#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CPE	1363	broad.mit.edu	37	4	166405633	166405633	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr4:166405633G>A	ENST00000402744.4	+	5	1130	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	284					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.A284T(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTGGCCCGGGCATACTCTTC	0.498																																						ENST00000402744.4																			1	Substitution - Missense(1)	p.A284T(1)	prostate(1)	endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(850-852)Gca>Aca		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						270.0	262.0	265.0					4																	166405633		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166405633G>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.850G>A	4.37:g.166405633G>A	ENSP00000386104:p.Ala284Thr						p.A284T	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1130	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	284					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.850G>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086236	0.07097	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.11385	2.78	5.67	4.82	0.62117	Peptidase M14, carboxypeptidase A (2);	0.397035	0.26963	N	0.021616	T	0.04137	0.0115	N	0.04387	-0.21	0.45962	D	0.998781	B	0.24092	0.097	B	0.20767	0.031	T	0.42632	-0.9440	10	0.16420	T	0.52	-6.9485	5.6935	0.17843	0.1036:0.0:0.557:0.3394	.	284	P16870	CBPE_HUMAN	T	284;248	ENSP00000386104:A284T	ENSP00000261510:A248T	A	+	1	0	CPE	166625083	0.998000	0.40836	0.783000	0.31826	0.257000	0.26127	1.637000	0.37155	1.487000	0.48415	0.650000	0.86243	GCA		0.498	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		5	257	0	0	0	1	0	5	257				
NID2	22795	broad.mit.edu	37	14	52520474	52520474	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:52520474C>T	ENST00000216286.5	-	5	1251	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	NID2_ENST00000541773.1_Missense_Mutation_p.G365R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	418					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGATGCTTCCGTTTTCGGGG	0.562																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1252-1254)Gga>Aga		nidogen 2 (osteonidogen)							95.0	88.0	90.0					14																	52520474		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520474C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1252G>A	14.37:g.52520474C>T	ENSP00000216286:p.Gly418Arg					NID2_ENST00000541773.1_Missense_Mutation_p.G365R	p.G418R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			5	1251	-	Breast(41;0.0639)|all_epithelial(31;0.123)		418					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1252G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	1.161	-0.643693	0.03531	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.82803	-1.65;-1.53	3.75	0.0609	0.14338	.	1.184840	0.06042	N	0.655113	T	0.59238	0.2179	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46034	-0.9220	10	0.14656	T	0.56	.	6.2929	0.21069	0.0:0.5581:0.0:0.4419	.	365;420;418	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	R	418;365;420	ENSP00000216286:G418R;ENSP00000443730:G365R	ENSP00000216286:G418R	G	-	1	0	NID2	51590224	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.211000	0.17474	-0.156000	0.11079	-0.339000	0.08088	GGA		0.562	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			3	64	0	0	0	1	0	3	64				
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																						ENST00000411500.1																			0																																																			0							g.chr6:32522722C>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A								NR_001298.1						0	484	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	6	1	0	0.0215528	1	0.0215528	4	6				
IKBKE	9641	broad.mit.edu	37	1	206653815	206653815	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:206653815C>T	ENST00000367120.3	+	13	1739	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	IKBKE_ENST00000537984.1_Missense_Mutation_p.R371W	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	456	Interaction with DDX3X.|Leucine-zipper.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CACATGCAGACGGACTCTGGA	0.627																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(1366-1368)Cgg>Tgg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							103.0	75.0	85.0					1																	206653815		2203	4300	6503	SO:0001583	missense	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206653815C>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1366C>T	1.37:g.206653815C>T	ENSP00000356087:p.Arg456Trp					IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.R371W	p.R456W	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			13	1739	+	Breast(84;0.137)		456			Leucine-zipper.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1366C>T	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	c	17.20	3.327825	0.60743	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.64260	-0.09;0.06	4.73	4.73	0.59995	.	0.670240	0.15459	N	0.261206	T	0.65026	0.2652	L	0.50333	1.59	0.19775	N	0.99995	D;D	0.69078	0.996;0.997	P;P	0.50192	0.549;0.634	T	0.60722	-0.7207	10	0.72032	D	0.01	2.5901	13.6169	0.62115	0.0:1.0:0.0:0.0	.	371;456	Q3B754;Q14164	.;IKKE_HUMAN	W	456;371	ENSP00000356087:R456W;ENSP00000444529:R371W	ENSP00000356087:R456W	R	+	1	2	IKBKE	204720438	0.424000	0.25490	0.908000	0.35775	0.265000	0.26407	1.675000	0.37555	2.342000	0.79632	0.550000	0.68814	CGG		0.627	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			9	21	0	0	0	1	0	9	21				
TAL2	6887	broad.mit.edu	37	9	108425068	108425068	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr9:108425068G>A	ENST00000334077.3	+	1	331	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	97					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										AGAACTACCAGGTTCCTTCAC	0.572			T	TRB@	T-ALL																																	ENST00000334077.3				Dom	yes		9	9q31	6887	T	T-cell acute lymphocytic leukemia 2			L	TRB@		T-ALL		0											c.(289-291)caG>caA		T-cell acute lymphocytic leukemia 2							41.0	37.0	38.0					9																	108425068		2203	4300	6503	SO:0001819	synonymous_variant	6887				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:108425068G>A		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.291G>A	9.37:g.108425068G>A							p.Q97Q	NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN			1	331	+			97					A0AVI7	Silent	SNP	ENST00000334077.3	37	c.291G>A	CCDS6767.1																																																																																				0.572	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		12	29	0	0	0	1	0	12	29				
DKK1	22943	broad.mit.edu	37	10	54076171	54076171	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr10:54076171T>C	ENST00000373970.3	+	3	662	c.523T>C	c.(523-525)Tct>Cct	p.S175P	DKK1_ENST00000467359.1_3'UTR|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	175					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AACCACCTTGTCTTCAAAAAT	0.368																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(523-525)Tct>Cct		dickkopf WNT signaling pathway inhibitor 1							92.0	86.0	88.0					10																	54076171		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076171T>C		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.523T>C	10.37:g.54076171T>C	ENSP00000363081:p.Ser175Pro					DKK1_ENST00000467359.1_3'UTR	p.S175P	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			3	662	+			175					B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.523T>C	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	T	4.784	0.145764	0.09134	.	.	ENSG00000107984	ENST00000373970	T	0.46063	0.88	5.82	2.14	0.27477	.	0.534090	0.20837	N	0.084771	T	0.17874	0.0429	N	0.04880	-0.145	0.19300	N	0.99998	B	0.15930	0.015	B	0.15052	0.012	T	0.18713	-1.0328	10	0.22706	T	0.39	0.0013	5.4548	0.16584	0.1327:0.1453:0.0:0.7219	.	175	O94907	DKK1_HUMAN	P	175	ENSP00000363081:S175P	ENSP00000363081:S175P	S	+	1	0	DKK1	53746177	0.003000	0.15002	0.160000	0.22671	0.417000	0.31264	0.065000	0.14466	0.111000	0.17947	0.459000	0.35465	TCT		0.368	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			4	74	0	0	0	1	0	4	74				
BMP4	652	broad.mit.edu	37	14	54417158	54417158	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:54417158G>A	ENST00000245451.4	-	4	1212	c.819C>T	c.(817-819)gtC>gtT	p.V273V	MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000417573.1_Silent_p.V273V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	273					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCAAAGGTGACCAGGAGGG	0.617																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(817-819)gtC>gtT		bone morphogenetic protein 4							40.0	40.0	40.0					14																	54417158		2203	4300	6503	SO:0001819	synonymous_variant	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417158G>A	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.819C>T	14.37:g.54417158G>A						BMP4_ENST00000558984.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000417573.1_Silent_p.V273V	p.V273V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	1212	-			273					Q9UM80	Silent	SNP	ENST00000245451.4	37	c.819C>T	CCDS9715.1																																																																																				0.617	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		14	35	0	0	0	1	0	14	35				
GALNT10	55568	broad.mit.edu	37	5	153765889	153765889	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:153765889G>T	ENST00000297107.6	+	7	1092	c.955G>T	c.(955-957)Ggt>Tgt	p.G319C	GALNT10_ENST00000425427.2_Missense_Mutation_p.G319C|GALNT10_ENST00000377661.2_Missense_Mutation_p.G257C|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	319	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G319C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CGTGATGGCCGGTGGACTGTT	0.567																																						ENST00000297107.6																			1	Substitution - Missense(1)	p.G319C(1)	lung(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(955-957)Ggt>Tgt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							187.0	174.0	178.0					5																	153765889		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153765889G>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.955G>T	5.37:g.153765889G>T	ENSP00000297107:p.Gly319Cys					GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.G319C|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.G257C	p.G319C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		7	1092	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	319			Catalytic subdomain B.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.955G>T	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.041156	0.93685	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.67865	-0.29;-0.29;-0.29	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.90885	0.7136	H	0.99619	4.66	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	0.94968	0.8114	10	0.87932	D	0	.	19.2807	0.94051	0.0:0.0:1.0:0.0	.	257;319;319	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	C	319;319;257	ENSP00000415210:G319C;ENSP00000297107:G319C;ENSP00000366889:G257C	ENSP00000297107:G319C	G	+	1	0	GALNT10	153746082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.640000	0.98453	2.563000	0.86464	0.655000	0.94253	GGT		0.567	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		4	163	1	0	2.56e-06	1	2.71284e-06	4	163				
