#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
AADACL4	343066	broad.mit.edu	37	1	12726355	12726355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:12726355G>A	ENST00000376221.1	+	4	833	c.833G>A	c.(832-834)tGg>tAg	p.W278*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	278						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCAGACGTCTGGAGGAAGTAC	0.532																																						uc001auf.2																			0					0						c.(832-834)TGG>TAG		arylacetamide deacetylase-like 4							108.0	110.0	109.0					1																	12726355		2203	4300	6503	SO:0001587	stop_gained	343066					integral to membrane	carboxylesterase activity	g.chr1:12726355G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.833G>A	1.37:g.12726355G>A	ENSP00000365395:p.Trp278*						p.W278*	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	833	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	278			Lumenal (Potential).			Nonsense_Mutation	SNP	ENST00000376221.1	37	c.833G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021257	0.54576	.	.	ENSG00000204518	ENST00000376221	.	.	.	4.38	4.38	0.52667	.	0.126603	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.5772	6.0026	0.19529	0.2111:0.0:0.7889:0.0	.	.	.	.	X	278	.	ENSP00000365395:W278X	W	+	2	0	AADACL4	12648942	0.000000	0.05858	0.672000	0.29872	0.010000	0.07245	0.104000	0.15313	2.238000	0.73509	0.655000	0.94253	TGG		0.532	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630	
LAPTM5	7805	broad.mit.edu	37	1	31210478	31210478	+	Silent	SNP	G	G	A	rs144620246	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:31210478G>A	ENST00000294507.3	-	6	653	c.579C>T	c.(577-579)atC>atT	p.I193I	MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	193					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGGCGATGGAAAAGA	0.542																																						uc001bsc.2																			0					0						c.(577-579)ATC>ATT		lysosomal protein transmembrane 5		G		1,4405	2.1+/-5.4	0,1,2202	225.0	194.0	204.0		579	-9.7	0.0	1	dbSNP_134	204	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAPTM5	NM_006762.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		193/263	31210478	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31210478G>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.579C>T	1.37:g.31210478G>A							p.I193I	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	6	670	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	193			Helical; (Potential).		Q13240|Q14698|Q3KP54	Silent	SNP	ENST00000294507.3	37	c.579C>T	CCDS337.1																																																																																				0.542	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762	
GJA9	81025	broad.mit.edu	37	1	39340374	39340374	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:39340374T>C	ENST00000360786.3	-	1	1649	c.1397A>G	c.(1396-1398)gAc>gGc	p.D466G	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.D466G|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	466					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTTGGAATGTCAAGTGATTG	0.493																																						uc001cct.1																			0					0						c.(1396-1398)GAC>GGC		gap junction protein, alpha 9, 59kDa							119.0	115.0	116.0					1																	39340374		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340374T>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1397A>G	1.37:g.39340374T>C	ENSP00000354020:p.Asp466Gly					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.D466G	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1678	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	466			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.1397A>G	CCDS432.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186016	0.38609	.	.	ENSG00000131233	ENST00000357771;ENST00000360786	D;D	0.97575	-4.44;-4.44	4.14	1.79	0.24919	.	32.883800	0.00166	N	0.000001	D	0.92593	0.7647	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	D	0.84410	0.0565	10	0.37606	T	0.19	.	2.9892	0.05978	0.0:0.2038:0.2319:0.5642	.	466	P57773	CXA9_HUMAN	G	466	ENSP00000350415:D466G;ENSP00000354020:D466G	ENSP00000350415:D466G	D	-	2	0	GJA9	39112961	0.030000	0.19436	0.004000	0.12327	0.381000	0.30169	2.475000	0.45162	0.683000	0.31428	0.533000	0.62120	GAC		0.493	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772	
DMBX1	127343	broad.mit.edu	37	1	46976216	46976216	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:46976216G>A	ENST00000360032.3	+	2	237	c.223G>A	c.(223-225)Gct>Act	p.A75T	DMBX1_ENST00000371956.4_Missense_Mutation_p.A80T	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCGTTCACGGCTCAGCAGCT	0.582																																						uc001cpx.2																			0				ovary(1)	1						c.(238-240)GCT>ACT		diencephalon/mesencephalon homeobox 1 isoform b							75.0	66.0	69.0					1																	46976216		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976216G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.223G>A	1.37:g.46976216G>A	ENSP00000353132:p.Ala75Thr					DMBX1_uc001cpw.2_Missense_Mutation_p.A75T	p.A80T	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			2	253	+	Acute lymphoblastic leukemia(166;0.155)		80			Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.238G>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824330	0.90955	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.96104	-3.91;-3.91	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.101317	0.64402	D	0.000002	D	0.93019	0.7778	N	0.12471	0.22	0.80722	D	1	P;P	0.42296	0.775;0.734	P;P	0.51297	0.665;0.535	D	0.92353	0.5891	10	0.28530	T	0.3	.	17.2476	0.87032	0.0:0.0:1.0:0.0	.	80;75	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	T	80;75	ENSP00000361024:A80T;ENSP00000353132:A75T	ENSP00000353132:A75T	A	+	1	0	DMBX1	46748803	1.000000	0.71417	0.903000	0.35520	0.774000	0.43823	8.011000	0.88624	2.403000	0.81681	0.491000	0.48974	GCT		0.582	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1		
SPTA1	6708	broad.mit.edu	37	1	158647548	158647548	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:158647548C>G	ENST00000368147.4	-	7	1069	c.889G>C	c.(889-891)Gtt>Ctt	p.V297L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	297					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGAGGCAACAAGGTCTTTG	0.478																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(889-891)GTT>CTT		spectrin, alpha, erythrocytic 1							111.0	106.0	107.0					1																	158647548		1967	4161	6128	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158647548C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.889G>C	1.37:g.158647548C>G	ENSP00000357129:p.Val297Leu						p.V297L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			7	1088	-	all_hematologic(112;0.0378)		297			Spectrin 4.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.889G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563335	0.45694	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;0.8	4.58	1.45	0.22620	.	0.629622	0.12064	N	0.502903	T	0.18467	0.0443	L	0.46157	1.445	0.29443	N	0.858997	B	0.15473	0.013	B	0.25759	0.063	T	0.21008	-1.0258	10	0.34782	T	0.22	.	5.341	0.15984	0.1595:0.6513:0.0:0.1892	.	297	P02549	SPTA1_HUMAN	L	297	ENSP00000357130:V297L;ENSP00000357129:V297L	ENSP00000357129:V297L	V	-	1	0	SPTA1	156914172	0.689000	0.27690	0.016000	0.15963	0.708000	0.40852	1.336000	0.33850	0.186000	0.20125	0.655000	0.94253	GTT		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
USH2A	7399	broad.mit.edu	37	1	215848824	215848824	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:215848824C>T	ENST00000307340.3	-	63	12815	c.12429G>A	c.(12427-12429)tcG>tcA	p.S4143S	USH2A_ENST00000366943.2_Silent_p.S4143S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4143	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S4143S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGAGGCGCCGAGTGTGCAC	0.572										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12427-12429)TCG>TCA		usherin isoform B							45.0	46.0	46.0					1																	215848824		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848824C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12429G>A	1.37:g.215848824C>T		HNSCC(13;0.011)					p.S4143S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12816	-			4143			Fibronectin type-III 26.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.12429G>A	CCDS31025.1																																																																																				0.572	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
WDR26	80232	broad.mit.edu	37	1	224586247	224586247	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:224586247G>A	ENST00000414423.2	-	11	1807	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	MIR4742_ENST00000581069.1_RNA|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Silent_p.G391G	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	538						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		AAGCTAATCGGCCATTTTTTG	0.274																																						uc001hop.3																			0					0						c.(1171-1173)GGC>GGT		WD repeat domain 26 isoform a							53.0	57.0	56.0					1																	224586247		2201	4285	6486	SO:0001819	synonymous_variant	80232					cytoplasm|nucleus		g.chr1:224586247G>A	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1614C>T	1.37:g.224586247G>A						WDR26_uc001hoq.3_Silent_p.G375G|WDR26_uc010pvh.1_Silent_p.G98G	p.G391G	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	11	1539	-			538			WD 4.		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	ENST00000414423.2	37	c.1173C>T	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	9.506	1.104381	0.20632	.	.	ENSG00000162923	ENST00000480676	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.69387	0.3105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67593	-0.5631	4	.	.	.	.	13.9434	0.64069	0.0:0.0:0.8481:0.1519	.	.	.	.	S	172	.	.	P	-	1	0	WDR26	222652870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.297000	0.33400	2.581000	0.87130	0.655000	0.94253	CCG		0.274	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
RYR2	6262	broad.mit.edu	37	1	237777926	237777926	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:237777926T>C	ENST00000366574.2	+	37	5815	c.5498T>C	c.(5497-5499)aTc>aCc	p.I1833T	RYR2_ENST00000542537.1_Missense_Mutation_p.I1817T|RYR2_ENST00000360064.6_Missense_Mutation_p.I1831T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1833	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCATGGGCATCTTTCACAAC	0.498																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5497-5499)ATC>ACC		cardiac muscle ryanodine receptor							135.0	128.0	131.0					1																	237777926		1957	4171	6128	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777926T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5498T>C	1.37:g.237777926T>C	ENSP00000355533:p.Ile1833Thr						p.I1833T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5618	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1833			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5498T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046353	0.55110	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72282	-0.64;-0.64;-0.64	5.62	5.62	0.85841	.	0.573654	0.15698	N	0.249078	T	0.63885	0.2549	L	0.36672	1.1	0.80722	D	1	B	0.25351	0.124	B	0.17979	0.02	T	0.62186	-0.6907	10	0.72032	D	0.01	.	15.8259	0.78706	0.0:0.0:0.0:1.0	.	1833	Q92736	RYR2_HUMAN	T	1833;1831;1817	ENSP00000355533:I1833T;ENSP00000353174:I1831T;ENSP00000443798:I1817T	ENSP00000353174:I1831T	I	+	2	0	RYR2	235844549	1.000000	0.71417	0.920000	0.36463	0.962000	0.63368	6.202000	0.72131	2.153000	0.67306	0.528000	0.53228	ATC		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ARMC3	219681	broad.mit.edu	37	10	23235138	23235138	+	Silent	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:23235138A>G	ENST00000298032.5	+	3	198	c.114A>G	c.(112-114)gaA>gaG	p.E38E	ARMC3_ENST00000409983.3_Silent_p.E38E|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Silent_p.E38E	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	38						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCTCCAGAAGAGGAAATTT	0.303																																						uc001irm.3																			0					0						c.(112-114)GAA>GAG		armadillo repeat containing 3							93.0	100.0	97.0					10																	23235138		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23235138A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.114A>G	10.37:g.23235138A>G						ARMC3_uc010qcv.1_Silent_p.E38E|ARMC3_uc010qcw.1_Intron	p.E38E	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			3	197	+			38			ARM 1.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.114A>G	CCDS7142.1																																																																																				0.303	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
ARMC4	55130	broad.mit.edu	37	10	28283881	28283881	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:28283881G>A	ENST00000305242.5	-	2	283	c.191C>T	c.(190-192)gCg>gTg	p.A64V		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	64					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCTGAGGGCGCCAAACTTGT	0.358																																						uc009xky.2																			0				ovary(4)|skin(2)	6						c.(190-192)GCG>GTG		armadillo repeat containing 4							79.0	74.0	76.0					10																	28283881		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28283881G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.191C>T	10.37:g.28283881G>A	ENSP00000306410:p.Ala64Val					ARMC4_uc001itz.2_Missense_Mutation_p.A64V	p.A64V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			2	289	-			64					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.191C>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	2.443	-0.328259	0.05314	.	.	ENSG00000169126	ENST00000305242	T	0.30182	1.54	4.98	-2.43	0.06522	.	0.786081	0.11319	N	0.576283	T	0.14917	0.0360	N	0.14661	0.345	0.26633	N	0.972429	B	0.15719	0.014	B	0.06405	0.002	T	0.15464	-1.0436	10	0.54805	T	0.06	-9.9834	5.7286	0.18026	0.1062:0.0629:0.4442:0.3867	.	64	Q5T2S8	ARMC4_HUMAN	V	64	ENSP00000306410:A64V	ENSP00000306410:A64V	A	-	2	0	ARMC4	28323887	0.237000	0.23815	0.001000	0.08648	0.001000	0.01503	0.848000	0.27710	-0.800000	0.04433	-2.943000	0.00086	GCG		0.358	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
DNTT	1791	broad.mit.edu	37	10	98084132	98084132	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:98084132G>A	ENST00000371174.2	+	6	962	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_ENST00000419175.1_Missense_Mutation_p.R287Q			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	287	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453																																						uc001kmf.2																			0				ovary(1)	1						c.(859-861)CGA>CAA		terminal deoxynucleotidyltransferase isoform 1							106.0	102.0	103.0					10																	98084132		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98084132G>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.860G>A	10.37:g.98084132G>A	ENSP00000360216:p.Arg287Gln					DNTT_uc001kmg.2_Missense_Mutation_p.R287Q	p.R287Q	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	6	1030	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	287			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.860G>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	6.199	0.404895	0.11754	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.45276	0.9;0.9	4.69	-7.24	0.01475	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	1.469460	0.03710	N	0.250072	T	0.26484	0.0647	L	0.28556	0.865	0.09310	N	1	B;B	0.21753	0.049;0.06	B;B	0.17098	0.01;0.017	T	0.23511	-1.0186	10	0.10377	T	0.69	-10.9344	11.1001	0.48168	0.7323:0.1044:0.1633:0.0	.	287;287	P04053-2;P04053	.;TDT_HUMAN	Q	287	ENSP00000401169:R287Q;ENSP00000360216:R287Q	ENSP00000360216:R287Q	R	+	2	0	DNTT	98074122	0.002000	0.14202	0.001000	0.08648	0.950000	0.60333	-0.421000	0.07053	-1.610000	0.01583	0.655000	0.94253	CGA		0.453	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	
ITPRIP	85450	broad.mit.edu	37	10	106075308	106075308	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:106075308C>T	ENST00000337478.1	-	2	673	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	ITPRIP_ENST00000278071.2_Missense_Mutation_p.V168M|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.V168M	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	168						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V168M(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AAGTCATCCACGAAGCCTTCC	0.622																																						uc001kye.2																			1	Substitution - Missense(1)		breast(1)		0						c.(502-504)GTG>ATG		inositol 1,4,5-triphosphate receptor interacting							55.0	59.0	57.0					10																	106075308		2202	4300	6502	SO:0001583	missense	85450					plasma membrane		g.chr10:106075308C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.502G>A	10.37:g.106075308C>T	ENSP00000337178:p.Val168Met					ITPRIP_uc001kyf.2_Missense_Mutation_p.V168M|ITPRIP_uc001kyg.2_Missense_Mutation_p.V168M	p.V168M	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	575	-			168					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.502G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700992	0.68501	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.29397	1.57;1.57;1.57	5.68	5.68	0.88126	.	0.058763	0.64402	D	0.000003	T	0.51398	0.1672	L	0.56769	1.78	0.43919	D	0.996562	D	0.76494	0.999	P	0.60117	0.869	T	0.50709	-0.8796	10	0.87932	D	0	-37.4218	19.7782	0.96405	0.0:1.0:0.0:0.0	.	168	Q8IWB1	IPRI_HUMAN	M	168	ENSP00000337178:V168M;ENSP00000278071:V168M;ENSP00000350915:V168M	ENSP00000278071:V168M	V	-	1	0	ITPRIP	106065298	1.000000	0.71417	0.980000	0.43619	0.492000	0.33523	7.487000	0.81328	2.676000	0.91093	0.563000	0.77884	GTG		0.622	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397	
MRGPRX2	117194	broad.mit.edu	37	11	19077216	19077216	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:19077216A>G	ENST00000329773.2	-	2	821	c.734T>C	c.(733-735)cTa>cCa	p.L245P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	245					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCATAATATTAGGAACCACTG	0.498																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2																			0				ovary(1)	1						c.(733-735)CTA>CCA		MAS-related GPR, member X2							62.0	64.0	63.0					11																	19077216		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077216A>G		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.734T>C	11.37:g.19077216A>G	ENSP00000333800:p.Leu245Pro						p.L245P	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	822	-			245			Helical; Name=6; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.734T>C	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.486652	0.44249	.	.	ENSG00000183695	ENST00000329773	T	0.44482	0.92	4.87	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.552403	0.15477	N	0.260271	T	0.70298	0.3208	H	0.94345	3.525	0.19575	N	0.999966	D	0.89917	1.0	D	0.85130	0.997	T	0.61950	-0.6957	10	0.87932	D	0	.	7.5245	0.27647	0.9033:0.0:0.0967:0.0	.	245	Q96LB1	MRGX2_HUMAN	P	245	ENSP00000333800:L245P	ENSP00000333800:L245P	L	-	2	0	MRGPRX2	19033792	0.001000	0.12720	0.020000	0.16555	0.014000	0.08584	1.304000	0.33482	0.995000	0.38917	0.533000	0.62120	CTA		0.498	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030	
C11orf94	143678	broad.mit.edu	37	11	45928455	45928455	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:45928455A>G	ENST00000449465.1	-	2	176	c.140T>C	c.(139-141)cTg>cCg	p.L47P	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	47						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CGAGAGTTCCAGGGGGGCGGA	0.617																																						uc001nbs.3																			0					0						c.(139-141)CTG>CCG		hypothetical protein LOC143678							63.0	76.0	71.0					11																	45928455		2016	4171	6187	SO:0001583	missense	143678					extracellular region		g.chr11:45928455A>G		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.140T>C	11.37:g.45928455A>G	ENSP00000401498:p.Leu47Pro						p.L47P	NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN			2	177	-			47						Missense_Mutation	SNP	ENST00000449465.1	37	c.140T>C	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432233	0.43122	.	.	ENSG00000234776	ENST00000449465	T	0.54071	0.59	4.73	4.73	0.59995	.	.	.	.	.	T	0.71239	0.3316	.	.	.	0.58432	D	0.999993	D	0.76494	0.999	D	0.74023	0.982	T	0.75741	-0.3211	8	0.87932	D	0	-22.7433	12.7909	0.57533	1.0:0.0:0.0:0.0	.	47	C9JXX5	CK094_HUMAN	P	47	ENSP00000401498:L47P	ENSP00000401498:L47P	L	-	2	0	C11orf94	45885031	1.000000	0.71417	0.942000	0.38095	0.073000	0.16967	5.704000	0.68347	1.763000	0.52060	0.482000	0.46254	CTG		0.617	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446	
SMTNL1	219537	broad.mit.edu	37	11	57314061	57314061	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:57314061G>C	ENST00000399154.2	+	7	1165	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	SMTNL1_ENST00000457912.1_Missense_Mutation_p.D444H|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D426H			A8MU46	SMTL1_HUMAN	smoothelin-like 1	389	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGACGCCTTTGACTACGCAGA	0.587																																						uc009ymh.1																			0				ovary(1)	1						c.(1330-1332)GAC>CAC		smoothelin-like 1							91.0	89.0	90.0					11																	57314061		2198	4296	6494	SO:0001583	missense	219537							g.chr11:57314061G>C	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.1165G>C	11.37:g.57314061G>C	ENSP00000382108:p.Asp389His						p.D444H	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			7	1330	+			426						Missense_Mutation	SNP	ENST00000399154.2	37	c.1330G>C		.	.	.	.	.	.	.	.	.	.	G	24.8	4.573041	0.86542	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.63744	-0.06;-0.06;-0.06	4.74	4.74	0.60224	.	0.000000	0.33110	U	0.005279	D	0.84696	0.5529	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89277	0.3609	10	0.87932	D	0	-24.1777	16.64	0.85069	0.0:0.0:1.0:0.0	.	444	C9J621	.	H	444;426;389	ENSP00000406485:D444H;ENSP00000432651:D426H;ENSP00000382108:D389H	ENSP00000382108:D389H	D	+	1	0	SMTNL1	57070637	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	9.584000	0.98220	2.464000	0.83262	0.561000	0.74099	GAC		0.587	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203	
