#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
GPR139	124274	broad.mit.edu	37	16	20043248	20043248	+	Missense_Mutation	SNP	G	G	A	rs556069972		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:20043248G>A	ENST00000570682.1	-	2	1171	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.R291W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGCGGAACCGCTTGCTGATG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19797	0.0		0.0	False		,,,				2504	0.001					ENST00000570682.1																			1	Substitution - Missense(1)	p.R291W(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(871-873)Cgg>Tgg		G protein-coupled receptor 139							108.0	107.0	107.0					16																	20043248		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043248G>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.871C>T	16.37:g.20043248G>A	ENSP00000458791:p.Arg291Trp						p.R291W	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1171	-			291					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.871C>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373073	0.61624	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	N	0.19112	0.55	0.58432	D	0.999996	D	0.89917	1.0	D	0.69654	0.965	T	0.64373	-0.6423	9	0.87932	D	0	-29.5547	13.4138	0.60958	0.0:0.0:0.5488:0.4512	.	291	Q6DWJ6	GP139_HUMAN	W	291	.	ENSP00000370779:R291W	R	-	1	2	GPR139	19950749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.409000	0.52657	0.623000	0.30267	0.655000	0.94253	CGG		0.502	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		56	65	0	0	0	1	0	56	65				
C1QTNF9B	387911	broad.mit.edu	37	13	24465957	24465957	+	Missense_Mutation	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:24465957C>A	ENST00000382140.2	-	5	533	c.473G>T	c.(472-474)gGa>gTa	p.G158V	C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Intron|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.G158V|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	158	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ACCAGGCTTTCCAATAGGGCC	0.627																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(472-474)gGa>gTa		C1q and tumor necrosis factor related protein 9B							28.0	38.0	35.0					13																	24465957		2201	4298	6499	SO:0001583	missense	387911					collagen		g.chr13:24465957C>A	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.473G>T	13.37:g.24465957C>A	ENSP00000371575:p.Gly158Val					C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G158V|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA	p.G158V	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	541	-			158			Collagen-like 3.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.473G>T	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	17.19	3.325600	0.60743	.	.	ENSG00000205863	ENST00000457983;ENST00000382137;ENST00000382140	D;D	0.99353	-5.77;-5.77	3.73	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98951	1.0794	10	0.87932	D	0	.	15.7876	0.78319	0.0:1.0:0.0:0.0	.	158	B2RNN3	C1T9B_HUMAN	V	29;158;158	ENSP00000371572:G158V;ENSP00000371575:G158V	ENSP00000371572:G158V	G	-	2	0	C1QTNF9B	23363957	1.000000	0.71417	0.998000	0.56505	0.498000	0.33706	7.026000	0.76455	1.950000	0.56595	0.456000	0.33151	GGA		0.627	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		12	38	1	0	2.80697e-09	1	2.87988e-09	12	38				
ZNF700	90592	broad.mit.edu	37	19	12059661	12059661	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:12059661G>A	ENST00000254321.5	+	4	965	c.822G>A	c.(820-822)ggG>ggA	p.G274G	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Silent_p.G256G|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTCACACTGGGGAGAAGCCCT	0.368																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(766-768)ggG>ggA		zinc finger protein 700							45.0	44.0	44.0					19																	12059661		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059661G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.822G>A	19.37:g.12059661G>A						ZNF700_ENST00000254321.5_Silent_p.G274G|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	p.G256G			Q9H0M5	ZN700_HUMAN			3	1186	+			274					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.768G>A	CCDS32915.1																																																																																				0.368	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		20	50	0	0	0	1	0	20	50				
KCNH1	3756	broad.mit.edu	37	1	211307260	211307260	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:211307260G>A	ENST00000271751.4	-	1	55	c.28C>T	c.(28-30)Cta>Tta	p.L10L	KCNH1-IT1_ENST00000438597.1_RNA|KCNH1_ENST00000367007.4_Silent_p.L10L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	10					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGGCCACTAGTCCCCTCCTG	0.607											OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(28-30)Cta>Tta		potassium voltage-gated channel, subfamily H (eag-related), member 1							81.0	88.0	86.0					1																	211307260		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211307260G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.28C>T	1.37:g.211307260G>A			OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2197	KCNH1_ENST00000271751.4_Silent_p.L10L	p.L10L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	1	197	-			10					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.28C>T	CCDS1496.1																																																																																				0.607	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		30	52	0	0	0	1	0	30	52				
PIK3CA	5290	broad.mit.edu	37	3	178947827	178947827	+	Missense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr3:178947827G>T	ENST00000263967.3	+	19	2859	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	901	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C901F(7)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACACGTTCATGTGCTGGATAC	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		7	Substitution - Missense(7)	p.C901F(7)	endometrium(4)|large_intestine(2)|stomach(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(2701-2703)tGt>tTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							220.0	207.0	211.0					3																	178947827		1906	4131	6037	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178947827G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2702G>T	3.37:g.178947827G>T	ENSP00000263967:p.Cys901Phe	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C901F	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		19	2859	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		901			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2702G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506649	0.85282	.	.	ENSG00000121879	ENST00000263967	T	0.76060	-0.99	5.61	5.61	0.85477	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.090376	0.85682	D	0.000000	D	0.90051	0.6893	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91894	0.5526	10	0.87932	D	0	-11.1303	19.6363	0.95735	0.0:0.0:1.0:0.0	.	901	P42336	PK3CA_HUMAN	F	901	ENSP00000263967:C901F	ENSP00000263967:C901F	C	+	2	0	PIK3CA	180430521	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	9.367000	0.97148	2.648000	0.89879	0.585000	0.79938	TGT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			83	112	1	0	9.90312e-32	1	1.07171e-31	83	112				
GLUD2	2747	broad.mit.edu	37	X	120181769	120181769	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:120181769C>T	ENST00000328078.1	+	1	308	c.231C>T	c.(229-231)ggC>ggT	p.G77G		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	77					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.G77G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TCGATCGCGGCGCCAGCATCG	0.642																																						ENST00000328078.1																			1	Substitution - coding silent(1)	p.G77G(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(229-231)ggC>ggT		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						87.0	73.0	78.0					X																	120181769		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181769C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.231C>T	X.37:g.120181769C>T							p.G77G	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	308	+			77					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.231C>T	CCDS14603.1																																																																																				0.642	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		46	50	0	0	0	1	0	46	50				
SEC16A	9919	broad.mit.edu	37	9	139371999	139371999	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr9:139371999G>A	ENST00000313050.7	-	1	142	c.69C>T	c.(67-69)agC>agT	p.S23S	SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCAGAACACGCTCCGAGGAT	0.597																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(67-69)agC>agT		SEC16 homolog A (S. cerevisiae)							20.0	20.0	20.0					9																	139371999		1893	4089	5982	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371999G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.69C>T	9.37:g.139371999G>A							p.S23S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	142	-		Myeloproliferative disorder(178;0.0511)	1999					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000313050.7	37	c.69C>T	CCDS55351.1																																																																																				0.597	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		12	23	0	0	0	1	0	12	23				
OPRK1	4986	broad.mit.edu	37	8	54142151	54142151	+	Silent	SNP	G	G	A	rs201485656		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr8:54142151G>A	ENST00000265572.3	-	4	1146	c.849C>T	c.(847-849)ttC>ttT	p.F283F	OPRK1_ENST00000520287.1_Silent_p.F283F|OPRK1_ENST00000524278.1_Silent_p.F194F|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	283					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGCAGACGACGAAGACTGCCA	0.577																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(847-849)ttC>ttT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	G		0,4406		0,0,2203	72.0	75.0	74.0		849	-1.6	0.0	8		74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OPRK1	NM_000912.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		283/381	54142151	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142151G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.849C>T	8.37:g.54142151G>A						OPRK1_ENST00000524278.1_Silent_p.F194F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.F283F	p.F283F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	1146	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	283					E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.849C>T	CCDS6152.1																																																																																				0.577	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			20	18	0	0	0	1	0	20	18				