CACNB1	782	broad.mit.edu	37	17	37341091	37341091	+	Silent	SNP	C	C	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr17:37341091C>G	ENST00000394303.3	-	8	882	c.675G>C	c.(673-675)gtG>gtC	p.V225V	CACNB1_ENST00000394310.3_Silent_p.V225V|CACNB1_ENST00000344140.5_Silent_p.V270V|CACNB1_ENST00000582877.1_5'Flank	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	225					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGAAGGCACCACGTCATAGG	0.602																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(673-675)gtG>gtC		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						49.0	43.0	45.0					17																	37341091		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37341091C>G		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.675G>C	17.37:g.37341091C>G						CACNB1_ENST00000394310.3_Silent_p.V225V|CACNB1_ENST00000344140.5_Silent_p.V270V	p.V225V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			8	882	-			225					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.675G>C	CCDS42311.1																																																																																				0.602	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			5	54	0	0	0	1	0	5	54				
RPF1	80135	broad.mit.edu	37	1	84961652	84961652	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:84961652T>G	ENST00000370654.5	+	7	802	c.787T>G	c.(787-789)Ttt>Gtt	p.F263V	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	263	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TGGACGTATGTTTGCATCTCT	0.398																																						ENST00000370654.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(787-789)Ttt>Gtt		ribosome production factor 1 homolog (S. cerevisiae)							114.0	104.0	108.0					1																	84961652		2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84961652T>G	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.787T>G	1.37:g.84961652T>G	ENSP00000359688:p.Phe263Val						p.F263V	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN			7	802	+			263			Brix.		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.787T>G	CCDS695.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330343	0.81690	.	.	ENSG00000117133	ENST00000370654	T	0.30182	1.54	5.96	3.66	0.41972	Brix domain (3);Anticodon-binding (1);	0.094127	0.85682	N	0.000000	T	0.35856	0.0946	M	0.85041	2.73	0.58432	D	0.999999	P	0.48640	0.913	P	0.52957	0.714	T	0.35748	-0.9776	10	0.66056	D	0.02	-9.8529	8.5796	0.33621	0.0:0.0666:0.1315:0.8019	.	263	Q9H9Y2	RPF1_HUMAN	V	263	ENSP00000359688:F263V	ENSP00000359688:F263V	F	+	1	0	RPF1	84734240	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.240000	0.51368	1.065000	0.40693	-0.313000	0.08912	TTT		0.398	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		17	35	0	0	0	1	0	17	35				
ZMYM3	9203	broad.mit.edu	37	X	70462905	70462905	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:70462905G>C	ENST00000353904.2	-	22	3649	c.3462C>G	c.(3460-3462)aaC>aaG	p.N1154K	ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373998.1_Missense_Mutation_p.N1142K	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1154					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCGTGAAAATGTTCACCATCC	0.458																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3424-3426)aaC>aaG		zinc finger, MYM-type 3							143.0	117.0	126.0					X																	70462905		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70462905G>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3462C>G	X.37:g.70462905G>C	ENSP00000343909:p.Asn1154Lys					ZMYM3_ENST00000353904.2_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K	p.N1142K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			22	4123	-	Renal(35;0.156)		1154					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3426C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	17.52	3.411219	0.62399	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.54279	1.18;0.58;1.18;1.01;1.19	4.56	2.8	0.32819	.	0.148283	0.45867	D	0.000334	T	0.61035	0.2315	L	0.49126	1.545	0.41592	D	0.988809	D;D	0.69078	0.997;0.995	D;D	0.70716	0.97;0.933	T	0.59810	-0.7384	10	0.72032	D	0.01	-16.1639	7.1681	0.25702	0.3957:0.0:0.6043:0.0	.	1142;1154	Q14202-2;Q14202	.;ZMYM3_HUMAN	K	1154;1142;1154;1149;1156	ENSP00000322845:N1154K;ENSP00000363110:N1142K;ENSP00000343909:N1154K;ENSP00000363096:N1149K;ENSP00000363100:N1156K	ENSP00000322845:N1154K	N	-	3	2	ZMYM3	70379630	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.053000	0.41326	0.387000	0.25024	-0.210000	0.12710	AAC		0.458	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		15	14	0	0	0	1	0	15	14				
PPP2R5B	5526	broad.mit.edu	37	11	64694285	64694285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr11:64694285G>T	ENST00000164133.2	+	3	923	c.301G>T	c.(301-303)Gag>Tag	p.E101*		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	101					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAAGGGGAAGGAGGTGAAGCG	0.632																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(301-303)Gag>Tag		protein phosphatase 2, regulatory subunit B', beta							130.0	124.0	126.0					11																	64694285		2201	4297	6498	SO:0001587	stop_gained	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64694285G>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.301G>T	11.37:g.64694285G>T	ENSP00000164133:p.Glu101*						p.E101*	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			3	923	+			101					Q13853	Nonsense_Mutation	SNP	ENST00000164133.2	37	c.301G>T	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	42	9.404094	0.99161	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.569	14.2826	0.66224	0.0:0.0:1.0:0.0	.	.	.	.	X	101;101;128;15;101	.	ENSP00000164133:E101X	E	+	1	0	PPP2R5B	64450861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.024000	0.93689	2.485000	0.83878	0.655000	0.94253	GAG		0.632	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		6	111	1	0	0.00116845	1	0.00120231	6	111				
IGLON5	402665	broad.mit.edu	37	19	51831965	51831965	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:51831965G>A	ENST00000270642.8	+	8	963	c.963G>A	c.(961-963)ggG>ggA	p.G321G		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	321						extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						GGCCCCCAGGGCTCCTGGCCC	0.672																																						ENST00000270642.8																			0				large_intestine(5)|lung(6)|prostate(1)	12						c.(961-963)ggG>ggA		IgLON family member 5							14.0	17.0	16.0					19																	51831965		1839	4082	5921	SO:0001819	synonymous_variant	402665					extracellular region		g.chr19:51831965G>A		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.963G>A	19.37:g.51831965G>A							p.G321G	NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN			8	963	+			321						Silent	SNP	ENST00000270642.8	37	c.963G>A	CCDS46158.1																																																																																				0.672	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		4	8	0	0	0	1	0	4	8				
BHMT2	23743	broad.mit.edu	37	5	78376593	78376593	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:78376593C>T	ENST00000255192.3	+	4	408	c.342C>T	c.(340-342)tgC>tgT	p.C114C	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	114	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGGGGATCTGCCAGACATCAA	0.448																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(340-342)tgC>tgT		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						101.0	103.0	102.0					5																	78376593		2203	4300	6503	SO:0001819	synonymous_variant	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78376593C>T		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.342C>T	5.37:g.78376593C>T						DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	p.C114C	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	4	408	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	114			Hcy-binding.		B7Z516|Q9NXX7	Silent	SNP	ENST00000255192.3	37	c.342C>T	CCDS4045.1																																																																																				0.448	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		6	83	0	0	0	1	0	6	83				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			4	59	0	0	0	1	0	4	59				
ZFP28	140612	broad.mit.edu	37	19	57065632	57065632	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:57065632G>A	ENST00000301318.3	+	8	1549	c.1478G>A	c.(1477-1479)cGt>cAt	p.R493H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	493					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(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TCCCTTATCCGTCACTGGAGA	0.473																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1477-1479)cGt>cAt		ZFP28 zinc finger protein							115.0	91.0	99.0					19																	57065632		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065632G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1478G>A	19.37:g.57065632G>A	ENSP00000301318:p.Arg493His					AC007228.11_ENST00000596587.1_RNA	p.R493H	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1549	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	493					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1478G>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349387	0.41599	.	.	ENSG00000196867	ENST00000301318	T	0.26810	1.71	4.4	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000306	T	0.41880	0.1178	L	0.53617	1.68	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.07888	-1.0749	10	0.41790	T	0.15	.	12.6012	0.56499	0.0:0.2671:0.7329:0.0	.	493	Q8NHY6	ZFP28_HUMAN	H	493	ENSP00000301318:R493H	ENSP00000301318:R493H	R	+	2	0	ZFP28	61757444	0.000000	0.05858	0.763000	0.31416	0.979000	0.70002	-0.169000	0.09911	2.438000	0.82558	0.650000	0.86243	CGT		0.473	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		3	67	0	0	0	1	0	3	67				
B3GALT4	8705	broad.mit.edu	37	6	33245991	33245991	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr6:33245991G>A	ENST00000451237.1	+	1	1075	c.795G>A	c.(793-795)acG>acA	p.T265T		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	265					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCTCAGGCACGGGGTATGTGC	0.642																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(793-795)acG>acA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							43.0	45.0	45.0					6																	33245991		2203	4300	6503	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245991G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.795G>A	6.37:g.33245991G>A							p.T265T	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1075	+			265						Silent	SNP	ENST00000451237.1	37	c.795G>A	CCDS34425.1																																																																																				0.642	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			18	40	0	0	0	1	0	18	40				