NUMA1	4926	broad.mit.edu	37	11	71729532	71729532	+	Missense_Mutation	SNP	C	C	T	rs190582413		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:71729532C>T	ENST00000393695.3	-	11	1101	c.770G>A	c.(769-771)cGc>cAc	p.R257H	NUMA1_ENST00000358965.6_Missense_Mutation_p.R257H|NUMA1_ENST00000351960.6_Missense_Mutation_p.R257H|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCGGTCAATGCGCTGCTGCAT	0.557			T	RARA	APL								C|||	1	0.000199681	0.0	0.0	5008	,	,		21111	0.001		0.0	False		,,,				2504	0.0					uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(769-771)CGC>CAC		nuclear mitotic apparatus protein 1							53.0	49.0	50.0					11																	71729532		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729532C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.770G>A	11.37:g.71729532C>T	ENSP00000377298:p.Arg257His					NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R257H|NUMA1_uc001orm.1_Missense_Mutation_p.R257H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R257H|NUMA1_uc001oro.1_Missense_Mutation_p.R257H|NUMA1_uc009ysy.1_Missense_Mutation_p.R257H|NUMA1_uc001orp.2_Missense_Mutation_p.R257H|NUMA1_uc001orq.2_Missense_Mutation_p.R257H	p.R257H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			11	942	-			257			Potential.			Missense_Mutation	SNP	ENST00000393695.3	37	c.770G>A	CCDS31633.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.91	3.251622	0.59212	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.62105	1.75;1.82;1.8;0.54;0.05	5.36	4.45	0.53987	.	0.235198	0.39210	N	0.001421	T	0.67813	0.2933	L	0.32530	0.975	0.33704	D	0.614878	D;B;B;B;D;B	0.89917	1.0;0.098;0.098;0.119;1.0;0.013	D;B;B;B;D;B	0.91635	0.999;0.023;0.023;0.029;0.996;0.01	T	0.76493	-0.2939	10	0.66056	D	0.02	.	10.3323	0.43829	0.0:0.8469:0.0:0.1531	.	257;257;257;257;257;257	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	H	257	ENSP00000260051:R257H;ENSP00000351851:R257H;ENSP00000377298:R257H;ENSP00000444880:R257H;ENSP00000442936:R257H	ENSP00000260051:R257H	R	-	2	0	NUMA1	71407180	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	1.649000	0.37281	1.398000	0.46701	-0.140000	0.14226	CGC		0.557	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
ADAMTS20	80070	broad.mit.edu	37	12	43846340	43846340	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:43846340C>G	ENST00000389420.3	-	13	1918	c.1919G>C	c.(1918-1920)aGg>aCg	p.R640T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R640T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	640	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGGAAGCCACCTCACATTAGA	0.368																																						uc010skx.1																			0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1918-1920)AGG>ACG		a disintegrin-like and metalloprotease with							86.0	77.0	80.0					12																	43846340		2203	4299	6502	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43846340C>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1919G>C	12.37:g.43846340C>G	ENSP00000374071:p.Arg640Thr						p.R640T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	13	1919	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	640			Cys-rich.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1919G>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749078	0.69533	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.59364	4.38;0.27	4.85	4.85	0.62838	.	0.000000	0.47852	D	0.000210	T	0.71239	0.3316	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.72597	-0.4245	10	0.56958	D	0.05	.	18.851	0.92230	0.0:1.0:0.0:0.0	.	640	P59510	ATS20_HUMAN	T	640	ENSP00000374071:R640T;ENSP00000448341:R640T	ENSP00000374068:R640T	R	-	2	0	ADAMTS20	42132607	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.445000	0.80570	2.624000	0.88883	0.563000	0.77884	AGG		0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
DCTN2	10540	broad.mit.edu	37	12	57939864	57939864	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:57939864C>T	ENST00000548249.1	-	2	319	c.52G>A	c.(52-54)Gat>Aat	p.D18N	DCTN2_ENST00000543672.1_Missense_Mutation_p.D18N|DCTN2_ENST00000434715.3_Missense_Mutation_p.D18N	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	18					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCATAAACATCTGGCTCATTC	0.517																																						uc001som.1																			0				ovary(1)	1						c.(52-54)GAT>AAT		dynactin 2							131.0	134.0	133.0					12																	57939864		2099	4227	6326	SO:0001583	missense	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57939864C>T	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.52G>A	12.37:g.57939864C>T	ENSP00000447824:p.Asp18Asn					DCTN2_uc009zpu.1_Missense_Mutation_p.D18N|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_5'UTR|DCTN2_uc001sop.1_5'UTR|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Missense_Mutation_p.D18N	p.D18N	NM_006400	NP_006391	Q13561	DCTN2_HUMAN			2	184	-			18					B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	c.52G>A	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194133	0.94960	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000354743;ENST00000550954;ENST00000546670	.	.	.	5.23	4.34	0.51931	.	0.048703	0.85682	D	0.000000	T	0.80374	0.4611	M	0.83774	2.66	0.80722	D	1	D;P;P	0.89917	1.0;0.876;0.709	D;P;P	0.87578	0.998;0.508;0.641	D	0.84108	0.0399	9	0.87932	D	0	0.0292	15.2585	0.73603	0.0:0.8586:0.1414:0.0	.	18;18;18	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	N	18	.	ENSP00000346785:D18N	D	-	1	0	DCTN2	56226131	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.584000	0.74057	1.361000	0.45981	-0.122000	0.15005	GAT		0.517	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400	
TMTC2	160335	broad.mit.edu	37	12	83251229	83251229	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251229C>G	ENST00000321196.3	+	2	1231	c.524C>G	c.(523-525)tCa>tGa	p.S175*	TMTC2_ENST00000549919.1_Nonsense_Mutation_p.S169*|TMTC2_ENST00000548305.1_Nonsense_Mutation_p.S175*	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	175					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTCCTGGGGTCAGGACTGTGC	0.507																																						uc001szt.2																			0				ovary(2)	2						c.(523-525)TCA>TGA		transmembrane and tetratricopeptide repeat							98.0	78.0	85.0					12																	83251229		2203	4300	6503	SO:0001587	stop_gained	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251229C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.524C>G	12.37:g.83251229C>G	ENSP00000322300:p.Ser175*					TMTC2_uc001szr.1_Nonsense_Mutation_p.S175*|TMTC2_uc001szs.1_Nonsense_Mutation_p.S175*|TMTC2_uc010suk.1_Intron	p.S175*	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	956	+			175			Helical; (Potential).		B2RCU7|Q8N2K8	Nonsense_Mutation	SNP	ENST00000321196.3	37	c.524C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	42	9.389379	0.99156	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	.	.	.	5.6	5.6	0.85130	.	0.178303	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-12.3075	18.1624	0.89712	0.0:1.0:0.0:0.0	.	.	.	.	X	175;175;169	.	ENSP00000322300:S175X	S	+	2	0	TMTC2	81775360	0.996000	0.38824	0.961000	0.40146	0.873000	0.50193	5.869000	0.69613	2.788000	0.95919	0.650000	0.86243	TCA		0.507	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
TMTC2	160335	broad.mit.edu	37	12	83251308	83251308	+	Silent	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251308C>G	ENST00000321196.3	+	2	1310	c.603C>G	c.(601-603)gtC>gtG	p.V201V	TMTC2_ENST00000549919.1_Silent_p.V195V|TMTC2_ENST00000548305.1_Silent_p.V201V	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	201					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTATGATGTCTTTGTCTTTC	0.443																																						uc001szt.2																			0				ovary(2)	2						c.(601-603)GTC>GTG		transmembrane and tetratricopeptide repeat							106.0	90.0	96.0					12																	83251308		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251308C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.603C>G	12.37:g.83251308C>G						TMTC2_uc001szr.1_Silent_p.V201V|TMTC2_uc001szs.1_Silent_p.V201V|TMTC2_uc010suk.1_Intron	p.V201V	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	1035	+			201			Helical; (Potential).		B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.603C>G	CCDS9025.1																																																																																				0.443	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
TMTC2	160335	broad.mit.edu	37	12	83251314	83251314	+	Silent	SNP	C	C	G	rs138847027	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251314C>G	ENST00000321196.3	+	2	1316	c.609C>G	c.(607-609)gtC>gtG	p.V203V	TMTC2_ENST00000549919.1_Silent_p.V197V|TMTC2_ENST00000548305.1_Silent_p.V203V	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	203					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGTCTTTGTCTTTCACAGGC	0.428																																						uc001szt.2																			0				ovary(2)	2						c.(607-609)GTC>GTG		transmembrane and tetratricopeptide repeat							100.0	86.0	90.0					12																	83251314		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251314C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.609C>G	12.37:g.83251314C>G						TMTC2_uc001szr.1_Silent_p.V203V|TMTC2_uc001szs.1_Silent_p.V203V|TMTC2_uc010suk.1_Intron	p.V203V	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	1041	+			203			Helical; (Potential).		B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.609C>G	CCDS9025.1																																																																																				0.428	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
HVCN1	84329	broad.mit.edu	37	12	111089040	111089040	+	Missense_Mutation	SNP	C	C	A	rs543818690		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:111089040C>A	ENST00000356742.5	-	5	1378	c.625G>T	c.(625-627)Gtg>Ttg	p.V209L	HVCN1_ENST00000439744.2_Missense_Mutation_p.V189L|HVCN1_ENST00000242607.8_Missense_Mutation_p.V209L|HVCN1_ENST00000548312.1_Missense_Mutation_p.V209L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	209					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATCCGGGCCACCCGCCACAGC	0.602																																						uc001trs.1																			0				skin(1)	1						c.(625-627)GTG>TTG		hydrogen voltage-gated channel 1							64.0	54.0	57.0					12																	111089040		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111089040C>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.625G>T	12.37:g.111089040C>A	ENSP00000349181:p.Val209Leu					HVCN1_uc001trq.1_Missense_Mutation_p.V209L|HVCN1_uc001trt.1_Missense_Mutation_p.V209L|HVCN1_uc010syd.1_Missense_Mutation_p.V189L	p.V209L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			6	790	-			209			Helical; Name=Segment S4; (By similarity).		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.625G>T	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	29.4	5.000189	0.93227	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.61	5.61	0.85477	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98469	0.9490	M	0.63208	1.945	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.85130	0.997;0.853	D	0.99698	1.1003	10	0.72032	D	0.01	-39.281	19.6266	0.95679	0.0:1.0:0.0:0.0	.	209;209	Q96D96;Q96D96-3	HVCN1_HUMAN;.	L	209;209;209;189	ENSP00000449601:V209L;ENSP00000242607:V209L;ENSP00000349181:V209L;ENSP00000412052:V189L	ENSP00000242607:V209L	V	-	1	0	HVCN1	109573423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.065000	0.71176	2.648000	0.89879	0.556000	0.70494	GTG		0.602	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369	
TBX5	6910	broad.mit.edu	37	12	114832609	114832609	+	Silent	SNP	C	C	T	rs139329918	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:114832609C>T	ENST00000310346.4	-	6	1266	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TBX5_ENST00000405440.2_Silent_p.A200A|TBX5_ENST00000552726.1_5'Flank|TBX5_ENST00000349716.5_Silent_p.A150A|TBX5_ENST00000526441.1_Silent_p.A200A	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	200					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A200A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGTGCAGAACGCTGTATTTT	0.433																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(598-600)GCG>GCA		T-box 5 isoform 1							217.0	216.0	216.0					12																	114832609		2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114832609C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.600G>A	12.37:g.114832609C>T						TBX5_uc001tvp.2_Silent_p.A200A|TBX5_uc001tvq.2_Silent_p.A150A|TBX5_uc010syv.1_Silent_p.A200A	p.A200A	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	6	1095	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		200			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.600G>A	CCDS9173.1																																																																																				0.433	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
GCN1L1	10985	broad.mit.edu	37	12	120596393	120596393	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:120596393G>A	ENST00000300648.6	-	25	2788	c.2776C>T	c.(2776-2778)Cgc>Tgc	p.R926C		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	926					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGCAGGCGCAGGGTCACG	0.582																																						uc001txo.2																			0				ovary(4)	4						c.(2776-2778)CGC>TGC		GCN1 general control of amino-acid synthesis							34.0	37.0	36.0					12																	120596393		2109	4224	6333	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120596393G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2776C>T	12.37:g.120596393G>A	ENSP00000300648:p.Arg926Cys						p.R926C	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			25	2789	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		926					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.2776C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854976	0.91355	.	.	ENSG00000089154	ENST00000300648	T	0.05447	3.44	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02411	-1.1163	10	0.87932	D	0	.	19.196	0.93689	0.0:0.0:1.0:0.0	.	926	Q92616	GCN1L_HUMAN	C	926	ENSP00000300648:R926C	ENSP00000300648:R926C	R	-	1	0	GCN1L1	119080776	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.028000	0.93712	2.543000	0.85770	0.655000	0.94253	CGC		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
SYT16	83851	broad.mit.edu	37	14	62547880	62547880	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:62547880G>A	ENST00000430451.2	+	4	1519	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	441	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TACGCTGCCCGGAAGATGACC	0.567																																						uc001xfu.1																			0				central_nervous_system(1)	1						c.(1321-1323)CGG>CAG		synaptotagmin XIV-like							32.0	34.0	34.0					14																	62547880		2178	4288	6466	SO:0001583	missense	83851							g.chr14:62547880G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1322G>A	14.37:g.62547880G>A	ENSP00000394700:p.Arg441Gln					SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	p.R441Q	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1519	+			441			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1322G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794219	0.50102	.	.	ENSG00000139973	ENST00000430451	T	0.79352	-1.26	4.96	2.98	0.34508	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.473004	0.23583	N	0.046621	T	0.60919	0.2306	L	0.39898	1.24	0.80722	D	1	P	0.37864	0.61	B	0.29598	0.104	T	0.61033	-0.7144	10	0.48119	T	0.1	-29.4563	4.95	0.14009	0.243:0.0:0.5989:0.1581	.	441	Q17RD7	SYT16_HUMAN	Q	441	ENSP00000394700:R441Q	ENSP00000394700:R441Q	R	+	2	0	SYT16	61617633	0.287000	0.24315	0.991000	0.47740	0.853000	0.48598	1.736000	0.38187	1.423000	0.47198	0.650000	0.86243	CGG		0.567	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
NRXN3	9369	broad.mit.edu	37	14	80130234	80130234	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:80130234C>T	ENST00000557594.1	+	3	1496	c.543C>T	c.(541-543)aaC>aaT	p.N181N	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Silent_p.N813N|NRXN3_ENST00000554719.1_Silent_p.N813N|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000281127.7_Silent_p.N181N|NRXN3_ENST00000428277.2_Silent_p.N181N	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	181	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCACCAGGAACGGCGGCAACG	0.488																																						uc001xun.2																			0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2437-2439)AAC>AAT		neurexin 3 isoform 1 precursor							125.0	110.0	115.0					14																	80130234		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80130234C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.543C>T	14.37:g.80130234C>T						NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.N181N|NRXN3_uc010asw.2_Silent_p.N181N|NRXN3_uc001xur.3_Silent_p.N181N	p.N813N	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	14	2930	+		Renal(4;0.00876)	1186			Extracellular (Potential).|Laminin G-like 6.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.2439C>T																																																																																					0.488	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	
JAG2	3714	broad.mit.edu	37	14	105609172	105609172	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:105609172C>T	ENST00000331782.3	-	26	3980	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T	JAG2_ENST00000347004.2_Missense_Mutation_p.A1155T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1193					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AACTTCTCCGCCTCCAGGGAG	0.706																																						uc001yqg.2																			0				lung(3)|breast(2)	5						c.(3577-3579)GCG>ACG		jagged 2 isoform a precursor							28.0	27.0	27.0					14																	105609172		2201	4299	6500	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609172C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3577G>A	14.37:g.105609172C>T	ENSP00000328169:p.Ala1193Thr					JAG2_uc010axf.2_Silent_p.R16R|JAG2_uc001yqf.2_Missense_Mutation_p.A597T|JAG2_uc001yqh.2_Missense_Mutation_p.A1155T	p.A1193T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	3981	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1193			Cytoplasmic (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3577G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729255	0.48833	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86497	-2.13;-2.13	4.85	4.85	0.62838	.	0.988144	0.08245	N	0.975508	D	0.83806	0.5334	L	0.44542	1.39	0.29606	N	0.847305	B;B	0.23249	0.082;0.049	B;B	0.24394	0.053;0.024	T	0.75033	-0.3460	10	0.42905	T	0.14	.	11.1556	0.48486	0.0:0.9085:0.0:0.0915	.	1155;1193	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	1193;1155	ENSP00000328169:A1193T;ENSP00000328566:A1155T	ENSP00000328169:A1193T	A	-	1	0	JAG2	104680217	0.833000	0.29383	0.968000	0.41197	0.505000	0.33919	3.256000	0.51492	2.248000	0.74166	0.561000	0.74099	GCG		0.706	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
SLC28A2	9153	broad.mit.edu	37	15	45556870	45556870	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:45556870G>A	ENST00000347644.3	+	7	671	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	202					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.V202V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GGAGGACAGTGTTTTCGGGCC	0.433																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(604-606)GTG>GTA		solute carrier family 28 (sodium-coupled							154.0	140.0	145.0					15																	45556870		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45556870G>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.606G>A	15.37:g.45556870G>A							p.V202V	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	7	671	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	202			Helical; (Potential).		A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.606G>A	CCDS10121.1																																																																																				0.433	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	
HERC1	8925	broad.mit.edu	37	15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:63970125C>T	ENST00000443617.2	-	37	7076	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2330					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGTGGCATGGCGCCCAGTTTG	0.527																																						uc002amp.2																			0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(6988-6990)CGC>CAC		hect domain and RCC1-like domain 1							155.0	160.0	158.0					15																	63970125		2146	4261	6407	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970125C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6989G>A	15.37:g.63970125C>T	ENSP00000390158:p.Arg2330His						p.R2330H	NM_003922	NP_003913	Q15751	HERC1_HUMAN			37	7137	-			2330					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6989G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452210	0.96223	.	.	ENSG00000103657	ENST00000443617	T	0.31510	1.49	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.54271	0.1848	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.52563	-0.8559	10	0.87932	D	0	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	2330	Q15751	HERC1_HUMAN	H	2330	ENSP00000390158:R2330H	ENSP00000390158:R2330H	R	-	2	0	HERC1	61757178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	CGC		0.527	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
TLE3	7090	broad.mit.edu	37	15	70347545	70347545	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:70347545G>A	ENST00000558939.1	-	15	2807	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	TLE3_ENST00000560589.1_Missense_Mutation_p.A421V|TLE3_ENST00000539550.1_Missense_Mutation_p.A404V|TLE3_ENST00000317509.8_Missense_Mutation_p.A465V|TLE3_ENST00000558201.1_Missense_Mutation_p.A483V|TLE3_ENST00000559048.1_Missense_Mutation_p.A477V|TLE3_ENST00000560939.1_Missense_Mutation_p.A479V|TLE3_ENST00000451782.2_Missense_Mutation_p.A474V|TLE3_ENST00000557907.1_Missense_Mutation_p.A469V|TLE3_ENST00000558379.1_Missense_Mutation_p.A472V|TLE3_ENST00000559191.1_Missense_Mutation_p.A58V|TLE3_ENST00000559929.1_Missense_Mutation_p.A487V|TLE3_ENST00000440567.3_Missense_Mutation_p.A467V|TLE3_ENST00000442299.2_Missense_Mutation_p.A469V|TLE3_ENST00000557997.1_Missense_Mutation_p.A469V	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	477					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCTGCCGGGCGTGCCTCGG	0.642																																						uc002asm.2																			0				lung(2)	2						c.(1429-1431)GCC>GTC		transducin-like enhancer protein 3 isoform a							59.0	66.0	64.0					15																	70347545		2199	4298	6497	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70347545G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1430C>T	15.37:g.70347545G>A	ENSP00000452871:p.Ala477Val					TLE3_uc002ask.2_Missense_Mutation_p.A404V|TLE3_uc002asl.2_Missense_Mutation_p.A477V|TLE3_uc010ukd.1_Missense_Mutation_p.A467V|TLE3_uc010bik.1_Missense_Mutation_p.A58V|TLE3_uc010bil.1_Missense_Mutation_p.A474V|TLE3_uc002asn.2_Missense_Mutation_p.A465V|TLE3_uc002asp.2_Missense_Mutation_p.A469V|TLE3_uc002aso.2_Missense_Mutation_p.A472V	p.A477V	NM_005078	NP_005069	Q04726	TLE3_HUMAN			15	2549	-			477					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1430C>T	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802408	0.90538	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	4.54	4.54	0.55810	WD40 repeat-like-containing domain (1);	0.179933	0.48286	D	0.000195	T	0.32466	0.0830	M	0.76838	2.35	0.80722	D	1	D;P;P;D;D;D;D;P	0.69078	0.996;0.885;0.913;0.997;0.996;0.991;0.996;0.671	P;B;B;P;D;P;P;B	0.64144	0.897;0.318;0.359;0.791;0.922;0.701;0.84;0.191	T	0.11542	-1.0583	10	0.66056	D	0.02	-19.861	16.2284	0.82315	0.0:0.0:1.0:0.0	.	467;474;469;472;465;477;477;404	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	V	469;474;477;467;404;144	ENSP00000390007:A469V;ENSP00000394717:A474V;ENSP00000415057:A467V;ENSP00000442594:A404V	ENSP00000319233:A477V	A	-	2	0	TLE3	68134599	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.530000	0.98051	2.352000	0.79861	0.462000	0.41574	GCC		0.642	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078	