TCEB3B	51224	broad.mit.edu	37	18	44561077	44561077	+	Missense_Mutation	SNP	C	C	T	rs149522210		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr18:44561077C>T	ENST00000332567.4	-	1	911	c.559G>A	c.(559-561)Gct>Act	p.A187T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	187					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGGGCGCAGCGGGCTCAGGG	0.692																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(559-561)Gct>Act		transcription elongation factor B polypeptide 3B (elongin A2)		C	THR/ALA,	0,4368		0,0,2184	25.0	30.0	28.0		559,	-1.5	0.0	18	dbSNP_134	28	2,8558		0,2,4278	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	58,	0,2,6462	TT,TC,CC		0.0234,0.0,0.0155	possibly-damaging,	187/754,	44561077	2,12926	2184	4280	6464	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561077C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.559G>A	18.37:g.44561077C>T	ENSP00000331302:p.Ala187Thr					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A187T	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	911	-			187					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.559G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	2.704	-0.270262	0.05716	0.0	2.34E-4	ENSG00000206181	ENST00000332567	T	0.06687	3.27	1.35	-1.55	0.08558	.	2.801650	0.02300	N	0.071111	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	P	0.36733	0.567	B	0.22753	0.041	T	0.34527	-0.9825	10	0.16896	T	0.51	0.2097	4.5325	0.12011	0.0:0.5059:0.0:0.4941	.	187	Q8IYF1	ELOA2_HUMAN	T	187	ENSP00000331302:A187T	ENSP00000331302:A187T	A	-	1	0	TCEB3B	42815075	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.651000	0.05372	-0.455000	0.07054	-0.498000	0.04607	GCT		0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		25	31	0	0	0	1	0	25	31				
TMEM143	55260	broad.mit.edu	37	19	48863392	48863392	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:48863392C>T	ENST00000293261.3	-	3	622	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM143_ENST00000436660.2_Silent_p.A102A|TMEM143_ENST00000598012.1_5'Flank|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000377431.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	102					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGGCCGAGAACGCCTCCAAAG	0.592																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(304-306)gcG>gcA		transmembrane protein 143							93.0	87.0	89.0					19																	48863392		2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48863392C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.306G>A	19.37:g.48863392C>T						TMEM143_ENST00000436660.2_Silent_p.A102A|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000541566.1_Intron	p.A102A	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	3	622	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	102					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.306G>A	CCDS12716.1																																																																																				0.592	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		19	43	0	0	0	1	0	19	43				
RBM47	54502	broad.mit.edu	37	4	40440525	40440525	+	Missense_Mutation	SNP	C	C	T	rs373211767		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:40440525C>T	ENST00000381793.2	-	3	782	c.386G>A	c.(385-387)cGt>cAt	p.R129H	RBM47_ENST00000319592.4_Missense_Mutation_p.R129H|RBM47_ENST00000295971.7_Missense_Mutation_p.R129H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R129H|RBM47_ENST00000514014.1_Missense_Mutation_p.R91H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTTGAGCTCACGCACTGCGCG	0.627																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(385-387)cGt>cAt		RNA binding motif protein 47		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	58.0	49.0	52.0		386,386	4.6	1.0	4		52	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RBM47	NM_001098634.1,NM_019027.3	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	129/594,129/525	40440525	2,13004	2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440525C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.386G>A	4.37:g.40440525C>T	ENSP00000371212:p.Arg129His					RBM47_ENST00000295971.7_Missense_Mutation_p.R129H|RBM47_ENST00000381795.6_Missense_Mutation_p.R129H|RBM47_ENST00000514014.1_Missense_Mutation_p.R91H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.R129H	p.R129H			A0AV96	RBM47_HUMAN			4	1095	-			129			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.386G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500685	0.64298	0.0	2.33E-4	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.44	4.58	0.56647	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.48877	1.53	0.58432	D	0.999999	D;P	0.76494	0.999;0.819	P;P	0.61592	0.891;0.652	T	0.01136	-1.1440	10	0.87932	D	0	-17.4793	11.9114	0.52741	0.0:0.8615:0.0:0.1385	.	129;129	A0AV96-2;A0AV96	.;RBM47_HUMAN	H	129;129;129;129;91;129;129;129;129	ENSP00000320108:R129H;ENSP00000371212:R129H;ENSP00000371214:R129H;ENSP00000295971:R129H;ENSP00000423243:R91H;ENSP00000422564:R129H;ENSP00000421589:R129H;ENSP00000423527:R129H;ENSP00000426542:R129H	ENSP00000295971:R129H	R	-	2	0	RBM47	40135282	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	4.086000	0.57664	2.554000	0.86153	0.313000	0.20887	CGT		0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		33	37	0	0	0	1	0	33	37				
EGFR	1956	broad.mit.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241677G>A	ENST00000275493.2	+	18	2302	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E664K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|E -> G (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15623594}.|E -> K (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATCTTGAAGGAAACTGAATT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		20	Substitution - Missense(19)|Deletion - Frameshift(1)	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)	lung(15)|upper_aerodigestive_tract(2)|prostate(2)|ovary(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2125-2127)Gaa>Aaa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						88.0	91.0	90.0					7																	55241677		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241677G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2125G>A	7.37:g.55241677G>A	ENSP00000275493:p.Glu709Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000455089.1_Missense_Mutation_p.E664K	p.E709K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2302	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		709		E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2125G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304179	0.95601	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61859	0.07;0.07;0.07	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.71581	2.175	0.80722	D	1	P;P	0.49862	0.929;0.912	B;P	0.46172	0.283;0.506	T	0.70454	-0.4867	10	0.87932	D	0	.	18.672	0.91514	0.0:0.0:1.0:0.0	.	664;709	Q504U8;P00533	.;EGFR_HUMAN	K	664;579;709;656	ENSP00000415559:E664K;ENSP00000275493:E709K;ENSP00000395243:E656K	ENSP00000275493:E709K	E	+	1	0	EGFR	55209171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.833000	0.99426	2.745000	0.94114	0.563000	0.77884	GAA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		546	2133	0	0	0	1	0	546	2133				
PDZD4	57595	broad.mit.edu	37	X	153069356	153069356	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153069356C>T	ENST00000164640.4	-	8	1953	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A479T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A513T|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	588						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGTCGGGGCCAGCTGCACG	0.756																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1762-1764)Gcc>Acc		PDZ domain containing 4							6.0	6.0	6.0					X																	153069356		1973	3866	5839	SO:0001583	missense	57595					cell cortex		g.chrX:153069356C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1762G>A	X.37:g.153069356C>T	ENSP00000164640:p.Ala588Thr					PDZD4_ENST00000544474.1_Missense_Mutation_p.A479T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A513T	p.A588T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	1953	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		588					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1762G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	6.933	0.541829	0.13250	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.48201	0.82;0.82;0.82	5.67	1.59	0.23543	.	0.391026	0.27262	N	0.020171	T	0.32734	0.0839	L	0.36672	1.1	0.24879	N	0.992235	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.23655	-1.0182	10	0.56958	D	0.05	-15.4305	6.1182	0.20137	0.2654:0.5771:0.0:0.1575	.	479;594;588;513;492	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	T	588;513;492;479	ENSP00000164640:A588T;ENSP00000377355:A513T;ENSP00000442033:A479T	ENSP00000164640:A588T	A	-	1	0	PDZD4	152722550	0.348000	0.24861	0.459000	0.27081	0.123000	0.20343	-0.293000	0.08320	0.508000	0.28173	0.529000	0.55759	GCC		0.756	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		4	8	0	0	0	1	0	4	8				
SLFN12L	100506736	broad.mit.edu	37	17	33802177	33802177	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:33802177C>T	ENST00000260908.7	-	4	1649	c.1532G>A	c.(1531-1533)tGt>tAt	p.C511Y	SLFN12L_ENST00000361112.4_Missense_Mutation_p.C540Y|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.C542Y	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	511						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TGTCATGACACACACTTTTTT	0.393																																						ENST00000260908.7																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(1531-1533)tGt>tAt		schlafen family member 12-like							233.0	176.0	193.0					17																	33802177		692	1591	2283	SO:0001583	missense	100506736					integral to membrane	ATP binding	g.chr17:33802177C>T	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1532G>A	17.37:g.33802177C>T	ENSP00000437635:p.Cys511Tyr					SLFN12L_ENST00000361112.4_Missense_Mutation_p.C540Y|SLFN12L_ENST00000449046.1_Missense_Mutation_p.C542Y	p.C511Y	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN			4	1649	-			543					F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.1532G>A	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.266159	0.40095	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.08546	3.11;3.23;3.08	2.37	0.038	0.14199	.	.	.	.	.	T	0.09512	0.0234	M	0.82517	2.595	0.09310	N	1	P	0.47484	0.896	B	0.35813	0.211	T	0.25222	-1.0138	9	0.87932	D	0	.	2.7694	0.05329	0.2739:0.5545:0.0:0.1717	.	540	Q6IEE8-2	.	Y	511;540;542	ENSP00000437635:C511Y;ENSP00000354412:C540Y;ENSP00000389348:C542Y	ENSP00000437635:C511Y	C	-	2	0	SLFN12L	30826290	0.045000	0.20229	0.000000	0.03702	0.543000	0.35085	1.570000	0.36439	-0.091000	0.12440	0.195000	0.17529	TGT		0.393	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		34	54	0	0	0	1	0	34	54				