TTN	7273	broad.mit.edu	37	2	179418324	179418324	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr2:179418324C>T	ENST00000591111.1	-	284	84709	c.84485G>A	c.(84484-84486)gGa>gAa	p.G28162E	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G29803E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28162	Fibronectin type-III 105. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTAATTGACTCCAGGTTTCAG	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89407-89409)gGa>gAa		titin							120.0	117.0	118.0					2																	179418324		1905	4130	6035	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418324C>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.84485G>A	2.37:g.179418324C>T	ENSP00000465570:p.Gly28162Glu					TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN_ENST00000591111.1_Missense_Mutation_p.G28162E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|TTN-AS1_ENST00000586707.1_RNA	p.G29803E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		334	89632	-			28162			Fibronectin type-III 117.		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.89408G>A		.	.	.	.	.	.	.	.	.	.	C	14.06	2.423324	0.43020	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.6	3.78	0.43462	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74891	0.3776	M	0.71581	2.175	0.45791	D	0.998673	D;D;D;D	0.63880	0.993;0.993;0.993;0.988	P;P;P;P	0.58721	0.844;0.844;0.844;0.844	T	0.79082	-0.1949	9	0.87932	D	0	.	16.5642	0.84574	0.0:0.754:0.246:0.0	.	20738;20863;20930;28162	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	27235;20738;20930;20863;20735	ENSP00000343764:G27235E;ENSP00000434586:G20738E;ENSP00000340554:G20930E;ENSP00000352154:G20863E	ENSP00000340554:G20930E	G	-	2	0	TTN	179126570	0.996000	0.38824	1.000000	0.80357	0.870000	0.49936	2.684000	0.46951	0.818000	0.34468	-0.948000	0.02665	GGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	58	0	0	0	1	0	4	58				
PCBP4	57060	broad.mit.edu	37	3	51992299	51992299	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:51992299G>A	ENST00000461554.1	-	14	1321	c.990C>T	c.(988-990)ccC>ccT	p.P330P	PCBP4_ENST00000428823.2_Silent_p.P287P|PCBP4_ENST00000471622.1_Intron|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000395013.3_Silent_p.P170P|PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000484633.1_Silent_p.P287P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	330						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGGCGAGAAGGGGGCAGGCA	0.662																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(988-990)ccC>ccT		poly(rC) binding protein 4							30.0	37.0	34.0					3																	51992299		2203	4299	6502	SO:0001819	synonymous_variant	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51992299G>A	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.990C>T	3.37:g.51992299G>A						PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000484633.1_Silent_p.P287P|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000395013.3_Silent_p.P170P|PCBP4_ENST00000428823.2_Silent_p.P287P	p.P330P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	14	1321	-			330					Q96AH7	Silent	SNP	ENST00000461554.1	37	c.990C>T	CCDS2839.1																																																																																				0.662	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		6	34	0	0	0	1	0	6	34				
DYTN	391475	broad.mit.edu	37	2	207564545	207564545	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr2:207564545A>G	ENST00000452335.2	-	7	741	c.625T>C	c.(625-627)Tgg>Cgg	p.W209R	DYTN_ENST00000477734.1_5'UTR|Y_RNA_ENST00000384589.1_RNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	209						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTCGGGAGCCACAGGAGGATG	0.522																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(625-627)Tgg>Cgg		dystrotelin							70.0	77.0	75.0					2																	207564545		1967	4168	6135	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207564545A>G	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.625T>C	2.37:g.207564545A>G	ENSP00000396593:p.Trp209Arg					DYTN_ENST00000477734.1_5'UTR	p.W209R	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	7	741	-			209						Missense_Mutation	SNP	ENST00000452335.2	37	c.625T>C	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919757	0.73098	.	.	ENSG00000232125	ENST00000452335	D	0.87729	-2.29	5.89	4.73	0.59995	EF-hand domain, type 2 (1);	.	.	.	.	D	0.91663	0.7365	M	0.85859	2.78	0.39333	D	0.965446	D	0.57899	0.981	P	0.56514	0.8	D	0.93087	0.6496	9	0.87932	D	0	-6.4808	10.842	0.46722	0.9277:0.0:0.0723:0.0	.	209	A2CJ06	DYTN_HUMAN	R	209	ENSP00000396593:W209R	ENSP00000396593:W209R	W	-	1	0	DYTN	207272790	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.122000	0.64697	2.254000	0.74563	0.459000	0.35465	TGG		0.522	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			10	18	0	0	0	1	0	10	18				
ANKRD32	84250	broad.mit.edu	37	5	94027888	94027888	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:94027888C>T	ENST00000265140.5	+	20	3041	c.2622C>T	c.(2620-2622)gaC>gaT	p.D874D		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	874						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTCAAGTGGACGGGGTGACTC	0.483																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2620-2622)gaC>gaT		ankyrin repeat domain 32							142.0	128.0	133.0					5																	94027888		2203	4300	6503	SO:0001819	synonymous_variant	84250							g.chr5:94027888C>T	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2622C>T	5.37:g.94027888C>T							p.D874D	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	20	3041	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	874					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	c.2622C>T	CCDS4071.2																																																																																				0.483	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		28	62	0	0	0	1	0	28	62				
MAGEB6	158809	broad.mit.edu	37	X	26212572	26212572	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:26212572G>A	ENST00000379034.1	+	2	758	c.609G>A	c.(607-609)gcG>gcA	p.A203A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A203A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.A203A(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(607-609)gcG>gcA		melanoma antigen family B, 6							85.0	72.0	76.0					X																	26212572		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212572G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.609G>A	X.37:g.26212572G>A							p.A203A	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	758	+			203			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.609G>A	CCDS14217.1																																																																																				0.478	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		44	17	0	0	0	1	0	44	17				
KIF20B	9585	broad.mit.edu	37	10	91512349	91512349	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr10:91512349C>T	ENST00000371728.3	+	25	4313	c.4248C>T	c.(4246-4248)tgC>tgT	p.C1416C	KIF20B_ENST00000260753.4_Silent_p.C1376C|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Silent_p.C1446C	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1416					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGAAAAATGCAATGATTTGG	0.328																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(4336-4338)tgC>tgT		kinesin family member 20B							73.0	70.0	71.0					10																	91512349		2202	4297	6499	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91512349C>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4248C>T	10.37:g.91512349C>T						KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000371728.3_Silent_p.C1416C|KIF20B_ENST00000260753.4_Silent_p.C1376C	p.C1446C			Q96Q89	KI20B_HUMAN			25	4410	+			1416					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.4338C>T																																																																																					0.328	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		11	20	0	0	0	1	0	11	20				
ROBO2	6092	broad.mit.edu	37	3	77666801	77666801	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:77666801C>A	ENST00000461745.1	+	22	4331	c.3431C>A	c.(3430-3432)tCc>tAc	p.S1144Y	ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160Y|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1144					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTGCTATCTCCTTTGGACAG	0.512																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3430-3432)tCc>tAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							99.0	97.0	97.0					3																	77666801		2040	4196	6236	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77666801C>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3431C>A	3.37:g.77666801C>A	ENSP00000417164:p.Ser1144Tyr					ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160Y	p.S1144Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	22	4331	+			1144					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3431C>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.978918|3.978918	0.74360|0.74360	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.81163	.|-1.46;-1.41;-1.22	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.45126	.|D	.|0.000396	D|D	0.89643|0.89643	0.6774|0.6774	M|M	0.70595|0.70595	2.14|2.14	.|0.31366	.|N	.|0.680822	.|D;D;D	.|0.65815	.|0.995;0.991;0.981	.|D;P;P	.|0.75484	.|0.986;0.822;0.592	D|D	0.90171|0.90171	0.4235|0.4235	4|9	.|0.87932	.|D	.|0	.|.	19.5819|19.5819	0.95471|0.95471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1160;1144;1144	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	T|Y	301|1160;1160;1144;1144	.|ENSP00000417335:S1160Y;ENSP00000417164:S1144Y;ENSP00000327536:S1144Y	.|ENSP00000327536:S1144Y	P|S	+|+	1|2	0|0	ROBO2|ROBO2	77749491|77749491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	7.487000|7.487000	0.81328|0.81328	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.512	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		25	54	1	0	3.83957e-06	1	4.00896e-06	25	54				
GALNT8	26290	broad.mit.edu	37	12	4853823	4853823	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:4853823G>A	ENST00000252318.2	+	4	1154	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	273	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CACAGCAGACGTGGTCGCCAT	0.498																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(817-819)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							65.0	50.0	55.0					12																	4853823		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4853823G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.817G>A	12.37:g.4853823G>A	ENSP00000252318:p.Val273Met						p.V273M	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			4	1154	+			273			Catalytic subdomain A.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.817G>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035132	0.75617	.	.	ENSG00000130035	ENST00000252318	T	0.60424	0.19	4.5	4.5	0.54988	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000003	T	0.74809	0.3765	M	0.85197	2.74	0.43308	D	0.995316	D	0.89917	1.0	D	0.97110	1.0	T	0.77115	-0.2707	9	.	.	.	.	8.3421	0.32249	0.1049:0.0:0.8951:0.0	.	273	Q9NY28	GALT8_HUMAN	M	273	ENSP00000252318:V273M	.	V	+	1	0	GALNT8	4724084	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	3.889000	0.56212	2.330000	0.79161	0.484000	0.47621	GTG		0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		10	20	0	0	0	1	0	10	20				