WFIKKN1	117166	broad.mit.edu	37	16	683877	683877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:683877C>A	ENST00000319070.2	+	2	1789	c.1467C>A	c.(1465-1467)tgC>tgA	p.C489*		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	489	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				ACTGGGCCTGCCCCTGCCCCA	0.677																																						uc002cht.1																			0					0						c.(1465-1467)TGC>TGA		WAP, follistatin/kazal, immunoglobulin, kunitz							57.0	31.0	40.0					16																	683877		2171	4286	6457	SO:0001587	stop_gained	117166					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr16:683877C>A	AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.1467C>A	16.37:g.683877C>A	ENSP00000324763:p.Cys489*					WFIKKN1_uc002chs.1_3'UTR|uc010uuk.1_5'Flank	p.C489*	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN			2	1709	+		Hepatocellular(780;0.00335)	489			NTR.		Q7LDW0|Q8NBQ1|Q96S20	Nonsense_Mutation	SNP	ENST00000319070.2	37	c.1467C>A	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	c	38	6.701948	0.97776	.	.	ENSG00000127578	ENST00000319070	.	.	.	5.31	1.18	0.20946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0971	0.36645	0.0:0.6981:0.0:0.3019	.	.	.	.	X	489	.	ENSP00000324763:C489X	C	+	3	2	WFIKKN1	623878	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.174000	0.50847	0.242000	0.21303	0.556000	0.70494	TGC		0.677	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284	
NOD2	64127	broad.mit.edu	37	16	50763750	50763750	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:50763750C>T	ENST00000300589.2	+	11	3093	c.2988C>T	c.(2986-2988)acC>acT	p.T996T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	996					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTGCATCACCTACCTAGGGG	0.502																																						uc002egm.1																			0				ovary(3)|skin(1)	4						c.(2986-2988)ACC>ACT		nucleotide-binding oligomerization domain							119.0	120.0	120.0					16																	50763750		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50763750C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2988C>T	16.37:g.50763750C>T						NOD2_uc010vgq.1_Silent_p.T41T	p.T996T	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			11	3093	+		all_cancers(37;0.0156)	996			LRR 8.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.2988C>T	CCDS10746.1																																																																																				0.502	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
KLHL36	79786	broad.mit.edu	37	16	84691222	84691222	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:84691222C>A	ENST00000564996.1	+	3	950	c.809C>A	c.(808-810)gCc>gAc	p.A270D	KLHL36_ENST00000258157.5_Missense_Mutation_p.A270D	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	270					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGAGGAGGCCGTGCGCTAC	0.677																																						uc002fig.2																			0				skin(2)	2						c.(808-810)GCC>GAC		kelch-like 36							32.0	29.0	30.0					16																	84691222		2197	4298	6495	SO:0001583	missense	79786							g.chr16:84691222C>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.809C>A	16.37:g.84691222C>A	ENSP00000456743:p.Ala270Asp					KLHL36_uc010chl.2_Missense_Mutation_p.A269D	p.A270D	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN			3	950	+			270					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.809C>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284215	0.80803	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.80566	-1.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.992	D	0.92404	0.5932	10	0.87932	D	0	.	18.4088	0.90543	0.0:1.0:0.0:0.0	.	270;270	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	D	270	ENSP00000258157:A270D	ENSP00000258157:A270D	A	+	2	0	KLHL36	83248723	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.644000	0.83416	2.582000	0.87167	0.563000	0.77884	GCC		0.677	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2		
ZC3H18	124245	broad.mit.edu	37	16	88643657	88643657	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:88643657G>A	ENST00000301011.5	+	2	326	c.126G>A	c.(124-126)ggG>ggA	p.G42G	ZC3H18_ENST00000452588.2_Silent_p.G42G	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	42						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACGGGGCGGGGGTGAGGGCTT	0.612																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2																			0				skin(1)	1						c.(124-126)GGG>GGA		zinc finger CCCH-type containing 18							28.0	30.0	29.0					16																	88643657		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643657G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.126G>A	16.37:g.88643657G>A						ZC3H18_uc010voy.1_Silent_p.G42G|ZC3H18_uc010voz.1_Silent_p.G42G|ZC3H18_uc010vpa.1_Silent_p.G42G	p.G42G	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	326	+			42					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.126G>A	CCDS10967.1																																																																																				0.612	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
NLRP1	22861	broad.mit.edu	37	17	5461860	5461860	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:5461860A>G	ENST00000572272.1	-	4	2155	c.2156T>C	c.(2155-2157)cTc>cCc	p.L719P	NLRP1_ENST00000577119.1_Missense_Mutation_p.L719P|NLRP1_ENST00000345221.3_Missense_Mutation_p.L719P|NLRP1_ENST00000262467.5_Missense_Mutation_p.L719P|NLRP1_ENST00000354411.3_Missense_Mutation_p.L719P|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.L719P			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	719					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAAGCAGTGGAGGGACTCCAG	0.537																																						uc002gci.2																			0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(2155-2157)CTC>CCC		NLR family, pyrin domain containing 1 isoform 1							67.0	67.0	67.0					17																	5461860		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5461860A>G	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2156T>C	17.37:g.5461860A>G	ENSP00000460475:p.Leu719Pro					NLRP1_uc002gcg.1_Missense_Mutation_p.L719P|NLRP1_uc002gck.2_Missense_Mutation_p.L719P|NLRP1_uc002gcj.2_Missense_Mutation_p.L719P|NLRP1_uc002gcl.2_Missense_Mutation_p.L719P|NLRP1_uc002gch.3_Missense_Mutation_p.L719P|NLRP1_uc010clh.2_Missense_Mutation_p.L719P	p.L719P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			4	2711	-		Colorectal(1115;3.48e-05)	719					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2156T>C	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814958	0.50527	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	4.02	4.02	0.46733	.	0.689206	0.12024	N	0.506628	T	0.70064	0.3181	M	0.76574	2.34	0.19945	N	0.999944	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.77004	0.989;0.989;0.962;0.989;0.987	T	0.57957	-0.7721	10	0.87932	D	0	.	9.6835	0.40085	1.0:0.0:0.0:0.0	.	719;719;719;719;719	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	P	719	ENSP00000442029:L719P;ENSP00000262467:L719P;ENSP00000269280:L719P;ENSP00000346390:L719P;ENSP00000324366:L719P	ENSP00000262467:L719P	L	-	2	0	NLRP1	5402584	0.306000	0.24490	0.007000	0.13788	0.032000	0.12392	2.892000	0.48625	2.066000	0.61787	0.529000	0.55759	CTC		0.537	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
DNAH2	146754	broad.mit.edu	37	17	7643075	7643075	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:7643075G>A	ENST00000572933.1	+	9	2655	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	DNAH2_ENST00000570791.1_Missense_Mutation_p.A481T|DNAH2_ENST00000082259.3_Missense_Mutation_p.A481T|DNAH2_ENST00000389173.2_Missense_Mutation_p.A399T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	399	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTATCACTTCGCCCGCTGGGA	0.488																																						uc002giu.1																			0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1195-1197)GCC>ACC		dynein heavy chain domain 3							71.0	64.0	67.0					17																	7643075		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643075G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1195G>A	17.37:g.7643075G>A	ENSP00000458355:p.Ala399Thr					DNAH2_uc002git.2_Missense_Mutation_p.A481T|DNAH2_uc010vuk.1_Missense_Mutation_p.A399T	p.A399T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			8	1209	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	399			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1195G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125203	0.94429	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55413	1.84;0.52	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	L	0.40543	1.245	0.42155	D	0.991578	D;D	0.89917	1.0;0.986	D;P	0.74348	0.983;0.889	T	0.61148	-0.7121	10	0.37606	T	0.19	.	17.6301	0.88104	0.0:0.0:1.0:0.0	.	399;481	Q9P225;Q9P225-3	DYH2_HUMAN;.	T	399;399;481	ENSP00000373825:A399T;ENSP00000082259:A481T	ENSP00000082259:A481T	A	+	1	0	DNAH2	7583800	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.209000	0.89751	2.779000	0.95612	0.650000	0.86243	GCC		0.488	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
TP53I13	90313	broad.mit.edu	37	17	27899699	27899699	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:27899699C>T	ENST00000301057.7	+	6	1168	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	RP11-68I3.4_ENST00000579050.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	351						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CAGCGGACAGCCAGGACACAG	0.701																																						uc002hee.2																			0					0						c.(1051-1053)AGC>AGT		tumor protein p53 inducible protein 13							6.0	7.0	7.0					17																	27899699		2035	4164	6199	SO:0001819	synonymous_variant	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27899699C>T	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.1053C>T	17.37:g.27899699C>T							p.S351S	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	6	1091	+			351			Cytoplasmic (Potential).		Q7L5U3	Silent	SNP	ENST00000301057.7	37	c.1053C>T	CCDS42289.1																																																																																				0.701	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349	
RHBDL3	162494	broad.mit.edu	37	17	30611787	30611787	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30611787C>T	ENST00000269051.4	+	3	259	c.245C>T	c.(244-246)gCc>gTc	p.A82V	RHBDL3_ENST00000536287.1_Intron|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A74V	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGGCTCTTGCCGACAGCCAC	0.592																																						uc002hhe.1																			0				ovary(1)	1						c.(244-246)GCC>GTC		rhomboid protease 3							62.0	62.0	62.0					17																	30611787		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30611787C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.245C>T	17.37:g.30611787C>T	ENSP00000269051:p.Ala82Val					RHBDL3_uc010csw.1_Missense_Mutation_p.A74V|RHBDL3_uc010csx.1_Missense_Mutation_p.A82V|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron	p.A82V	NM_138328	NP_612201	P58872	RHBL3_HUMAN			3	259	+		Breast(31;0.116)|Ovarian(249;0.182)	82			EF-hand 2.		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.245C>T	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393901	0.62066	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145	T;T;T	0.70986	-0.53;-0.53;0.95	4.68	4.68	0.58851	EF-hand-like domain (1);	0.062566	0.64402	D	0.000006	T	0.72220	0.3433	N	0.16166	0.38	0.80722	D	1	D;B;B	0.67145	0.996;0.028;0.059	D;B;B	0.67725	0.953;0.028;0.101	T	0.76429	-0.2962	10	0.49607	T	0.09	-26.8572	17.8226	0.88654	0.0:1.0:0.0:0.0	.	82;74;82	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	V	82;82;74	ENSP00000394849:A82V;ENSP00000269051:A82V;ENSP00000442092:A74V	ENSP00000269051:A82V	A	+	2	0	RHBDL3	27635900	1.000000	0.71417	0.382000	0.26119	0.755000	0.42902	6.750000	0.74888	2.423000	0.82170	0.563000	0.77884	GCC		0.592	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
ZNF207	7756	broad.mit.edu	37	17	30685561	30685561	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30685561C>T	ENST00000321233.6	+	3	362	c.208C>T	c.(208-210)Cct>Tct	p.P70S	ZNF207_ENST00000394673.2_Missense_Mutation_p.P70S|ZNF207_ENST00000341711.6_Intron|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394670.4_Missense_Mutation_p.P70S|ZNF207_ENST00000577908.1_Missense_Mutation_p.P70S|ZNF207_ENST00000342555.6_Missense_Mutation_p.P73S	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	70	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AAATGCAATACCTGGAAGAAC	0.333																																						uc002hhh.3																			0					0						c.(208-210)CCT>TCT		zinc finger protein 207 isoform a							86.0	89.0	88.0					17																	30685561		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30685561C>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.208C>T	17.37:g.30685561C>T	ENSP00000322777:p.Pro70Ser					ZNF207_uc002hhj.3_Missense_Mutation_p.P70S|ZNF207_uc002hhi.3_Missense_Mutation_p.P70S|ZNF207_uc010csz.2_Missense_Mutation_p.P73S|ZNF207_uc002hhk.1_Missense_Mutation_p.P70S|ZNF207_uc002hhl.1_5'Flank	p.P70S	NM_003457	NP_003448	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	356	+		Breast(31;0.116)|Ovarian(249;0.182)	70					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.208C>T	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000148	0.54147	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T	0.58940	0.3;0.3;0.3	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.79926	2.475	0.80722	D	1	P;P;P;P;P	0.48503	0.911;0.911;0.911;0.911;0.911	P;P;P;P;P	0.45558	0.485;0.485;0.485;0.485;0.485	T	0.74968	-0.3483	10	0.72032	D	0.01	.	18.5395	0.91022	0.0:1.0:0.0:0.0	.	70;73;70;70;70	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	S	70;70;73;70;70	ENSP00000378165:P70S;ENSP00000378168:P70S;ENSP00000322777:P70S	ENSP00000322777:P70S	P	+	1	0	ZNF207	27709674	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.476000	0.81055	2.469000	0.83416	0.650000	0.86243	CCT		0.333	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2		
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						uc010wfp.1																			1	Substitution - Missense(1)		endometrium(1)		0						c.(52-54)GAC>GTC		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	53	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041	
KRT9	3857	broad.mit.edu	37	17	39725742	39725742	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:39725742C>T	ENST00000246662.4	-	4	1045	c.980G>A	c.(979-981)cGt>cAt	p.R327H	KRT9_ENST00000588431.1_Missense_Mutation_p.R94H	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	327	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.R327H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATACTCCTGACGCATGTCATT	0.502																																						uc002hxe.3																			1	Substitution - Missense(1)		endometrium(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(979-981)CGT>CAT		keratin 9							218.0	176.0	190.0					17																	39725742		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725742C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.980G>A	17.37:g.39725742C>T	ENSP00000246662:p.Arg327His					JUP_uc010wfs.1_Intron	p.R327H	NM_000226	NP_000217	P35527	K1C9_HUMAN			4	1046	-		Breast(137;0.000307)	327			Rod.|Coil 2.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.980G>A	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670318	0.47677	.	.	ENSG00000171403	ENST00000246662	D	0.93307	-3.2	4.25	2.21	0.28008	Filament (1);	.	.	.	.	D	0.94361	0.8187	H	0.94734	3.575	0.29718	N	0.838901	P	0.49090	0.919	B	0.40901	0.343	D	0.90168	0.4233	9	0.87932	D	0	.	10.4866	0.44726	0.0:0.8367:0.0:0.1633	.	327	P35527	K1C9_HUMAN	H	327	ENSP00000246662:R327H	ENSP00000246662:R327H	R	-	2	0	KRT9	36979268	0.997000	0.39634	0.274000	0.24659	0.222000	0.24845	3.645000	0.54389	0.245000	0.21373	-0.224000	0.12420	CGT		0.502	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	
ACLY	47	broad.mit.edu	37	17	40065323	40065323	+	Splice_Site	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:40065323T>G	ENST00000352035.2	-	6	667		c.e6-2		ACLY_ENST00000393896.2_Splice_Site|ACLY_ENST00000590151.1_Splice_Site|ACLY_ENST00000353196.1_Splice_Site|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase						ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCAGAATTCTAGAGGTGGGA	0.562																																					Colon(64;807 1396 15971 30971)	uc002hyg.2																			0				ovary(2)|central_nervous_system(1)	3						c.e6-1		ATP citrate lyase isoform 1							47.0	54.0	52.0					17																	40065323		2203	4300	6503	SO:0001630	splice_region_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40065323T>G	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.537-2A>C	17.37:g.40065323T>G						ACLY_uc002hyh.2_Splice_Site_p.E179_splice|ACLY_uc002hyi.2_Splice_Site_p.E233_splice|ACLY_uc010wfx.1_Splice_Site_p.E233_splice|ACLY_uc010wfy.1_Intron	p.E179_splice	NM_001096	NP_001087	P53396	ACLY_HUMAN			6	700	-		Breast(137;0.000143)						B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	ENST00000352035.2	37	c.537_splice	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794960	0.70452	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.007	0.80370	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACLY	37318849	1.000000	0.71417	0.992000	0.48379	0.597000	0.36814	7.823000	0.86660	2.180000	0.69256	0.460000	0.39030	.		0.562	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Intron
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						uc002ild.3																			0				lung(2)|breast(2)|ovary(1)	5						c.(1360-1362)CTAfs		cell division cycle protein 27 isoform 2							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	p.L454fs	NM_001256	NP_001247	P30260	CDC27_HUMAN			11	1488	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
SMCHD1	23347	broad.mit.edu	37	18	2752502	2752502	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:2752502G>A	ENST00000320876.6	+	34	4636	c.4298G>A	c.(4297-4299)tGt>tAt	p.C1433Y	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.C1433Y	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1433					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACATTTAGTTGTAATAAAATA	0.303																																						uc002klm.3																			0					0						c.(4297-4299)TGT>TAT		structural maintenance of chromosomes flexible							57.0	58.0	58.0					18																	2752502		1800	4055	5855	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2752502G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4298G>A	18.37:g.2752502G>A	ENSP00000326603:p.Cys1433Tyr					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.C1433Y	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			34	4487	+			1433					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4298G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051556	0.75960	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27256	1.68;1.68	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.67953	2.075	0.42593	D	0.993254	D	0.65815	0.995	D	0.75484	0.986	T	0.51834	-0.8655	10	0.87932	D	0	-12.2587	16.8641	0.86025	0.0:0.0:1.0:0.0	.	1433	A6NHR9	SMHD1_HUMAN	Y	1433	ENSP00000326603:C1433Y;ENSP00000261598:C1433Y	ENSP00000261598:C1433Y	C	+	2	0	SMCHD1	2742502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.090000	0.71397	2.648000	0.89879	0.591000	0.81541	TGT		0.303	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
LAMA1	284217	broad.mit.edu	37	18	7036079	7036079	+	Silent	SNP	C	C	T	rs368609998		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:7036079C>T	ENST00000389658.3	-	13	1839	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	582	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCCGCCAAACGCAGTCAGCT	0.463																																						uc002knm.2																			0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1744-1746)GCG>GCA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C		0,4406		0,0,2203	131.0	99.0	110.0		1746	-11.4	0.0	18		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMA1	NM_005559.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		582/3076	7036079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7036079C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1746G>A	18.37:g.7036079C>T						LAMA1_uc010wzj.1_Silent_p.A58A	p.A582A	NM_005559	NP_005550	P25391	LAMA1_HUMAN			13	1840	-		Colorectal(10;0.172)	582			Laminin IV type A 1.			Silent	SNP	ENST00000389658.3	37	c.1746G>A	CCDS32787.1																																																																																				0.463	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
PTBP1	5725	broad.mit.edu	37	19	804908	804908	+	Missense_Mutation	SNP	C	C	T	rs201221864		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:804908C>T	ENST00000349038.4	+	7	759	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000356948.6_Missense_Mutation_p.A229V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGTATGCGGACCCCGTG	0.662																																						uc002lpr.2																			0				kidney(1)|skin(1)	2						c.(685-687)GCG>GTG		polypyrimidine tract-binding protein 1 isoform		C	VAL/ALA,VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	82.0	77.0	79.0		686,686,686,	3.1	0.0	19		79	0,8600		0,0,4300	yes	missense,missense,missense,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	64,64,64,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,	229/558,229/551,229/532,	804908	1,13005	2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804908C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.686C>T	19.37:g.804908C>T	ENSP00000014112:p.Ala229Val					PTBP1_uc002lpp.2_Missense_Mutation_p.A229V|PTBP1_uc002lpq.2_Missense_Mutation_p.A229V|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.A199V	p.A229V	NM_031991	NP_114368	P26599	PTBP1_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)	7	792	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	229			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.686C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465840	0.26335	2.27E-4	0.0	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47528	0.84;0.84;1.13	5.22	3.11	0.35812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.312976	0.33753	N	0.004595	T	0.43211	0.1237	M	0.70842	2.15	0.25834	N	0.984139	B;B;B	0.21905	0.062;0.01;0.012	B;B;B	0.17098	0.017;0.01;0.017	T	0.44636	-0.9315	10	0.62326	D	0.03	-38.0913	6.3887	0.21576	0.0:0.6883:0.1504:0.1613	.	229;229;229	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	229	ENSP00000349428:A229V;ENSP00000408096:A229V;ENSP00000014112:A229V	ENSP00000014112:A229V	A	+	2	0	PTBP1	755908	0.998000	0.40836	0.003000	0.11579	0.273000	0.26683	3.875000	0.56108	0.601000	0.29879	-0.136000	0.14681	GCG		0.662	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1		
