACCCAGG	0.552																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(727-729)gTt>gCt		arginyl aminopeptidase (aminopeptidase B)							101.0	96.0	97.0					1																	201958650		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201958650T>C	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.728T>C	1.37:g.201958650T>C	ENSP00000295640:p.Val243Ala					RNPEP_ENST00000367286.3_Missense_Mutation_p.V243A|RNPEP_ENST00000471105.1_Intron	p.V243A	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	3	771	+			243					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.728T>C	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025294	0.75390	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.02369	4.32;4.32;4.32	5.58	5.58	0.84498	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.155604	0.41396	D	0.000895	T	0.12817	0.0311	M	0.74647	2.275	0.58432	D	0.999999	P;P	0.49862	0.88;0.929	P;P	0.59115	0.755;0.852	T	0.00073	-1.2125	10	0.87932	D	0	-17.4624	14.7303	0.69377	0.0:0.0:0.0:1.0	.	251;243	Q7RU04;Q9H4A4	.;AMPB_HUMAN	A	243;243;112	ENSP00000295640:V243A;ENSP00000356255:V243A;ENSP00000389602:V112A	ENSP00000295640:V243A	V	+	2	0	RNPEP	200225273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.117000	0.64856	0.533000	0.62120	GTT		0.552	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		11	126	0	0	0	1	0	11	126				
GRIN2A	2903	broad.mit.edu	37	16	9858656	9858656	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr16:9858656C>A	ENST00000396573.2	-	14	3054	c.2745G>T	c.(2743-2745)atG>atT	p.M915I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.M758I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M915I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M915I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	915					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)	TGGGTGAGTCCATTCTTGAGG	0.463																																						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.(2743-2745)atG>atT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						224.0	196.0	205.0					16																	9858656		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.chr16:9858656C>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.2745G>T	16.37:g.9858656C>A	ENSP00000379818:p.Met915Ile					GRIN2A_ENST00000396575.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M915I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M758I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M915I	p.M915I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3054	-			915					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2745G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.983260	0.02180	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.52	0.817	0.18773	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.483223	0.23770	N	0.044730	T	0.03348	0.0097	N	0.04043	-0.29	0.33919	D	0.640581	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.35151	-0.9800	9	.	.	.	.	2.5839	0.04826	0.315:0.4272:0.1001:0.1578	.	758;915;915	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	915;915;758;915;915	ENSP00000379818:M915I;ENSP00000385872:M915I;ENSP00000441572:M758I;ENSP00000332549:M915I;ENSP00000379820:M915I	.	M	-	3	0	GRIN2A	9766157	0.883000	0.30277	0.981000	0.43875	0.885000	0.51271	0.027000	0.13621	0.277000	0.22141	-1.268000	0.01426	ATG		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	408	1	0	6.5536e-12	1	7.51479e-12	6	408				
ITPK1	3705	broad.mit.edu	37	14	93483148	93483148	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr14:93483148T>C	ENST00000267615.6	-	4	294		c.e4-2		ITPK1_ENST00000354313.3_Splice_Site|ITPK1_ENST00000555495.1_Splice_Site|ITPK1_ENST00000556603.2_Splice_Site|ITPK1_ENST00000556954.1_Splice_Site			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.?(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AAGGTTCAGCTGTGAGGCAGG	0.577																																						ENST00000267615.6																			2	Unknown(2)	p.?(2)	lung(2)	endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.e4-2		inositol-tetrakisphosphate 1-kinase							84.0	71.0	75.0					14																	93483148		2203	4300	6503	SO:0001630	splice_region_variant	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93483148T>C	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.121-2A>G	14.37:g.93483148T>C						ITPK1_ENST00000556954.1_Splice_Site|ITPK1_ENST00000354313.3_Splice_Site|ITPK1_ENST00000555495.1_Splice_Site|ITPK1_ENST00000556603.2_Splice_Site				Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	4	294	-		all_cancers(154;0.077)|all_epithelial(191;0.247)						Q9BTL6|Q9H2E7	Splice_Site	SNP	ENST00000267615.6	37		CCDS9907.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776788	0.49786	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8354	0.70180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITPK1	92552901	1.000000	0.71417	0.983000	0.44433	0.367000	0.29736	5.554000	0.67294	1.975000	0.57531	0.459000	0.35465	.		0.577	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216	Intron	27	57	0	0	0	1	0	27	57				