TRIML1	339976	broad.mit.edu	37	4	189068385	189068385	+	Silent	SNP	C	C	T	rs145647080		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:189068385C>T	ENST00000332517.3	+	6	1406	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	422	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CATTCTACAACGGGACGGATG	0.517													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18123	0.0		0.0	False		,,,				2504	0.0				Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1264-1266)aaC>aaT		tripartite motif family-like 1		C		3,4403	6.2+/-15.9	0,3,2200	141.0	127.0	132.0		1266	-5.8	0.3	4	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIML1	NM_178556.3		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		422/469	189068385	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068385C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1266C>T	4.37:g.189068385C>T						TRIML1_ENST00000507581.1_3'UTR	p.N422N	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1406	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	422			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1266C>T	CCDS3851.1																																																																																				0.517	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		60	61	0	0	0	1	0	60	61				
PTPRC	5788	broad.mit.edu	37	1	198676002	198676002	+	Silent	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:198676002A>G	ENST00000367376.2	+	9	990	c.819A>G	c.(817-819)gaA>gaG	p.E273E	PTPRC_ENST00000442510.2_Silent_p.E275E|PTPRC_ENST00000352140.3_Silent_p.E225E|PTPRC_ENST00000348564.6_Silent_p.E114E|PTPRC_ENST00000594404.1_Silent_p.E112E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCTTACAGAATGTAAAAATG	0.318																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(817-819)gaA>gaG		protein tyrosine phosphatase, receptor type, C							151.0	155.0	154.0					1																	198676002		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198676002A>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.819A>G	1.37:g.198676002A>G						PTPRC_ENST00000348564.6_Silent_p.E114E|PTPRC_ENST00000442510.2_Silent_p.E275E|PTPRC_ENST00000352140.3_Silent_p.E225E|PTPRC_ENST00000594404.1_Silent_p.E112E	p.E273E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			9	990	+			273					A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.819A>G																																																																																					0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				54	93	0	0	0	1	0	54	93				
L3MBTL2	83746	broad.mit.edu	37	22	41621067	41621067	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:41621067G>A	ENST00000216237.5	+	11	1506	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	450					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTGGCAACTGTCTGTAAGGT	0.602																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1348-1350)Gtc>Atc		l(3)mbt-like 2 (Drosophila)							121.0	115.0	117.0					22																	41621067		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621067G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1348G>A	22.37:g.41621067G>A	ENSP00000216237:p.Val450Ile						p.V450I	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			11	1506	+			450					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1348G>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528089	0.27299	.	.	ENSG00000100395	ENST00000216237	T	0.50277	0.75	5.52	2.0	0.26442	.	0.153045	0.64402	N	0.000019	T	0.37100	0.0991	L	0.60012	1.86	0.43555	D	0.995864	B;B	0.09022	0.002;0.001	B;B	0.15052	0.004;0.012	T	0.11084	-1.0602	10	0.14252	T	0.57	.	7.4076	0.27000	0.5075:0.0:0.4925:0.0	.	450;450	Q969R5-3;Q969R5	.;LMBL2_HUMAN	I	450	ENSP00000216237:V450I	ENSP00000216237:V450I	V	+	1	0	L3MBTL2	39951013	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.366000	0.52343	0.405000	0.25532	-0.367000	0.07326	GTC		0.602	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		20	29	0	0	0	1	0	20	29				
DDX19A	55308	broad.mit.edu	37	16	70404224	70404224	+	Silent	SNP	G	G	A	rs189321243	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:70404224G>A	ENST00000302243.7	+	10	1282	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	DDX19A_ENST00000417604.2_Silent_p.A342A|DDX19A_ENST00000443119.2_Silent_p.A283A	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	373	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGAGGGCTGCGGTGATTGAGC	0.597													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16152	0.0		0.001	False		,,,				2504	0.0					ENST00000302243.7																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11						c.(1117-1119)gcG>gcA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A							149.0	126.0	134.0					16																	70404224		2198	4300	6498	SO:0001819	synonymous_variant	55308							g.chr16:70404224G>A	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1119G>A	16.37:g.70404224G>A						DDX19A_ENST00000443119.2_Silent_p.A283A|DDX19A_ENST00000417604.2_Silent_p.A342A	p.A373A	NM_018332.3	NP_060802.1					10	1282	+		Ovarian(137;0.221)						B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	c.1119G>A	CCDS10889.1																																																																																				0.597	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		13	26	0	0	0	1	0	13	26				
TTN	7273	broad.mit.edu	37	2	179473345	179473345	+	Missense_Mutation	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179473345T>C	ENST00000591111.1	-	224	47694	c.47470A>G	c.(47470-47472)Aaa>Gaa	p.K15824E	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K17465E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8592E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14897E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8525E|TTN_ENST00000460472.2_Missense_Mutation_p.K8400E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15824	Fibronectin type-III 14. {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)			AATGGATCTTTAGCCACAAGT	0.363																																						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.(52393-52395)Aaa>Gaa		titin							52.0	51.0	51.0					2																	179473345		1855	4098	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179473345T>C	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.47470A>G	2.37:g.179473345T>C	ENSP00000465570:p.Lys15824Glu					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8525E|TTN_ENST00000591111.1_Missense_Mutation_p.K15824E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14897E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8592E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8400E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.K17465E	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)		274	52617	-			15824			Ig-like 103.		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.52393A>G		.	.	.	.	.	.	.	.	.	.	T	12.94	2.089404	0.36855	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.72	5.72	0.89469	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59059	0.2166	L	0.49513	1.565	0.51767	D	0.99993	D;D;D;D	0.58268	0.982;0.982;0.982;0.982	P;P;P;P	0.51266	0.591;0.591;0.591;0.664	T	0.63492	-0.6625	9	0.87932	D	0	.	15.9966	0.80256	0.0:0.0:0.0:1.0	.	8400;8525;8592;15824	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	14897;8400;8592;8525;8400	ENSP00000343764:K14897E;ENSP00000434586:K8400E;ENSP00000340554:K8592E;ENSP00000352154:K8525E	ENSP00000340554:K8592E	K	-	1	0	TTN	179181590	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.179000	0.69175	0.460000	0.39030	AAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	13	0	0	0	1	0	8	13				
PLXNA4	91584	broad.mit.edu	37	7	131844257	131844257	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:131844257C>T	ENST00000359827.3	-	25	5597	c.4635G>A	c.(4633-4635)cgG>cgA	p.R1545R	PLXNA4_ENST00000321063.4_Silent_p.R1545R			Q9HCM2	PLXA4_HUMAN	plexin A4	1545					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGCTTTGGGCCGGTGGGAGC	0.557																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4633-4635)cgG>cgA		plexin A4							190.0	205.0	200.0					7																	131844257		2196	4300	6496	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131844257C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4635G>A	7.37:g.131844257C>T						PLXNA4_ENST00000321063.4_Silent_p.R1545R	p.R1545R			Q9HCM2	PLXA4_HUMAN			25	5597	-			1545					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.4635G>A	CCDS43646.1																																																																																				0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		5	307	0	0	0	1	0	5	307				
DMD	1756	broad.mit.edu	37	X	32834682	32834682	+	Nonsense_Mutation	SNP	G	G	A	rs128626235		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:32834682G>A	ENST00000357033.4	-	6	639	c.433C>T	c.(433-435)Cga>Tga	p.R145*	DMD_ENST00000288447.4_Nonsense_Mutation_p.R137*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R141*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	145	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGATTGTCGGACCCAGCTC	0.393																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77	GRCh37	CD951679|CM940337	DMD	D|M	rs128626235	c.(433-435)Cga>Tga		dystrophin							173.0	149.0	157.0					X																	32834682		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32834682G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.433C>T	X.37:g.32834682G>A	ENSP00000354923:p.Arg145*					DMD_ENST00000288447.4_Nonsense_Mutation_p.R137*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R141*	p.R145*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			6	639	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	145			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.433C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	42	9.514657	0.99192	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.51	4.63	0.57726	.	0.000000	0.32015	U	0.006714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3887	0.74726	0.0:0.1361:0.8639:0.0	.	.	.	.	X	137;141;145;145;22;137	.	ENSP00000288447:R137X	R	-	1	2	DMD	32744603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	1.066000	0.40716	0.600000	0.82982	CGA		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		50	80	0	0	0	1	0	50	80				
TMEM132D	121256	broad.mit.edu	37	12	130184803	130184803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:130184803G>A	ENST00000422113.2	-	2	846	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	174					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGGTCTCTCGGAAAGCAAAG	0.682																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(520-522)Cga>Tga		transmembrane protein 132D							17.0	19.0	18.0					12																	130184803		2200	4299	6499	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:130184803G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.520C>T	12.37:g.130184803G>A	ENSP00000408581:p.Arg174*						p.R174*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	846	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	174					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.520C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	40	8.381057	0.98786	.	.	ENSG00000151952	ENST00000422113	.	.	.	5.33	0.577	0.17385	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.175	15.9826	0.80125	0.0:0.0:0.5372:0.4628	.	.	.	.	X	174	.	.	R	-	1	2	TMEM132D	128750756	1.000000	0.71417	0.964000	0.40570	0.959000	0.62525	2.118000	0.41949	0.173000	0.19788	0.555000	0.69702	CGA		0.682	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		16	13	0	0	0	1	0	16	13				