SBNO2	22904	broad.mit.edu	37	19	1119057	1119057	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:1119057G>A	ENST00000361757.3	-	14	1717	c.1480C>T	c.(1480-1482)Ccg>Tcg	p.P494S	SBNO2_ENST00000587024.1_Missense_Mutation_p.P494S|SBNO2_ENST00000438103.2_Missense_Mutation_p.P437S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	494					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		GGGGCCAGCGGGATCTCCTCG	0.657																																						uc002lrk.3																			0					0						c.(1480-1482)CCG>TCG		strawberry notch homolog 2 isoform 1							30.0	40.0	36.0					19																	1119057		2190	4281	6471	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1119057G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1480C>T	19.37:g.1119057G>A	ENSP00000354733:p.Pro494Ser					SBNO2_uc002lrj.3_Missense_Mutation_p.P437S|SBNO2_uc010dse.2_Missense_Mutation_p.P487S|SBNO2_uc010xgj.1_Intron|SBNO2_uc010dsf.2_Missense_Mutation_p.P437S	p.P494S	NM_014963	NP_055778	Q9Y2G9	SBNO2_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)	14	1718	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	494					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.1480C>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670885	0.29693	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.89	2.81	0.32909	.	0.309084	0.35585	N	0.003117	T	0.52709	0.1751	L	0.58101	1.795	0.39345	D	0.96564	B;P;P	0.40681	0.05;0.727;0.68	B;B;B	0.39935	0.101;0.314;0.209	T	0.56171	-0.8023	9	0.38643	T	0.18	-26.9125	12.5597	0.56273	0.0:0.1692:0.8308:0.0	.	494;494;437	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	S	494;437;518	.	ENSP00000250872:P518S	P	-	1	0	SBNO2	1070057	1.000000	0.71417	0.997000	0.53966	0.531000	0.34715	4.590000	0.61013	0.928000	0.37168	0.462000	0.41574	CCG		0.657	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963	
TLE2	7089	broad.mit.edu	37	19	3013710	3013710	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:3013710G>A	ENST00000262953.6	-	11	1092	c.830C>T	c.(829-831)tCt>tTt	p.S277F	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Missense_Mutation_p.S155F|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000587217.1_5'Flank|TLE2_ENST00000590536.1_Missense_Mutation_p.S278F|TLE2_ENST00000591529.1_Missense_Mutation_p.S291F|TLE2_ENST00000455444.2_Missense_Mutation_p.S155F|TLE2_ENST00000426948.2_Missense_Mutation_p.S291F	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	277	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCCAAGGCTAGAGGCCAAGGA	0.642																																						uc002lww.2																			0					0						c.(829-831)TCT>TTT		transducin-like enhancer protein 2 isoform 1							31.0	32.0	32.0					19																	3013710		1944	4127	6071	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3013710G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.830C>T	19.37:g.3013710G>A	ENSP00000262953:p.Ser277Phe					TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.S278F|TLE2_uc010xhc.1_Missense_Mutation_p.S155F|TLE2_uc010dti.2_Missense_Mutation_p.S291F|TLE2_uc010xhd.1_Missense_Mutation_p.S185F	p.S277F	NM_003260	NP_003251	Q04725	TLE2_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)	11	1093	-			277			Pro/Ser-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.830C>T	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700706	0.48307	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T	0.59638	0.35;0.25;0.25;0.56	4.62	4.62	0.57501	.	0.257886	0.39615	N	0.001316	T	0.74084	0.3670	M	0.76170	2.325	0.43334	D	0.995371	D;D;P;D;D	0.71674	0.998;0.995;0.796;0.995;0.995	D;D;P;D;D	0.80764	0.994;0.986;0.615;0.986;0.986	T	0.77653	-0.2507	10	0.87932	D	0	-20.9635	13.1534	0.59503	0.0:0.1618:0.8382:0.0	.	185;155;291;155;277	B4DZU9;E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	F	277;155;271;155;291;185	ENSP00000262953:S277F;ENSP00000413107:S155F;ENSP00000392427:S155F;ENSP00000392869:S291F	ENSP00000262953:S277F	S	-	2	0	TLE2	2964710	1.000000	0.71417	0.995000	0.50966	0.140000	0.21249	7.334000	0.79224	2.292000	0.77174	0.549000	0.68633	TCT		0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	
MUC16	94025	broad.mit.edu	37	19	8997446	8997446	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:8997446T>G	ENST00000397910.4	-	59	41179	c.40976A>C	c.(40975-40977)aAg>aCg	p.K13659T	MUC16_ENST00000380951.5_Missense_Mutation_p.K300T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13661	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTTGAACTTCCTGGAGCC	0.567																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40975-40977)AAG>ACG		mucin 16							177.0	141.0	153.0					19																	8997446		1979	4151	6130	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997446T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40976A>C	19.37:g.8997446T>G	ENSP00000381008:p.Lys13659Thr					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K476T|MUC16_uc010xki.1_RNA	p.K13659T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			59	41180	-			13661	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40976A>C	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.64|11.64	1.699104|1.699104	0.30142|0.30142	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.28895|.	1.59;1.59|.	2.86|2.86	-0.726|-0.726	0.11170|0.11170	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.50292|0.50292	0.1607|0.1607	M|M	0.77103|0.77103	2.36|2.36	.|.	.|.	.|.	B;D|.	0.53745|.	0.43;0.962|.	B;D|.	0.66716|.	0.359;0.946|.	T|T	0.54337|0.54337	-0.8309|-0.8309	8|4	0.49607|.	T|.	0.09|.	-2.2599|-2.2599	3.5788|3.5788	0.07945|0.07945	0.3968:0.0:0.204:0.3992|0.3968:0.0:0.204:0.3992	.|.	21304;13659|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	T|R	13659;300|499	ENSP00000381008:K13659T;ENSP00000370338:K300T|.	ENSP00000370338:K300T|.	K|S	-|-	2|1	0|0	MUC16|MUC16	8858446|8858446	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.114000|0.114000	0.15520|0.15520	-0.257000|-0.257000	0.09459|0.09459	-0.509000|-0.509000	0.04479|0.04479	AAG|AGT		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF527	84503	broad.mit.edu	37	19	37880558	37880558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:37880558G>A	ENST00000436120.2	+	5	1714	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCCTTCAGTTGTGGCTCA	0.398																																						uc010efk.1																			0				ovary(2)	2						c.(1606-1608)AGT>AAT		zinc finger protein 527							74.0	81.0	79.0					19																	37880558		2197	4299	6496	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880558G>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1607G>A	19.37:g.37880558G>A	ENSP00000390179:p.Ser536Asn					ZNF527_uc002ogf.3_Missense_Mutation_p.S504N|ZNF527_uc010xtq.1_RNA	p.S536N	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1718	+			536			C2H2-type 10.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1607G>A	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331029	0.41297	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.84	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39985	N	0.001204	T	0.38558	0.1045	L	0.58925	1.835	0.34485	D	0.704351	B;B	0.29481	0.167;0.245	B;B	0.22601	0.037;0.04	T	0.31916	-0.9926	9	0.29301	T	0.29	.	3.2646	0.06860	0.0984:0.1759:0.5442:0.1815	.	536;504	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	N	536;504;484	.	ENSP00000325231:S504N	S	+	2	0	ZNF527	42572398	0.000000	0.05858	0.561000	0.28357	0.989000	0.77384	-1.091000	0.03369	0.270000	0.21984	0.655000	0.94253	AGT		0.398	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453	
ZNF229	7772	broad.mit.edu	37	19	44933459	44933459	+	Silent	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:44933459A>G	ENST00000588931.1	-	6	1930	c.1497T>C	c.(1495-1497)agT>agC	p.S499S	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.S493S	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACGAGTTGTGACTGAAACCTT	0.517																																						uc002oze.1																			0				skin(2)|ovary(1)|pancreas(1)	4						c.(1495-1497)AGT>AGC		zinc finger protein 229							140.0	147.0	144.0					19																	44933459		2128	4249	6377	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933459A>G	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1497T>C	19.37:g.44933459A>G						ZNF229_uc010ejk.1_Silent_p.S153S|ZNF229_uc010ejl.1_Silent_p.S493S	p.S499S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	1931	-		Prostate(69;0.0352)	499			C2H2-type 7.		B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1497T>C	CCDS42574.1																																																																																				0.517	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
ZNF816	125893	broad.mit.edu	37	19	53454033	53454033	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:53454033C>T	ENST00000357666.4	-	5	1295	c.995G>A	c.(994-996)cGt>cAt	p.R332H	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R332H	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATGAAGTCTACGATGGCATCT	0.423																																						uc002qal.1																			0					0						c.(994-996)CGT>CAT		zinc finger protein 816A							153.0	160.0	158.0					19																	53454033		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454033C>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.995G>A	19.37:g.53454033C>T	ENSP00000350295:p.Arg332His					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.R316H	p.R332H	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	1296	-			332			C2H2-type 4.		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.995G>A	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	6.749	0.506992	0.12883	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.18502	2.21;2.21	1.79	0.0192	0.14120	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18964	0.0455	L	0.55481	1.735	0.09310	N	1	P	0.50156	0.932	P	0.49637	0.617	T	0.12167	-1.0558	9	0.37606	T	0.19	.	3.0267	0.06094	0.2278:0.4563:0.0:0.3159	.	332	Q0VGE8	ZN816_HUMAN	H	332	ENSP00000350295:R332H;ENSP00000403266:R332H	ENSP00000350295:R332H	R	-	2	0	ZNF816	58145845	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.263000	0.02850	-0.226000	0.09899	0.205000	0.17691	CGT		0.423	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
TPO	7173	broad.mit.edu	37	2	1459947	1459947	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:1459947G>A	ENST00000345913.4	+	7	803	c.712G>A	c.(712-714)Gac>Aac	p.D238N	TPO_ENST00000349624.3_Missense_Mutation_p.D238N|TPO_ENST00000346956.3_Missense_Mutation_p.D238N|TPO_ENST00000329066.4_Missense_Mutation_p.D238N|TPO_ENST00000382201.3_Missense_Mutation_p.D238N|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.D238N|TPO_ENST00000382198.1_Missense_Mutation_p.D238N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	238					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAATACATCGACCACGACAT	0.522																																						uc002qww.2																			0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(712-714)GAC>AAC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						123.0	91.0	102.0					2																	1459947		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459947G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.712G>A	2.37:g.1459947G>A	ENSP00000318820:p.Asp238Asn					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.D238N|TPO_uc002qwr.2_Missense_Mutation_p.D238N|TPO_uc002qwx.2_Missense_Mutation_p.D238N|TPO_uc010yio.1_Missense_Mutation_p.D238N|TPO_uc010yip.1_Missense_Mutation_p.D238N	p.D238N	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	803	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	238			Extracellular (Potential).	Heme (covalent; via 2 links) (By similarity).	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.712G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700584	0.48307	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.04	3.16	0.36331	.	0.240626	0.47455	D	0.000239	D	0.82342	0.5016	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.999	P;P;P;D	0.64321	0.876;0.891;0.814;0.924	T	0.83072	-0.0142	10	0.87932	D	0	-13.6158	10.382	0.44117	0.1678:0.0:0.8322:0.0	.	238;238;238;238	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	N	238;238;238;238;238;238;238;167	ENSP00000337263:D238N;ENSP00000318820:D238N;ENSP00000263886:D238N;ENSP00000332044:D238N;ENSP00000329869:D238N;ENSP00000371636:D238N;ENSP00000371633:D238N;ENSP00000405788:D167N	ENSP00000329869:D238N	D	+	1	0	TPO	1438954	0.864000	0.29904	0.014000	0.15608	0.010000	0.07245	4.013000	0.57138	0.568000	0.29311	-0.253000	0.11424	GAC		0.522	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
NT5C1B	93034	broad.mit.edu	37	2	18765887	18765887	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:18765887C>T	ENST00000359846.2	-	5	873	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E266K|NT5C1B_ENST00000304081.4_Missense_Mutation_p.E206K|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E266K	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	266					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCTGCTGCTCGGACAGAGAG	0.652																																						uc002rcz.2																			0				skin(2)|ovary(1)	3						c.(796-798)GAG>AAG		5' nucleotidase, cytosolic IB isoform 1							18.0	20.0	19.0					2																	18765887		2202	4296	6498	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18765887C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.796G>A	2.37:g.18765887C>T	ENSP00000352904:p.Glu266Lys					NT5C1B_uc002rcy.2_Missense_Mutation_p.E266K|NT5C1B_uc010exr.2_Missense_Mutation_p.E208K|NT5C1B_uc010yju.1_Missense_Mutation_p.E206K|NT5C1B_uc002rda.2_Missense_Mutation_p.E206K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E283K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E249K|NT5C1B_uc010exs.2_Missense_Mutation_p.E268K|NT5C1B_uc002rdb.1_Missense_Mutation_p.E58K	p.E266K	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			5	900	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	266					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.796G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760603	0.49468	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89552	-2.53	4.34	3.44	0.39384	.	1.923890	0.02542	N	0.094695	D	0.84875	0.5569	N	0.24115	0.695	0.09310	N	0.999998	D;D;D;D;P;P;D;D;D	0.58970	0.984;0.984;0.966;0.984;0.814;0.837;0.98;0.966;0.98	B;B;B;B;B;B;B;B;B	0.42692	0.306;0.306;0.222;0.306;0.057;0.121;0.395;0.222;0.395	T	0.75156	-0.3417	10	0.35671	T	0.21	-17.1853	12.8755	0.57988	0.0:0.8353:0.1647:0.0	.	249;283;206;249;208;58;206;266;266	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	K	266;208;206;266	ENSP00000412639:E208K	ENSP00000305979:E206K	E	-	1	0	NT5C1B-RDH14;NT5C1B	18629368	0.000000	0.05858	0.157000	0.22605	0.007000	0.05969	0.315000	0.19451	1.121000	0.41925	-0.537000	0.04273	GAG		0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
APOB	338	broad.mit.edu	37	2	21231021	21231021	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:21231021G>A	ENST00000233242.1	-	26	8846	c.8719C>T	c.(8719-8721)Cgc>Tgc	p.R2907C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2907					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCGTTGCGCAGGTCAGCC	0.468																																						uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8719-8721)CGC>TGC		apolipoprotein B precursor	Atorvastatin(DB01076)						175.0	169.0	171.0					2																	21231021		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231021G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8719C>T	2.37:g.21231021G>A	ENSP00000233242:p.Arg2907Cys						p.R2907C	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8847	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2907					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8719C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503445	0.26949	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00760	5.73	5.73	3.72	0.42706	.	1.019710	0.07833	N	0.961610	T	0.01558	0.0050	L	0.51422	1.61	0.20196	N	0.999927	D	0.69078	0.997	B	0.43575	0.424	T	0.58521	-0.7622	10	0.54805	T	0.06	.	14.9049	0.70711	0.0:0.0:0.6157:0.3843	.	2907	P04114	APOB_HUMAN	C	2907	ENSP00000233242:R2907C	ENSP00000233242:R2907C	R	-	1	0	APOB	21084526	0.003000	0.15002	0.012000	0.15200	0.471000	0.32888	0.929000	0.28844	0.563000	0.29222	0.555000	0.69702	CGC		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
ALK	238	broad.mit.edu	37	2	29443572	29443572	+	Splice_Site	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:29443572C>T	ENST00000389048.3	-	23	4551	c.3645G>A	c.(3643-3645)ccG>ccA	p.P1215P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TCTCACTCACCGGGCGAGGGC	0.612			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(3643-3645)CCG>CCA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						43.0	42.0	42.0					2																	29443572		2203	4300	6503	SO:0001630	splice_region_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29443572C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3645+1G>A	2.37:g.29443572C>T						ALK_uc010ymo.1_Silent_p.P147P	p.P1215P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			23	4552	-	Acute lymphoblastic leukemia(172;0.155)		1215			Protein kinase.|Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.3645G>A	CCDS33172.1																																																																																				0.612	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	Silent
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						uc010ywi.1																			4	Substitution - coding silent(4)		kidney(2)|endometrium(2)	ovary(1)	1						c.(2314-2316)GCG>GCA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T							p.A772A	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			16	2373	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	
POTEF	728378	broad.mit.edu	37	2	130877830	130877830	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:130877830C>T	ENST00000409914.2	-	3	658	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEF_ENST00000357462.5_Missense_Mutation_p.D87N|POTEF_ENST00000360967.5_Missense_Mutation_p.D87N|POTEF_ENST00000361163.4_Missense_Mutation_p.D87N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	87					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGAGTCGTCGTGGTCTCCA	0.602																																						uc010fmh.2																			0				skin(3)|ovary(2)	5						c.(259-261)GAC>AAC		prostate, ovary, testis expressed protein on							91.0	119.0	109.0					2																	130877830		2203	4294	6497	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877830C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.259G>A	2.37:g.130877830C>T	ENSP00000386786:p.Asp87Asn						p.D87N	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	659	-			87					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.259G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.850	0.526176	0.13066	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78246	-1.16;-1.16;1.66;1.63	0.62	-0.532	0.11890	.	.	.	.	.	T	0.64148	0.2572	L	0.61218	1.895	0.09310	N	1	D	0.57571	0.98	B	0.32149	0.141	T	0.58255	-0.7668	8	0.87932	D	0	.	.	.	.	.	87	A5A3E0	POTEF_HUMAN	N	87	ENSP00000350052:D87N;ENSP00000386786:D87N;ENSP00000354232:D87N;ENSP00000355012:D87N	ENSP00000350052:D87N	D	-	1	0	POTEF	130594300	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.245000	0.08890	-0.259000	0.09432	0.164000	0.16699	GAC		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
POTEE	445582	broad.mit.edu	37	2	131976234	131976234	+	Missense_Mutation	SNP	G	G	A	rs552165126		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:131976234G>A	ENST00000356920.5	+	1	353	c.259G>A	c.(259-261)Gac>Aac	p.D87N	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.D87N|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	87					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGGAGACCACGACGACTCTGC	0.602													g|||	1	0.000199681	0.0	0.0	5008	,	,		13857	0.001		0.0	False		,,,				2504	0.0					uc002tsn.2																			0					0						c.(259-261)GAC>AAC		protein expressed in prostate, ovary, testis,							62.0	63.0	63.0					2																	131976234		2200	4280	6480	SO:0001583	missense	445582						ATP binding	g.chr2:131976234G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.259G>A	2.37:g.131976234G>A	ENSP00000439189:p.Asp87Asn					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.D87N	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			1	311	+			87					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.259G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	11.57	1.677565	0.29783	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.78246	-1.16;1.51	0.619	-0.535	0.11879	.	.	.	.	.	T	0.55289	0.1911	L	0.29908	0.895	0.09310	N	1	D	0.57571	0.98	B	0.32149	0.141	T	0.52305	-0.8593	8	0.87932	D	0	.	.	.	.	.	87	Q6S8J3	POTEE_HUMAN	N	87	ENSP00000439189:D87N;ENSP00000443049:D87N	ENSP00000439189:D87N	D	+	1	0	AC131180.1	131692704	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.651000	0.05372	-0.261000	0.09405	0.162000	0.16502	GAC		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
SCN1A	6323	broad.mit.edu	37	2	166850722	166850722	+	Missense_Mutation	SNP	G	G	A	rs121917993		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:166850722G>A	ENST00000303395.4	-	25	4785	c.4786C>T	c.(4786-4788)Cgc>Tgc	p.R1596C	SCN1A_ENST00000423058.2_Missense_Mutation_p.R1596C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1585C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1568C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1596			R -> C (probable disease-associated mutation found in a patient with cryptogenic focal epilepsy; dbSNP:rs121917993). {ECO:0000269|PubMed:17347258}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1585C(1)|p.R1596C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATAATGGCGTAGAGAGATG	0.338																																						uc010zcz.1																			2	Substitution - Missense(2)		endometrium(2)	ovary(6)|skin(6)|large_intestine(1)	13	GRCh37	CM071991	SCN1A	M	rs121917993	c.(4753-4755)CGC>TGC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	100.0	81.0	87.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4786,4702,4786,4753	5.9	1.0	2	dbSNP_133	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1596/2010,1568/1982,1596/2010,1585/1999	166850722	1,13005	2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850722G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4786C>T	2.37:g.166850722G>A	ENSP00000303540:p.Arg1596Cys						p.R1585C	NM_006920	NP_008851	P35498	SCN1A_HUMAN			25	4771	-			1596			IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4753C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014277	0.93404	0.0	1.16E-4	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98525	1.0625	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1585	P35498-2	.	C	1596;1596;1585;1568	ENSP00000407030:R1596C;ENSP00000303540:R1596C;ENSP00000364554:R1585C;ENSP00000386312:R1568C	ENSP00000303540:R1596C	R	-	1	0	SCN1A	166558968	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.699000	0.84547	2.788000	0.95919	0.650000	0.86243	CGC		0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