ACE2	59272	broad.mit.edu	37	X	15605910	15605910	+	Missense_Mutation	SNP	G	G	C	rs377035576		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:15605910G>C	ENST00000252519.3	-	6	870	c.768C>G	c.(766-768)atC>atG	p.I256M	ACE2_ENST00000427411.1_Missense_Mutation_p.I256M			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	256					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CAATTGGACTGATATAGGAAG	0.388																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(766-768)atC>atG		angiotensin I converting enzyme 2	Moexipril(DB00691)						155.0	137.0	143.0					X																	15605910		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15605910G>C	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.768C>G	X.37:g.15605910G>C	ENSP00000252519:p.Ile256Met					ACE2_ENST00000252519.3_Missense_Mutation_p.I256M	p.I256M	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			7	984	-	Hepatocellular(33;0.183)		256					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.768C>G	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	g	6.081	0.383229	0.11524	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.41758	0.99;0.99	5.68	2.91	0.33838	.	0.213099	0.48286	N	0.000190	T	0.53012	0.1770	M	0.73319	2.225	0.25831	N	0.984166	B	0.32862	0.387	P	0.47102	0.537	T	0.53114	-0.8484	10	0.72032	D	0.01	-11.1438	10.1516	0.42796	0.1416:0.115:0.7435:0.0	.	256	Q9BYF1	ACE2_HUMAN	M	256	ENSP00000252519:I256M;ENSP00000389326:I256M	ENSP00000252519:I256M	I	-	3	3	ACE2	15515831	1.000000	0.71417	0.026000	0.17262	0.004000	0.04260	1.650000	0.37292	0.179000	0.19938	-1.029000	0.02412	ATC		0.388	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			35	19	0	0	0	1	0	35	19				
ADAM2	2515	broad.mit.edu	37	8	39624531	39624531	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624531G>T	ENST00000265708.4	-	14	1446	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	ADAM2_ENST00000379853.2_Missense_Mutation_p.S322Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y|ADAM2_ENST00000521880.1_Missense_Mutation_p.S448Y	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	448	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCTTCAAAGGAAGGCCTACA	0.383																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1342-1344)tCc>tAc		ADAM metallopeptidase domain 2							146.0	132.0	137.0					8																	39624531		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624531G>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1343C>A	8.37:g.39624531G>T	ENSP00000265708:p.Ser448Tyr					ADAM2_ENST00000379853.2_Missense_Mutation_p.S322Y|ADAM2_ENST00000521880.1_Missense_Mutation_p.S448Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y	p.S448Y	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1446	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	448			Disintegrin.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1343C>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429535	0.25726	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	4.83	1.72	0.24424	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.35364	0.0929	M	0.84683	2.71	0.09310	N	1	D;P;D;D	0.64830	0.987;0.82;0.992;0.994	D;P;D;D	0.69479	0.951;0.601;0.94;0.964	T	0.07046	-1.0793	8	.	.	.	.	6.7639	0.23556	0.0:0.174:0.4684:0.3576	.	448;322;429;448	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	Y	429;322;448;448	ENSP00000343854:S429Y;ENSP00000369182:S322Y;ENSP00000265708:S448Y;ENSP00000429352:S448Y	.	S	-	2	0	ADAM2	39743688	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	0.509000	0.28195	0.655000	0.94253	TCC		0.383	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		5	123	1	0	2.0095e-06	1	2.16173e-06	5	123				
LY96	23643	broad.mit.edu	37	8	74922262	74922262	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:74922262A>T	ENST00000284818.2	+	3	320	c.229A>T	c.(229-231)Aat>Tat	p.N77Y	LY96_ENST00000518893.1_Missense_Mutation_p.N47Y	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	77					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 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)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATTATATTTCAATCTCTATAT	0.328																																					GBM(131;1357 1748 34893 50149 52212)	ENST00000284818.2																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(229-231)Aat>Tat		lymphocyte antigen 96							73.0	74.0	74.0					8																	74922262		2203	4300	6503	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922262A>T	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.229A>T	8.37:g.74922262A>T	ENSP00000284818:p.Asn77Tyr					LY96_ENST00000518893.1_Missense_Mutation_p.N47Y	p.N77Y	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	320	+	Breast(64;0.0311)		77					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.229A>T	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121872	0.56613	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.75260	-0.92;-0.92	4.77	4.77	0.60923	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.197078	0.35805	N	0.002961	D	0.84602	0.5508	M	0.76838	2.35	0.36223	D	0.852122	D	0.89917	1.0	D	0.97110	1.0	D	0.88713	0.3224	10	0.66056	D	0.02	.	10.8274	0.46640	1.0:0.0:0.0:0.0	.	77	Q9Y6Y9	LY96_HUMAN	Y	77;47	ENSP00000284818:N77Y;ENSP00000430533:N47Y	ENSP00000284818:N77Y	N	+	1	0	LY96	75084816	0.970000	0.33590	0.998000	0.56505	0.696000	0.40369	3.933000	0.56545	2.120000	0.65058	0.482000	0.46254	AAT		0.328	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		17	46	0	0	0	1	0	17	46				
DNM1L	10059	broad.mit.edu	37	12	32884346	32884346	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:32884346G>A	ENST00000549701.1	+	11	1331	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000452533.2_Silent_p.R419R|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.R432R			O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1255-1257)cgG>cgA		dynamin 1-like							111.0	115.0	113.0					12																	32884346		2203	4300	6503	SO:0001819	synonymous_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884346G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1257G>A	12.37:g.32884346G>A						YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000547312.1_Silent_p.R419R	p.R419R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			11	1421	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		419			Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	c.1257G>A	CCDS8729.1																																																																																				0.418	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		4	126	0	0	0	1	0	4	126				
STAC	6769	broad.mit.edu	37	3	36570362	36570362	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:36570362G>T	ENST00000273183.3	+	10	1295	c.995G>T	c.(994-996)gGc>gTc	p.G332V	STAC_ENST00000457375.2_Missense_Mutation_p.G271V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	332	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GACAGAATTGGCTTCTTTCCA	0.358																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(994-996)gGc>gTc		SH3 and cysteine rich domain							71.0	70.0	70.0					3																	36570362		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36570362G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.995G>T	3.37:g.36570362G>T	ENSP00000273183:p.Gly332Val					STAC_ENST00000457375.2_Missense_Mutation_p.G271V	p.G332V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			10	1295	+			332			SH3.		B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.995G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705262	0.89018	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	D;D	0.88201	-2.35;-2.35	5.45	5.45	0.79879	Src homology-3 domain (5);Spectrin alpha chain, SH3 domain (1);	0.047283	0.85682	D	0.000000	D	0.96719	0.8929	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.97705	1.0187	10	0.87932	D	0	.	19.2706	0.94008	0.0:0.0:1.0:0.0	.	271;332	E9PEA7;Q99469	.;STAC_HUMAN	V	332;271;264	ENSP00000273183:G332V;ENSP00000393713:G271V	ENSP00000273183:G332V	G	+	2	0	STAC	36545366	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.188000	0.94921	2.722000	0.93159	0.655000	0.94253	GGC		0.358	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		19	28	1	0	5.35267e-07	1	5.84676e-07	19	28				
ARNTL2	56938	broad.mit.edu	37	12	27540209	27540209	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:27540209C>T	ENST00000266503.5	+	7	631	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F	ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F|ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000544915.1_Missense_Mutation_p.L171F|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	205	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGGAAAAATTCTCTTCGTTTC	0.289																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(511-513)Ctc>Ttc		aryl hydrocarbon receptor nuclear translocator-like 2							113.0	116.0	115.0					12																	27540209		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27540209C>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.613C>T	12.37:g.27540209C>T	ENSP00000266503:p.Leu205Phe					ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.L205F	p.L171F	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			6	730	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		205					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.511C>T	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582072	0.46006	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	3.79	0.756	0.18421	PAS (2);PAS fold (1);	0.625655	0.15693	N	0.249353	T	0.28962	0.0719	M	0.61387	1.9	0.36521	D	0.870156	B;P;B;B;P;P	0.44578	0.245;0.838;0.245;0.245;0.468;0.566	B;P;B;B;B;P	0.52343	0.222;0.696;0.222;0.222;0.258;0.624	T	0.23583	-1.0184	10	0.54805	T	0.06	.	5.174	0.15126	0.1628:0.6583:0.0:0.1789	.	168;171;168;157;191;205	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	F	171;168;168;191;157;205;120	ENSP00000442438:L171F;ENSP00000379238:L168F;ENSP00000438545:L168F;ENSP00000312247:L191F;ENSP00000261178:L157F;ENSP00000266503:L205F;ENSP00000445836:L120F	ENSP00000261178:L157F	L	+	1	0	ARNTL2	27431476	0.127000	0.22367	0.998000	0.56505	0.993000	0.82548	0.043000	0.13971	0.040000	0.15660	0.655000	0.94253	CTC		0.289	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		17	45	0	0	0	1	0	17	45				
MEGF10	84466	broad.mit.edu	37	5	126676272	126676272	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:126676272G>A	ENST00000274473.6	+	5	536	c.269G>A	c.(268-270)cGc>cAc	p.R90H	MEGF10_ENST00000508365.1_Missense_Mutation_p.R90H|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90H|MEGF10_ENST00000418761.2_Missense_Mutation_p.R90H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	90	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTATAGGCGCAAGTCTCAG	0.423																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(268-270)cGc>cAc		multiple EGF-like-domains 10							200.0	187.0	191.0					5																	126676272		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126676272G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.269G>A	5.37:g.126676272G>A	ENSP00000274473:p.Arg90His					MEGF10_ENST00000418761.2_Missense_Mutation_p.R90H|MEGF10_ENST00000508365.1_Missense_Mutation_p.R90H|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90H	p.R90H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	5	536	+		Prostate(80;0.165)	90			EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.269G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256557	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.80909	-1.43;2.73;2.73;-1.43	5.3	5.3	0.74995	EMI domain (1);	0.000000	0.64402	D	0.000001	D	0.86518	0.5952	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.81988	-0.0680	10	0.15952	T	0.53	-36.1114	18.1017	0.89508	0.0:0.0:1.0:0.0	.	90;90	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	H	90	ENSP00000423354:R90H;ENSP00000423195:R90H;ENSP00000416284:R90H;ENSP00000274473:R90H	ENSP00000274473:R90H	R	+	2	0	MEGF10	126704171	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.700000	0.84556	2.648000	0.89879	0.650000	0.86243	CGC		0.423	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		8	92	0	0	0	1	0	8	92				