TTN	7273	broad.mit.edu	37	2	179495965	179495965	+	Missense_Mutation	SNP	T	T	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179495965T>A	ENST00000591111.1	-	187	39111	c.38887A>T	c.(38887-38889)Att>Ttt	p.I12963F	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I14604F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5731F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I12036F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5664F|TTN_ENST00000460472.2_Missense_Mutation_p.I5539F			Q8WZ42	TITIN_HUMAN	titin	12963	Ig-like 86.				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)			CACTGTAGAATAACTTCATCT	0.353																																						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.(43810-43812)Att>Ttt		titin							85.0	77.0	79.0					2																	179495965		1848	4111	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179495965T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38887A>T	2.37:g.179495965T>A	ENSP00000465570:p.Ile12963Phe					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5664F|TTN_ENST00000591111.1_Missense_Mutation_p.I12963F|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I12036F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5731F|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5539F|TTN-AS1_ENST00000592630.1_RNA	p.I14604F	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)		237	44034	-			12963			Fibronectin type-III 5.		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.43810A>T		.	.	.	.	.	.	.	.	.	.	T	12.65	2.001158	0.35320	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.71	-6.67	0.01783	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41050	0.1142	L	0.58101	1.795	0.27810	N	0.942169	B;B;B;B	0.31274	0.317;0.317;0.317;0.317	B;B;B;B	0.36418	0.224;0.224;0.224;0.224	T	0.50398	-0.8833	9	0.87932	D	0	.	15.7021	0.77549	0.0:0.4828:0.0:0.5172	.	5539;5664;5731;12963	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	12036;5539;5731;5664;5539	ENSP00000343764:I12036F;ENSP00000434586:I5539F;ENSP00000340554:I5731F;ENSP00000352154:I5664F	ENSP00000340554:I5731F	I	-	1	0	TTN	179204210	0.001000	0.12720	0.900000	0.35374	0.963000	0.63663	-0.429000	0.06982	-1.142000	0.02869	-0.250000	0.11733	ATT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	26	0	0	0	1	0	16	26				
KRT19	3880	broad.mit.edu	37	17	39680190	39680190	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:39680190C>T	ENST00000361566.3	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A	KRT15_ENST00000393974.3_5'Flank|KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	336	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCTGGATATGCGCCAGCTGGG	0.592																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(1006-1008)gcG>gcA		keratin 19							41.0	42.0	42.0					17																	39680190		2203	4300	6503	SO:0001819	synonymous_variant	3880							g.chr17:39680190C>T		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.1008G>A	17.37:g.39680190C>T							p.A336A	NM_002276.4	NP_002267.2					6	1068	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	ENST00000361566.3	37	c.1008G>A	CCDS11399.1																																																																																				0.592	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		31	41	0	0	0	1	0	31	41				
PCDHGA3	56112	broad.mit.edu	37	5	140725296	140725296	+	Missense_Mutation	SNP	G	G	A	rs200275256		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:140725296G>A	ENST00000253812.6	+	1	1696	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	566					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667																																						ENST00000253812.6																			0				breast(1)	1						c.(1696-1698)Gcc>Acc									110.0	121.0	118.0					5																	140725296		2203	4298	6501	SO:0001583	missense	0							g.chr5:140725296G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1696G>A	5.37:g.140725296G>A	ENSP00000253812:p.Ala566Thr					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A566T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1696	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1696G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	0.849	-0.739321	0.03088	.	.	ENSG00000254245	ENST00000253812	T	0.47528	0.84	5.42	-10.8	0.00216	Cadherin-like (1);	0.603585	0.12181	N	0.492128	T	0.18718	0.0449	N	0.12746	0.255	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.15484	0.013;0.001	T	0.09662	-1.0664	10	0.17369	T	0.5	.	8.0393	0.30513	0.6802:0.0653:0.1374:0.1171	.	566;566	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	T	566	ENSP00000253812:A566T	ENSP00000253812:A566T	A	+	1	0	PCDHGA3	140705480	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-4.230000	0.00270	-2.723000	0.00388	-0.471000	0.05019	GCC		0.667	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		86	111	0	0	0	1	0	86	111				
EGFR	1956	broad.mit.edu	37	7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	rs121913428		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241708G>A	ENST00000275493.2	+	18	2333	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_ENST00000454757.2_Missense_Mutation_p.G666D|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G674D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|G -> C (found in a lung cancer sample; dbSNP:rs28929495). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|G -> D (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15118125, ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		32	Substitution - Missense(31)|Deletion - Frameshift(1)	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)	lung(30)|oesophagus(1)|central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2155-2157)gGc>gAc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68.0	70.0	69.0					7																	55241708		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241708G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2156G>A	7.37:g.55241708G>A	ENSP00000275493:p.Gly719Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G666D|EGFR_ENST00000455089.1_Missense_Mutation_p.G674D	p.G719D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2333	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		719		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).	Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2156G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639359	0.67244	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.78364	-1.17;-1.17;-1.17	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.92165	0.5739	10	0.87932	D	0	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	674;719	Q504U8;P00533	.;EGFR_HUMAN	D	674;589;719;666	ENSP00000415559:G674D;ENSP00000275493:G719D;ENSP00000395243:G666D	ENSP00000275493:G719D	G	+	2	0	EGFR	55209202	1.000000	0.71417	0.996000	0.52242	0.044000	0.14063	9.772000	0.98984	2.562000	0.86427	0.563000	0.77884	GGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		385	1641	0	0	0	1	0	385	1641				
HCFC1	3054	broad.mit.edu	37	X	153217982	153217982	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153217982G>A	ENST00000310441.7	-	19	5891	c.4925C>T	c.(4924-4926)gCg>gTg	p.A1642V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1573V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A1686V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1642					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGCTGCGCGGCCTGGAG	0.716																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(4924-4926)gCg>gTg		host cell factor C1 (VP16-accessory protein)							14.0	16.0	15.0					X																	153217982		1997	4111	6108	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153217982G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4925C>T	X.37:g.153217982G>A	ENSP00000309555:p.Ala1642Val					HCFC1_ENST00000369984.4_Missense_Mutation_p.A1686V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1573V	p.A1642V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			19	5891	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1642					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.4925C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105296	0.77096	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.11930	2.78;2.73;2.8	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	L	0.32530	0.975	0.49299	D	0.999775	D	0.76494	0.999	D	0.73380	0.98	T	0.01839	-1.1263	10	0.87932	D	0	.	17.16	0.86801	0.0:0.0:1.0:0.0	.	1642	P51610	HCFC1_HUMAN	V	1642;1686;1573	ENSP00000309555:A1642V;ENSP00000359001:A1686V;ENSP00000346174:A1573V	ENSP00000309555:A1642V	A	-	2	0	HCFC1	152871176	1.000000	0.71417	0.075000	0.20258	0.358000	0.29455	8.466000	0.90387	2.317000	0.78254	0.513000	0.50165	GCG		0.716	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		16	16	0	0	0	1	0	16	16				
RBM25	58517	broad.mit.edu	37	14	73577739	73577739	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr14:73577739C>T	ENST00000261973.7	+	15	2178	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	RBM25_ENST00000527432.1_Silent_p.G631G|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	631	Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGCCAGTGGCAATGCAACAC	0.498																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1891-1893)ggC>ggT		RNA binding motif protein 25							98.0	85.0	90.0					14																	73577739		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73577739C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1893C>T	14.37:g.73577739C>T						RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.G631G	p.G631G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	15	2178	+			631			Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.1893C>T	CCDS32113.1																																																																																				0.498	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		4	31	0	0	0	1	0	4	31				