TTN	7273	broad.mit.edu	37	2	179587016	179587016	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:179587016C>T	ENST00000591111.1	-	75	21771	c.21547G>A	c.(21547-21549)Gca>Aca	p.A7183T	TTN_ENST00000342992.6_Missense_Mutation_p.A6256T|TTN_ENST00000589042.1_Missense_Mutation_p.A7500T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12754	Ig-like 53.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGAAGATGCTGTTCCAAGT	0.408																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18766-18768)GCA>ACA		titin isoform N2-A							54.0	53.0	54.0					2																	179587016		1897	4118	6015	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587016C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21547G>A	2.37:g.179587016C>T	ENSP00000465570:p.Ala7183Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2917T	p.A6256T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	18990	-			7183					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18766G>A		.	.	.	.	.	.	.	.	.	.	C	11.71	1.719529	0.30503	.	.	ENSG00000155657	ENST00000342992	T	0.68903	-0.36	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63343	0.2503	L	0.51914	1.62	0.80722	D	1	P	0.43542	0.81	B	0.35413	0.202	T	0.68318	-0.5440	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7183	Q8WZ42	TITIN_HUMAN	T	6256	ENSP00000343764:A6256T	ENSP00000343764:A6256T	A	-	1	0	TTN	179295261	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.980000	0.56895	2.937000	0.99478	0.650000	0.86243	GCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
UBE2E3	10477	broad.mit.edu	37	2	181846854	181846854	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:181846854G>A	ENST00000410062.4	+	2	478	c.85G>A	c.(85-87)Gct>Act	p.A29T	UBE2E3_ENST00000602959.1_Missense_Mutation_p.A29T|UBE2E3_ENST00000602710.1_Missense_Mutation_p.A29T|UBE2E3_ENST00000392415.2_Missense_Mutation_p.A29T|AC104076.3_ENST00000428080.1_RNA|UBE2E3_ENST00000602475.1_Missense_Mutation_p.A29T|UBE2E3_ENST00000602632.1_Missense_Mutation_p.A29T	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	29					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						AGACCCAGCCGCTCCAGAGCC	0.507																																						uc002unq.1																			0				ovary(1)	1						c.(85-87)GCT>ACT		ubiquitin-conjugating enzyme E2E 3							43.0	52.0	49.0					2																	181846854		2202	4281	6483	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181846854G>A	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.85G>A	2.37:g.181846854G>A	ENSP00000386788:p.Ala29Thr					UBE2E3_uc002unr.1_Missense_Mutation_p.A29T|UBE2E3_uc010fri.1_Missense_Mutation_p.A29T	p.A29T	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN			3	304	+			29					B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.85G>A	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583886	0.28268	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000409513;ENST00000426294;ENST00000409247;ENST00000409596	T;T	0.49432	0.78;0.78	5.15	4.27	0.50696	.	0.084010	0.49916	D	0.000136	T	0.24160	0.0585	N	0.08118	0	0.43164	D	0.994956	B	0.18610	0.029	B	0.12837	0.008	T	0.14172	-1.0482	10	0.02654	T	1	.	13.7959	0.63171	0.0743:0.0:0.9257:0.0	.	29	Q969T4	UB2E3_HUMAN	T	29	ENSP00000376215:A29T;ENSP00000386788:A29T	ENSP00000376215:A29T	A	+	1	0	UBE2E3	181555099	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.531000	0.60602	1.309000	0.44985	0.655000	0.94253	GCT		0.507	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357	
HIBCH	26275	broad.mit.edu	37	2	191110923	191110923	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:191110923C>T	ENST00000359678.5	-	10	1060	c.766G>A	c.(766-768)Gac>Aac	p.D256N	HIBCH_ENST00000392332.3_Missense_Mutation_p.D256N|HIBCH_ENST00000410045.1_Missense_Mutation_p.D33N	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	256					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AAAGACTTGTCTCGATCAATC	0.254																																						uc002uru.2																			0					0						c.(766-768)GAC>AAC		3-hydroxyisobutyryl-Coenzyme A hydrolase isoform							78.0	76.0	77.0					2																	191110923		2199	4294	6493	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191110923C>T	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.766G>A	2.37:g.191110923C>T	ENSP00000352706:p.Asp256Asn					HIBCH_uc002urv.2_Missense_Mutation_p.D256N	p.D256N	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		10	849	-			256					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.766G>A	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731929	0.30684	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000410045;ENST00000416732;ENST00000409820	T;T	0.66460	-0.21;0.34	4.73	4.73	0.59995	.	0.619925	0.18678	N	0.134241	T	0.54127	0.1839	L	0.29908	0.895	0.44780	D	0.997781	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46952	-0.9154	10	0.19590	T	0.45	-0.3797	15.3438	0.74317	0.0:1.0:0.0:0.0	.	256;256	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	N	256;256;33;7;36	ENSP00000376144:D256N;ENSP00000352706:D256N	ENSP00000352706:D256N	D	-	1	0	HIBCH	190819168	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	5.283000	0.65621	2.610000	0.88304	0.655000	0.94253	GAC		0.254	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1		
HELZ2	85441	broad.mit.edu	37	20	62198405	62198405	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr20:62198405C>T	ENST00000467148.1	-	6	2375	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	HELZ2_ENST00000427522.2_Missense_Mutation_p.G200D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	769	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGGAACCTTGCCCCTGGCGTG	0.652																																						uc002yfm.2																			0				central_nervous_system(2)	2						c.(2305-2307)GGC>GAC		PPAR-alpha interacting complex protein 285							64.0	60.0	61.0					20																	62198405		2203	4300	6503	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198405C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2306G>A	20.37:g.62198405C>T	ENSP00000417401:p.Gly769Asp					PRIC285_uc002yfl.1_Missense_Mutation_p.G200D	p.G769D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	3198	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		769					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2306G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269265	0.59540	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.92099	-2.97;-2.97	5.32	5.32	0.75619	.	0.183801	0.48286	D	0.000188	D	0.95639	0.8582	M	0.76727	2.345	0.46167	D	0.998909	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.93842	0.7137	10	0.22706	T	0.39	-46.9544	18.9883	0.92780	0.0:1.0:0.0:0.0	.	769;200	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	D	200;769	ENSP00000393257:G200D;ENSP00000417401:G769D	ENSP00000393257:G200D	G	-	2	0	RP4-697K14.7	61668849	1.000000	0.71417	0.961000	0.40146	0.013000	0.08279	3.441000	0.52893	2.502000	0.84385	0.561000	0.74099	GGC		0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
KRTAP20-2	337976	broad.mit.edu	37	21	32007617	32007617	+	Missense_Mutation	SNP	G	G	A	rs551484598	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:32007617G>A	ENST00000330798.2	+	1	63	c.35G>A	c.(34-36)cGt>cAt	p.R12H		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGTGGTCTGCGTTATGGCTAT	0.522													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.002					uc011adg.1																			0				central_nervous_system(1)	1						c.(34-36)CGT>CAT		keratin associated protein 20-2							191.0	156.0	168.0					21																	32007617		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007617G>A	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.35G>A	21.37:g.32007617G>A	ENSP00000330746:p.Arg12His						p.R12H	NM_181616	NP_853647	Q3LI61	KR202_HUMAN			1	35	+			12						Missense_Mutation	SNP	ENST00000330798.2	37	c.35G>A	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127897	0.20959	.	.	ENSG00000184032	ENST00000330798	T	0.09630	2.96	3.45	3.45	0.39498	.	0.000000	0.40908	U	0.000993	T	0.07773	0.0195	.	.	.	0.09310	N	1	P	0.50710	0.938	B	0.35770	0.21	T	0.30179	-0.9987	9	0.87932	D	0	.	10.6113	0.45423	0.0:0.0:1.0:0.0	.	12	Q3LI61	KR202_HUMAN	H	12	ENSP00000330746:R12H	ENSP00000330746:R12H	R	+	2	0	KRTAP20-2	30929488	0.000000	0.05858	0.009000	0.14445	0.016000	0.09150	0.136000	0.15974	1.940000	0.56252	0.655000	0.94253	CGT		0.522	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3		
ICOSLG	23308	broad.mit.edu	37	21	45657002	45657002	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:45657002C>T	ENST00000407780.3	-	3	281	c.154G>A	c.(154-156)Gta>Ata	p.V52I	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V52I|ICOSLG_ENST00000344330.4_Missense_Mutation_p.V52I	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	52	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCAATATACGTAAACATCA	0.522																																						uc002zee.2																			0					0						c.(154-156)GTA>ATA		inducible T-cell co-stimulator ligand precursor							91.0	105.0	100.0					21																	45657002		2112	4229	6341	SO:0001583	missense	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45657002C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.154G>A	21.37:g.45657002C>T	ENSP00000384432:p.Val52Ile					ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Missense_Mutation_p.V52I	p.V52I	NM_015259	NP_056074	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	288	-			52			Ig-like V-type.|Extracellular (Potential).		A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	c.154G>A	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828831	0.50845	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.64618	-0.11;-0.11;-0.11	5.01	4.02	0.46733	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140516	0.32258	N	0.006349	T	0.60560	0.2278	L	0.49126	1.545	0.32064	N	0.595341	D;D	0.56746	0.977;0.977	P;P	0.50270	0.636;0.636	T	0.65290	-0.6204	10	0.27785	T	0.31	-19.6433	9.7457	0.40446	0.0:0.8913:0.0:0.1087	.	52;52	A0N0L8;O75144	.;ICOSL_HUMAN	I	52	ENSP00000339477:V52I;ENSP00000384432:V52I;ENSP00000383230:V52I	ENSP00000339477:V52I	V	-	1	0	ICOSLG	44481430	0.170000	0.23016	0.019000	0.16419	0.007000	0.05969	1.262000	0.32992	1.266000	0.44231	0.655000	0.94253	GTA		0.522	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259	
TSPEAR	54084	broad.mit.edu	37	21	45945664	45945664	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:45945664A>G	ENST00000323084.4	-	8	1273	c.1208T>C	c.(1207-1209)aTt>aCt	p.I403T	TSPEAR_ENST00000397916.1_Missense_Mutation_p.I335T|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	403					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCATTTGTAAATGACAGAGAA	0.522																																						uc002zfe.1																			0					0						c.(1207-1209)ATT>ACT		chromosome 21 open reading frame 29 precursor							181.0	182.0	182.0					21																	45945664		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45945664A>G	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1208T>C	21.37:g.45945664A>G	ENSP00000321987:p.Ile403Thr					C21orf29_uc010gpv.1_Missense_Mutation_p.I335T	p.I403T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			8	1274	-			403			EAR 2.			Missense_Mutation	SNP	ENST00000323084.4	37	c.1208T>C	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129495	0.77549	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	D;D	0.86497	-2.13;-2.13	4.46	4.46	0.54185	.	0.049501	0.85682	D	0.000000	D	0.92818	0.7716	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.93778	0.7081	10	0.87932	D	0	-12.4328	14.0529	0.64749	1.0:0.0:0.0:0.0	.	403	Q8WU66	TSEAR_HUMAN	T	403;256;335;404	ENSP00000321987:I403T;ENSP00000381012:I335T	ENSP00000321987:I403T	I	-	2	0	TSPEAR	44770092	1.000000	0.71417	0.984000	0.44739	0.965000	0.64279	8.420000	0.90256	1.787000	0.52448	0.482000	0.46254	ATT		0.522	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
PCBP3	54039	broad.mit.edu	37	21	47355174	47355174	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:47355174C>T	ENST00000400314.1	+	14	1202	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_ENST00000449640.1_Silent_p.D288D|PCBP3_ENST00000400304.1_Silent_p.D278D|PRED62_ENST00000593412.1_5'Flank|PCBP3_ENST00000400310.1_Silent_p.D268D|PCBP3_ENST00000400308.1_Silent_p.D262D|PCBP3_ENST00000400309.1_Silent_p.D287D			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	288					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577																																						uc002zhq.1																			0				skin(1)	1						c.(862-864)GAC>GAT		poly(rC) binding protein 3 isoform 1							58.0	68.0	65.0					21																	47355174		2071	4206	6277	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47355174C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.864C>T	21.37:g.47355174C>T						PCBP3_uc010gqb.2_Silent_p.D288D|PCBP3_uc002zhp.1_Silent_p.D268D|PCBP3_uc002zhs.1_Silent_p.D262D|PCBP3_uc002zhr.1_Silent_p.D287D|PCBP3_uc002zht.1_Silent_p.D278D	p.D288D	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	12	989	+	all_hematologic(128;0.24)		288					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.864C>T	CCDS42974.2																																																																																				0.577	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2		
RFPL2	10739	broad.mit.edu	37	22	32586778	32586778	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32586778C>T	ENST00000400237.1	-	5	2053	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.R283H|RFPL2_ENST00000248980.4_Missense_Mutation_p.R312H|RFPL2_ENST00000248983.4_Missense_Mutation_p.R283H			O75678	RFPL2_HUMAN	ret finger protein-like 2	373							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTCCCCAGGACGGACTGGAGC	0.463																																						uc003amg.3																			0				skin(1)	1						c.(1117-1119)CGT>CAT		ret finger protein-like 2 isoform 2							75.0	84.0	81.0					22																	32586778		2184	4276	6460	SO:0001583	missense	10739						zinc ion binding	g.chr22:32586778C>T	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.1118G>A	22.37:g.32586778C>T	ENSP00000383096:p.Arg373His					RFPL2_uc003ame.3_Missense_Mutation_p.R312H|RFPL2_uc003amf.3_Missense_Mutation_p.R283H|RFPL2_uc003amh.3_Missense_Mutation_p.R283H	p.R373H	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	2054	-			373						Missense_Mutation	SNP	ENST00000400237.1	37	c.1118G>A	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	c	0.385	-0.926459	0.02377	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.55588	0.62;0.62;0.62;0.51	0.582	0.582	0.17412	.	.	.	.	.	T	0.15219	0.0367	N	0.00436	-1.5	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.23440	-1.0188	8	0.19590	T	0.45	.	.	.	.	.	373;312	O75678;O75678-3	RFPL2_HUMAN;.	H	312;283;283;373	ENSP00000248980:R312H;ENSP00000248983:R283H;ENSP00000383095:R283H;ENSP00000383096:R373H	ENSP00000248980:R312H	R	-	2	0	RFPL2	30916778	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.484000	0.00980	-0.382000	0.07870	-0.773000	0.03387	CGT		0.463	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605	
RFPL3	10738	broad.mit.edu	37	22	32756800	32756800	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32756800G>A	ENST00000249007.4	+	2	1140	c.935G>A	c.(934-936)cGt>cAt	p.R312H	RFPL3_ENST00000382088.3_Missense_Mutation_p.R283H|RFPL3_ENST00000397468.1_Missense_Mutation_p.R283H|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000400234.1_Missense_Mutation_p.R80W|RFPL3S_ENST00000382084.4_Missense_Mutation_p.R51W	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	312							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCTCCAGTCCGTCCTGGGGAG	0.458																																						uc003amj.2																			0				ovary(1)	1						c.(934-936)CGT>CAT		ret finger protein-like 3 isoform 1							50.0	52.0	51.0					22																	32756800		2181	4269	6450	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756800G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.935G>A	22.37:g.32756800G>A	ENSP00000249007:p.Arg312His					RFPL3_uc010gwn.2_Missense_Mutation_p.R283H|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	p.R312H	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			2	1140	+			312					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.935G>A	CCDS43011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.216|0.216	-1.032270|-1.032270	0.02029|0.02029	.|.	.|.	ENSG00000128276|ENSG00000205853	ENST00000397468;ENST00000249007;ENST00000382088|ENST00000382084;ENST00000400234	T;T;T|.	0.52983|.	0.64;0.64;0.64|.	0.704|0.704	-0.595|-0.595	0.11660|0.11660	.|.	.|.	.|.	.|.	.|.	T|T	0.07324|0.07324	0.0185|0.0185	N|N	0.00538|0.00538	-1.39|-1.39	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.24440|0.24440	-1.0160|-1.0160	8|5	0.30078|0.87932	T|D	0.28|0	.|.	.|.	.|.	.|.	.|.	312|.	O75679|.	RFPL3_HUMAN|.	H|W	283;312;283|51;80	ENSP00000380609:R283H;ENSP00000249007:R312H;ENSP00000371520:R283H|.	ENSP00000249007:R312H|ENSP00000371516:R51W	R|R	+|-	2|1	0|2	RFPL3|RFPL3-AS1	31086800|31086800	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.040000|0.040000	0.13550|0.13550	-3.444000|-3.444000	0.00469|0.00469	-0.333000|-0.333000	0.08476|0.08476	-1.328000|-1.328000	0.01277|0.01277	CGT|CGG		0.458	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604	
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						uc003bcj.1																			0				ovary(4)|skin(1)	5						c.(532-537)CAGCAA>CAA		transcription factor 20 isoform 1																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q|TCF20_uc003bnt.2_In_Frame_Del_p.178_179QQ>Q	p.178_179QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	668_670	-			178_179			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
NBEAL2	23218	broad.mit.edu	37	3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:47041457C>T	ENST00000450053.3	+	27	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1290					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637																																						uc003cqp.2																			0				ovary(1)	1						c.(3868-3870)CGG>TGG		neurobeachin-like 2							26.0	31.0	30.0					3																	47041457		2182	4282	6464	SO:0001583	missense	23218						binding	g.chr3:47041457C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3868C>T	3.37:g.47041457C>T	ENSP00000415034:p.Arg1290Trp					NBEAL2_uc010hjm.1_Intron|NBEAL2_uc010hjn.1_5'Flank	p.R1290W	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4047	+		Acute lymphoblastic leukemia(5;0.0534)	1290					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.3868C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946905	0.73672	.	.	ENSG00000160796	ENST00000450053	T	0.63913	-0.07	5.5	5.5	0.81552	.	.	.	.	.	T	0.73133	0.3548	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	T	0.75368	-0.3342	9	0.87932	D	0	.	11.9139	0.52755	0.174:0.826:0.0:0.0	.	1290	Q6ZNJ1	NBEL2_HUMAN	W	1290	ENSP00000415034:R1290W	ENSP00000415034:R1290W	R	+	1	2	NBEAL2	47016461	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.309000	0.59135	2.580000	0.87095	0.561000	0.74099	CGG		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
AMT	275	broad.mit.edu	37	3	49459869	49459870	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:49459869_49459870insA	ENST00000273588.3	-	1	316_317	c.14_15insT	c.(13-15)gtafs	p.V5fs	AMT_ENST00000538581.1_Frame_Shift_Ins_p.V5fs|AMT_ENST00000395338.2_Frame_Shift_Ins_p.V5fs|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_5'UTR|NICN1_ENST00000422593.1_5'Flank|AMT_ENST00000458307.2_Frame_Shift_Ins_p.V5fs	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	5					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CCACCACACTTACAGCCCTCTG	0.639																																						uc003cww.2																			0				ovary(1)	1						c.(13-15)GTAfs		aminomethyltransferase isoform 1 precursor	NADH(DB00157)|Tetrahydrofolic acid(DB00116)		,,,,	1,4265		0,1,2132					,,,,	1.9	0.0			45	0,8254		0,0,4127	no	utr-3,frameshift,frameshift,frameshift,frameshift	AMT,NICN1	NM_032316.3,NM_001164712.1,NM_001164711.1,NM_001164710.1,NM_000481.3	,,,,	0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080	,,,,	,,,,		1,12519				SO:0001589	frameshift_variant	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49459869_49459870insA	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.15dupT	3.37:g.49459870_49459870dupA	ENSP00000273588:p.Val5fs					AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Frame_Shift_Ins_p.V5fs|AMT_uc011bco.1_Frame_Shift_Ins_p.V5fs|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Frame_Shift_Ins_p.V5fs|NICN1_uc003cwz.1_3'UTR	p.V5fs	NM_000481	NP_000472	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	143_144	-			5					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Frame_Shift_Ins	INS	ENST00000273588.3	37	c.14_15insT	CCDS2797.1																																																																																				0.639	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481	
CACNA2D2	9254	broad.mit.edu	37	3	50414925	50414925	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:50414925G>T	ENST00000479441.1	-	17	1598	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D533E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D464E|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D533E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D533E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D533E|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.D533E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D533E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	533	Cache.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCCTCTTGATGTCATTCAGAG	0.597																																						uc003daq.2																			0				lung(1)	1						c.(1597-1599)GAC>GAA		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						97.0	66.0	77.0					3																	50414925		2203	4299	6502	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50414925G>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1599C>A	3.37:g.50414925G>T	ENSP00000418081:p.Asp533Glu					CACNA2D2_uc003dap.2_Missense_Mutation_p.D533E	p.D533E	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	17	1637	-			533			Cache.|Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.1599C>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	G	8.884	0.952370	0.18431	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.04706	3.57;3.57;3.58;3.57;3.57;3.58;3.58;3.57	5.35	4.27	0.50696	Cache (1);	0.057376	0.64402	D	0.000002	T	0.02929	0.0087	N	0.10809	0.05	0.39769	D	0.972134	B;B	0.23128	0.08;0.058	B;B	0.29267	0.1;0.06	T	0.29761	-1.0001	10	0.02654	T	1	-31.9314	13.6633	0.62380	0.0907:0.0:0.9093:0.0	.	533;533	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	E	533;533;533;464;533;533;533;533	ENSP00000407393:D533E;ENSP00000404631:D533E;ENSP00000266039:D533E;ENSP00000354228:D464E;ENSP00000390526:D533E;ENSP00000378519:D533E;ENSP00000390329:D533E;ENSP00000418081:D533E	ENSP00000266039:D533E	D	-	3	2	CACNA2D2	50389929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.100000	0.31025	2.489000	0.83994	0.585000	0.79938	GAC		0.597	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	
NR1I2	8856	broad.mit.edu	37	3	119536025	119536025	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:119536025T>C	ENST00000337940.4	+	9	1436	c.1388T>C	c.(1387-1389)cTc>cCc	p.L463P	NR1I2_ENST00000393716.2_Missense_Mutation_p.L424P|NR1I2_ENST00000466380.1_Missense_Mutation_p.L387P	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	424					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCTACGCCCCTCATGCAGGAG	0.622																																						uc003edj.2																			0				ovary(2)	2						c.(1270-1272)CTC>CCC		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						95.0	92.0	93.0					3																	119536025		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119536025T>C	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1388T>C	3.37:g.119536025T>C	ENSP00000336528:p.Leu463Pro					NR1I2_uc003edi.2_Missense_Mutation_p.L387P|NR1I2_uc003edk.2_Missense_Mutation_p.L463P|NR1I2_uc003edl.2_Missense_Mutation_p.L312P	p.L424P	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	9	3110	+			424			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.1271T>C	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196962	0.79015	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.98717	-5.09;-5.09;-5.09	4.68	4.68	0.58851	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.64402	D	0.000001	D	0.99080	0.9684	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99537	1.0962	10	0.87932	D	0	.	12.1147	0.53858	0.0:0.0:0.0:1.0	.	424;463;410	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	P	424;387;463	ENSP00000377319:L424P;ENSP00000420297:L387P;ENSP00000336528:L463P	ENSP00000336528:L463P	L	+	2	0	NR1I2	121018715	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	6.032000	0.70918	1.952000	0.56665	0.482000	0.46254	CTC		0.622	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1		
