#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_ACHILLES_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
RSC1A1	6248	broad.mit.edu	37	1	15987729	15987729	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr1:15987729G>A	ENST00000345034.1	+	1	1366	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	456					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGTCAACCGATAAGGAAGG	0.423																																							uc010obn.1		NA																	0				ovary(1)	1						c.(1366-1368)GAT>AAT		regulatory solute carrier protein, family 1,							68.0	65.0	66.0					1																	15987729		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987729G>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1366G>A	1.37:g.15987729G>A	ENSP00000341963:p.Asp456Asn						p.D456N	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1366	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	456					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1366G>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732061	0.30684	.	.	ENSG00000215695	ENST00000345034	T	0.24350	1.86	5.96	5.0	0.66597	.	0.762996	0.11328	N	0.575326	T	0.28234	0.0697	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	P	0.51701	0.677	T	0.07462	-1.0771	10	0.22109	T	0.4	-10.5436	12.6991	0.57020	0.0:0.2403:0.7596:0.0	.	456	Q92681	RSCA1_HUMAN	N	456	ENSP00000341963:D456N	ENSP00000341963:D456N	D	+	1	0	RSC1A1	15860316	0.001000	0.12720	0.036000	0.18154	0.044000	0.14063	0.852000	0.27764	2.832000	0.97577	0.655000	0.94253	GAT		0.423	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		10	21	0	0	0	0.006214	0	10	21				
CSMD2	114784	broad.mit.edu	37	1	34204868	34204868	+	Silent	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr1:34204868G>A	ENST00000373381.4	-	15	2417	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	707	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCAGCTGGAGGCTGTCCC	0.572																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(2119-2121)CTC>CTT		CUB and Sushi multiple domains 2							89.0	89.0	89.0					1																	34204868		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34204868G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2241C>T	1.37:g.34204868G>A						CSMD2_uc001bxm.1_Silent_p.L747L	p.L707L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			15	2150	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	707			Sushi 4.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2121C>T																																																																																					0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		15	76	0	0	0	0.004007	0	15	76				
NTNG1	22854	broad.mit.edu	37	1	108023306	108023306	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr1:108023306C>G	ENST00000370068.1	+	8	2310	c.1464C>G	c.(1462-1464)tgC>tgG	p.C488W	NTNG1_ENST00000370061.3_Missense_Mutation_p.C454W|NTNG1_ENST00000370072.3_Missense_Mutation_p.C443W|NTNG1_ENST00000370070.2_Missense_Mutation_p.C409W|NTNG1_ENST00000542803.1_Missense_Mutation_p.C488W|NTNG1_ENST00000370066.1_Missense_Mutation_p.C429W|NTNG1_ENST00000370071.2_Missense_Mutation_p.C429W|NTNG1_ENST00000370065.1_Missense_Mutation_p.C443W|NTNG1_ENST00000370067.1_Missense_Mutation_p.C409W|NTNG1_ENST00000370074.4_Missense_Mutation_p.C387W|NTNG1_ENST00000370073.2_Missense_Mutation_p.C488W			Q9Y2I2	NTNG1_HUMAN	netrin G1	488					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCTGCCTGTGCCCGGCCGCAT	0.682																																							uc001dvh.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1462-1464)TGC>TGG		netrin G1 isoform 1							26.0	29.0	28.0					1																	108023306		2203	4299	6502	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:108023306C>G	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1464C>G	1.37:g.108023306C>G	ENSP00000359085:p.Cys488Trp					NTNG1_uc001dvf.3_Missense_Mutation_p.C429W|NTNG1_uc010out.1_Missense_Mutation_p.C454W|NTNG1_uc001dvc.3_Missense_Mutation_p.C387W|NTNG1_uc001dvi.2_Missense_Mutation_p.A56G|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.P51A	p.C488W	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	8	2182	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	488					Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1464C>G	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830329	0.32329	.	