TJP3	27134	broad.mit.edu	37	19	3731956	3731956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:3731956C>T	ENST00000541714.2	+	6	1099	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q232*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	213	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGTCAGATCTTCAT	0.582																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(637-639)Cag>Tag		tight junction protein 3							51.0	46.0	47.0					19																	3731956		2203	4300	6503	SO:0001587	stop_gained	27134					tight junction	protein binding	g.chr19:3731956C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.637C>T	19.37:g.3731956C>T	ENSP00000439278:p.Gln213*					TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q232*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*	p.Q213*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1099	+			213			PDZ 2.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Nonsense_Mutation	SNP	ENST00000541714.2	37	c.637C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	36	5.956147	0.97145	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	.	.	.	4.37	4.37	0.52481	.	0.071955	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.0665	0.80887	0.0:1.0:0.0:0.0	.	.	.	.	X	213;177;213;232	.	ENSP00000262968:Q232X	Q	+	1	0	TJP3	3682956	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.166000	0.77553	2.257000	0.74773	0.313000	0.20887	CAG		0.582	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			24	61	0	0	0	1	0	24	61				
BPIFB1	92747	broad.mit.edu	37	20	31889127	31889127	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:31889127C>T	ENST00000253354.1	+	9	997	c.836C>T	c.(835-837)cCg>cTg	p.P279L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	279					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GACAACATCCCGTTCAGCCTC	0.532																																						ENST00000253354.1																			0											c.(835-837)cCg>cTg		BPI fold containing family B, member 1							161.0	127.0	139.0					20																	31889127		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31889127C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.836C>T	20.37:g.31889127C>T	ENSP00000253354:p.Pro279Leu					BPIFB1_ENST00000464032.1_3'UTR	p.P279L	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			9	997	+			279					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.836C>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890835	0.33348	.	.	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.06608	3.28	5.24	0.853	0.19001	.	0.325367	0.26411	N	0.024539	T	0.04724	0.0128	M	0.62723	1.935	0.09310	N	1	D	0.53462	0.96	B	0.37198	0.243	T	0.39057	-0.9632	10	0.17369	T	0.5	-6.3736	3.3751	0.07234	0.3066:0.4604:0.1487:0.0843	.	279	Q8TDL5	BPIB1_HUMAN	L	279;110	ENSP00000253354:P279L	ENSP00000253354:P279L	P	+	2	0	BPIFB1	31352788	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.098000	0.11024	0.353000	0.24079	-0.270000	0.10280	CCG		0.532	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		29	65	0	0	0	1	0	29	65				
CELF4	56853	broad.mit.edu	37	18	34853050	34853050	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr18:34853050G>C	ENST00000591282.1	-	7	877	c.878C>G	c.(877-879)gCc>gGc	p.A293G	CELF4_ENST00000601019.1_Missense_Mutation_p.A291G|CELF4_ENST00000420428.2_Missense_Mutation_p.A293G|CELF4_ENST00000591287.1_Missense_Mutation_p.A292G|CELF4_ENST00000334919.5_Missense_Mutation_p.A283G|CELF4_ENST00000588597.1_Missense_Mutation_p.A282G|CELF4_ENST00000603232.1_Missense_Mutation_p.A292G|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.A291G|CELF4_ENST00000412753.1_Missense_Mutation_p.A292G			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	293	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CATCTGGGCGGCAGCGAAGGC	0.642																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(877-879)gCc>gGc		CUGBP, Elav-like family member 4							33.0	37.0	35.0					18																	34853050		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34853050G>C	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.878C>G	18.37:g.34853050G>C	ENSP00000464794:p.Ala293Gly					CELF4_ENST00000361795.5_Missense_Mutation_p.A291G|CELF4_ENST00000591282.1_Missense_Mutation_p.A293G|CELF4_ENST00000334919.5_Missense_Mutation_p.A283G|CELF4_ENST00000412753.1_Missense_Mutation_p.A292G|CELF4_ENST00000588597.1_Missense_Mutation_p.A282G|CELF4_ENST00000591287.1_Missense_Mutation_p.A292G|CELF4_ENST00000601019.1_Missense_Mutation_p.A291G|CELF4_ENST00000603232.1_Missense_Mutation_p.A292G	p.A293G	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			7	1273	-			293			Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.878C>G	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093243	0.94149	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T	0.76578	-0.96;-1.03	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.88775	2.98	0.80722	D	1	P;B;P;B;B;P	0.44659	0.84;0.016;0.756;0.307;0.008;0.803	P;B;P;P;B;B	0.60173	0.557;0.01;0.87;0.493;0.043;0.313	D	0.90453	0.4440	10	0.59425	D	0.04	-8.8569	18.6382	0.91385	0.0:0.0:1.0:0.0	.	291;282;18;283;292;293	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	G	293;292;291;283;176	ENSP00000406823:A292G;ENSP00000335631:A283G	ENSP00000335631:A283G	A	-	2	0	CELF4	33107048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.645000	0.89757	0.655000	0.94253	GCC		0.642	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		20	43	0	0	0	1	0	20	43				
F2RL3	9002	broad.mit.edu	37	19	17000463	17000463	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:17000463C>T	ENST00000248076.3	+	2	519	c.189C>T	c.(187-189)ctC>ctT	p.L63L	F2RL3_ENST00000599210.1_Missense_Mutation_p.S62F	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	63					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCCTGGAGCTCCCGGACAGCT	0.687																																						ENST00000599210.1																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(184-186)tCc>tTc		coagulation factor II (thrombin) receptor-like 3							39.0	40.0	40.0					19																	17000463		2201	4298	6499	SO:0001819	synonymous_variant	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000463C>T	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.189C>T	19.37:g.17000463C>T						F2RL3_ENST00000248076.3_Silent_p.L63L	p.S62F			Q96RI0	PAR4_HUMAN			2	185	+			0					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.185C>T	CCDS12350.1																																																																																				0.687	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			5	56	0	0	0	1	0	5	56				
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468																																					NSCLC(40;560 1096 7501 40315 49546)	ENST00000405086.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(1471-1473)aaA>aaG		GTF2I repeat domain containing 2							141.0	117.0	125.0					7																	74212378		2203	4299	6502	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74212378T>C	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1473A>G	7.37:g.74212378T>C						GTF2IRD2_ENST00000451013.2_Silent_p.K38K	p.K491K	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN			16	1662	-			491					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.1473A>G	CCDS5576.1																																																																																				0.468	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		4	157	0	0	0	1	0	4	157				
TARSL2	123283	broad.mit.edu	37	15	102241290	102241290	+	Splice_Site	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr15:102241290C>T	ENST00000335968.3	-	10	1535	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	440					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTAACTTACTCGTATGAAATC	0.313																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.e10+1		threonyl-tRNA synthetase-like 2							36.0	38.0	38.0					15																	102241290		2201	4297	6498	SO:0001630	splice_region_variant	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102241290C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1320+1G>A	15.37:g.102241290C>T							p.R440_splice	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		10	1535	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		440					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Splice_Site	SNP	ENST00000335968.3	37	c.1320_splice	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099638	0.76983	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.71934	-0.61;-0.61	4.81	3.87	0.44632	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.196015	0.39909	N	0.001233	T	0.75939	0.3918	H	0.95004	3.61	0.40137	D	0.976789	P	0.46277	0.875	B	0.41332	0.354	T	0.82289	-0.0531	10	0.87932	D	0	-11.9706	7.9062	0.29763	0.0:0.8112:0.0:0.1888	.	440	A2RTX5	SYTC2_HUMAN	Q	440;345;440	ENSP00000338093:R440Q;ENSP00000439899:R440Q	ENSP00000329291:R345Q	R	-	2	0	TARSL2	100058813	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.523000	0.45580	2.363000	0.80096	0.655000	0.94253	CGA		0.313	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	Missense_Mutation	13	27	0	0	0	1	0	13	27				
PRKCSH	5589	broad.mit.edu	37	19	11559781	11559781	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:11559781G>A	ENST00000589838.1	+	14	1318	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000252455.2_Missense_Mutation_p.G440R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	440	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ACCCAAACTCGGGGGCTCTCC	0.647																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1318-1320)Ggg>Agg		protein kinase C substrate 80K-H							94.0	102.0	100.0					19																	11559781		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559781G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1318G>A	19.37:g.11559781G>A	ENSP00000465461:p.Gly440Arg					PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.G440R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R	p.G440R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			15	1654	+			440			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1318G>A	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946255	0.53079	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.78481	-1.18;-1.18	5.23	4.2	0.49525	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.91349	0.5103	10	0.87932	D	0	-36.4627	12.773	0.57432	0.0811:0.0:0.9189:0.0	.	447;447;437;440	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	R	440;437	ENSP00000252455:G440R;ENSP00000395616:G437R	ENSP00000252455:G440R	G	+	1	0	PRKCSH	11420781	1.000000	0.71417	0.026000	0.17262	0.003000	0.03518	8.681000	0.91228	1.208000	0.43306	-0.140000	0.14226	GGG		0.647	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			4	132	0	0	0	1	0	4	132				