CSTA	1475	broad.mit.edu	37	3	122060340	122060340	+	Missense_Mutation	SNP	G	G	A	rs201579531		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:122060340G>A	ENST00000264474.3	+	3	272	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	75					keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AAGTCTTCCCGGACAAAATGA	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18003	0.0		0.0	False		,,,				2504	0.0				Pancreas(26;157 1503 12440)	uc003eex.2																			0					0						c.(223-225)GGA>AGA		cystatin A		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	109.0	110.0	110.0		223	-1.5	0.0	3		110	0,8600		0,0,4300	yes	missense	CSTA	NM_005213.3	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	75/99	122060340	1,13005	2203	4300	6503	SO:0001583	missense	1475				keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	g.chr3:122060340G>A		CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.223G>A	3.37:g.122060340G>A	ENSP00000264474:p.Gly75Arg						p.G75R	NM_005213	NP_005204	P01040	CYTA_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	3	352	+			75					Q6IB90	Missense_Mutation	SNP	ENST00000264474.3	37	c.223G>A	CCDS3011.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.19	1.282756	0.23392	2.27E-4	0.0	ENSG00000121552	ENST00000264474	T	0.26810	1.71	5.21	-1.48	0.08745	Proteinase inhibitor I25, cystatin (2);	0.682204	0.15443	N	0.262115	T	0.12817	0.0311	.	.	.	0.26762	N	0.969982	B	0.21753	0.06	B	0.17722	0.019	T	0.21965	-1.0230	9	0.27082	T	0.32	-0.7666	5.9819	0.19411	0.0895:0.4556:0.353:0.1018	.	75	P01040	CYTA_HUMAN	R	75	ENSP00000264474:G75R	ENSP00000264474:G75R	G	+	1	0	CSTA	123543030	0.046000	0.20272	0.029000	0.17559	0.001000	0.01503	0.091000	0.15046	-0.146000	0.11274	-0.913000	0.02753	GGA		0.378	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213	
CLSTN2	64084	broad.mit.edu	37	3	140178466	140178466	+	Silent	SNP	C	C	T	rs369133728		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:140178466C>T	ENST00000458420.3	+	7	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68L1.1_ENST00000483759.2_RNA|RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	359					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1075-1077)GAC>GAT		calsyntenin 2 precursor		C		0,4406		0,0,2203	80.0	69.0	73.0		1077	-10.8	0.1	3		73	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CLSTN2	NM_022131.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		359/956	140178466	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178466C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1077C>T	3.37:g.140178466C>T		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Silent_p.D359D	p.D359D	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			7	1267	+			359			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1077C>T	CCDS3112.1																																																																																				0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
ETV5	2119	broad.mit.edu	37	3	185766628	185766628	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:185766628A>G	ENST00000306376.5	-	13	1579	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	ETV5_ENST00000434744.1_Missense_Mutation_p.Y445H|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.Y487H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	445					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACAAATTTGTAGACGTATCGC	0.562			T	"""TMPRSS2, SCL45A3"""	Prostate																																	uc003fpz.2				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	TMPRSS2|SCL45A3		Prostate 		0		p.Y445C(2)		ovary(2)|skin(2)|breast(1)	5						c.(1333-1335)TAC>CAC		ets variant gene 5 (ets-related molecule)							59.0	51.0	54.0					3																	185766628		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185766628A>G	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1333T>C	3.37:g.185766628A>G	ENSP00000306894:p.Tyr445His					ETV5_uc003fpy.2_Missense_Mutation_p.Y487H	p.Y445H	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		13	1580	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		445			ETS.		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1333T>C	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163137	0.78226	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.75050	-0.9;-0.9;-0.9	5.85	5.85	0.93711	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	H	0.95079	3.62	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92946	0.6376	10	0.87932	D	0	.	15.2181	0.73285	1.0:0.0:0.0:0.0	.	445;487	P41161;B7Z7D7	ETV5_HUMAN;.	H	445;445;487	ENSP00000306894:Y445H;ENSP00000413755:Y445H;ENSP00000441737:Y487H	ENSP00000306894:Y445H	Y	-	1	0	ETV5	187249322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.238000	0.73509	0.533000	0.62120	TAC		0.562	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
SST	6750	broad.mit.edu	37	3	187387016	187387016	+	Missense_Mutation	SNP	G	G	A	rs149673471	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:187387016G>A	ENST00000287641.3	-	2	295	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	63					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	ATCATTCTCCGTCTGGTTGGG	0.517													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15728	0.0		0.0	False		,,,				2504	0.0					uc003frn.2																			0				pancreas(1)	1						c.(187-189)ACG>ATG		somatostatin preproprotein	Bromocriptine(DB01200)|Cysteamine(DB00847)	G	MET/THR	7,4399	12.9+/-30.5	0,7,2196	238.0	219.0	225.0		188	5.5	1.0	3	dbSNP_134	225	0,8600		0,0,4300	yes	missense	SST	NM_001048.3	81	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging	63/117	187387016	7,12999	2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187387016G>A		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.188C>T	3.37:g.187387016G>A	ENSP00000287641:p.Thr63Met						p.T63M	NM_001048	NP_001039	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	310	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		63					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.188C>T	CCDS3288.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.53	2.860530	0.51482	0.001589	0.0	ENSG00000157005	ENST00000287641	T	0.32988	1.43	5.51	5.51	0.81932	.	0.150676	0.64402	D	0.000011	T	0.31734	0.0806	L	0.60455	1.87	0.47009	D	0.999287	P	0.46220	0.874	B	0.35971	0.215	T	0.26950	-1.0088	10	0.62326	D	0.03	-18.0111	18.402	0.90519	0.0:0.0:1.0:0.0	.	63	P61278	SMS_HUMAN	M	63	ENSP00000287641:T63M	ENSP00000287641:T63M	T	-	2	0	SST	188869710	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	6.177000	0.71961	2.587000	0.87381	0.305000	0.20034	ACG		0.517	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048	
ZNF718	255403	broad.mit.edu	37	4	155819	155819	+	lincRNA	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:155819T>G	ENST00000510175.1	+	0	1254							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACACTGTAGATAAACCCTACA	0.353																																						uc003fzt.3																			0					0						c.(1342-1344)GAT>GAG		zinc finger protein 718							30.0	33.0	32.0					4																	155819		2058	4234	6292			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155819T>G	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155819T>G						ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_3'UTR	p.D448E	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	1477	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	448					Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37	c.1344T>G																																																																																					0.353	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127	
FGFRL1	53834	broad.mit.edu	37	4	1018886	1018886	+	Silent	SNP	G	G	A	rs375150331		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:1018886G>A	ENST00000398484.2	+	8	1846	c.1266G>A	c.(1264-1266)acG>acA	p.T422T	FGFRL1_ENST00000264748.6_Silent_p.T422T|FGFRL1_ENST00000504138.1_Silent_p.T422T|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Silent_p.T422T			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	422					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCGGGGACGGCCCGCGACC	0.731																																						uc003gce.2																			0					0						c.(1264-1266)ACG>ACA		fibroblast growth factor receptor-like 1		G	,,	0,4354		0,0,2177	11.0	13.0	12.0		1266,1266,1266	-7.7	0.0	4		12	1,8473		0,1,4236	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFRL1	NM_001004356.2,NM_001004358.1,NM_021923.3	,,	0,1,6413	AA,AG,GG		0.0118,0.0,0.0078	,,	422/505,422/505,422/505	1018886	1,12827	2177	4237	6414	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018886G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1266G>A	4.37:g.1018886G>A						FGFRL1_uc003gcf.2_Silent_p.T422T|FGFRL1_uc003gcg.2_Silent_p.T422T|FGFRL1_uc010ibo.2_Silent_p.T422T	p.T422T	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1427	+			422			Cytoplasmic (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.1266G>A	CCDS3344.1																																																																																				0.731	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923	
TLR6	10333	broad.mit.edu	37	4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T	rs556706627		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:38829218C>T	ENST00000381950.1	-	1	1942	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_ENST00000436693.2_Missense_Mutation_p.R626H			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	626					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20313	0.0		0.001	False		,,,				2504	0.0					uc003gtm.2																			0				ovary(2)	2						c.(1876-1878)CGC>CAC		toll-like receptor 6 precursor							98.0	96.0	97.0					4																	38829218		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829218C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1877G>A	4.37:g.38829218C>T	ENSP00000371376:p.Arg626His					TLR6_uc010ifg.1_Missense_Mutation_p.R626H	p.R626H	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	1943	-			626			Cytoplasmic (Potential).		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1877G>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.807402	0.00606	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.09723	2.95;2.95	4.29	-8.58	0.00897	.	0.861964	0.10184	N	0.705435	T	0.05640	0.0148	N	0.16903	0.455	0.09310	N	0.999998	B	0.12013	0.005	B	0.10450	0.005	T	0.35748	-0.9776	10	0.23302	T	0.38	.	13.5409	0.61672	0.0869:0.1805:0.0:0.7327	.	626	Q9Y2C9	TLR6_HUMAN	H	626	ENSP00000389600:R626H;ENSP00000371376:R626H	ENSP00000371376:R626H	R	-	2	0	TLR6	38505613	0.000000	0.05858	0.090000	0.20809	0.079000	0.17450	-1.074000	0.03427	-2.583000	0.00461	-1.199000	0.01669	CGC		0.502	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
PITX2	5308	broad.mit.edu	37	4	111553638	111553638	+	Splice_Site	SNP	T	T	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:111553638T>A	ENST00000354925.2	-	5	1752		c.e5-2		PITX2_ENST00000355080.5_Intron|PITX2_ENST00000394598.2_Splice_Site|PITX2_ENST00000394595.3_Splice_Site	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCTGCACGCCTGGGCCACGCG	0.687																																						uc003iad.2																			0					0						c.e3-1		paired-like homeodomain transcription factor 2							38.0	49.0	45.0					4																	111553638		2201	4300	6501	SO:0001630	splice_region_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111553638T>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.47-2A>T	4.37:g.111553638T>A						PITX2_uc003iae.2_Intron|PITX2_uc010iml.2_Splice_Site|PITX2_uc003iaf.2_Splice_Site_p.G16_splice	p.G16_splice	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	3	629	-		Hepatocellular(203;0.217)						A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Splice_Site	SNP	ENST00000354925.2	37	c.47_splice	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987864	0.74589	.	.	ENSG00000164093	ENST00000394598;ENST00000354925;ENST00000394595;ENST00000511837	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8443	0.41017	0.0:0.0821:0.0:0.9179	.	.	.	.	.	-1	.	.	.	-	.	.	PITX2	111773087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.128000	0.42045	2.027000	0.59764	0.528000	0.53228	.		0.687	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2		Intron
ANK2	287	broad.mit.edu	37	4	114251595	114251595	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:114251595G>A	ENST00000357077.4	+	27	3147	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	ANK2_ENST00000509550.1_Missense_Mutation_p.E241K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1023K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1032K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1032K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1032	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCGCCTGATCGAAGTTGGACC	0.532																																						uc003ibe.3																			0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3094-3096)GAA>AAA		ankyrin 2 isoform 1							101.0	82.0	89.0					4																	114251595		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114251595G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3094G>A	4.37:g.114251595G>A	ENSP00000349588:p.Glu1032Lys					ANK2_uc003ibd.3_Missense_Mutation_p.E1023K|ANK2_uc003ibf.3_Missense_Mutation_p.E1032K|ANK2_uc011cgc.1_Missense_Mutation_p.E241K|ANK2_uc003ibg.3_Missense_Mutation_p.E60K|ANK2_uc003ibc.2_Missense_Mutation_p.E1008K|ANK2_uc011cgb.1_Missense_Mutation_p.E1047K	p.E1032K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3194	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3094G>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.438390|5.438390	0.96168|0.96168	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96|.	5.83|5.83	4.98|4.98	0.66077|0.66077	.|.	0.099964|.	0.43416|.	D|.	0.000569|.	T|T	0.67534|0.67534	0.2903|0.2903	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P|.	0.76494|.	0.999;0.999;0.987;0.999;0.968;0.593|.	D;D;P;D;P;B|.	0.69142|.	0.924;0.909;0.847;0.962;0.503;0.131|.	T|T	0.65038|0.65038	-0.6265|-0.6265	10|5	0.62326|.	D|.	0.03|.	.|.	16.8188|16.8188	0.85740|0.85740	0.0:0.1288:0.8712:0.0|0.0:0.1288:0.8712:0.0	.|.	241;77;1032;1032;1023;1023|.	E9PCH6;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;.;.;.;.;.|.	K|Q	1011;978;1023;111;1047;1032;1032;1032;1023;241|77	ENSP00000423799:E1011K;ENSP00000421011:E978K;ENSP00000421067:E1023K;ENSP00000424722:E1047K;ENSP00000378044:E1032K;ENSP00000349588:E1032K;ENSP00000264366:E1032K;ENSP00000426944:E241K|.	ENSP00000264366:E1032K|.	E|R	+|+	1|2	0|0	ANK2|ANK2	114471044|114471044	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.995000|0.995000	0.86356|0.86356	9.864000|9.864000	0.99589|0.99589	1.419000|1.419000	0.47118|0.47118	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
GPM6A	2823	broad.mit.edu	37	4	176594942	176594942	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:176594942G>C	ENST00000280187.7	-	4	321	c.276C>G	c.(274-276)ttC>ttG	p.F92L	GPM6A_ENST00000393658.2_Missense_Mutation_p.F92L|GPM6A_ENST00000506894.1_Missense_Mutation_p.F81L|GPM6A_ENST00000515090.1_Missense_Mutation_p.F85L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	92					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATACACAAAGAACGCAGCTG	0.418																																						uc003iuf.2																			0					0						c.(274-276)TTC>TTG		glycoprotein M6A isoform 2							75.0	71.0	73.0					4																	176594942		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176594942G>C		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.276C>G	4.37:g.176594942G>C	ENSP00000280187:p.Phe92Leu					GPM6A_uc011ckj.1_Missense_Mutation_p.F85L|GPM6A_uc003iug.2_Missense_Mutation_p.F92L|GPM6A_uc003iuh.2_Missense_Mutation_p.F81L	p.F92L	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	1080	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	92			Helical; (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.276C>G	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632549	0.87660	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520;ENST00000513667;ENST00000512509;ENST00000505561;ENST00000505375;ENST00000513365;ENST00000509865;ENST00000512897;ENST00000507540	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99304	-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72;-5.72	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	M	0.75615	2.305	0.80722	D	1	D;D;D	0.63046	0.979;0.979;0.992	D;D;D	0.76071	0.982;0.982;0.987	D	0.99026	1.0819	10	0.46703	T	0.11	-24.9441	15.2396	0.73458	0.0689:0.0:0.9311:0.0	.	85;81;92	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	L	92;92;81;85;84;29;29;29;29;29;29;29;92;29;29;29	ENSP00000280187:F92L;ENSP00000377268:F92L;ENSP00000421578:F81L;ENSP00000423984:F85L;ENSP00000422959:F84L;ENSP00000426984:F29L;ENSP00000426821:F29L;ENSP00000424075:F29L;ENSP00000421373:F29L;ENSP00000424443:F29L;ENSP00000425409:F29L;ENSP00000424125:F29L;ENSP00000423122:F92L;ENSP00000422712:F29L;ENSP00000425925:F29L;ENSP00000421407:F29L	ENSP00000280187:F92L	F	-	3	2	GPM6A	176831936	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.343000	0.65976	2.758000	0.94735	0.591000	0.81541	TTC		0.418	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1		
DNAH5	1767	broad.mit.edu	37	5	13809274	13809274	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:13809274G>A	ENST00000265104.4	-	46	7735	c.7631C>T	c.(7630-7632)aCg>aTg	p.T2544M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2544					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2544M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGGTACGCGTGTTCCAGTG	0.438									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(7630-7632)ACG>ATG		dynein, axonemal, heavy chain 5							163.0	152.0	156.0					5																	13809274		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13809274G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7631C>T	5.37:g.13809274G>A	ENSP00000265104:p.Thr2544Met						p.T2544M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			46	7673	-	Lung NSC(4;0.00476)		2544					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7631C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408910	0.25378	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.91	5.04	0.67666	.	0.207319	0.49305	N	0.000144	T	0.31263	0.0791	M	0.69823	2.125	0.44736	D	0.997739	B	0.16396	0.017	B	0.17433	0.018	T	0.06954	-1.0798	10	0.46703	T	0.11	.	14.189	0.65625	0.0724:0.0:0.9276:0.0	.	2544	Q8TE73	DYH5_HUMAN	M	2544	ENSP00000265104:T2544M	ENSP00000265104:T2544M	T	-	2	0	DNAH5	13862274	0.998000	0.40836	0.515000	0.27774	0.055000	0.15305	2.658000	0.46733	1.484000	0.48361	0.655000	0.94253	ACG		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
GRAMD3	65983	broad.mit.edu	37	5	125822670	125822670	+	Splice_Site	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:125822670G>T	ENST00000285689.3	+	12	1624		c.e12+1		RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000511134.1_Splice_Site|GRAMD3_ENST00000542322.1_Splice_Site|GRAMD3_ENST00000502348.1_Splice_Site|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000544396.1_Splice_Site|GRAMD3_ENST00000515200.1_Splice_Site|GRAMD3_ENST00000543198.1_Splice_Site|GRAMD3_ENST00000513040.1_Splice_Site	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3							cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ATAATACTGAGTAAGACGATT	0.403																																						uc003ktu.2																			0				central_nervous_system(1)	1						c.e12+1		GRAM domain containing 3 isoform 2							126.0	106.0	113.0					5																	125822670		2203	4300	6503	SO:0001630	splice_region_variant	65983							g.chr5:125822670G>T	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1163+1G>T	5.37:g.125822670G>T						GRAMD3_uc011cwt.1_Splice_Site_p.E403_splice|GRAMD3_uc011cwv.1_Splice_Site_p.E396_splice|GRAMD3_uc011cww.1_Splice_Site_p.E284_splice|GRAMD3_uc011cwx.1_Splice_Site|GRAMD3_uc011cwy.1_Splice_Site_p.E279_splice|GRAMD3_uc011cwz.1_Splice_Site_p.E372_splice	p.E388_splice	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	12	1593	+		Prostate(80;0.0928)						B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Splice_Site	SNP	ENST00000285689.3	37	c.1163_splice	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885633	0.51908	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.052	0.89353	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRAMD3	125850569	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	7.187000	0.77730	2.788000	0.95919	0.650000	0.86243	.		0.403	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	Intron
ADAM19	8728	broad.mit.edu	37	5	156916128	156916128	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:156916128C>T	ENST00000517905.1	-	20	2351	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	ADAM19_ENST00000257527.4_Silent_p.T769T|ADAM19_ENST00000394020.1_Silent_p.T771T|ADAM19_ENST00000430702.2_Silent_p.T502T			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	769					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCTGGGGCGTCTGCAGCT	0.483																																						uc003lwz.2																			0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2305-2307)ACG>ACA		ADAM metallopeptidase domain 19 preproprotein							82.0	78.0	80.0					5																	156916128		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156916128C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2307G>A	5.37:g.156916128C>T						ADAM19_uc003lww.1_Silent_p.T502T|ADAM19_uc003lwy.2_Silent_p.T368T|ADAM19_uc011ddr.1_Silent_p.T700T	p.T769T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		20	2371	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	769			Cytoplasmic (Potential).		Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.2307G>A		.	.	.	.	.	.	.	.	.	.	c	4.779	0.144898	0.09134	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.42449	0.1203	.	.	.	0.44966	D	0.997986	.	.	.	.	.	.	T	0.66348	-0.5946	4	.	.	.	.	6.1778	0.20453	0.1014:0.1293:0.395:0.3743	.	.	.	.	H	340	.	.	R	-	2	0	ADAM19	156848706	0.000000	0.05858	0.004000	0.12327	0.832000	0.47134	-5.569000	0.00113	-5.799000	0.00009	-0.786000	0.03341	CGC		0.483	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	