TKTL2	84076	broad.mit.edu	37	4	164394265	164394265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:164394265C>A	ENST00000280605.3	-	1	782	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	208						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAAAGGCTTCACAGCAATTC	0.517																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(622-624)Gaa>Taa		transketolase-like 2							74.0	74.0	74.0					4																	164394265		2203	4300	6503	SO:0001587	stop_gained	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394265C>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.622G>T	4.37:g.164394265C>A	ENSP00000280605:p.Glu208*						p.E208*	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	782	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	208					A4FVB4|Q8NCT0|Q96M82	Nonsense_Mutation	SNP	ENST00000280605.3	37	c.622G>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587060	0.66105	.	.	ENSG00000151005	ENST00000280605	.	.	.	4.03	3.16	0.36331	.	0.063989	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.2249	11.673	0.51413	0.0:0.8106:0.1894:0.0	.	.	.	.	X	208	.	ENSP00000280605:E208X	E	-	1	0	TKTL2	164613715	1.000000	0.71417	0.041000	0.18516	0.015000	0.08874	4.555000	0.60767	1.229000	0.43630	0.655000	0.94253	GAA		0.517	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		36	66	1	0	1.69901e-12	1	1.78963e-12	36	66				
GRIN2A	2903	broad.mit.edu	37	16	9857178	9857178	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:9857178G>A	ENST00000396573.2	-	14	4532	c.4223C>T	c.(4222-4224)aCg>aTg	p.T1408M	GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1408M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1408M|GRIN2A_ENST00000404927.2_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1408					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTACGATGCCGTTGACCTCAA	0.493																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4222-4224)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						112.0	96.0	102.0					16																	9857178		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857178G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4223C>T	16.37:g.9857178G>A	ENSP00000379818:p.Thr1408Met					GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1408M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1408M	p.T1408M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4532	-			1408					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4223C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032396	0.75504	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.12569	2.67;2.67;2.67	5.79	5.79	0.91817	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.045781	0.85682	D	0.000000	T	0.38241	0.1033	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01266	-1.1401	9	.	.	.	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	1408	Q12879	NMDE1_HUMAN	M	1408	ENSP00000379818:T1408M;ENSP00000332549:T1408M;ENSP00000379820:T1408M	.	T	-	2	0	GRIN2A	9764679	1.000000	0.71417	0.980000	0.43619	0.999000	0.98932	7.520000	0.81821	2.733000	0.93635	0.655000	0.94253	ACG		0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			24	38	0	0	0	1	0	24	38				
IBSP	3381	broad.mit.edu	37	4	88732645	88732645	+	Silent	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:88732645C>A	ENST00000226284.5	+	7	604	c.537C>A	c.(535-537)acC>acA	p.T179T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	179					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAAACGGCACCAGTACCAACA	0.483																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(535-537)acC>acA		integrin-binding sialoprotein							168.0	149.0	156.0					4																	88732645		2203	4300	6503	SO:0001819	synonymous_variant	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732645C>A		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.537C>A	4.37:g.88732645C>A							p.T179T	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	604	+		Hepatocellular(203;0.114)	179						Silent	SNP	ENST00000226284.5	37	c.537C>A	CCDS3624.1																																																																																				0.483	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			17	17	1	0	0.000566183	1	0.000573442	17	17				
OR51E2	81285	broad.mit.edu	37	11	4703280	4703280	+	Missense_Mutation	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:4703280A>G	ENST00000396950.3	-	2	901	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	221					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCGTTCGTATTATCAGAAA	0.488																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(661-663)aTa>aCa		olfactory receptor, family 51, subfamily E, member 2							96.0	85.0	88.0					11																	4703280		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703280A>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.662T>C	11.37:g.4703280A>G	ENSP00000380153:p.Ile221Thr						p.I221T	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	901	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	221					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.662T>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808393	0.50421	.	.	ENSG00000167332	ENST00000396950	T	0.00198	8.57	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000071	T	0.00412	0.0013	M	0.79805	2.47	0.09310	N	1	P	0.52316	0.952	P	0.55824	0.785	T	0.39396	-0.9616	10	0.87932	D	0	.	8.3095	0.32062	0.9112:0.0:0.0888:0.0	.	221	Q9H255	O51E2_HUMAN	T	221	ENSP00000380153:I221T	ENSP00000380153:I221T	I	-	2	0	OR51E2	4659856	0.976000	0.34144	0.224000	0.23877	0.825000	0.46686	7.864000	0.87037	2.092000	0.63282	0.533000	0.62120	ATA		0.488	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		18	37	0	0	0	1	0	18	37				
ELF1	1997	broad.mit.edu	37	13	41517272	41517272	+	Missense_Mutation	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:41517272T>C	ENST00000239882.3	-	7	936	c.622A>G	c.(622-624)Att>Gtt	p.I208V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.I184V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	208					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAAGATAAATTGTGTTTCCT	0.343																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(622-624)Att>Gtt		E74-like factor 1 (ets domain transcription factor)							48.0	48.0	48.0					13																	41517272		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41517272T>C	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.622A>G	13.37:g.41517272T>C	ENSP00000239882:p.Ile208Val					ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.I184V	p.I208V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	7	936	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	208					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.622A>G	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233895	0.79688	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.23348	1.91;1.91	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.061011	0.64402	D	0.000002	T	0.42154	0.1190	L	0.41632	1.29	0.49130	D	0.999751	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.969	T	0.16512	-1.0400	10	0.45353	T	0.12	.	15.8816	0.79208	0.0:0.0:0.0:1.0	.	184;208	E9PDQ9;P32519	.;ELF1_HUMAN	V	184;208	ENSP00000405580:I184V;ENSP00000239882:I208V	ENSP00000239882:I208V	I	-	1	0	ELF1	40415272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.857000	0.69525	2.150000	0.67090	0.533000	0.62120	ATT		0.343	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		28	35	0	0	0	1	0	28	35				
PSG9	5678	broad.mit.edu	37	19	43773549	43773549	+	Missense_Mutation	SNP	C	C	T	rs142118461	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:43773549C>T	ENST00000270077.3	-	1	131	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG9_ENST00000418820.2_Missense_Mutation_p.R12H|PSG9_ENST00000244293.7_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	12					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R12H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCAGGTGATGCGCTGTGTGCA	0.622													T|||	2	0.000399361	0.0	0.0	5008	,	,		16625	0.0		0.0	False		,,,				2504	0.002					ENST00000244293.7																			1	Substitution - Missense(1)	p.R12H(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(34-36)cGc>cAc		pregnancy specific beta-1-glycoprotein 9		T	HIS/ARG	2,4404		0,2,2201	106.0	102.0	103.0		35	-4.3	0.0	19	dbSNP_134	103	3,8597		0,3,4297	no	missense	PSG9	NM_002784.3	29	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	benign	12/427	43773549	5,13001	2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43773549C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.35G>A	19.37:g.43773549C>T	ENSP00000270077:p.Arg12His					PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H	p.R12H			Q00887	PSG9_HUMAN			1	101	-		Prostate(69;0.00682)	12					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.35G>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	a	0.651	-0.809417	0.02798	4.54E-4	3.49E-4	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.45276	0.9;2.43;2.72;1.73	2.17	-4.34	0.03666	.	.	.	.	.	T	0.13329	0.0323	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.15141	0.012;0.003;0.006;0.0;0.001	B;B;B;B;B	0.10450	0.002;0.002;0.005;0.002;0.001	T	0.04255	-1.0965	9	0.19147	T	0.46	.	1.5305	0.02534	0.1396:0.2816:0.1389:0.4399	.	12;12;12;12;12	E7EW65;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;PSG9_HUMAN	H	12	ENSP00000270077:R12H;ENSP00000291752:R12H;ENSP00000396753:R12H;ENSP00000244293:R12H	ENSP00000244293:R12H	R	-	2	0	PSG9	48465389	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.074000	0.00154	-3.895000	0.00094	-3.946000	0.00015	CGC		0.622	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		5	224	0	0	0	1	0	5	224				
SLC9A7	84679	broad.mit.edu	37	X	46466458	46466458	+	Missense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:46466458G>T	ENST00000328306.4	-	17	2132	c.2107C>A	c.(2107-2109)Ctg>Atg	p.L703M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	703					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCCATTCCCAGGTCTCGCTCC	0.612																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(2107-2109)Ctg>Atg		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							67.0	56.0	60.0					X																	46466458		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46466458G>T	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.2107C>A	X.37:g.46466458G>T	ENSP00000330320:p.Leu703Met					SLC9A7_ENST00000464933.1_5'UTR	p.L703M	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			17	2132	-			703					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.2107C>A	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451428	0.63290	.	.	ENSG00000065923	ENST00000328306	T	0.32515	1.45	4.81	4.81	0.61882	.	0.076423	0.53938	D	0.000046	T	0.42359	0.1199	M	0.78456	2.415	0.46521	D	0.999083	D	0.60160	0.987	P	0.49140	0.601	T	0.46020	-0.9221	10	0.59425	D	0.04	.	11.2143	0.48817	0.0992:0.0:0.9008:0.0	.	703	Q96T83	SL9A7_HUMAN	M	703	ENSP00000330320:L703M	ENSP00000330320:L703M	L	-	1	2	SLC9A7	46351402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.748000	0.55142	2.373000	0.80994	0.596000	0.82720	CTG		0.612	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		22	20	1	0	9.57634e-11	1	9.95435e-11	22	20				
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		23	Substitution - Missense(23)	p.A289V(20)|p.A289D(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V	p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1043	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		25	1388	0	0	0	1	0	25	1388				