.	ENSG00000162631	ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000370067;ENST00000370066;ENST00000370065	D;D;D;D;D;D;D;D;D;D;T	0.99837	-3.72;-7.06;-3.72;-3.72;-1.54;-7.06;-7.06;-3.72;-7.06;-7.06;-1.43	4.87	0.892	0.19230	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47852	D	0.000213	D	0.99641	0.9868	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.99505	1.0954	10	0.87932	D	0	.	8.5352	0.33360	0.0:0.628:0.0:0.372	.	454;488;429;387	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-1	.;NTNG1_HUMAN;.;.	W	488;429;488;454;443;409;387;291;235;387;488;409;429;443	ENSP00000359090:C488W;ENSP00000359088:C429W;ENSP00000440561:C488W;ENSP00000359078:C454W;ENSP00000359089:C443W;ENSP00000359087:C409W;ENSP00000359091:C387W;ENSP00000359085:C488W;ENSP00000359084:C409W;ENSP00000359083:C429W;ENSP00000359082:C443W	ENSP00000359078:C454W	C	+	3	2	NTNG1	107824829	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	0.912000	0.28597	-0.029000	0.13827	-0.379000	0.06801	TGC		0.682	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		4	44	0	0	0	0.001168	0	4	44				
VANGL1	81839	broad.mit.edu	37	1	116206601	116206601	+	Missense_Mutation	SNP	G	G	A	rs201441696		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr1:116206601G>A	ENST00000355485.2	+	4	795	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	VANGL1_ENST00000310260.3_Missense_Mutation_p.R175Q|VANGL1_ENST00000369509.1_Missense_Mutation_p.R175Q|VANGL1_ENST00000369510.4_Missense_Mutation_p.R173Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	175			R -> Q (in dbSNP:rs201441696). {ECO:0000269|PubMed:19319979}.		multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.F171fs*93(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCCGCAAGCGGAGAGCTGAC	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19147	0.0		0.001	False		,,,				2504	0.0						uc001efv.1		NA																	1	Deletion - Frameshift(1)		kidney(1)	central_nervous_system(1)	1						c.(523-525)CGG>CAG		vang-like 1							184.0	191.0	189.0					1																	116206601		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206601G>A	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.524G>A	1.37:g.116206601G>A	ENSP00000347672:p.Arg175Gln					VANGL1_uc009wgy.1_Missense_Mutation_p.R173Q|VANGL1_uc001efw.1_Missense_Mutation_p.R175Q	p.R175Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	795	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	175		R -> Q.	Cytoplasmic (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.524G>A	CCDS883.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.323	0.617373	0.14129	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.2	-2.3	0.06785	.	0.358596	0.28176	N	0.016316	T	0.43678	0.1258	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.45585	-0.9251	10	0.25751	T	0.34	-22.0691	12.3305	0.55038	0.2252:0.6959:0.0789:0.0	.	173;175	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	Q	175;173;175;175	ENSP00000347672:R175Q;ENSP00000358523:R173Q;ENSP00000310800:R175Q;ENSP00000358522:R175Q	ENSP00000310800:R175Q	R	+	2	0	VANGL1	116008124	0.363000	0.24989	0.603000	0.28903	0.507000	0.33981	1.344000	0.33941	-0.212000	0.10109	-0.378000	0.06908	CGG		0.493	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			26	147	0	0	0	0.004656	0	26	147				
CD2	914	broad.mit.edu	37	1	117311354	117311354	+	Silent	SNP	A	A	C			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr1:117311354A>C	ENST00000369478.3	+	5	1113	c.1005A>C	c.(1003-1005)ccA>ccC	p.P335P		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	335	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAGTTCAGCCAAAACCTCCCC	0.517																																					NSCLC(14;263 555 26380 43512 51332)	NSCLC(14;263 555 26380 43512 51332)	uc001egu.3		NA																	0				breast(1)	1						c.(1003-1005)CCA>CCC		CD2 molecule precursor	Alefacept(DB00092)						72.0	81.0	78.0					1																	117311354		2203	4300	6503	SO:0001819	synonymous_variant	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117311354A>C	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.1005A>C	1.37:g.117311354A>C							p.P335P	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	5	1034	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	335			Cytoplasmic (Potential).|Pro-rich.		Q96TE5	Silent	SNP	ENST00000369478.3	37	c.1005A>C	CCDS889.1																																																																																				0.517	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		3	120	0	0	0	0.004672	0	3	120				