IRF4	3662	broad.mit.edu	37	6	398917	398917	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:398917G>A	ENST00000380956.4	+	6	853	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	243					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E243K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGGTCTGCCGAAGCCTTGGC	0.592			T	IGH@	MM																																	uc003msz.3				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(727-729)GAA>AAA		interferon regulatory factor 4							59.0	58.0	58.0					6																	398917		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398917G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.727G>A	6.37:g.398917G>A	ENSP00000370343:p.Glu243Lys					IRF4_uc010jne.1_Missense_Mutation_p.E243K|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.E242K|IRF4_uc003mtc.1_Missense_Mutation_p.E73K	p.E243K	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	6	840	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	243					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.727G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672905	0.67928	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97256	-4.31	5.3	5.3	0.74995	SMAD domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	L	0.50333	1.59	0.80722	D	1	B;B;P;B	0.34864	0.308;0.448;0.473;0.206	B;B;B;B	0.25614	0.047;0.058;0.062;0.048	D	0.92309	0.5856	10	0.29301	T	0.29	-21.3648	18.9759	0.92736	0.0:0.0:1.0:0.0	.	243;273;242;243	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	K	243;272	ENSP00000370343:E243K	ENSP00000370343:E243K	E	+	1	0	IRF4	343917	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	7.468000	0.80943	2.474000	0.83562	0.650000	0.86243	GAA		0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1		
F13A1	2162	broad.mit.edu	37	6	6225003	6225003	+	Missense_Mutation	SNP	C	C	T	rs199564311		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:6225003C>T	ENST00000264870.3	-	7	1154	c.889G>A	c.(889-891)Gtt>Att	p.V297I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	297					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAATGTCAACGCTTCCAGTC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		17519	0.001		0.0	False		,,,				2504	0.0					uc003mwv.2																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(889-891)GTT>ATT		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						97.0	99.0	98.0					6																	6225003		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6225003C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.889G>A	6.37:g.6225003C>T	ENSP00000264870:p.Val297Ile					F13A1_uc011dib.1_Missense_Mutation_p.V234I	p.V297I	NM_000129	NP_000120	P00488	F13A_HUMAN			7	1012	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	297					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.889G>A	CCDS4496.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	14.89	2.671441	0.47781	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.88818	-2.43	5.51	4.65	0.58169	.	0.146062	0.48767	D	0.000180	T	0.81465	0.4828	M	0.64997	1.995	0.46044	D	0.998832	B;B	0.25904	0.083;0.137	B;B	0.20184	0.017;0.028	T	0.82043	-0.0653	10	0.72032	D	0.01	.	13.2902	0.60267	0.0:0.9241:0.0:0.0759	.	234;297	F5H080;P00488	.;F13A_HUMAN	I	297;234	ENSP00000264870:V297I	ENSP00000264870:V297I	V	-	1	0	F13A1	6170002	0.996000	0.38824	0.982000	0.44146	0.764000	0.43329	2.775000	0.47702	1.322000	0.45245	0.563000	0.77884	GTT		0.488	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
JARID2	3720	broad.mit.edu	37	6	15504806	15504806	+	Missense_Mutation	SNP	G	G	T	rs183236794		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:15504806G>T	ENST00000341776.2	+	9	2768	c.2524G>T	c.(2524-2526)Gcc>Tcc	p.A842S	JARID2_ENST00000541660.1_Missense_Mutation_p.A804S|JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_Missense_Mutation_p.A670S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	842					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAGGAGCCTGCCCCAGCCGA	0.522																																						uc003nbj.2																			0				ovary(2)|lung(1)|pancreas(1)	4						c.(2524-2526)GCC>TCC		jumonji, AT rich interactive domain 2 protein							63.0	67.0	66.0					6																	15504806		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15504806G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2524G>T	6.37:g.15504806G>T	ENSP00000341280:p.Ala842Ser					JARID2_uc011div.1_Missense_Mutation_p.A670S|JARID2_uc011diw.1_Missense_Mutation_p.A804S	p.A842S	NM_004973	NP_004964	Q92833	JARD2_HUMAN			9	2768	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	842					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2524G>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861515	0.32884	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.87256	-1.62;-1.63;-2.23	5.24	5.24	0.73138	.	0.153564	0.64402	D	0.000017	T	0.47340	0.1440	N	0.01874	-0.695	0.33567	D	0.598077	B;B	0.17667	0.023;0.004	B;B	0.20955	0.032;0.01	T	0.41680	-0.9495	10	0.12103	T	0.63	-9.4296	6.8249	0.23876	0.218:0.0:0.782:0.0	.	804;842	F5H590;Q92833	.;JARD2_HUMAN	S	842;670;804	ENSP00000341280:A842S;ENSP00000380478:A670S;ENSP00000444623:A804S	ENSP00000341280:A842S	A	+	1	0	JARID2	15612785	0.997000	0.39634	0.983000	0.44433	0.955000	0.61496	3.413000	0.52686	2.435000	0.82474	0.561000	0.74099	GCC		0.522	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
KIF13A	63971	broad.mit.edu	37	6	17800257	17800257	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:17800257T>G	ENST00000259711.6	-	21	2647	c.2542A>C	c.(2542-2544)Agt>Cgt	p.S848R	KIF13A_ENST00000378814.5_Missense_Mutation_p.S848R|KIF13A_ENST00000378816.5_Missense_Mutation_p.S848R|KIF13A_ENST00000378843.2_Missense_Mutation_p.S848R|KIF13A_ENST00000378826.2_Missense_Mutation_p.S848R	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	848					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCACTTTCACTGGAATTCTCC	0.542																																						uc003ncg.3																			0				large_intestine(2)|ovary(2)	4						c.(2542-2544)AGT>CGT		kinesin family member 13A isoform a							144.0	143.0	144.0					6																	17800257		2044	4193	6237	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17800257T>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2542A>C	6.37:g.17800257T>G	ENSP00000259711:p.Ser848Arg					KIF13A_uc003ncf.2_Missense_Mutation_p.S848R|KIF13A_uc003nch.3_Missense_Mutation_p.S848R|KIF13A_uc003nci.3_Missense_Mutation_p.S848R	p.S848R	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		21	2647	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	848					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.2542A>C	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051714	0.75960	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.23	4.0	0.46444	.	0.089402	0.85682	D	0.000000	T	0.73434	0.3586	L	0.55481	1.735	0.51767	D	0.999936	B;D;P;D	0.89917	0.291;1.0;0.613;1.0	B;D;B;D	0.87578	0.159;0.998;0.179;0.997	T	0.75665	-0.3239	10	0.54805	T	0.06	.	10.9965	0.47580	0.1396:0.0:0.0:0.8604	.	848;848;848;848	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	R	848	ENSP00000368091:S848R;ENSP00000259711:S848R;ENSP00000368103:S848R;ENSP00000368120:S848R;ENSP00000368093:S848R	ENSP00000259711:S848R	S	-	1	0	KIF13A	17908236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.966000	0.63715	1.975000	0.57531	0.482000	0.46254	AGT		0.542	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
ABCC10	89845	broad.mit.edu	37	6	43415637	43415637	+	Silent	SNP	C	C	T	rs144509707		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:43415637C>T	ENST00000372530.4	+	18	4136	c.3921C>T	c.(3919-3921)gaC>gaT	p.D1307D	ABCC10_ENST00000244533.3_Silent_p.D1279D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1307	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGCTGCTGGACGGCGTGGACA	0.632																																						uc003ouy.1																			0				ovary(6)|central_nervous_system(1)	7						c.(3919-3921)GAC>GAT		ATP-binding cassette, sub-family C, member 10		C	,	2,4404	4.2+/-10.8	0,2,2201	44.0	42.0	43.0		3921,3837	-6.3	0.2	6	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ABCC10	NM_001198934.1,NM_033450.2	,	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	,	1307/1493,1279/1465	43415637	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415637C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3921C>T	6.37:g.43415637C>T						ABCC10_uc003ouz.1_Silent_p.D1279D|ABCC10_uc010jyo.1_Silent_p.D413D	p.D1307D	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		18	4136	+	all_lung(25;0.00536)		1307			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3921C>T	CCDS56430.1																																																																																				0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
ENPP4	22875	broad.mit.edu	37	6	46111073	46111073	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:46111073G>C	ENST00000321037.4	+	4	1288	c.1058G>C	c.(1057-1059)gGa>gCa	p.G353A		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	353					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCTGCCCACGGACCTGCATTT	0.388																																						uc003oxy.2																			0				ovary(3)|skin(1)	4						c.(1057-1059)GGA>GCA		ectonucleotide pyrophosphatase/phosphodiesterase							145.0	136.0	139.0					6																	46111073		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46111073G>C	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1058G>C	6.37:g.46111073G>C	ENSP00000318066:p.Gly353Ala						p.G353A	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			4	1317	+			353			Extracellular (Potential).		A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.1058G>C	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.805015	0.90623	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	D	0.82167	-1.58	5.9	5.9	0.94986	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95458	0.8540	10	0.87932	D	0	-18.4394	20.2789	0.98501	0.0:0.0:1.0:0.0	.	353	Q9Y6X5	ENPP4_HUMAN	A	353	ENSP00000318066:G353A	ENSP00000318066:G353A	G	+	2	0	ENPP4	46219032	1.000000	0.71417	0.214000	0.23707	0.993000	0.82548	9.476000	0.97823	2.788000	0.95919	0.650000	0.86243	GGA		0.388	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2		
SYNJ2	8871	broad.mit.edu	37	6	158438287	158438287	+	Missense_Mutation	SNP	C	C	T	rs143362296	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:158438287C>T	ENST00000355585.4	+	2	254	c.179C>T	c.(178-180)gCg>gTg	p.A60V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.A60V|SYNJ2_ENST00000449859.2_5'Flank|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A60V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	60					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTCACGGACGCGTACGGCTGC	0.602													C|||	3	0.000599042	0.0	0.0014	5008	,	,		14468	0.0		0.001	False		,,,				2504	0.001					uc003qqx.1																			0				skin(1)	1						c.(178-180)GCG>GTG		synaptojanin 2		C	,VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	47.0	46.0	46.0		,179	5.1	0.0	6	dbSNP_134	46	24,8576	17.9+/-57.8	0,24,4276	yes	utr-5,missense	SYNJ2	NM_001178088.1,NM_003898.3	,64	0,27,6476	TT,TC,CC		0.2791,0.0681,0.2076	,probably-damaging	,60/1497	158438287	27,12979	2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158438287C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.179C>T	6.37:g.158438287C>T	ENSP00000347792:p.Ala60Val					SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.A60V|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_5'Flank|SYNJ2_uc010kjo.1_5'Flank	p.A60V	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	2	254	+			60					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.179C>T	CCDS5254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.195097|4.195097	0.78902|0.78902	6.81E-4|6.81E-4	0.002791|0.002791	ENSG00000078269|ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585|ENST00000367113	T;T;T|.	0.57907|.	0.37;0.37;0.37|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Synaptojanin, N-terminal (1);|.	0.000000|.	0.52532|.	D|.	0.000075|.	T|T	0.59211|0.59211	0.2177|0.2177	M|M	0.77616|0.77616	2.38|2.38	0.53005|0.53005	D|D	0.999969|0.999969	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.994|.	T|T	0.62978|0.62978	-0.6739|-0.6739	10|5	0.56958|.	D|.	0.05|.	.|.	15.5159|15.5159	0.75826|0.75826	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	60;60|.	O15056;O15056-3|.	SYNJ2_HUMAN;.|.	V|C	60|35	ENSP00000356089:A60V;ENSP00000356088:A60V;ENSP00000347792:A60V|.	ENSP00000347792:A60V|.	A|R	+|+	2|1	0|0	SYNJ2|SYNJ2	158358275|158358275	0.994000|0.994000	0.37717|0.37717	0.011000|0.011000	0.14972|0.14972	0.897000|0.897000	0.52465|0.52465	4.413000|4.413000	0.59795|0.59795	-3.522000|-3.522000	0.00147|0.00147	-2.081000|-2.081000	0.00379|0.00379	GCG|CGT		0.602	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
FNDC1	84624	broad.mit.edu	37	6	159653361	159653361	+	Missense_Mutation	SNP	C	C	T	rs367899713		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:159653361C>T	ENST00000297267.9	+	11	2017	c.1817C>T	c.(1816-1818)aCg>aTg	p.T606M	FNDC1_ENST00000340366.6_Missense_Mutation_p.T543M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	606					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCTGGCCACGCAGCCCCGC	0.706																																						uc010kjv.2																			0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(1816-1818)ACG>ATG		fibronectin type III domain containing 1		C	MET/THR	1,3979		0,1,1989	19.0	24.0	22.0		1817	4.6	0.0	6		22	0,8308		0,0,4154	no	missense	FNDC1	NM_032532.2	81	0,1,6143	TT,TC,CC		0.0,0.0251,0.0081	probably-damaging	606/1895	159653361	1,12287	1990	4154	6144	SO:0001583	missense	84624					extracellular region		g.chr6:159653361C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1817C>T	6.37:g.159653361C>T	ENSP00000297267:p.Thr606Met					FNDC1_uc010kjw.1_Missense_Mutation_p.T491M	p.T606M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2017	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	606					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1817C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034230	0.35893	2.51E-4	0.0	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07444	3.19;4.01	4.64	4.64	0.57946	.	0.633028	0.15185	N	0.275895	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.12156	0.002;0.007	T	0.44034	-0.9354	10	0.66056	D	0.02	-0.4912	7.9166	0.29822	0.0:0.8854:0.0:0.1146	.	543;606	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	M	606;543	ENSP00000297267:T606M;ENSP00000342460:T543M	ENSP00000297267:T606M	T	+	2	0	FNDC1	159573351	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.746000	0.26275	2.392000	0.81423	0.591000	0.81541	ACG		0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
RPS6KA2	6196	broad.mit.edu	37	6	166844032	166844032	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:166844032C>T	ENST00000265678.4	-	16	1713	c.1490G>A	c.(1489-1491)cGc>cAc	p.R497H	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R505H|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R408H|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R408H|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R522H	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	497	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCGGAGGATGCGGTCCAGGAG	0.592																																						uc003qvb.1																			0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1489-1491)CGC>CAC		ribosomal protein S6 kinase, 90kDa, polypeptide							119.0	100.0	107.0					6																	166844032		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166844032C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1490G>A	6.37:g.166844032C>T	ENSP00000265678:p.Arg497His					RPS6KA2_uc011ego.1_Missense_Mutation_p.R408H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R408H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R505H|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R522H	p.R497H	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	16	1709	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	497			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1490G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993913	0.54041	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	3.63	3.63	0.41609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062515	0.64402	D	0.000011	T	0.62466	0.2430	L	0.39566	1.225	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	D;D;P	0.71414	0.973;0.934;0.783	T	0.63519	-0.6619	10	0.41790	T	0.15	.	14.813	0.70010	0.0:1.0:0.0:0.0	.	522;505;497	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	H	497;522;505;408;408	ENSP00000265678:R497H;ENSP00000422435:R522H;ENSP00000427015:R505H;ENSP00000422484:R408H;ENSP00000386050:R408H	ENSP00000265678:R497H	R	-	2	0	RPS6KA2	166764022	0.395000	0.25254	1.000000	0.80357	0.721000	0.41392	1.262000	0.32992	2.041000	0.60428	0.491000	0.48974	CGC		0.592	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
TTLL2	83887	broad.mit.edu	37	6	167754158	167754158	+	Missense_Mutation	SNP	G	G	A	rs34053826		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:167754158G>A	ENST00000239587.5	+	3	858	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	257	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTGATCTCCGCATCTATGTT	0.358																																						uc003qvs.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(769-771)CGC>CAC		tubulin tyrosine ligase-like family, member 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	167.0	168.0	168.0		770	2.3	0.7	6	dbSNP_126	168	0,8600		0,0,4300	yes	missense	TTLL2	NM_031949.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	257/593	167754158	1,13005	2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754158G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.770G>A	6.37:g.167754158G>A	ENSP00000239587:p.Arg257His					TTLL2_uc011egr.1_RNA	p.R257H	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	858	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	257			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.770G>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073916	0.36566	2.27E-4	0.0	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.28895	1.59	3.18	2.26	0.28386	.	0.000000	0.64402	D	0.000006	T	0.61899	0.2384	H	0.98980	4.39	0.40992	D	0.984861	D	0.89917	1.0	D	0.97110	1.0	T	0.74325	-0.3702	10	0.87932	D	0	.	10.9842	0.47513	0.0:0.1916:0.8084:0.0	rs34053826	257	Q9BWV7	TTLL2_HUMAN	H	257;184	ENSP00000239587:R257H	ENSP00000239587:R257H	R	+	2	0	TTLL2	167674148	1.000000	0.71417	0.673000	0.29887	0.111000	0.19643	5.001000	0.63946	0.613000	0.30089	0.484000	0.47621	CGC		0.358	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949	
GPR141	353345	broad.mit.edu	37	7	37780661	37780661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:37780661G>A	ENST00000447769.1	+	4	955	c.666G>A	c.(664-666)tgG>tgA	p.W222*	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Nonsense_Mutation_p.W222*|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGTTCTGGGCTCAGCTGA	0.433																																						uc003tfm.1																			0				ovary(3)	3						c.(664-666)TGG>TGA		G protein-coupled receptor 141							170.0	168.0	168.0					7																	37780661		2203	4300	6503	SO:0001587	stop_gained	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780661G>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.666G>A	7.37:g.37780661G>A	ENSP00000390410:p.Trp222*					uc003tfl.2_Intron	p.W222*	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	666	+			222			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Nonsense_Mutation	SNP	ENST00000447769.1	37	c.666G>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627377	0.87560	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	.	.	.	5.01	4.11	0.48088	.	0.140325	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-10.5362	10.0501	0.42210	0.1654:0.0:0.8346:0.0	.	.	.	.	X	222	.	ENSP00000334540:W222X	W	+	3	0	GPR141	37747186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.445000	0.44899	1.457000	0.47850	0.655000	0.94253	TGG		0.433	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791	
C7orf57	136288	broad.mit.edu	37	7	48092478	48092478	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:48092478C>A	ENST00000348904.3	+	7	999	c.787C>A	c.(787-789)Ctc>Atc	p.L263I	C7orf57_ENST00000435376.1_Missense_Mutation_p.L125I|C7orf57_ENST00000539619.1_Missense_Mutation_p.L263I|C7orf57_ENST00000430738.1_Missense_Mutation_p.L308I|C7orf57_ENST00000420324.1_Missense_Mutation_p.L292I	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	263										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGCAGCCAGGCTCCAGGATGC	0.572																																						uc003toh.3																			0				ovary(1)	1						c.(787-789)CTC>ATC		hypothetical protein LOC136288							35.0	39.0	38.0					7																	48092478		2004	4195	6199	SO:0001583	missense	136288							g.chr7:48092478C>A	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.787C>A	7.37:g.48092478C>A	ENSP00000335500:p.Leu263Ile					C7orf57_uc003toi.3_Missense_Mutation_p.L121I	p.L263I	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			7	999	+			263					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.787C>A	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605389	0.28623	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.47177	0.85;0.85;0.92;0.92	5.35	-2.9	0.05648	.	1.264590	0.05289	N	0.520678	T	0.28699	0.0711	L	0.36672	1.1	0.09310	N	1	B;P	0.37276	0.001;0.589	B;B	0.30316	0.002;0.114	T	0.11690	-1.0577	10	0.22109	T	0.4	-22.9373	3.9903	0.09533	0.5025:0.1932:0.2278:0.0765	.	125;263	C9JBJ8;Q8NEG2	.;CG057_HUMAN	I	292;125;308;263;263	ENSP00000394648:L292I;ENSP00000410944:L308I;ENSP00000335500:L263I;ENSP00000442474:L263I	ENSP00000335500:L263I	L	+	1	0	C7orf57	48059003	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.433000	0.02428	-0.717000	0.04955	-0.397000	0.06425	CTC		0.572	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159	
POM121	9883	broad.mit.edu	37	7	72413425	72413425	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:72413425G>A	ENST00000434423.2	+	11	2893	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	POM121_ENST00000446813.1_Missense_Mutation_p.G700R|POM121_ENST00000395270.1_Missense_Mutation_p.G700R|POM121_ENST00000358357.3_Missense_Mutation_p.G700R|POM121_ENST00000257622.4_Missense_Mutation_p.G700R			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	965	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATCATATCCGGGAGCCAACCC	0.647																																						uc003twk.2																			0					0						c.(2893-2895)GGA>AGA		nuclear pore membrane protein 121							9.0	13.0	12.0					7																	72413425		1941	3966	5907	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413425G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2893G>A	7.37:g.72413425G>A	ENSP00000405562:p.Gly965Arg					POM121_uc003twj.2_Missense_Mutation_p.G700R|POM121_uc010lam.1_Missense_Mutation_p.G700R	p.G965R	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	2893	+		Lung NSC(55;0.163)	965			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2893G>A		.	.	.	.	.	.	.	.	.	.	G	8.893	0.954572	0.18431	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09255	3.0;3.06;3.0;3.06;3.26	2.33	2.33	0.28932	.	0.000000	0.33144	N	0.005224	T	0.24624	0.0597	M	0.66506	2.035	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.01245	-1.1407	10	0.46703	T	0.11	.	6.7656	0.23564	0.1512:0.0:0.8488:0.0	.	700;965	A8MXF9;Q96HA1	.;P121A_HUMAN	R	700;700;700;700;965	ENSP00000393020:G700R;ENSP00000257622:G700R;ENSP00000378687:G700R;ENSP00000351124:G700R;ENSP00000405562:G965R	ENSP00000257622:G700R	G	+	1	0	POM121	72051361	0.167000	0.22975	0.416000	0.26546	0.077000	0.17291	2.029000	0.41098	1.309000	0.44985	0.173000	0.16961	GGA		0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