FST	10468	broad.mit.edu	37	5	52779405	52779405	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:52779405G>A	ENST00000256759.3	+	3	732	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	FST_ENST00000396947.3_Missense_Mutation_p.V117I	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	117	Follistatin-like 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACCCCGCTGCGTCTGCGCCCC	0.507																																						ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(349-351)Gtc>Atc		follistatin							74.0	72.0	73.0					5																	52779405		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52779405G>A	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.349G>A	5.37:g.52779405G>A	ENSP00000256759:p.Val117Ile					FST_ENST00000256759.3_Missense_Mutation_p.V117I	p.V117I	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			3	515	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	117			Follistatin-like 1.|Kazal-like 1.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.349G>A	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204133	0.95033	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947	T;T	0.64085	-0.08;-0.08	5.76	4.89	0.63831	Proteinase inhibitor I1, Kazal (1);Follistatin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.66506	2.035	0.80722	D	1	P	0.42785	0.79	B	0.38327	0.271	T	0.63363	-0.6654	10	0.41790	T	0.15	-23.1605	14.9904	0.71384	0.0685:0.0:0.9314:0.0	.	117	P19883	FST_HUMAN	I	117	ENSP00000256759:V117I;ENSP00000380151:V117I	ENSP00000256759:V117I	V	+	1	0	FST	52815162	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.869000	0.99810	1.440000	0.47531	0.491000	0.48974	GTC		0.507	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		10	41	0	0	0	1	0	10	41				
ARHGAP4	393	broad.mit.edu	37	X	153173283	153173283	+	Missense_Mutation	SNP	C	C	T	rs34514067		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153173283C>T	ENST00000350060.5	-	22	2782	c.2741G>A	c.(2740-2742)cGc>cAc	p.R914H	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R893H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R891H|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R954H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R736H|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	914					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCCAGGCGGCTGCTGGG	0.687													C|||	2	0.000529801	0.0	0.0	3775	,	,		10299	0.002		0.0	False		,,,				2504	0.0					ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2860-2862)cGc>cAc		Rho GTPase activating protein 4							22.0	28.0	26.0					X																	153173283		2193	4281	6474	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153173283C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2741G>A	X.37:g.153173283C>T	ENSP00000203786:p.Arg914His					ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R914H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R893H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R891H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R736H	p.R954H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			23	2918	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		914					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.2861G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	c	12.70	2.015262	0.35511	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.11712	2.76;2.76;2.77;2.75;2.77	4.77	2.94	0.34122	.	0.460095	0.15565	N	0.255736	T	0.06096	0.0158	L	0.27053	0.805	0.09310	N	1	P;B	0.35793	0.521;0.349	B;B	0.28916	0.096;0.096	T	0.34825	-0.9813	10	0.39692	T	0.17	.	4.4534	0.11631	0.1563:0.6042:0.1493:0.0902	rs34514067	954;914	Q86UY3;P98171	.;RHG04_HUMAN	H	736;954;914;893;891	ENSP00000377322:R736H;ENSP00000359045:R954H;ENSP00000203786:R914H;ENSP00000359033:R893H;ENSP00000444169:R891H	ENSP00000203786:R914H	R	-	2	0	ARHGAP4	152826477	0.221000	0.23642	0.000000	0.03702	0.057000	0.15508	1.154000	0.31688	0.270000	0.21984	-0.373000	0.07131	CGC		0.687	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		35	19	0	0	0	1	0	35	19				
ERCC2	2068	broad.mit.edu	37	19	45858101	45858101	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:45858101G>A	ENST00000391945.4	-	17	1629	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	ERCC2_ENST00000391944.3_Missense_Mutation_p.R440W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	518	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCATAGTTCCGGATCACAGCT	0.587			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1552-1554)Cgg>Tgg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							140.0	128.0	132.0					19																	45858101		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45858101G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1552C>T	19.37:g.45858101G>A	ENSP00000375809:p.Arg518Trp					ERCC2_ENST00000391944.3_Missense_Mutation_p.R440W	p.R518W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	17	1629	-		Ovarian(192;0.0728)|all_neural(266;0.112)	518			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1552C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835878	0.71373	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.83755	-1.54;-1.76	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.949;0.988	D	0.94005	0.7279	10	0.87932	D	0	-32.5782	11.6271	0.51151	0.0:0.0:0.8223:0.1777	.	440;518;211	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	W	468;494;518;440	ENSP00000375809:R518W;ENSP00000375808:R440W	ENSP00000375805:R468W	R	-	1	2	ERCC2	50549941	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.671000	0.61590	2.507000	0.84556	0.561000	0.74099	CGG		0.587	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		31	96	0	0	0	1	0	31	96				
ARHGEF6	9459	broad.mit.edu	37	X	135825938	135825938	+	Missense_Mutation	SNP	G	G	A	rs144171880	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:135825938G>A	ENST00000250617.6	-	5	1672	c.467C>T	c.(466-468)aCg>aTg	p.T156M	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T2M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	156					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TCCATTTTCCGTCATCTCCTA	0.393																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(466-468)aCg>aTg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6		G	MET/THR	1,3834		0,0,1,1632,570	116.0	95.0	102.0		467	5.0	1.0	X	dbSNP_134	102	1,6727		0,1,0,2427,1872	no	missense	ARHGEF6	NM_004840.2	81	0,1,1,4059,2442	AA,AG,A,GG,G		0.0149,0.0261,0.0189	probably-damaging	156/777	135825938	2,10561	2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135825938G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.467C>T	X.37:g.135825938G>A	ENSP00000250617:p.Thr156Met					ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T2M	p.T156M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			5	1672	-	Acute lymphoblastic leukemia(192;0.000127)		156					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.467C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129001	0.77549	2.61E-4	1.49E-4	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.58358	0.34;0.52;0.52;0.43	5.86	4.99	0.66335	Src homology-3 domain (1);	0.140068	0.64402	N	0.000003	T	0.66655	0.2811	L	0.55481	1.735	0.43141	D	0.994896	D;D	0.89917	1.0;1.0	D;D	0.68621	0.95;0.959	T	0.68750	-0.5326	10	0.56958	D	0.05	.	14.1594	0.65436	0.0736:0.0:0.9264:0.0	.	2;156	B7Z3C7;Q15052	.;ARHG6_HUMAN	M	156;2;2;2;2	ENSP00000250617:T156M;ENSP00000359654:T2M;ENSP00000359656:T2M;ENSP00000439483:T2M	ENSP00000250617:T156M	T	-	2	0	ARHGEF6	135653604	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.758000	0.74929	1.212000	0.43366	0.600000	0.82982	ACG		0.393	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		39	40	0	0	0	1	0	39	40				
MDM2	4193	broad.mit.edu	37	12	69222647	69222647	+	Missense_Mutation	SNP	T	T	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:69222647T>A	ENST00000350057.5	+	6	527	c.527T>A	c.(526-528)gTa>gAa	p.V176E	MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.V146E|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.V207E|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V152E|MDM2_ENST00000544561.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	201	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GCTCTGTGTGTAATAAGGGAG	0.403			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(619-621)gTa>gAa		MDM2 oncogene, E3 ubiquitin protein ligase							168.0	160.0	163.0					12																	69222647		1900	4114	6014	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69222647T>A		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.527T>A	12.37:g.69222647T>A	ENSP00000266624:p.Val176Glu					MDM2_ENST00000545204.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.V176E|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V152E|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.V146E	p.V207E	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		8	922	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		201			Interaction with MTBP (By similarity).|Interaction with PYHIN1.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.620T>A		.	.	.	.	.	.	.	.	.	.	T	19.81	3.896905	0.72639	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.51574	1.36;0.71;0.7;0.75;1.37	4.74	3.56	0.40772	SWIB/MDM2 domain (1);	0.115335	0.64402	N	0.000018	T	0.39384	0.1076	L	0.35854	1.095	0.80722	D	1	B;B;B;B	0.31383	0.321;0.027;0.07;0.069	B;B;B;B	0.37239	0.244;0.012;0.082;0.039	T	0.12553	-1.0543	9	.	.	.	-2.35	11.4867	0.50358	0.1346:0.0:0.0:0.8654	.	156;201;152;207	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	E	207;156;146;201;162;152;201;201;176	ENSP00000417281:V207E;ENSP00000258149:V146E;ENSP00000258148:V152E;ENSP00000444430:V201E;ENSP00000266624:V176E	.	V	+	2	0	MDM2	67508914	1.000000	0.71417	0.935000	0.37517	0.947000	0.59692	3.860000	0.55995	0.882000	0.36016	0.383000	0.25322	GTA		0.403	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		53	57	0	0	0	1	0	53	57				
EHD1	10938	broad.mit.edu	37	11	64622120	64622120	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:64622120G>A	ENST00000320631.3	-	5	1544	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.A430A	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	430					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGCCCTCGCCGGCCCCCTCGC	0.662																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1288-1290)gcC>gcT		EH-domain containing 1							114.0	101.0	105.0					11																	64622120		2201	4297	6498	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622120G>A	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1290C>T	11.37:g.64622120G>A						EHD1_ENST00000359393.2_Silent_p.A430A|EHD1_ENST00000488711.1_5'UTR	p.A430A	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1544	-			430					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.1290C>T	CCDS8084.1																																																																																				0.662	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		4	122	0	0	0	1	0	4	122				