KIF14	9928	broad.mit.edu	37	1	200559401	200559401	+	Splice_Site	SNP	C	C	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr1:200559401C>T	ENST00000367350.4	-	17	3252		c.e17-1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14						ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGCTTCAAGTCTACAATGTAG	0.338																																							uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.e17-1		kinesin family member 14							171.0	169.0	170.0					1																	200559401		2203	4300	6503	SO:0001630	splice_region_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200559401C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2814-1G>A	1.37:g.200559401C>T						KIF14_uc010ppj.1_Splice_Site_p.Q447_splice	p.Q938_splice	NM_014875	NP_055690	Q15058	KIF14_HUMAN			17	3253	-								Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	37	c.2814_splice	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512842	0.64522	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.346	0.94362	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF14	198826024	1.000000	0.71417	0.941000	0.38009	0.551000	0.35334	7.481000	0.81124	2.560000	0.86352	0.563000	0.77884	.		0.338	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	Intron	6	82	0	0	0	0.001984	0	6	82				
AHCTF1	25909	broad.mit.edu	37	1	247013024	247013024	+	Missense_Mutation	SNP	C	C	T	rs144318625		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr1:247013024C>T	ENST00000391829.2	-	33	6407	c.6284G>A	c.(6283-6285)cGc>cAc	p.R2095H	AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2130H|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2104H|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2095	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCTGCTGCTGCGGGATGATTT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		16953	0.001		0.0	False		,,,				2504	0.0				Colon(145;197 1800 4745 15099 26333)	Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(6283-6285)CGC>CAC		transcription factor ELYS		C	HIS/ARG	0,4406		0,0,2203	158.0	133.0	141.0		6311	0.5	0.0	1	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	missense	AHCTF1	NM_015446.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2104/2276	247013024	1,13005	2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013024C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6284G>A	1.37:g.247013024C>T	ENSP00000375705:p.Arg2095His					AHCTF1_uc001ibv.1_Missense_Mutation_p.R2104H|AHCTF1_uc009xgs.1_Missense_Mutation_p.R956H|AHCTF1_uc001ibw.1_RNA	p.R2095H	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		32	6291	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2095			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6284G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.47	1.946959	0.34377	0.0	1.16E-4	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.37584	1.19;1.2;1.2	5.77	0.543	0.17179	.	0.638332	0.14645	N	0.306933	T	0.29093	0.0723	M	0.62723	1.935	0.09310	N	1	B;B	0.29037	0.231;0.149	B;B	0.17433	0.018;0.008	T	0.15665	-1.0429	10	0.49607	T	0.09	0.9645	5.9283	0.19124	0.0:0.5903:0.1259:0.2837	.	2130;2095	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	H	2130;2104;2095	ENSP00000355464:R2130H;ENSP00000355465:R2104H;ENSP00000375705:R2095H	ENSP00000355465:R2104H	R	-	2	0	AHCTF1	245079647	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.447000	0.06828	-0.137000	0.11455	0.655000	0.94253	CGC		0.458	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		5	59	0	0	0	0.000602	0	5	59				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	46	0	0	0	0.004672	0	3	46				