GNAT3	346562	broad.mit.edu	37	7	80088106	80088106	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:80088106C>T	ENST00000398291.3	-	8	1039	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	316					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ATTTCCTTATCTTCTTTTTTT	0.323																																						uc011kgu.1																			0				ovary(1)	1						c.(946-948)GAT>AAT		guanine nucleotide binding protein, alpha							73.0	73.0	73.0					7																	80088106		1825	4091	5916	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80088106C>T		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.946G>A	7.37:g.80088106C>T	ENSP00000381339:p.Asp316Asn					CD36_uc003uhc.2_Intron	p.D316N	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			8	946	-			316					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.946G>A	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835762	0.50951	.	.	ENSG00000214415	ENST00000398291	D	0.88509	-2.39	5.41	5.41	0.78517	.	0.392275	0.24965	U	0.034193	T	0.76758	0.4032	N	0.03029	-0.43	0.32450	N	0.545503	P	0.37731	0.607	B	0.39971	0.315	T	0.78645	-0.2123	9	.	.	.	.	14.3998	0.67034	0.1476:0.8523:0.0:0.0	.	316	A8MTJ3	GNAT3_HUMAN	N	316	ENSP00000381339:D316N	.	D	-	1	0	GNAT3	79926042	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.209000	0.42806	2.710000	0.92621	0.650000	0.86243	GAT		0.323	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	
DLX6	1750	broad.mit.edu	37	7	96637111	96637111	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:96637111C>G	ENST00000518156.2	+	2	1028	c.598C>G	c.(598-600)Ctg>Gtg	p.L200V	DLX6_ENST00000555308.1_Missense_Mutation_p.L72V|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.L172V|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	82					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAGAGCCGAACTGGCAGCTTC	0.532																																						uc003uom.2																			0				ovary(2)	2						c.(514-516)CTG>GTG		distal-less homeobox 6							41.0	40.0	40.0					7																	96637111		1903	4125	6028	SO:0001583	missense	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96637111C>G		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.598C>G	7.37:g.96637111C>G	ENSP00000428480:p.Leu200Val					DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	p.L172V	NM_005222	NP_005213	P56179	DLX6_HUMAN			3	514	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		82			Homeobox.		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	c.514C>G	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197300	0.79015	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.98649	-5.05;-5.05;-5.05	5.62	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99453	1.0941	10	0.56958	D	0.05	-15.0656	14.3705	0.66836	0.0:0.9289:0.0:0.0711	.	172	P56179-2	.	V	200;172;72	ENSP00000428480:L200V;ENSP00000007660:L172V;ENSP00000451635:L72V	ENSP00000007660:L172V	L	+	1	2	DLX6	96475047	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.767000	0.85331	1.368000	0.46115	0.561000	0.74099	CTG		0.532	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222	
SLC26A3	1811	broad.mit.edu	37	7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:107434196C>T	ENST00000340010.5	-	3	446	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V53I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	88					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383																																						uc003ver.2																			0				ovary(3)|skin(1)	4						c.(262-264)GTA>ATA		solute carrier family 26, member 3							49.0	45.0	47.0					7																	107434196		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107434196C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.262G>A	7.37:g.107434196C>T	ENSP00000345873:p.Val88Ile					SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	p.V88I	NM_000111	NP_000102	P40879	S26A3_HUMAN			3	473	-			88			Helical; (Potential).			Missense_Mutation	SNP	ENST00000340010.5	37	c.262G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581046	0.65992	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.90133	-2.62;-2.62;-2.62	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	N	0.20483	0.58	0.54753	D	0.999989	D;P	0.53462	0.96;0.857	B;B	0.42653	0.369;0.394	T	0.82165	-0.0592	10	0.09338	T	0.73	.	19.679	0.95950	0.0:1.0:0.0:0.0	.	53;88	G5E9U3;P40879	.;S26A3_HUMAN	I	53;88;88	ENSP00000415817:V53I;ENSP00000345873:V88I;ENSP00000395955:V88I	ENSP00000345873:V88I	V	-	1	0	SLC26A3	107221432	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.515000	0.53429	2.658000	0.90341	0.491000	0.48974	GTA		0.383	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
ATP6V0A4	50617	broad.mit.edu	37	7	138432176	138432176	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:138432176G>T	ENST00000310018.2	-	13	1596	c.1314C>A	c.(1312-1314)gaC>gaA	p.D438E	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.D438E|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.D438E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	438					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCACCTCATTGTCTGTCTTCT	0.428																																						uc003vuf.2																			0				pancreas(1)	1						c.(1312-1314)GAC>GAA		ATPase, H+ transporting, lysosomal V0 subunit							103.0	90.0	95.0					7																	138432176		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138432176G>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1314C>A	7.37:g.138432176G>T	ENSP00000308122:p.Asp438Glu					ATP6V0A4_uc003vug.2_Missense_Mutation_p.D438E|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.D438E	p.D438E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			12	1552	-			438			Lumenal (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1314C>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	4.114	0.019366	0.08006	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.84298	-1.83;-1.83;-1.83	5.19	4.3	0.51218	.	0.904790	0.09684	N	0.769307	T	0.76557	0.4004	L	0.34521	1.04	0.33225	D	0.555145	B	0.27971	0.196	B	0.30943	0.122	T	0.69390	-0.5158	10	0.08179	T	0.78	-6.0151	9.771	0.40589	0.2149:0.0:0.7851:0.0	.	438	Q9HBG4	VPP4_HUMAN	E	438	ENSP00000308122:D438E;ENSP00000376774:D438E;ENSP00000253856:D438E	ENSP00000308122:D438E	D	-	3	2	ATP6V0A4	138082716	0.850000	0.29656	0.705000	0.30386	0.595000	0.36748	1.114000	0.31196	2.426000	0.82243	0.561000	0.74099	GAC		0.428	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
OR2A12	346525	broad.mit.edu	37	7	143792752	143792752	+	Silent	SNP	C	C	T	rs565722500		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143792752C>T	ENST00000408949.2	+	1	612	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCCGTATTCAAATTGGCCT	0.493													.|||	1	0.000199681	0.0	0.0014	5008	,	,		21547	0.0		0.0	False		,,,				2504	0.0					uc011kty.1																			0				ovary(2)|central_nervous_system(1)	3						c.(550-552)TTC>TTT		olfactory receptor, family 2, subfamily A,							168.0	161.0	163.0					7																	143792752		1971	4147	6118	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792752C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.552C>T	7.37:g.143792752C>T							p.F184F	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	552	+	Melanoma(164;0.0783)		184			Extracellular (Potential).		Q6IF43	Silent	SNP	ENST00000408949.2	37	c.552C>T	CCDS43670.1																																																																																				0.493	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1		
OR2A7	401427	broad.mit.edu	37	7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T	rs531461622		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143956670C>T	ENST00000493325.1	-	1	145	c.52G>A	c.(52-54)Gtt>Att	p.V18I	OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498													c|||	1	0.000199681	0.0008	0.0	5008	,	,		31715	0.0		0.0	False		,,,				2504	0.0					uc011kuc.1																			0				ovary(1)	1						c.(52-54)GTT>ATT		olfactory receptor, family 2, subfamily A,							100.0	128.0	118.0					7																	143956670		2201	4297	6498	SO:0001583	missense	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956670C>T		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.52G>A	7.37:g.143956670C>T	ENSP00000420502:p.Val18Ile					OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	p.V18I	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN			1	52	-	Melanoma(164;0.14)		18			Extracellular (Potential).		B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	c.52G>A	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	c	0.608	-0.826223	0.02734	.	.	ENSG00000243896	ENST00000493325	T	0.00433	7.43	3.21	-3.87	0.04218	.	.	.	.	.	T	0.00178	0.0005	N	0.04245	-0.25	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.20273	-1.0280	9	0.39692	T	0.17	.	4.6601	0.12637	0.0891:0.4935:0.1752:0.2422	.	18	Q96R45	OR2A7_HUMAN	I	18	ENSP00000420502:V18I	ENSP00000420502:V18I	V	-	1	0	OR2A7	143587603	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.569000	0.00915	-0.991000	0.03476	-1.490000	0.00973	GTT		0.498	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1		
CYP7A1	1581	broad.mit.edu	37	8	59409723	59409723	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:59409723C>T	ENST00000301645.3	-	3	485	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	116					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTCCATCCATCGGGTCAATGC	0.418									Neonatal Giant Cell Hepatitis																													uc003xtm.3																			0				ovary(1)	1						c.(346-348)CCG>CCA		cytochrome P450, family 7, subfamily A,							92.0	91.0	91.0					8																	59409723		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409723C>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.348G>A	8.37:g.59409723C>T							p.P116P	NM_000780	NP_000771	P22680	CP7A1_HUMAN			3	411	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	116					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.348G>A	CCDS6171.1																																																																																				0.418	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780	
TRPA1	8989	broad.mit.edu	37	8	72948586	72948586	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:72948586T>A	ENST00000262209.4	-	21	2699	c.2492A>T	c.(2491-2493)cAg>cTg	p.Q831L	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	831					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACATTGCCACTGCAGATGAGC	0.353																																						uc003xza.2																			0				ovary(4)|lung(1)|kidney(1)	6						c.(2491-2493)CAG>CTG		ankyrin-like protein 1	Menthol(DB00825)						66.0	66.0	66.0					8																	72948586		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72948586T>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2492A>T	8.37:g.72948586T>A	ENSP00000262209:p.Gln831Leu					uc011lff.1_Intron|uc003xyy.2_Intron	p.Q831L	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		21	2667	-			831			Helical; Name=4; (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2492A>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098474	0.76870	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.38401	1.14;1.14	4.94	4.94	0.65067	Ion transport (1);	0.109096	0.64402	D	0.000005	T	0.62768	0.2455	M	0.82630	2.6	0.58432	D	0.999995	D	0.76494	0.999	D	0.72075	0.976	T	0.69745	-0.5062	10	0.87932	D	0	-15.1817	14.8799	0.70525	0.0:0.0:0.0:1.0	.	831	O75762	TRPA1_HUMAN	L	683;831	ENSP00000428151:Q683L;ENSP00000262209:Q831L	ENSP00000262209:Q831L	Q	-	2	0	TRPA1	73111140	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	5.863000	0.69568	1.960000	0.56953	0.477000	0.44152	CAG		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TMEM70	54968	broad.mit.edu	37	8	74888704	74888704	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:74888704delT	ENST00000312184.5	+	1	261	c.188delT	c.(187-189)ctcfs	p.L63fs	TMEM70_ENST00000517439.1_Frame_Shift_Del_p.L63fs|TMEM70_ENST00000523794.1_3'UTR	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	63					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			GCGCGCCTTCTCCGGCGTCCG	0.766																																						uc003yab.2																			0				ovary(1)	1						c.(187-189)CTCfs		transmembrane protein 70 isoform a							3.0	4.0	4.0					8																	74888704		1807	3733	5540	SO:0001589	frameshift_variant	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74888704delT	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.188delT	8.37:g.74888704delT	ENSP00000312599:p.Leu63fs					TMEM70_uc003yac.2_Frame_Shift_Del_p.L63fs	p.L63fs	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		1	275	+	Breast(64;0.0311)		63					E9PDY9|Q9NWY5	Frame_Shift_Del	DEL	ENST00000312184.5	37	c.188delT	CCDS6215.1																																																																																				0.766	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866	
ZNF623	9831	broad.mit.edu	37	8	144733275	144733275	+	Silent	SNP	G	G	A	rs530640705		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:144733275G>A	ENST00000501748.2	+	1	1322	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	ZNF623_ENST00000526926.1_Silent_p.A371A|ZNF623_ENST00000458270.2_Silent_p.A371A	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGGGAAAGCGTTTCTCCAGA	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20035	0.0		0.0	False		,,,				2504	0.0					uc003yzd.2																			0					0						c.(1231-1233)GCG>GCA		zinc finger protein 623 isoform 1							79.0	74.0	76.0					8																	144733275		2203	4300	6503	SO:0001819	synonymous_variant	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733275G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1233G>A	8.37:g.144733275G>A						ZNF623_uc011lkp.1_Silent_p.A371A|ZNF623_uc003yzc.2_Silent_p.A371A	p.A411A	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1322	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		411			C2H2-type 11.		A4FU80|B4DGP3|E7ENV5	Silent	SNP	ENST00000501748.2	37	c.1233G>A	CCDS34957.1																																																																																				0.478	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	
KIAA0020	9933	broad.mit.edu	37	9	2829880	2829880	+	Missense_Mutation	SNP	G	G	A	rs199616112		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:2829880G>A	ENST00000397885.2	-	8	952	c.746C>T	c.(745-747)gCg>gTg	p.A249V	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	249	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGATGCTTCCGCATGCCGCAG	0.443																																						uc003zhp.1																			0				ovary(1)	1						c.(745-747)GCG>GTG		KIAA0020 protein							227.0	199.0	208.0					9																	2829880		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829880G>A	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.746C>T	9.37:g.2829880G>A	ENSP00000380982:p.Ala249Val					KIAA0020_uc010mhc.1_Missense_Mutation_p.A248V|KIAA0020_uc003zhq.1_Missense_Mutation_p.A248V	p.A249V	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	8	842	-			249			Pumilio 3.|PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.746C>T	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158458	0.78114	.	.	ENSG00000080608	ENST00000397885	T	0.63417	-0.04	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.261472	0.44688	D	0.000437	T	0.63010	0.2475	L	0.57536	1.79	0.35558	D	0.804407	B;B	0.22746	0.022;0.074	B;B	0.23150	0.018;0.044	T	0.62115	-0.6922	10	0.31617	T	0.26	-19.2161	20.8794	0.99867	0.0:0.0:1.0:0.0	.	109;249	B2RDG4;Q15397	.;K0020_HUMAN	V	249	ENSP00000380982:A249V	ENSP00000380982:A249V	A	-	2	0	KIAA0020	2819880	1.000000	0.71417	0.013000	0.15412	0.767000	0.43475	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GCG		0.443	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	
OR1L4	254973	broad.mit.edu	37	9	125486747	125486747	+	Missense_Mutation	SNP	G	G	A	rs370090548		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:125486747G>A	ENST00000259466.1	+	1	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCCCTGTTCCGCGTGCTACTT	0.478																																						uc004bmu.1																			0					0						c.(478-480)CGC>CAC		olfactory receptor, family 1, subfamily L,		G	HIS/ARG	0,4406		0,0,2203	184.0	158.0	166.0		479	3.1	0.0	9		166	1,8593		0,1,4296	no	missense	OR1L4	NM_001005235.1	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	160/312	125486747	1,12999	2203	4297	6500	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486747G>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.479G>A	9.37:g.125486747G>A	ENSP00000259466:p.Arg160His						p.R160H	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	479	+			160			Extracellular (Potential).		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.479G>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.305906	0.00240	0.0	1.16E-4	ENSG00000136939	ENST00000259466	T	0.00017	9.1	4.01	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.352654	0.24645	N	0.036780	T	0.00039	0.0001	N	0.00055	-2.37	0.09310	N	1	B	0.18166	0.026	B	0.17098	0.017	T	0.43523	-0.9386	10	0.02654	T	1	-0.0046	3.5503	0.07844	0.2092:0.0:0.591:0.1998	.	160	Q8NGR5	OR1L4_HUMAN	H	160	ENSP00000259466:R160H	ENSP00000259466:R160H	R	+	2	0	OR1L4	124526568	0.000000	0.05858	0.015000	0.15790	0.384000	0.30261	0.187000	0.16998	0.914000	0.36822	0.298000	0.19748	CGC		0.478	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1		
WNK3	65267	broad.mit.edu	37	X	54275317	54275317	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:54275317C>A	ENST00000375159.2	-	16	3463	c.3464G>T	c.(3463-3465)tGt>tTt	p.C1155F	WNK3_ENST00000354646.2_Missense_Mutation_p.C1155F|WNK3_ENST00000375169.3_Missense_Mutation_p.C1155F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1155					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						TGTCACTGGACAGGAGAGGGT	0.458																																						uc004dtd.1																			0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(3463-3465)TGT>TTT		WNK lysine deficient protein kinase 3 isoform 2							111.0	106.0	108.0					X																	54275317		2203	4300	6503	SO:0001583	missense	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:54275317C>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.3464G>T	X.37:g.54275317C>A	ENSP00000364301:p.Cys1155Phe					WNK3_uc004dtc.1_Missense_Mutation_p.C1155F	p.C1155F	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			17	3903	-			1155					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3464G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641164	0.29157	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70164	-0.44;-0.46;-0.46	5.19	3.36	0.38483	.	0.282412	0.31188	N	0.008082	T	0.42675	0.1213	L	0.27053	0.805	0.33138	D	0.544014	P;B	0.38440	0.631;0.112	B;B	0.29663	0.105;0.033	T	0.49862	-0.8894	10	0.12103	T	0.63	-0.8411	8.0361	0.30493	0.159:0.7531:0.0:0.0879	.	1155;1155	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	1155	ENSP00000364312:C1155F;ENSP00000346667:C1155F;ENSP00000364301:C1155F	ENSP00000346667:C1155F	C	-	2	0	WNK3	54292042	0.959000	0.32827	0.993000	0.49108	0.997000	0.91878	1.333000	0.33816	0.367000	0.24454	0.544000	0.68410	TGT		0.458	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
SPIN3	169981	broad.mit.edu	37	X	57021377	57021377	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:57021377T>G	ENST00000374919.3	-	2	326	c.4A>C	c.(4-6)Aag>Cag	p.K2Q		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	2					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						AACGGGGTCTTCATGCCTGCG	0.537																																						uc010nkj.2																			0				ovary(1)|central_nervous_system(1)	2						c.(4-6)AAG>CAG		spindlin family, member 3							28.0	27.0	27.0					X																	57021377		2059	4171	6230	SO:0001583	missense	169981				gamete generation			g.chrX:57021377T>G	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.4A>C	X.37:g.57021377T>G	ENSP00000364054:p.Lys2Gln					SPIN3_uc004duu.3_RNA|SPIN3_uc004duw.3_RNA|SPIN3_uc004duv.3_RNA|SPIN3_uc004dux.1_Missense_Mutation_p.K2Q	p.K2Q	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN			2	290	-			2					B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	c.4A>C	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174727	0.57692	.	.	ENSG00000204271	ENST00000374919;ENST00000374915	T	0.48836	0.8	2.45	2.45	0.29901	.	.	.	.	.	T	0.63367	0.2505	M	0.70275	2.135	0.29645	N	0.844448	D	0.76494	0.999	D	0.78314	0.991	T	0.57608	-0.7782	9	0.87932	D	0	-4.7336	8.0376	0.30502	0.0:0.0:0.0:1.0	.	2	Q5JUX0	SPIN3_HUMAN	Q	2	ENSP00000364054:K2Q	ENSP00000364050:K2Q	K	-	1	0	SPIN3	57038102	1.000000	0.71417	0.929000	0.37066	0.168000	0.22595	1.345000	0.33953	1.229000	0.43630	0.486000	0.48141	AAG		0.537	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024	
TAF1	6872	broad.mit.edu	37	X	70680548	70680548	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:70680548T>G	ENST00000373790.4	+	37	5342	c.5291T>G	c.(5290-5292)aTg>aGg	p.M1764R	TAF1_ENST00000276072.3_Missense_Mutation_p.M1785R|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.M1798R|TAF1_ENST00000423759.1_Missense_Mutation_p.M1787R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1764	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAACCCCGCATGCTTCAGGAG	0.483																																						uc004dzu.3																			0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(5290-5292)ATG>AGG		TBP-associated factor 1 isoform 2							128.0	93.0	105.0					X																	70680548		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70680548T>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5291T>G	X.37:g.70680548T>G	ENSP00000362895:p.Met1764Arg					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.M1785R|TAF1_uc004dzv.3_Missense_Mutation_p.M972R|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.M189R|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA	p.M1764R	NM_138923	NP_620278	P21675	TAF1_HUMAN			37	5342	+	Renal(35;0.156)	all_lung(315;0.000321)	1764			Asp/Glu-rich (acidic tail).|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.5291T>G	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.55|12.55	1.970822|1.970822	0.34754|0.34754	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000437147|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072	.|T;T;T;T	.|0.08370	.|3.1;3.21;3.15;3.1	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.312932	.|0.35615	.|N	.|0.003082	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.14661|0.14661	0.345|0.345	0.25110|0.25110	N|N	0.990721|0.990721	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.33929|0.33929	-0.9849|-0.9849	5|10	.|0.25106	.|T	.|0.35	.|.	13.3501|13.3501	0.60597|0.60597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|454;1798;1764;1785	.|A5CVC9;P21675-4;P21675;P21675-2	.|.;.;TAF1_HUMAN;.	G|R	453|1764;1798;1787;506;1785	.|ENSP00000362895:M1764R;ENSP00000389000:M1798R;ENSP00000406549:M1787R;ENSP00000276072:M1785R	.|ENSP00000276072:M1785R	C|M	+|+	1|2	0|0	TAF1|TAF1	70597273|70597273	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.996000|0.996000	0.88848|0.88848	5.666000|5.666000	0.68059|0.68059	1.723000|1.723000	0.51488|0.51488	0.430000|0.430000	0.28490|0.28490	TGC|ATG		0.483	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