RYR3	6263	broad.mit.edu	37	15	33840366	33840366	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:33840366G>A	ENST00000389232.4	+	9	846	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	259	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGGACTCGAGCCAGGTCT	0.512																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(775-777)cGa>cAa		ryanodine receptor 3							45.0	49.0	48.0					15																	33840366		1882	4118	6000	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33840366G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.776G>A	15.37:g.33840366G>A	ENSP00000373884:p.Arg259Gln					RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q	p.R259Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	9	846	+		all_lung(180;7.18e-09)	259			MIR 3.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.776G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	8.516	0.867612	0.17250	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.90955	-2.76;-2.76	5.22	5.22	0.72569	MIR motif (2);MIR (2);	0.146840	0.43919	D	0.000504	T	0.72748	0.3499	N	0.02916	-0.46	0.37599	D	0.92048	P;P	0.51791	0.948;0.91	B;B	0.35470	0.182;0.203	T	0.77294	-0.2641	10	0.16896	T	0.51	.	11.9972	0.53209	0.0795:0.0:0.9205:0.0	.	259;259	Q15413-2;Q15413	.;RYR3_HUMAN	Q	259	ENSP00000373884:R259Q;ENSP00000399610:R259Q	ENSP00000354735:R259Q	R	+	2	0	RYR3	31627658	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	4.063000	0.57499	2.724000	0.93272	0.655000	0.94253	CGA		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	25	0	0	0	1	0	4	25				
ADAR	103	broad.mit.edu	37	1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_Intron	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642																																						ENST00000292205.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(73-75)gTg>gGg		adenosine deaminase, RNA-specific							42.0	46.0	45.0					1																	154600401		876	1991	2867	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154600401A>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000292205.5:c.74T>G	1.37:g.154600401A>C	ENSP00000292205:p.Val25Gly					ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_Intron	p.V25G	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	1	73	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		0					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000292205.5	37	c.74T>G		.	.	.	.	.	.	.	.	.	.	A	12.47	1.946908	0.34377	.	.	ENSG00000160710	ENST00000292205	T	0.13307	2.6	4.03	0.872	0.19113	.	1.108720	0.07140	N	0.847182	T	0.08447	0.0210	.	.	.	0.36170	D	0.848706	.	.	.	.	.	.	T	0.39603	-0.9606	7	0.87932	D	0	-2.0864	3.7143	0.08433	0.2329:0.2072:0.5598:0.0	.	.	.	.	G	25	ENSP00000292205:V25G	ENSP00000292205:V25G	V	-	2	0	ADAR	152867025	0.555000	0.26530	0.954000	0.39281	0.830000	0.47004	-0.015000	0.12634	0.471000	0.27319	-0.386000	0.06593	GTG		0.642	ADAR-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001111		9	58	0	0	0	1	0	9	58				
DOCK6	57572	broad.mit.edu	37	19	11352784	11352784	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:11352784C>T	ENST00000294618.7	-	14	1591	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	527					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTTGGTGGGCCGGCCCCTGGG	0.622																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(1579-1581)cGg>cAg		dedicator of cytokinesis 6							25.0	27.0	26.0					19																	11352784		1837	4084	5921	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11352784C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1580G>A	19.37:g.11352784C>T	ENSP00000294618:p.Arg527Gln						p.R527Q	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			14	1591	-			527					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.1580G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263496	0.95399	.	.	ENSG00000130158	ENST00000294618	T	0.39406	1.08	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.74258	2.255	0.80722	D	1	D	0.55800	0.973	P	0.49528	0.614	T	0.63440	-0.6637	10	0.87932	D	0	-23.3614	14.8543	0.70323	0.0:1.0:0.0:0.0	.	527	Q96HP0	DOCK6_HUMAN	Q	527	ENSP00000294618:R527Q	ENSP00000294618:R527Q	R	-	2	0	DOCK6	11213784	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.327000	0.79147	1.772000	0.52199	0.462000	0.41574	CGG		0.622	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	36	0	0	0	1	0	3	36				