CYP2C9	1559	broad.mit.edu	37	10	96745823	96745823	+	Silent	SNP	C	C	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr10:96745823C>T	ENST00000260682.6	+	8	1195	c.1183C>T	c.(1183-1185)Cta>Tta	p.L395L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	395					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GACTTCTGTGCTACATGACAA	0.388																																					Ovarian(54;1266 1406 16072 35076)	Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NA																	0				skin(4)|ovary(2)	6						c.(1183-1185)CTA>TTA		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						146.0	136.0	139.0					10																	96745823		2203	4300	6503	SO:0001819	synonymous_variant	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96745823C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1183C>T	10.37:g.96745823C>T						CYP2C9_uc009xut.2_Silent_p.L393L	p.L395L	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	8	1208	+		Colorectal(252;0.0902)	395					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.1183C>T	CCDS7437.1																																																																																				0.388	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		5	97	0	0	0	0.001168	0	5	97				
DMBT1	1755	broad.mit.edu	37	10	124399788	124399788	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr10:124399788C>T	ENST00000338354.3	+	52	6894	c.6788C>T	c.(6787-6789)tCa>tTa	p.S2263L	DMBT1_ENST00000330163.4_Missense_Mutation_p.S1635L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S983L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2253L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2253L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1635L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2263L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2263	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATACTTCCTCATCTTTCTTG	0.458																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(6787-6789)TCA>TTA		deleted in malignant brain tumors 1 isoform b							225.0	208.0	213.0					10																	124399788		1995	4185	6180	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399788C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6788C>T	10.37:g.124399788C>T	ENSP00000342210:p.Ser2263Leu					DMBT1_uc001lgl.1_Missense_Mutation_p.S2253L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1635L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2262L|DMBT1_uc010qtx.1_Missense_Mutation_p.S983L|DMBT1_uc009yab.1_Missense_Mutation_p.S966L|DMBT1_uc009yac.1_Missense_Mutation_p.S557L	p.S2263L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	6894	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2263			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6788C>T		.	.	.	.	.	.	.	.	.	.	C	16.02	3.005412	0.54254	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.53	5.53	0.82687	Zona pellucida sperm-binding protein (3);	0.000000	0.32386	U	0.006175	D	0.89012	0.6594	M	0.78456	2.415	0.26198	N	0.97948	P;P;P;P;P;P;P	0.51933	0.949;0.874;0.822;0.903;0.822;0.903;0.921	P;B;B;P;B;P;P	0.52957	0.51;0.443;0.359;0.591;0.359;0.591;0.714	D	0.83992	0.0338	10	0.62326	D	0.03	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	983;2243;1512;2392;1635;2253;2263	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	L	2263;2392;2263;2263;2263;2262;1635;2253;1635;1635;2263;2253;1635;409;983	ENSP00000342210:S2263L;ENSP00000343175:S2253L;ENSP00000327747:S1635L;ENSP00000357905:S2263L;ENSP00000357951:S2253L;ENSP00000357952:S1635L;ENSP00000352593:S983L	ENSP00000331522:S1635L	S	+	2	0	DMBT1	124389778	0.605000	0.26941	0.403000	0.26384	0.075000	0.17131	3.360000	0.52299	2.605000	0.88082	0.655000	0.94253	TCA		0.458	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	95	0	0	0	0.001984	0	7	95				
ARHGAP32	9743	broad.mit.edu	37	11	128851343	128851343	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr11:128851343C>T	ENST00000310343.9	-	16	1705	c.1706G>A	c.(1705-1707)gGc>gAc	p.G569D	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G220D|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G220D|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G495D	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	569					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GCTGATTCTGCCGCTGAACAG	0.537																																							uc009zcp.2		NA																	0				lung(3)|ovary(2)	5						c.(1705-1707)GGC>GAC		Rho GTPase-activating protein isoform 1							153.0	130.0	137.0					11																	128851343		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128851343C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1706G>A	11.37:g.128851343C>T	ENSP00000310561:p.Gly569Asp					ARHGAP32_uc009zcq.1_Missense_Mutation_p.G529D|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.G220D	p.G569D	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			16	1706	-			569					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.1706G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	8.582	0.882451	0.17467	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.08458	3.12;3.11;3.09;3.11	5.7	5.7	0.88788	.	