UTP14A	10813	broad.mit.edu	37	X	129060251	129060251	+	Missense_Mutation	SNP	A	A	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:129060251A>T	ENST00000394422.3	+	14	2007	c.1979A>T	c.(1978-1980)aAa>aTa	p.K660I	UTP14A_ENST00000425117.2_Missense_Mutation_p.K608I|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.K606I|UTP14A_ENST00000371042.3_Missense_Mutation_p.K492I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	660					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCTCCAAGAAAAGATAAGAAT	0.453											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(1978-1980)aAa>aTa		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							75.0	73.0	74.0					X																	129060251		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129060251A>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1979A>T	X.37:g.129060251A>T	ENSP00000377944:p.Lys660Ile		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.K606I|UTP14A_ENST00000425117.2_Missense_Mutation_p.K608I|UTP14A_ENST00000371042.3_Missense_Mutation_p.K492I	p.K660I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			14	2007	+			660					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1979A>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054464	0.75960	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	6.08	4.92	0.64577	.	0.136815	0.64402	D	0.000003	T	0.60209	0.2251	M	0.90369	3.11	0.48395	D	0.999645	P;D;P	0.69078	0.812;0.997;0.706	P;D;P	0.72625	0.511;0.978;0.545	T	0.65784	-0.6084	10	0.72032	D	0.01	-24.295	10.7625	0.46272	0.9249:0.0:0.0751:0.0	.	606;608;660	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	I	608;660;606;492	ENSP00000388669:K608I;ENSP00000377944:K660I;ENSP00000360090:K606I;ENSP00000360081:K492I	ENSP00000360081:K492I	K	+	2	0	UTP14A	128887932	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.251000	0.65438	0.900000	0.36469	0.486000	0.48141	AAA		0.453	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		35	60	0	0	0	1	0	35	60				
RNF167	26001	broad.mit.edu	37	17	4848111	4848111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:4848111G>T	ENST00000262482.6	+	10	1509	c.853G>T	c.(853-855)Gag>Tag	p.E285*	RNF167_ENST00000571816.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000575111.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000572430.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000576229.1_Nonsense_Mutation_p.E250*	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	285					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						CGAAGACCAAGAGGAAGAAAC	0.602																																						ENST00000262482.6																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(853-855)Gag>Tag		ring finger protein 167							136.0	132.0	133.0					17																	4848111		2203	4300	6503	SO:0001587	stop_gained	26001				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:4848111G>T	AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.853G>T	17.37:g.4848111G>T	ENSP00000262482:p.Glu285*					RNF167_ENST00000575111.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000572430.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000571816.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000576229.1_Nonsense_Mutation_p.E250*	p.E285*	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN			10	1509	+			285					D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Nonsense_Mutation	SNP	ENST00000262482.6	37	c.853G>T	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	G	39	7.603038	0.98384	.	.	ENSG00000108523	ENST00000262482	.	.	.	4.88	3.92	0.45320	.	0.350509	0.29459	N	0.012090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-5.5947	10.8404	0.46710	0.0923:0.0:0.9077:0.0	.	.	.	.	X	285	.	ENSP00000262482:E285X	E	+	1	0	RNF167	4788856	0.996000	0.38824	0.996000	0.52242	0.819000	0.46315	3.770000	0.55310	1.274000	0.44362	0.557000	0.71058	GAG		0.602	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		10	93	1	0	0.000978159	1	0.000978159	10	93				
ADCY2	108	broad.mit.edu	37	5	7626306	7626306	+	Missense_Mutation	SNP	C	C	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:7626306C>G	ENST00000338316.4	+	4	686	c.597C>G	c.(595-597)atC>atG	p.I199M		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	199				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCATTTTCATCTGTGGGAACC	0.448																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(595-597)atC>atG		adenylate cyclase 2 (brain)							162.0	157.0	159.0					5																	7626306		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626306C>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.597C>G	5.37:g.7626306C>G	ENSP00000342952:p.Ile199Met						p.I199M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			4	686	+			199	VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).				B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.597C>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049333	0.36181	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.77229	-1.08	5.09	5.09	0.68999	.	0.193145	0.47093	D	0.000244	T	0.69151	0.3079	L	0.34521	1.04	0.80722	D	1	B	0.19445	0.036	B	0.17098	0.017	T	0.64487	-0.6396	10	0.34782	T	0.22	.	16.0304	0.80574	0.0:1.0:0.0:0.0	.	199	Q08462	ADCY2_HUMAN	M	199;50	ENSP00000342952:I199M	ENSP00000342952:I199M	I	+	3	3	ADCY2	7679306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.663000	0.37429	2.520000	0.84964	0.655000	0.94253	ATC		0.448	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		55	85	0	0	0	1	0	55	85				
MAST3	23031	broad.mit.edu	37	19	18245714	18245714	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18245714G>A	ENST00000262811.6	+	16	1705	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CATGGGCGTCGTCCTCTATGA	0.632																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1705-1707)Gtc>Atc		microtubule associated serine/threonine kinase 3							98.0	106.0	103.0					19																	18245714		2062	4217	6279	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18245714G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1705G>A	19.37:g.18245714G>A	ENSP00000262811:p.Val569Ile						p.V569I	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			16	1705	+			569			Protein kinase.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.1705G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	5.645	0.303656	0.10678	.	.	ENSG00000099308	ENST00000262811	T	0.24723	1.84	4.8	0.811	0.18739	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.270108	0.40728	N	0.001035	T	0.07188	0.0182	N	0.02334	-0.595	0.32713	N	0.511322	B	0.06786	0.001	B	0.06405	0.002	T	0.42666	-0.9438	10	0.02654	T	1	-29.6574	8.0084	0.30338	0.8171:0.0:0.1829:0.0	.	569	O60307	MAST3_HUMAN	I	569	ENSP00000262811:V569I	ENSP00000262811:V569I	V	+	1	0	MAST3	18106714	1.000000	0.71417	0.983000	0.44433	0.967000	0.64934	2.549000	0.45803	0.249000	0.21456	0.313000	0.20887	GTC		0.632	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		31	109	0	0	0	1	0	31	109				
LINC01317	104355287	broad.mit.edu	37	2	33952822	33952822	+	lincRNA	SNP	G	G	A	rs535344007		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:33952822G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCAGCTCCACGAGGAGGATGA	0.617																																						ENST00000366209.2																			0																																																			0							g.chr2:33952822G>A																													2.37:g.33952822G>A						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.617	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			6	9	0	0	0	1	0	6	9				
OR4S1	256148	broad.mit.edu	37	11	48328178	48328178	+	Missense_Mutation	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:48328178A>G	ENST00000319988.1	+	1	404	c.404A>G	c.(403-405)gAt>gGt	p.D135G		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GCCATCATGGATTGCCGGAAG	0.582																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(403-405)gAt>gGt		olfactory receptor, family 4, subfamily S, member 1							101.0	90.0	94.0					11																	48328178		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328178A>G	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.404A>G	11.37:g.48328178A>G	ENSP00000321447:p.Asp135Gly						p.D135G	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	404	+			135					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.404A>G	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532541	0.27387	.	.	ENSG00000176555	ENST00000319988	T	0.36340	1.26	4.89	-6.37	0.01963	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34428	-0.9829	9	0.72032	D	0.01	.	9.608	0.39645	0.1846:0.2519:0.5636:0.0	.	135	Q8NGB4	OR4S1_HUMAN	G	135	ENSP00000321447:D135G	ENSP00000321447:D135G	D	+	2	0	OR4S1	48284754	0.000000	0.05858	0.001000	0.08648	0.508000	0.34012	-3.230000	0.00548	-1.119000	0.02958	0.459000	0.35465	GAT		0.582	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		41	37	0	0	0	1	0	41	37				
CACNG2	10369	broad.mit.edu	37	22	36960617	36960617	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:36960617G>A	ENST00000300105.6	-	4	1734	c.753C>T	c.(751-753)gaC>gaT	p.D251D	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	251					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGGGAGGCGTCCCTGGAGT	0.687																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(751-753)gaC>gaT		calcium channel, voltage-dependent, gamma subunit 2							62.0	70.0	67.0					22																	36960617		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960617G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.753C>T	22.37:g.36960617G>A							p.D251D	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1734	-			251					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.753C>T	CCDS13931.1																																																																																				0.687	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			11	126	0	0	0	1	0	11	126				
DCUN1D5	84259	broad.mit.edu	37	11	102937266	102937266	+	Silent	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:102937266T>C	ENST00000260247.5	-	5	714	c.372A>G	c.(370-372)aaA>aaG	p.K124K	DCUN1D5_ENST00000531543.1_Silent_p.K39K	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	124	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		AAAAGTCAAATTTGTTTTGTA	0.303																																						ENST00000260247.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)	4						c.(370-372)aaA>aaG		DCN1, defective in cullin neddylation 1, domain containing 5							71.0	69.0	69.0					11																	102937266		2202	4298	6500	SO:0001819	synonymous_variant	84259							g.chr11:102937266T>C		CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"""			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.372A>G	11.37:g.102937266T>C						DCUN1D5_ENST00000531543.1_Silent_p.K39K	p.K124K	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)	5	714	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	124			DCUN1.		Q3ZTT2	Silent	SNP	ENST00000260247.5	37	c.372A>G	CCDS8325.1	.	.	.	.	.	.	.	.	.	.	T	8.929	0.963035	0.18583	.	.	ENSG00000137692	ENST00000527260	.	.	.	5.74	3.45	0.39498	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52396	-0.8581	4	.	.	.	-13.5961	9.4221	0.38557	0.0:0.1456:0.0:0.8544	.	.	.	.	V	96	.	.	I	-	1	0	DCUN1D5	102442476	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.363000	0.34159	0.467000	0.27218	-0.379000	0.06801	ATT		0.303	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386382.2	NM_032299		31	37	0	0	0	1	0	31	37				