SLC12A2	6558	broad.mit.edu	37	5	127520188	127520188	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:127520188A>C	ENST00000262461.2	+	25	3619	c.3430A>C	c.(3430-3432)Acc>Ccc	p.T1144P	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1128P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1144					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ACTTTATAAGACCAAGGTATT	0.303																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3430-3432)Acc>Ccc		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						83.0	79.0	80.0					5																	127520188		2203	4296	6499	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127520188A>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3430A>C	5.37:g.127520188A>C	ENSP00000262461:p.Thr1144Pro					SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1128P	p.T1144P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	25	3619	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1144					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.3430A>C	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675919	0.47886	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.87887	-2.31;-2.31	5.23	5.23	0.72850	.	0.051584	0.85682	D	0.000000	D	0.82715	0.5097	N	0.11064	0.09	0.52501	D	0.999951	D;D	0.59357	0.985;0.974	P;P	0.53809	0.735;0.548	D	0.83412	0.0028	10	0.32370	T	0.25	.	15.2635	0.73643	1.0:0.0:0.0:0.0	.	1128;1144	P55011-3;P55011	.;S12A2_HUMAN	P	1144;1128	ENSP00000262461:T1144P;ENSP00000340878:T1128P	ENSP00000262461:T1144P	T	+	1	0	SLC12A2	127548087	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	6.804000	0.75186	2.184000	0.69523	0.528000	0.53228	ACC		0.303	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		11	160	0	0	0	1	0	11	160				
SPINK9	643394	broad.mit.edu	37	5	147715192	147715192	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:147715192A>G	ENST00000377906.1	+	1	71	c.16A>G	c.(16-18)Ata>Gta	p.I6V	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	6					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACAGCCATAGTCCTACT	0.478																																						ENST00000377906.1																			0				ovary(1)|urinary_tract(1)	2						c.(16-18)Ata>Gta		serine peptidase inhibitor, Kazal type 9							230.0	186.0	201.0					5																	147715192		2203	4300	6503	SO:0001583	missense	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147715192A>G	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"""Serine peptidase inhibitors, Kazal type"""	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.16A>G	5.37:g.147715192A>G	ENSP00000367139:p.Ile6Val					RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	p.I6V	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	71	+			6					B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	c.16A>G	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.209883	0.00024	.	.	ENSG00000204909	ENST00000377906	T	0.57273	0.41	3.29	0.532	0.17114	.	1.442350	0.04668	N	0.410161	T	0.29652	0.0740	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.15407	-1.0438	9	0.14656	T	0.56	-5.8617	3.3015	0.06984	0.251:0.0:0.2268:0.5223	.	6	Q5DT21	ISK9_HUMAN	V	6	ENSP00000367139:I6V	ENSP00000367139:I6V	I	+	1	0	SPINK9	147695385	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.733000	0.26087	0.453000	0.26858	-0.624000	0.04008	ATA		0.478	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		5	146	0	0	0	1	0	5	146				
BCOR	54880	broad.mit.edu	37	X	39922919	39922919	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:39922919C>A	ENST00000378444.4	-	8	4017	c.3789G>T	c.(3787-3789)gaG>gaT	p.E1263D	BCOR_ENST00000397354.3_Missense_Mutation_p.E1229D|BCOR_ENST00000342274.4_Missense_Mutation_p.E1229D|BCOR_ENST00000378463.1_Missense_Mutation_p.E106D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1211D	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1263					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGCCTTTGGCCTCTGCCCTTT	0.567			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3685-3687)gaG>gaT		BCL6 corepressor							229.0	177.0	194.0					X																	39922919		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922919C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3789G>T	X.37:g.39922919C>A	ENSP00000367705:p.Glu1263Asp					BCOR_ENST00000397354.3_Missense_Mutation_p.E1229D|BCOR_ENST00000378444.4_Missense_Mutation_p.E1263D|BCOR_ENST00000378463.1_Missense_Mutation_p.E106D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1211D	p.E1229D	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			8	4049	-			1263					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3687G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371373	0.61624	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.73152	-0.72;0.66;0.82;0.8;0.66;0.8	5.67	3.67	0.42095	.	