NAP1L5	266812	broad.mit.edu	37	4	89618405	89618405	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr4:89618405G>A	ENST00000323061.5	-	1	981	c.501C>T	c.(499-501)gcC>gcT	p.A167A	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	167					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CGTCATGTTTGGCCCCCGCGG	0.602																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(499-501)gcC>gcT		nucleosome assembly protein 1-like 5							99.0	107.0	104.0					4																	89618405		2203	4300	6503	SO:0001819	synonymous_variant	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618405G>A	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.501C>T	4.37:g.89618405G>A						HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	p.A167A	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	981	-			167						Silent	SNP	ENST00000323061.5	37	c.501C>T	CCDS3632.1																																																																																				0.602	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		45	115	0	0	0	1	0	45	115				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	12	0	0	0	1	0	3	12				
KCNU1	157855	broad.mit.edu	37	8	36698073	36698073	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:36698073G>A	ENST00000399881.3	+	15	1648	c.1611G>A	c.(1609-1611)atG>atA	p.M537I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	537	Segment S8.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGCTGGAATGAGCTTTCCTG	0.428																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1609-1611)atG>atA		potassium channel, subfamily U, member 1							90.0	83.0	85.0					8																	36698073		1902	4108	6010	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698073G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1611G>A	8.37:g.36698073G>A	ENSP00000382770:p.Met537Ile						p.M537I	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	15	1648	+			537			Segment S8.			Missense_Mutation	SNP	ENST00000399881.3	37	c.1611G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645737	0.67358	.	.	ENSG00000215262	ENST00000399881	T	0.40756	1.02	5.7	5.7	0.88788	Potassium channel, calcium-activated, BK, alpha subunit (2);	0.000000	0.46145	U	0.000318	T	0.64616	0.2614	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64162	-0.6472	10	0.46703	T	0.11	-7.696	15.3219	0.74129	0.0:0.0:1.0:0.0	.	537	A8MYU2	KCNU1_HUMAN	I	537	ENSP00000382770:M537I	ENSP00000382770:M537I	M	+	3	0	KCNU1	36817231	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	4.993000	0.63895	2.678000	0.91216	0.655000	0.94253	ATG		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		7	18	0	0	0	1	0	7	18				
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666	byFrequency	TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:35232200T>G	ENST00000492450.1	+	4	1003	c.914T>G	c.(913-915)gTc>gGc	p.V305G	ZNF181_ENST00000459757.2_Missense_Mutation_p.V304G|ZNF181_ENST00000392232.3_Missense_Mutation_p.V349G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413													T|||	3	0.000599042	0.0	0.0	5008	,	,		22105	0.002		0.0	False		,,,				2504	0.001					ENST00000392232.3																			4	Substitution - Missense(4)	p.V241G(4)	lung(2)|endometrium(2)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1045-1047)gTc>gGc		zinc finger protein 181							91.0	88.0	89.0					19																	35232200		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232200T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.914T>G	19.37:g.35232200T>G	ENSP00000420727:p.Val305Gly					ZNF181_ENST00000492450.1_Missense_Mutation_p.V305G|ZNF181_ENST00000459757.1_Missense_Mutation_p.V304G	p.V349G			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1214	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		305					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1046T>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	1.102	-0.660828	0.03454	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.38560	2.43;1.13;1.13	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	N	0.10733	0.035	0.09310	N	0.999999	P;B	0.38978	0.652;0.0	B;B	0.30179	0.112;0.001	T	0.04017	-1.0984	9	0.22109	T	0.4	.	5.4169	0.16378	0.2509:0.0:0.0:0.749	.	304;305	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	G	349;304;305;304	ENSP00000376065:V349G;ENSP00000420727:V305G;ENSP00000419435:V304G	ENSP00000376065:V349G	V	+	2	0	ZNF181	39924040	0.000000	0.05858	0.880000	0.34516	0.765000	0.43378	-0.861000	0.04268	1.565000	0.49641	0.402000	0.26972	GTC		0.413	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		3	34	0	0	0	1	0	3	34				
RUNX3	864	broad.mit.edu	37	1	25233874	25233874	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:25233874C>T	ENST00000308873.6	-	4	587	c.579G>A	c.(577-579)ccG>ccA	p.P193P	RUNX3_ENST00000338888.3_Silent_p.P207P|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Silent_p.P100P|RUNX3_ENST00000399916.1_Silent_p.P207P	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	193	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGTCAGGGAACGGCTTGGTCT	0.632																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(619-621)ccG>ccA		runt-related transcription factor 3							54.0	48.0	50.0					1																	25233874		2203	4300	6503	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25233874C>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.579G>A	1.37:g.25233874C>T						RUNX3_ENST00000338888.3_Silent_p.P207P|RUNX3_ENST00000308873.6_Silent_p.P193P|RUNX3_ENST00000540420.1_Silent_p.P100P|RUNX3_ENST00000496967.1_5'UTR	p.P207P	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	5	1059	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	193			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.621G>A	CCDS257.1																																																																																				0.632	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		12	31	0	0	0	1	0	12	31				
SDHAP1	255812	broad.mit.edu	37	3	195692347	195692347	+	RNA	SNP	G	G	A	rs62282794		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:195692347G>A	ENST00000427841.1	-	0	2155					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTCCTCCAGTGCTCCTCAAAG	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195692347G>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692347G>A								NR_003264.2						0	2155	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	20	0	0	0	1	0	5	20				
ADAM2	2515	broad.mit.edu	37	8	39624555	39624555	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624555G>C	ENST00000265708.4	-	14	1422	c.1319C>G	c.(1318-1320)tCa>tGa	p.S440*	ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	440	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTTTCTTTTGACATAAACTG	0.343																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1318-1320)tCa>tGa		ADAM metallopeptidase domain 2							120.0	111.0	114.0					8																	39624555		2203	4300	6503	SO:0001587	stop_gained	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624555G>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1319C>G	8.37:g.39624555G>C	ENSP00000265708:p.Ser440*					ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421*	p.S440*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1422	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	440			Disintegrin.		P78326|Q9UQQ8	Nonsense_Mutation	SNP	ENST00000265708.4	37	c.1319C>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600157	0.46423	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	4.83	-5.28	0.02755	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3405	0.00332	0.2923:0.1329:0.2128:0.362	.	.	.	.	X	421;314;440;440	.	.	S	-	2	0	ADAM2	39743712	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.153000	0.10144	-0.937000	0.03719	-0.211000	0.12701	TCA		0.343	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		4	113	0	0	0	1	0	4	113				
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115.0	112.0	113.0					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	134	0	0	0	1	0	4	134				
BCKDHA	593	broad.mit.edu	37	19	41932284	41932284	+	IGR	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:41932284C>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'UTR|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Missense_Mutation_p.G134S	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTGCCACCACCTCCAGGCAGC	0.632																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(400-402)Ggt>Agt		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8							35.0	36.0	36.0					19																	41932284		2201	4297	6498	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932284C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932284C>T						B3GNT8_ENST00000601379.1_5'UTR	p.G134S	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	853	-			134			Poly-Gly.		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.400G>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	7.271	0.607133	0.14002	.	.	ENSG00000177191	ENST00000321702	T	0.33438	1.41	3.5	2.43	0.29744	.	0.593826	0.15848	N	0.241695	T	0.17704	0.0425	L	0.31294	0.92	0.09310	N	1	B	0.22276	0.067	B	0.11329	0.006	T	0.19418	-1.0306	10	0.17832	T	0.49	.	6.2023	0.20583	0.0:0.8524:0.0:0.1476	.	134	Q7Z7M8	B3GN8_HUMAN	S	134	ENSP00000312700:G134S	ENSP00000312700:G134S	G	-	1	0	B3GNT8	46624124	0.004000	0.15560	0.005000	0.12908	0.581000	0.36288	1.138000	0.31491	0.995000	0.38917	0.462000	0.41574	GGT		0.632	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		5	40	0	0	0	1	0	5	40				
SLC2A10	81031	broad.mit.edu	37	20	45354070	45354070	+	Missense_Mutation	SNP	G	G	A	rs376346077		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:45354070G>A	ENST00000359271.2	+	2	645	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	132			R -> W (in ATS). {ECO:0000269|PubMed:17935213}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCACGGCAGCGGGGAGTGCTG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		20918	0.0		0.0	False		,,,				2504	0.001					ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(394-396)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 10		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	85.0	86.0		395	5.3	1.0	20		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A10	NM_030777.3	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	132/542	45354070	2,13004	2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354070G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.395G>A	20.37:g.45354070G>A	ENSP00000352216:p.Arg132Gln						p.R132Q	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	645	+		Myeloproliferative disorder(115;0.0122)	132		R -> W (in ATS).			A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.395G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622559	0.87460	2.27E-4	1.16E-4	ENSG00000197496	ENST00000359271	D	0.81996	-1.56	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.95252	0.8460	H	0.98996	4.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.97314	0.9939	10	0.87932	D	0	.	18.9831	0.92762	0.0:0.0:1.0:0.0	.	132	O95528	GTR10_HUMAN	Q	132	ENSP00000352216:R132Q	ENSP00000352216:R132Q	R	+	2	0	SLC2A10	44787477	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	9.852000	0.99516	2.494000	0.84150	0.407000	0.27541	CGG		0.637	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			10	75	0	0	0	1	0	10	75				