0.337598	0.34580	N	0.003849	T	0.03608	0.0103	N	0.02539	-0.55	0.33129	D	0.542895	B;B	0.30104	0.0;0.268	B;B	0.28553	0.0;0.091	T	0.38607	-0.9653	10	0.12766	T	0.61	.	14.0995	0.65046	0.0:0.7352:0.2648:0.0	.	503;569	Q86T64;A7KAX9	.;RHG32_HUMAN	D	569;220;495;503;220	ENSP00000310561:G569D;ENSP00000376425:G220D;ENSP00000432468:G495D;ENSP00000432862:G220D	ENSP00000310561:G569D	G	-	2	0	ARHGAP32	128356553	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.793000	0.55484	2.703000	0.92315	0.655000	0.94253	GGC		0.537	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		4	86	0	0	0	0.000602	0	4	86				
M6PR	4074	broad.mit.edu	37	12	9098883	9098883	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr12:9098883T>C	ENST00000000412.3	-	2	586	c.118A>G	c.(118-120)Aaa>Gaa	p.K40E		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	40					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TCTGACTCTTTACCCTTTTCT	0.428																																							uc001qvf.2		NA																	0					0						c.(118-120)AAA>GAA		cation-dependent mannose-6-phosphate receptor							143.0	134.0	137.0					12																	9098883		2203	4300	6503	SO:0001583	missense	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9098883T>C		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.118A>G	12.37:g.9098883T>C	ENSP00000000412:p.Lys40Glu						p.K40E	NM_002355	NP_002346	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	2	288	-		Hepatocellular(102;0.137)	40			Lumenal (Potential).		A8K528|D3DUV5	Missense_Mutation	SNP	ENST00000000412.3	37	c.118A>G	CCDS8598.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.615066	0.46631	.	.	ENSG00000003056	ENST00000000412;ENST00000543845;ENST00000543159	T;T;T	0.75260	-0.92;-0.92;-0.92	5.82	4.61	0.57282	Mannose-6-phosphate receptor, binding (1);	0.624963	0.16280	N	0.221420	T	0.61438	0.2347	L	0.40543	1.245	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.45323	-0.9269	10	0.06494	T	0.89	-9.7346	10.9359	0.47245	0.0:0.0:0.2623:0.7377	.	40	P20645	MPRD_HUMAN	E	40	ENSP00000000412:K40E;ENSP00000440962:K40E;ENSP00000441030:K40E	ENSP00000000412:K40E	K	-	1	0	M6PR	8990150	0.042000	0.20092	0.933000	0.37362	0.994000	0.84299	1.512000	0.35812	2.228000	0.72767	0.533000	0.62120	AAA		0.428	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			4	92	0	0	0	0.009096	0	4	92				
MMP19	4327	broad.mit.edu	37	12	56231671	56231671	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr12:56231671G>A	ENST00000322569.4	-	7	1107	c.1016C>T	c.(1015-1017)gCt>gTt	p.A339V	MMP19_ENST00000409200.3_Silent_p.C292C|MMP19_ENST00000394182.1_Missense_Mutation_p.A53V|MMP19_ENST00000548629.1_Missense_Mutation_p.A316V|TMEM198B_ENST00000478241.1_RNA	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	339					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GTAGACAGCAGCATCCAGGTT	0.512																																							uc001sib.2		NA																	0				ovary(1)	1						c.(1015-1017)GCT>GTT		matrix metalloproteinase 19 isoform rasi-1							95.0	97.0	96.0					12																	56231671		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56231671G>A	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1016C>T	12.37:g.56231671G>A	ENSP00000313437:p.Ala339Val					MMP19_uc001sia.2_Missense_Mutation_p.A53V|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Silent_p.C292C	p.A339V	NM_002429	NP_002420	Q99542	MMP19_HUMAN			7	1137	-			339			Hemopexin-like 2.		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.1016C>T	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	G	36	5.676702	0.96764	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.18810	2.19;2.19;2.19	5.94	5.94	0.96194	Hemopexin/matrixin (2);	0.053504	0.85682	D	0.000000	T	0.60392	0.2265	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.70641	-0.4816	10	0.87932	D	0	.	17.8571	0.88767	0.0:0.0:1.0:0.0	.	339;53	Q99542;Q99542-3	MMP19_HUMAN;.	V	53;339;316	ENSP00000377736:A53V;ENSP00000313437:A339V;ENSP00000446979:A316V	ENSP00000313437:A339V	A	-	2	0	MMP19	54517938	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.056000	0.93881	2.826000	0.97356	0.561000	0.74099	GCT		0.512	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		20	75	0	0	0	0.008871	0	20	75				