.	.	.	.	T	0.73528	0.3598	L	0.32530	0.975	0.45718	D	0.998627	D;D;D	0.76494	0.999;0.998;0.987	D;D;P	0.75484	0.957;0.986;0.85	T	0.72214	-0.4358	9	0.72032	D	0.01	-29.2593	8.2076	0.31465	0.0:0.7182:0.0:0.2818	.	1211;1263;1229	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	D	133;106;1211;1229;1263;1229;1229	ENSP00000408006:E133D;ENSP00000367724:E106D;ENSP00000367716:E1211D;ENSP00000380512:E1229D;ENSP00000367705:E1263D;ENSP00000345923:E1229D	ENSP00000345923:E1229D	E	-	3	2	BCOR	39807863	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	1.804000	0.38873	0.390000	0.25115	0.529000	0.55759	GAG		0.567	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		145	198	1	0	1.81449e-70	1	2.10874e-70	145	198				
HSCB	150274	broad.mit.edu	37	22	29138096	29138096	+	Missense_Mutation	SNP	A	A	G	rs200681712		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr22:29138096A>G	ENST00000216027.3	+	1	78	c.13A>G	c.(13-15)Aga>Gga	p.R5G	CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000405598.1_5'Flank|CHEK2_ENST00000382578.1_5'Flank|HSCB_ENST00000398941.2_Missense_Mutation_p.R5G|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000382565.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	5					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GTGGCGGGGGAGAGCCGGGGC	0.612																																						ENST00000216027.3																			0				kidney(1)|lung(2)|skin(1)	4						c.(13-15)Aga>Gga		HscB mitochondrial iron-sulfur cluster co-chaperone							6.0	8.0	7.0					22																	29138096		2138	4202	6340	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29138096A>G	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.13A>G	22.37:g.29138096A>G	ENSP00000216027:p.Arg5Gly					HSCB_ENST00000398941.2_Missense_Mutation_p.R5G|CHEK2_ENST00000544772.1_5'UTR	p.R5G	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN			1	78	+			5					Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.13A>G	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909658	0.33721	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.47869	1.45;0.83	5.18	1.55	0.23275	.	0.828516	0.11074	N	0.602625	T	0.27765	0.0683	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.24440	-1.0160	10	0.13108	T	0.6	-6.0484	4.1457	0.10215	0.6554:0.0:0.1885:0.1561	.	5	Q8IWL3	HSC20_HUMAN	G	5	ENSP00000216027:R5G;ENSP00000381914:R5G	ENSP00000216027:R5G	R	+	1	2	HSCB	27468096	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	0.119000	0.15626	0.363000	0.24346	0.459000	0.35465	AGA		0.612	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		7	16	0	0	0	1	0	7	16				
OSBPL5	114879	broad.mit.edu	37	11	3128640	3128640	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr11:3128640C>T	ENST00000263650.7	-	9	1071	c.912G>A	c.(910-912)tcG>tcA	p.S304S	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Silent_p.S236S|OSBPL5_ENST00000348039.5_Silent_p.S236S|OSBPL5_ENST00000525498.1_Silent_p.S215S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	304					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCTCTCTCTCCGACTTGTCTG	0.612																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(910-912)tcG>tcA		oxysterol binding protein-like 5							173.0	171.0	172.0					11																	3128640		2202	4298	6500	SO:0001819	synonymous_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3128640C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.912G>A	11.37:g.3128640C>T						OSBPL5_ENST00000389989.3_Silent_p.S236S|OSBPL5_ENST00000525498.1_Silent_p.S215S|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.S236S	p.S304S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	9	1071	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	304					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.912G>A	CCDS31344.1																																																																																				0.612	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			6	320	0	0	0	1	0	6	320				