UBASH3B	84959	broad.mit.edu	37	11	122659912	122659912	+	Silent	SNP	C	C	T	rs373957579		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr11:122659912C>T	ENST00000284273.5	+	6	1251	c.876C>T	c.(874-876)agC>agT	p.S292S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	292	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCAGCACCAGCGAGGGTTGGA	0.527																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(874-876)agC>agT		ubiquitin associated and SH3 domain containing B		C		1,4403	2.1+/-5.4	0,1,2201	178.0	173.0	175.0		876	-2.9	1.0	11		175	0,8598		0,0,4299	no	coding-synonymous	UBASH3B	NM_032873.4		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		292/650	122659912	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659912C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.876C>T	11.37:g.122659912C>T							p.S292S	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	6	1251	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	292			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.876C>T	CCDS31694.1																																																																																				0.527	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		64	153	0	0	0	1	0	64	153				
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr21:11058330G>A	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							72.0	55.0	60.0					21																	11058330		692	1591	2283			85319							g.chr21:11058330G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058330G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		14	155	0	0	0	1	0	14	155				
ZMYND8	23613	broad.mit.edu	37	20	45853081	45853081	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:45853081C>T	ENST00000311275.7	-	19	3338	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	ZMYND8_ENST00000540497.1_Missense_Mutation_p.A977T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A1003T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A897T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A951T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A978T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A983T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A1056T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A920T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A1003T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A1049T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1029					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGCAGTTGGCGCACCACTGC	0.582																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(3085-3087)Gcc>Acc		zinc finger, MYND-type containing 8							256.0	202.0	220.0					20																	45853081		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45853081C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3085G>A	20.37:g.45853081C>T	ENSP00000312237:p.Ala1029Thr					ZMYND8_ENST00000540497.1_Missense_Mutation_p.A977T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A978T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A1056T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A983T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A1003T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A897T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A951T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A1003T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A920T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A1049T	p.A1029T			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		19	3338	-			1029					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.3085G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.613590|4.613590	0.87359|0.87359	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T|.	0.55052|.	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54|.	5.45|5.45	4.5|4.5	0.54988|0.54988	Zinc finger, MYND-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79724|0.79724	0.4495|0.4495	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.963;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.99;1.0;1.0;1.0|.	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.629;0.999;1.0;0.999;0.999;0.999;0.998;0.998;0.999;1.0;1.0;1.0;0.918;0.993;0.999;1.0|.	T|T	0.83058|0.83058	-0.0149|-0.0149	10|5	0.87932|.	D|.	0|.	-15.2878|-15.2878	16.2118|16.2118	0.82165|0.82165	0.0:0.8667:0.1333:0.0|0.0:0.8667:0.1333:0.0	.|.	897;1056;951;958;1049;983;978;1003;1003;1029;920;978;977;922;931;1029|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	T|H	978;1029;897;984;1050;1003;1029;1056;1029;920;1003;951;977|910	ENSP00000354166:A978T;ENSP00000312237:A1029T;ENSP00000392964:A897T;ENSP00000335537:A1003T;ENSP00000379577:A1029T;ENSP00000439800:A1056T;ENSP00000348246:A1029T;ENSP00000396725:A920T;ENSP00000418210:A1003T;ENSP00000361093:A951T;ENSP00000443086:A977T|.	ENSP00000262975:A984T|.	A|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45286488|45286488	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.891000|0.891000	0.51852|0.51852	7.767000|7.767000	0.85331|0.85331	1.274000|1.274000	0.44362|0.44362	-0.175000|-0.175000	0.13238|0.13238	GCC|CGC		0.582	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	156	0	0	0	1	0	4	156				
SLAMF9	89886	broad.mit.edu	37	1	159922246	159922246	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:159922246G>A	ENST00000368093.3	-	3	586	c.470C>T	c.(469-471)tCt>tTt	p.S157F	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	157	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S157Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCTCCACAGAGCACACCAG	0.547																																						ENST00000368093.3																			1	Substitution - Missense(1)	p.S157Y(1)	ovary(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(469-471)tCt>tTt		SLAM family member 9							145.0	139.0	141.0					1																	159922246		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159922246G>A	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.470C>T	1.37:g.159922246G>A	ENSP00000357072:p.Ser157Phe					SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	p.S157F	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	586	-	all_hematologic(112;0.093)		157			Ig-like C2-type.		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.470C>T	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305315	0.60305	.	.	ENSG00000162723	ENST00000368093	T	0.04119	3.7	4.89	2.73	0.32206	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.395756	0.28635	N	0.014643	T	0.03915	0.0110	M	0.72118	2.19	0.09310	N	1	P	0.37441	0.595	P	0.45881	0.496	T	0.28586	-1.0039	9	.	.	.	-1.0116	7.0579	0.25109	0.1017:0.0:0.717:0.1813	.	157	Q96A28	SLAF9_HUMAN	F	157	ENSP00000357072:S157F	.	S	-	2	0	SLAMF9	158188870	0.812000	0.29077	0.031000	0.17742	0.789000	0.44602	0.960000	0.29253	1.027000	0.39758	0.650000	0.86243	TCT		0.547	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		14	100	0	0	0	1	0	14	100				
PCDHAC1	56135	broad.mit.edu	37	5	140306725	140306725	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:140306725G>A	ENST00000253807.2	+	1	248	c.248G>A	c.(247-249)cGc>cAc	p.R83H	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R83H	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	83	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGACCGCGAACAGCTG	0.612																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(247-249)cGc>cAc									42.0	45.0	44.0					5																	140306725		2203	4300	6503	SO:0001583	missense	0							g.chr5:140306725G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.248G>A	5.37:g.140306725G>A	ENSP00000253807:p.Arg83His					PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R83H|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.R83H	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	248	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.248G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520112	0.85495	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.53857	0.6;0.6	5.5	4.62	0.57501	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81987	0.4939	H	0.96805	3.885	0.29790	N	0.833297	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83710	0.0187	9	0.87932	D	0	.	15.8024	0.78463	0.0:0.0:0.8631:0.1369	.	83;83	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	83	ENSP00000386356:R83H;ENSP00000253807:R83H	ENSP00000253807:R83H	R	+	2	0	PCDHAC1	140286909	1.000000	0.71417	0.999000	0.59377	0.422000	0.31414	7.913000	0.87471	1.278000	0.44430	0.561000	0.74099	CGC		0.612	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		16	25	0	0	0	1	0	16	25				
SIPA1L2	57568	broad.mit.edu	37	1	232601028	232601028	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:232601028T>G	ENST00000366630.1	-	8	2736	c.2378A>C	c.(2377-2379)aAa>aCa	p.K793T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	793	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTTCTGATTTATGGGCTGC	0.483																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2377-2379)aAa>aCa		signal-induced proliferation-associated 1 like 2							99.0	98.0	98.0					1																	232601028		1951	4189	6140	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232601028T>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2378A>C	1.37:g.232601028T>G	ENSP00000355589:p.Lys793Thr					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T	p.K793T			Q9P2F8	SI1L2_HUMAN			8	2736	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	793			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2378A>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496928	0.85069	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.50813	0.73;0.73	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78863	-0.2036	10	0.87932	D	0	-29.8055	16.143	0.81539	0.0:0.0:0.0:1.0	.	793	Q9P2F8	SI1L2_HUMAN	T	793	ENSP00000355589:K793T;ENSP00000262861:K793T	ENSP00000262861:K793T	K	-	2	0	SIPA1L2	230667651	1.000000	0.71417	0.985000	0.45067	0.889000	0.51656	8.040000	0.89188	2.206000	0.71126	0.528000	0.53228	AAA		0.483	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		34	82	0	0	0	1	0	34	82				
IFT122	55764	broad.mit.edu	37	3	129185799	129185799	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:129185799T>G	ENST00000348417.2	+	8	707	c.630T>G	c.(628-630)taT>taG	p.Y210*	IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Nonsense_Mutation_p.Y261*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60*|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000504021.1_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	210					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCAACAGATATATTCAGGAAA	0.468																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(781-783)taT>taG		intraflagellar transport 122 homolog (Chlamydomonas)							180.0	178.0	179.0					3																	129185799		2203	4300	6503	SO:0001587	stop_gained	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129185799T>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.630T>G	3.37:g.129185799T>G	ENSP00000324005:p.Tyr210*					IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60*|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Y210*|IFT122_ENST00000349441.2_Intron	p.Y261*	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			9	975	+			210					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Nonsense_Mutation	SNP	ENST00000348417.2	37	c.783T>G	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	T	42	9.194501	0.99096	.	.	ENSG00000163913	ENST00000296266;ENST00000431818;ENST00000348417	.	.	.	4.74	2.35	0.29111	.	0.220895	0.28914	N	0.013740	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.2686	7.0392	0.25010	0.0:0.1859:0.0:0.8141	.	.	.	.	X	261;60;210	.	ENSP00000296266:Y261X	Y	+	3	2	IFT122	130668489	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.292000	0.33342	0.331000	0.23511	0.379000	0.24179	TAT		0.468	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		31	76	0	0	0	1	0	31	76				