XPO4	64328	broad.mit.edu	37	13	21375083	21375083	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr13:21375083T>C	ENST00000255305.6	-	14	1935	c.1864A>G	c.(1864-1866)Ata>Gta	p.I622V	XPO4_ENST00000400602.2_Missense_Mutation_p.I622V			Q9C0E2	XPO4_HUMAN	exportin 4	622					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TCTGCTCTTATTGCTCGAGAT	0.378																																							uc001unq.3		NA																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(1864-1866)ATA>GTA		exportin 4							122.0	112.0	115.0					13																	21375083		1816	4083	5899	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21375083T>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1864A>G	13.37:g.21375083T>C	ENSP00000255305:p.Ile622Val						p.I622V	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	14	1900	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	622					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1864A>G	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548654	0.45383	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.66280	-0.2;-0.2	5.65	5.65	0.86999	Armadillo-type fold (1);	0.043296	0.85682	D	0.000000	T	0.41026	0.1141	N	0.08118	0	0.40071	D	0.97601	B	0.02656	0.0	B	0.04013	0.001	T	0.37820	-0.9689	10	0.10111	T	0.7	-15.1171	15.882	0.79211	0.0:0.0:0.0:1.0	.	622	Q9C0E2	XPO4_HUMAN	V	622;492;622	ENSP00000383444:I622V;ENSP00000255305:I622V	ENSP00000255305:I622V	I	-	1	0	XPO4	20273083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.898000	0.69838	2.155000	0.67459	0.533000	0.62120	ATA		0.378	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		4	80	0	0	0	0.001168	0	4	80				
KTN1	3895	broad.mit.edu	37	14	56106693	56106693	+	Missense_Mutation	SNP	G	G	A	rs375858500		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr14:56106693G>A	ENST00000395314.3	+	14	1954	c.1886G>A	c.(1885-1887)cGt>cAt	p.R629H	KTN1_ENST00000395308.1_Missense_Mutation_p.R629H|KTN1_ENST00000413890.2_Missense_Mutation_p.R629H|KTN1_ENST00000395311.1_Missense_Mutation_p.R629H|KTN1_ENST00000438792.2_Missense_Mutation_p.R629H|KTN1_ENST00000416613.1_Missense_Mutation_p.R629H|KTN1_ENST00000395309.3_Missense_Mutation_p.R629H	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	629					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAACGTGATCGTTTAACAAGT	0.299			T	RET	papillary thryoid																																		uc001xcb.2		NA		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(1885-1887)CGT>CAT		kinectin 1 isoform a							125.0	146.0	139.0					14																	56106693		2203	4299	6502	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56106693G>A		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1886G>A	14.37:g.56106693G>A	ENSP00000378725:p.Arg629His					KTN1_uc001xce.2_Missense_Mutation_p.R629H|KTN1_uc001xcc.2_Missense_Mutation_p.R629H|KTN1_uc001xcd.2_Missense_Mutation_p.R629H|KTN1_uc010trb.1_Missense_Mutation_p.R629H|KTN1_uc001xcf.1_Missense_Mutation_p.R629H	p.R629H	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			15	2188	+			629			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.1886G>A	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	7.479	0.648328	0.14516	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.71	5.71	0.89125	.	0.123169	0.36234	N	0.002707	T	0.10252	0.0251	N	0.00538	-1.39	0.19775	N	0.999953	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.21314	-1.0249	10	0.32370	T	0.25	-7.3051	11.8067	0.52158	0.9313:0.0:0.0687:0.0	.	629;629;629;629	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	H	629	ENSP00000394992:R629H;ENSP00000378720:R629H;ENSP00000391964:R629H;ENSP00000378725:R629H;ENSP00000378719:R629H;ENSP00000378722:R629H;ENSP00000388807:R629H	ENSP00000378719:R629H	R	+	2	0	KTN1	55176446	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.669000	0.46825	0.988000	0.38734	-0.490000	0.04691	CGT		0.299	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			19	129	0	0	0	0.002299	0	19	129				