CREBZF	58487	broad.mit.edu	37	11	85375402	85375402	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr11:85375402C>A	ENST00000527447.1	-	1	744	c.518G>T	c.(517-519)tGc>tTc	p.C173F	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.C91F	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	173					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				gctgctgctgcagcctccgat	0.642											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(517-519)tGc>tTc		CREB/ATF bZIP transcription factor							12.0	15.0	14.0					11																	85375402		2050	4179	6229	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375402C>A	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.518G>T	11.37:g.85375402C>A	ENSP00000433459:p.Cys173Phe		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000398294.2_Missense_Mutation_p.C91F|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	p.C173F	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	744	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	173					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.518G>T	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079529	0.55753	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.52	4.52	0.55395	.	0.297442	0.24647	N	0.036748	T	0.32133	0.0819	N	0.14661	0.345	0.40684	D	0.982335	B	0.33379	0.41	B	0.29440	0.102	T	0.18335	-1.0340	8	.	.	.	-2.4512	12.6401	0.56705	0.0:1.0:0.0:0.0	.	173	Q9NS37	ZHANG_HUMAN	F	91;173	.	.	C	-	2	0	CREBZF	85053050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.670000	0.54569	2.356000	0.79943	0.561000	0.74099	TGC		0.642	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		3	49	1	0	1	1	1	3	49				
CFHR5	81494	broad.mit.edu	37	1	196971684	196971684	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:196971684A>T	ENST00000256785.4	+	8	1329	c.1220A>T	c.(1219-1221)tAt>tTt	p.Y407F	CFHR5_ENST00000367414.5_Missense_Mutation_p.Y431F			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	407	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACAGTGAATTATCAGGATGGA	0.358																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1291-1293)tAt>tTt		complement factor H-related 5							78.0	81.0	80.0					1																	196971684		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196971684A>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1220A>T	1.37:g.196971684A>T	ENSP00000256785:p.Tyr407Phe					CFHR5_ENST00000256785.4_Missense_Mutation_p.Y407F	p.Y431F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			8	1348	+			407			Sushi 7.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1292A>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195005	0.38806	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64260	-0.09;-0.09	3.76	3.76	0.43208	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65080	0.2657	L	0.45470	1.425	0.24333	N	0.994996	D	0.58970	0.984	P	0.59948	0.866	T	0.52749	-0.8534	9	0.13470	T	0.59	.	9.1513	0.36965	1.0:0.0:0.0:0.0	.	407	Q9BXR6	FHR5_HUMAN	F	431;407	ENSP00000356384:Y431F;ENSP00000256785:Y407F	ENSP00000256785:Y407F	Y	+	2	0	CFHR5	195238307	0.978000	0.34361	0.974000	0.42286	0.206000	0.24218	2.789000	0.47813	1.472000	0.48140	0.383000	0.25322	TAT		0.358	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		4	109	0	0	0	1	0	4	109				
WNK3	65267	broad.mit.edu	37	X	54324778	54324778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:54324778C>A	ENST00000375159.2	-	6	1227	c.1228G>T	c.(1228-1230)Gga>Tga	p.G410*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.G410*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.G410*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	410					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACCCTCAGTCCTGTATCCTCA	0.373																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1228-1230)Gga>Tga		WNK lysine deficient protein kinase 3							104.0	94.0	97.0					X																	54324778		2203	4300	6503	SO:0001587	stop_gained	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54324778C>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1228G>T	X.37:g.54324778C>A	ENSP00000364301:p.Gly410*					WNK3_ENST00000375159.2_Nonsense_Mutation_p.G410*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.G410*	p.G410*	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			7	1666	-			410					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	c.1228G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	38	7.078845	0.98048	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	4.93	4.93	0.64822	.	0.000000	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5517	16.0929	0.81102	0.0:1.0:0.0:0.0	.	.	.	.	X	410	.	ENSP00000346667:G410X	G	-	1	0	WNK3	54341503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.049000	0.60858	0.513000	0.50165	GGA		0.373	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		4	183	1	0	0.000602214	1	0.000655575	4	183				