ADAM2	2515	broad.mit.edu	37	8	39624425	39624425	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624425G>A	ENST00000265708.4	-	14	1552	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000347580.4_Silent_p.I464I|ADAM2_ENST00000521880.1_Silent_p.I483I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	483	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCTATACAGATCCATTGAT	0.388																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1447-1449)atC>atT		ADAM metallopeptidase domain 2							155.0	147.0	150.0					8																	39624425		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624425G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1449C>T	8.37:g.39624425G>A						ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000521880.1_Silent_p.I483I|ADAM2_ENST00000347580.4_Silent_p.I464I	p.I483I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1552	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	483			Cys-rich.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1449C>T	CCDS34884.1																																																																																				0.388	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		5	120	0	0	0	1	0	5	120				
MYO1A	4640	broad.mit.edu	37	12	57430737	57430737	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:57430737G>A	ENST00000442789.2	-	21	2481	c.2194C>T	c.(2194-2196)Cgg>Tgg	p.R732W	MYO1A_ENST00000544473.1_Missense_Mutation_p.R570W|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.R732W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	732	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGTTTCCCCGAAACCAAGAG	0.517																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(2194-2196)Cgg>Tgg		myosin IA							130.0	125.0	127.0					12																	57430737		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57430737G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2194C>T	12.37:g.57430737G>A	ENSP00000393392:p.Arg732Trp					MYO1A_ENST00000544473.1_Missense_Mutation_p.R570W|MYO1A_ENST00000300119.3_Missense_Mutation_p.R732W	p.R732W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			21	2481	-			732			IQ 2.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2194C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458053	0.63401	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93247	-3.06;-3.06;-3.19	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	H	0.98133	4.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98251	1.0493	10	0.87932	D	0	.	11.5826	0.50900	0.0:0.0:0.8217:0.1783	.	732	Q9UBC5	MYO1A_HUMAN	W	732;732;570	ENSP00000300119:R732W;ENSP00000393392:R732W;ENSP00000440514:R570W	ENSP00000300119:R732W	R	-	1	2	MYO1A	55717004	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	1.674000	0.37544	2.570000	0.86706	0.563000	0.77884	CGG		0.517	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		37	80	0	0	0	1	0	37	80				
MYOM1	8736	broad.mit.edu	37	18	3094169	3094169	+	Splice_Site	SNP	G	G	C	rs200808890		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr18:3094169G>C	ENST00000356443.4	-	26	4196	c.3863C>G	c.(3862-3864)cCg>cGg	p.P1288R	MYOM1_ENST00000400569.3_Splice_Site_p.P1288R|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000261606.7_Splice_Site_p.P1192R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1288					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P1288R(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAAACCTACCGGGCCTTCAAA	0.408																																						ENST00000356443.4																			1	Substitution - Missense(1)	p.P1288R(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.e26+1		myomesin 1							72.0	69.0	70.0					18																	3094169		1812	4083	5895	SO:0001630	splice_region_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3094169G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3864+1C>G	18.37:g.3094169G>C						MYOM1_ENST00000400569.3_Splice_Site_p.P1288_splice|MYOM1_ENST00000261606.7_Splice_Site_p.P1192_splice	p.P1288_splice	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			26	4196	-			1288					Q14BD6|Q6H969|Q6ZUU0	Splice_Site	SNP	ENST00000356443.4	37	c.3864_splice	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820808	0.50633	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04758	3.56;3.56;3.56	5.55	4.66	0.58398	Immunoglobulin-like fold (1);	0.322273	0.36778	N	0.002410	T	0.06050	0.0157	L	0.42245	1.32	0.44918	D	0.997933	P;P	0.45176	0.852;0.769	B;B	0.42462	0.388;0.173	T	0.51196	-0.8736	10	0.20046	T	0.44	.	12.4283	0.55559	0.0:0.0:0.5401:0.4598	.	1192;1288	P52179-2;P52179	.;MYOM1_HUMAN	R	1288;1288;1192	ENSP00000348821:P1288R;ENSP00000383413:P1288R;ENSP00000261606:P1192R	ENSP00000261606:P1192R	P	-	2	0	MYOM1	3084169	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.913000	0.48790	1.534000	0.49203	0.655000	0.94253	CCG		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	Missense_Mutation	12	29	0	0	0	1	0	12	29				
WRN	7486	broad.mit.edu	37	8	31015025	31015025	+	Silent	SNP	C	C	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:31015025C>A	ENST00000298139.5	+	33	4210	c.3961C>A	c.(3961-3963)Cga>Aga	p.R1321R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1321					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGATGTTATCCGAAACCCTCC	0.483			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3961-3963)Cga>Aga	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							64.0	56.0	58.0					8																	31015025		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31015025C>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3961C>A	8.37:g.31015025C>A							p.R1321R	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	33	4210	+		Breast(100;0.195)	1321					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.3961C>A	CCDS6082.1																																																																																				0.483	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			3	32	1	0	0.004672	1	0.00473874	3	32				
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC								NR_001296.3						0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	17						7	17	---	---	---	---
FAM186B	84070	broad.mit.edu	37	12	49994194	49994203	+	Frame_Shift_Del	DEL	GTGTCCTTGC	GTGTCCTTGC	-			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:49994194_49994203delGTGTCCTTGC	ENST00000257894.2	-	4	1381_1390	c.1220_1229delGCAAGGACAC	c.(1219-1230)agcaaggacactfs	p.SKDT407fs	FAM186B_ENST00000544141.1_Frame_Shift_Del_p.SKDT317fs|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	407						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGCTCTCAGTGTCCTTGCTGCCGAACAC	0.538																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(949-960)atfs		family with sequence similarity 186, member B																																				SO:0001589	frameshift_variant	84070					protein complex		g.chr12:49994194_49994203delGTGTCCTTGC	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1220_1229delGCAAGGACAC	12.37:g.49994194_49994203delGTGTCCTTGC	ENSP00000257894:p.Ser407fs					PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Frame_Shift_Del_p.SKDT407fs|FAM186B_ENST00000551047.1_Intron	p.SKDT317fs			Q8IYM0	F186B_HUMAN			4	1549_1558	-			407					B4DZ15|Q8TCP7|Q9H0L3	Frame_Shift_Del	DEL	ENST00000257894.2	37	c.950_959delGCAAGGACAC	CCDS8788.1																																																																																				0.538	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		21	85						21	85	---	---	---	---
LINC00521	256369	broad.mit.edu	37	14	94467784	94467784	+	RNA	DEL	G	G	-			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:94467784delG	ENST00000444118.1	+	0	862					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		GCGTAATGCTGGGGGGCCCTC	0.667																																						ENST00000444118.1																			0																																																			0							g.chr14:94467784delG	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94467784delG								NR_024182.1						0	862	+								Q8N7S1	RNA	DEL	ENST00000444118.1	37																																																																																						0.667	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1			2	4						2	4	---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23379203	23379205	+	In_Frame_Del	DEL	ACT	ACT	-	rs138004955		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr16:23379203_23379205delACT	ENST00000343070.2	+	5	979_981	c.803_805delACT	c.(802-807)cactat>cat	p.Y269del	SCNN1B_ENST00000307331.5_In_Frame_Del_p.Y314del|SCNN1B_ENST00000568085.1_In_Frame_Del_p.Y269del|SCNN1B_ENST00000568923.1_In_Frame_Del_p.Y242del	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	269					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCTACCCTCACTATGGCAACTG	0.537																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(802-807)cat>c		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)																																			SO:0001651	inframe_deletion	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23379203_23379205delACT	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.803_805delACT	16.37:g.23379203_23379205delACT	ENSP00000345751:p.Tyr269del					SCNN1B_ENST00000568923.1_In_Frame_Del_p.HY241del|SCNN1B_ENST00000568085.1_In_Frame_Del_p.HY268del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.HY313del	p.HY268del	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	5	979_981	+			268					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	In_Frame_Del	DEL	ENST00000343070.2	37	c.803_805delACT	CCDS10609.1																																																																																				0.537	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			36	133						36	133	---	---	---	---
TSPAN6	7105	broad.mit.edu	37	X	99890723	99890723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:99890723delA	ENST00000373020.4	-	2	219	c.108delT	c.(106-108)cttfs	p.L36fs	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	36					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						TGCCAACTGCAAGAAGGATAA	0.448																																						ENST00000373020.4																			0				endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						c.(106-108)ctfs		tetraspanin 6							43.0	33.0	36.0					X																	99890723		2202	4292	6494	SO:0001589	frameshift_variant	7105				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chrX:99890723delA	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.108delT	X.37:g.99890723delA	ENSP00000362111:p.Leu36fs					TSPAN6_ENST00000496771.1_5'UTR	p.L36fs	NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN			2	219	-			36					Q54A42|Q6IAN9	Frame_Shift_Del	DEL	ENST00000373020.4	37	c.108delT	CCDS14470.1																																																																																				0.448	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1			2	4						2	4	---	---	---	---