HERC2	8924	broad.mit.edu	37	15	28447338	28447338	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr15:28447338A>G	ENST00000261609.7	-	47	7646	c.7538T>C	c.(7537-7539)cTc>cCc	p.L2513P		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCATCTGAGAGCTCCGTGAC	0.587																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(7537-7539)CTC>CCC		hect domain and RLD 2							15.0	16.0	16.0					15																	28447338		2195	4270	6465	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28447338A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7538T>C	15.37:g.28447338A>G	ENSP00000261609:p.Leu2513Pro					HERC2_uc001zbk.1_Missense_Mutation_p.L48P	p.L2513P	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	47	7644	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2513						Missense_Mutation	SNP	ENST00000261609.7	37	c.7538T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995777	0.54147	.	.	ENSG00000128731	ENST00000261609	T	0.45276	0.9	4.29	4.29	0.51040	.	0.147380	0.45361	D	0.000369	T	0.49270	0.1547	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.44019	-0.9355	10	0.36615	T	0.2	.	13.9286	0.63978	1.0:0.0:0.0:0.0	.	2513	O95714	HERC2_HUMAN	P	2513	ENSP00000261609:L2513P	ENSP00000261609:L2513P	L	-	2	0	HERC2	26120933	1.000000	0.71417	0.998000	0.56505	0.332000	0.28634	9.120000	0.94369	1.942000	0.56320	0.374000	0.22700	CTC		0.587	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		9	32	0	0	0	0.006214	0	9	32				
TBC1D24	57465	broad.mit.edu	37	16	2550823	2550823	+	Missense_Mutation	SNP	C	C	T	rs267607105		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr16:2550823C>T	ENST00000293970.5	+	8	1677	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000567020.1_Missense_Mutation_p.A509V|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A515V	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	515	TLD.		A -> V (in FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons). {ECO:0000269|PubMed:20727515}.		neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GGCGGCCAGGCGCTCTACATC	0.642											OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002cql.2		NA																	0					0						c.(1543-1545)GCG>GTG		TBC1 domain family, member 24							36.0	47.0	43.0					16																	2550823		2159	4236	6395	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2550823C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1544C>T	16.37:g.2550823C>T	ENSP00000293970:p.Ala515Val		OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	604	TBC1D24_uc002cqk.2_Missense_Mutation_p.A509V|TBC1D24_uc002cqm.2_Intron|TBC1D24_uc010bsm.2_RNA	p.A515V	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			8	1684	+			515		A -> V (in FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons).	TLD.		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.1544C>T	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460815	0.84317	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.47869	0.83	5.79	5.79	0.91817	TLDc (2);	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82442	-0.0455	10	0.87932	D	0	-38.5105	18.6216	0.91323	0.0:1.0:0.0:0.0	.	515;509	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	V	509;515	ENSP00000390106:A515V	ENSP00000293970:A509V	A	+	2	0	TBC1D24	2490824	1.000000	0.71417	0.965000	0.40720	0.147000	0.21601	5.773000	0.68898	2.731000	0.93534	0.650000	0.86243	GCG		0.642	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		5	23	0	0	0	0.000602	0	5	23				
NOMO1	23420	broad.mit.edu	37	16	14988854	14988854	+	Splice_Site	SNP	G	G	C			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr16:14988854G>C	ENST00000287667.7	+	30	3615		c.e30-1			NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GGTGTTTGCAGAGGAAGCTGC	0.562																																							uc002dcv.2		NA																	0				ovary(1)	1						c.e30-1		nodal modulator 1 precursor							152.0	150.0	150.0					16																	14988854		2196	4298	6494	SO:0001630	splice_region_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14988854G>C	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3445-1G>C	16.37:g.14988854G>C							p.R1149_splice	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			30	3511	+								P78421|Q8IW21|Q96DG0	Splice_Site	SNP	ENST00000287667.7	37	c.3445_splice	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	17.04	3.287292	0.59867	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2338	0.54503	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NOMO1	14896355	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.497000	0.90488	1.764000	0.52075	0.384000	0.25694	.		0.562	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1		Intron	5	160	0	0	0	0.004482	0	5	160				