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		8	304						8	304	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		7	25						7	25	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87968903	87968903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:87968903delC	ENST00000369577.3	+	8	5599	c.5556delC	c.(5554-5556)gacfs	p.D1852fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.D1847fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1852						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGAAAATGACCTATCCACTC	0.378																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5554-5556)gafs		zinc finger protein 292							44.0	44.0	44.0					6																	87968903		1909	4126	6035	SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968903delC	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5556delC	6.37:g.87968903delC	ENSP00000358590:p.Asp1852fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.D1847fs	p.D1852fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5599	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1852					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.5556delC	CCDS47457.1																																																																																				0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		51	87						51	87	---	---	---	---
TRBV7-3	28595	broad.mit.edu	37	7	142247473	142247474	+	RNA	DEL	AT	AT	-	rs552769772|rs372827613		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:142247473_142247474delAT	ENST00000390361.3	-	0	99									T cell receptor beta variable 7-3																		acacacacacatacagacacac	0.559																																						ENST00000390361.3																			0																																																			0							g.chr7:142247473_142247474delAT	X61440		7q34	2012-02-07			ENSG00000211714	ENSG00000211714		"""T cell receptors / TRB locus"""	12237	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV73, TCRBV6S1A1N1, TCRBV7S3			OTTHUMG00000158528		7.37:g.142247473_142247474delAT														0	99	-									RNA	DEL	ENST00000390361.3	37																																																																																						0.559	TRBV7-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351234.2	NG_001333		7	296						7	296	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	266						7	266	---	---	---	---
IGHJ6	28475	broad.mit.edu	37	14	106329450	106329451	+	RNA	INS	-	-	ACC	rs2338628|rs67183528|rs376479093|rs74454466	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr14:106329450_106329451insACC	ENST00000390560.2	-	0	17_18				IGHD7-27_ENST00000439842.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHJ5_ENST00000488476.1_RNA|IGHJ3_ENST00000463911.1_RNA					immunoglobulin heavy joining 6																		CAGACGTCCATGTAGTAGTAGT	0.54																																						ENST00000390560.2																			0																																																			0							g.chr14:106329450_106329451insACC	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106329450_106329451insACC														0	17_18	-									RNA	INS	ENST00000390560.2	37																																																																																						0.540	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		7	116						7	116	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795426	42795450	+	Frame_Shift_Del	DEL	CTTCAGGTGGCACCTGCCCCAGCAC	CTTCAGGTGGCACCTGCCCCAGCAC	-	rs199728488|rs190963962|rs368738596		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC	ENST00000575354.2	+	10	2546_2570	c.2506_2530delCTTCAGGTGGCACCTGCCCCAGCAC	c.(2506-2532)cttcaggtggcacctgccccagcaccafs	p.LQVAPAPAP836fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.LQVAPAPAP836fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.LQVAPAPAP1745fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	836	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCAGCAGCTTCAGGTGGCACCTGCCCCAGCACCAGCCCCTGG	0.667			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5233-5259)cafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2506_2530delCTTCAGGTGGCACCTGCCCCAGCAC	19.37:g.42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC	ENSP00000458663:p.Leu836fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.LQVAPAPAP836fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.LQVAPAPAP836fs	p.LQVAPAPAP1745fs			Q96RK0	CIC_HUMAN			11	5301_5325	+		Prostate(69;0.00682)	836					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5233_5257delCTTCAGGTGGCACCTGCCCCAGCAC	CCDS12601.1																																																																																				0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	11						18	11	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			9	269						9	269	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	573						9	573	---	---	---	---