ZNF283	284349	broad.mit.edu	37	19	44352638	44352638	+	Missense_Mutation	SNP	C	C	T	rs111879759		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:44352638C>T	ENST00000324461.7	+	7	2182	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	ZNF283_ENST00000588797.1_Missense_Mutation_p.R490C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	629			R -> H (in dbSNP:rs1061768).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCTTTATCAACGTAAGGAATT	0.393																																						ENST00000324461.7																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(1885-1887)Cgt>Tgt		zinc finger protein 283							103.0	111.0	108.0					19																	44352638		2074	4236	6310	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352638C>T	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1885C>T	19.37:g.44352638C>T	ENSP00000327314:p.Arg629Cys					ZNF283_ENST00000588797.1_Missense_Mutation_p.R490C	p.R629C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			7	2182	+		Prostate(69;0.0352)	629		R -> H (in dbSNP:rs1061768).			B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.1885C>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.242673	0.00274	.	.	ENSG00000167637	ENST00000324461	T	0.03524	3.9	2.61	0.459	0.16678	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00468	0.0015	N	0.00004	-3.32	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44513	-0.9323	9	0.02654	T	1	.	6.7867	0.23677	0.0:0.2446:0.0:0.7554	.	629	Q8N7M2	ZN283_HUMAN	C	629	ENSP00000327314:R629C	ENSP00000327314:R629C	R	+	1	0	ZNF283	49044478	0.972000	0.33761	0.232000	0.24009	0.453000	0.32348	2.031000	0.41117	0.221000	0.20879	-0.414000	0.06135	CGT		0.393	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		7	95	0	0	0	1	0	7	95				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					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(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		4	242	0	0	0	1	0	4	242				
UQCC2	84300	broad.mit.edu	37	6	33665460	33665460	+	Silent	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr6:33665460G>T	ENST00000607484.1	-	4	391	c.351C>A	c.(349-351)ccC>ccA	p.P117P	UQCC2_ENST00000374214.3_Silent_p.P92P|SBP1_ENST00000594414.1_5'Flank|MIR3934_ENST00000579806.1_RNA	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	117					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CAGGACCCTTGGGGGCAAACT	0.488																																						ENST00000607484.1																			0											c.(349-351)ccC>ccA									106.0	100.0	102.0					6																	33665460		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr6:33665460G>T		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.351C>A	6.37:g.33665460G>T						MNF1_ENST00000374214.3_Silent_p.P92P	p.P117P	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN			4	391	-			117					B2R4I0	Silent	SNP	ENST00000607484.1	37	c.351C>A	CCDS4784.1																																																																																				0.488	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		32	42	1	0	7.61165e-28	1	8.12596e-28	32	42				
C2orf48	348738	broad.mit.edu	37	2	10350625	10350625	+	Missense_Mutation	SNP	G	G	A	rs556910395		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:10350625G>A	ENST00000381786.3	+	4	671	c.382G>A	c.(382-384)Gcg>Acg	p.A128T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	128										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		TGCACAGAGGGCGCTGGGCTC	0.587																																						ENST00000381786.3																			0				endometrium(1)|lung(7)	8						c.(382-384)Gcg>Acg		chromosome 2 open reading frame 48							63.0	67.0	66.0					2																	10350625		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350625G>A	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.382G>A	2.37:g.10350625G>A	ENSP00000371205:p.Ala128Thr						p.A128T	NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	671	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		128						Missense_Mutation	SNP	ENST00000381786.3	37	c.382G>A	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.154947	0.21371	.	.	ENSG00000163009	ENST00000381786	T	0.38401	1.14	1.51	-2.58	0.06228	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.16453	-1.0402	9	0.87932	D	0	.	2.1569	0.03814	0.4561:0.0:0.2962:0.2477	.	128	Q96LS8	CB048_HUMAN	T	128	ENSP00000371205:A128T	ENSP00000371205:A128T	A	+	1	0	C2orf48	10268076	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.336000	0.19823	-0.894000	0.03925	0.549000	0.68633	GCG		0.587	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		23	48	0	0	0	1	0	23	48				
BAIAP3	8938	broad.mit.edu	37	16	1396250	1396250	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:1396250G>A	ENST00000324385.5	+	25	2644	c.2486G>A	c.(2485-2487)gGg>gAg	p.G829E	BAIAP3_ENST00000426824.3_Missense_Mutation_p.G794E|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G811E|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G811E|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G758E|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G766E|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G771E	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	829					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGCCAGAGGGGGCCACGGGG	0.692																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2485-2487)gGg>gAg		BAI1-associated protein 3							22.0	27.0	25.0					16																	1396250		2191	4291	6482	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1396250G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2486G>A	16.37:g.1396250G>A	ENSP00000324510:p.Gly829Glu					BAIAP3_ENST00000397489.1_Missense_Mutation_p.G811E|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G766E|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G758E|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G794E|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G811E|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G771E	p.G829E	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			25	2644	+		Hepatocellular(780;0.0893)	829					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.2486G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.018122	0.00418	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69926	-0.43;-0.44;-0.44;-0.44;-0.43	3.98	1.8	0.24995	.	0.487974	0.21088	N	0.080374	T	0.51227	0.1662	L	0.47716	1.5	0.24973	N	0.991652	B;B;B;B	0.33583	0.021;0.01;0.01;0.418	B;B;B;B	0.28784	0.008;0.007;0.012;0.094	T	0.34279	-0.9835	10	0.12103	T	0.63	-38.3693	10.8304	0.46656	0.0:0.5467:0.4533:0.0	.	758;771;829;811	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	E	794;811;829;811;758	ENSP00000407242:G794E;ENSP00000380625:G811E;ENSP00000324510:G829E;ENSP00000380626:G811E;ENSP00000409533:G758E	ENSP00000324510:G829E	G	+	2	0	BAIAP3	1336251	1.000000	0.71417	0.393000	0.26258	0.045000	0.14185	1.399000	0.34566	0.849000	0.35215	0.491000	0.48974	GGG		0.692	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			10	9	0	0	0	1	0	10	9				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			0							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			5	108	0	0	0	1	0	5	108				
KRTAP4-6	81871	broad.mit.edu	37	17	39296556	39296556	+	Missense_Mutation	SNP	G	G	A	rs567238473	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:39296556G>A	ENST00000345847.4	-	1	183	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						cagctgggacggcagcAGGTG	0.667													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		17854	0.0		0.001	False		,,,				2504	0.0					ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(184-186)Cgt>Tgt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296556G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.184C>T	17.37:g.39296556G>A	ENSP00000328270:p.Arg62Cys						p.R62C	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	183	-			62			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.184C>T	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958365	0.34565	.	.	ENSG00000198090	ENST00000345847	T	0.00616	6.2	4.81	-1.49	0.08718	.	1.669520	0.04239	U	0.336543	T	0.01061	0.0035	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.48603	-0.9021	7	0.59425	D	0.04	.	9.6892	0.40118	0.0:0.1206:0.3706:0.5088	.	.	.	.	C	62	ENSP00000328270:R62C	ENSP00000328270:R62C	R	-	1	0	KRTAP4-6	36550082	0.000000	0.05858	0.020000	0.16555	0.063000	0.16089	-3.330000	0.00509	-0.573000	0.05998	-0.187000	0.12897	CGT		0.667	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			38	36	0	0	0	1	0	38	36				
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																						ENST00000066544.3																			1	Deletion - Frameshift(1)	p.I91fs*54(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(271-273)tcfs		cell division cycle 27							84.0	94.0	91.0					17																	45247389		2203	4299	6502	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247389delT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR	p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			4	364	-			91					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	148						7	148	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18958595	18958596	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18958595_18958596insA	ENST00000599848.1	+	3	623_624	c.414_415insA	c.(415-417)accfs	p.T139fs	UPF1_ENST00000262803.5_Frame_Shift_Ins_p.T139fs			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	139	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTTACTGTAATACCAGCAAGAA	0.436											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(412-417)aaccagfs		UPF1 regulator of nonsense transcripts homolog (yeast)																																				SO:0001589	frameshift_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18958595_18958596insA	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.415dupA	19.37:g.18958596_18958596dupA	ENSP00000470142:p.Thr139fs		OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	729	UPF1_ENST00000599848.1_Frame_Shift_Ins_p.NQ138fs	p.NQ138fs	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			3	686_687	+			138			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Frame_Shift_Ins	INS	ENST00000599848.1	37	c.414_415insA																																																																																					0.436	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		47	88						47	88	---	---	---	---