CACNG3	10368	broad.mit.edu	37	16	24358138	24358138	+	Splice_Site	SNP	C	C	T	rs200755015		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr16:24358138C>T	ENST00000005284.3	+	2	1497	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	99					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	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)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATATCTCCTGCGTAAGTTCCC	0.552																																							uc002dmf.2		NA																	0					0						c.(295-297)CGA>TGA		voltage-dependent calcium channel gamma-3							70.0	63.0	65.0					16																	24358138		2197	4300	6497	SO:0001630	splice_region_variant	10368				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	voltage-gated calcium channel activity	g.chr16:24358138C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.295+1C>T	16.37:g.24358138C>T							p.R99*	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	2	1495	+			99						Nonsense_Mutation	SNP	ENST00000005284.3	37	c.295C>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	C	48	13.936625	0.99771	.	.	ENSG00000006116	ENST00000005284	.	.	.	5.61	2.21	0.28008	.	0.054842	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3766	14.6615	0.68876	0.4038:0.5962:0.0:0.0	.	.	.	.	X	99	.	ENSP00000005284:R99X	R	+	1	2	CACNG3	24265639	0.992000	0.36948	0.993000	0.49108	0.897000	0.52465	2.872000	0.48467	0.722000	0.32252	0.655000	0.94253	CGA		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	Nonsense_Mutation	8	48	0	0	0	0.004482	0	8	48				
CACNG3	10368	broad.mit.edu	37	16	24366264	24366264	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr16:24366264C>T	ENST00000005284.3	+	3	1608	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	136					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	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)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAACGTCATTCTCAGCGCGGG	0.587																																							uc002dmf.2		NA																	0					0						c.(406-408)CTC>TTC		voltage-dependent calcium channel gamma-3							61.0	54.0	56.0					16																	24366264		2197	4300	6497	SO:0001583	missense	10368				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	voltage-gated calcium channel activity	g.chr16:24366264C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.406C>T	16.37:g.24366264C>T	ENSP00000005284:p.Leu136Phe						p.L136F	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1606	+			136			Helical; (Potential).			Missense_Mutation	SNP	ENST00000005284.3	37	c.406C>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934418	0.73442	.	.	ENSG00000006116	ENST00000005284	T	0.81078	-1.45	5.41	5.41	0.78517	.	0.129058	0.52532	D	0.000076	D	0.84772	0.5546	L	0.45285	1.41	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	T	0.78816	-0.2055	10	0.13108	T	0.6	-23.9301	18.9864	0.92771	0.0:1.0:0.0:0.0	.	136	O60359	CCG3_HUMAN	F	136	ENSP00000005284:L136F	ENSP00000005284:L136F	L	+	1	0	CACNG3	24273765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.089000	0.76909	2.815000	0.96918	0.561000	0.74099	CTC		0.587	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		3	55	0	0	0	0.009096	0	3	55				
CHD9	80205	broad.mit.edu	37	16	53341792	53341792	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr16:53341792A>G	ENST00000398510.3	+	32	7067	c.6980A>G	c.(6979-6981)cAt>cGt	p.H2327R	CHD9_ENST00000566029.1_Missense_Mutation_p.H2327R|CHD9_ENST00000447540.1_Missense_Mutation_p.H2328R|CHD9_ENST00000564845.1_Missense_Mutation_p.H2327R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2327					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAGAAGAACATGATCAGTCA	0.453																																							uc002ehb.2		NA																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(6979-6981)CAT>CGT		chromodomain helicase DNA binding protein 9							41.0	41.0	41.0					16																	53341792		1959	4165	6124	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53341792A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6980A>G	16.37:g.53341792A>G	ENSP00000381522:p.His2327Arg					CHD9_uc002egy.2_Missense_Mutation_p.H2327R|CHD9_uc002ehc.2_Missense_Mutation_p.H2328R|CHD9_uc002ehf.2_Missense_Mutation_p.H1441R|CHD9_uc010cbw.2_Missense_Mutation_p.H393R|CHD9_uc002ehg.1_Missense_Mutation_p.H334R	p.H2327R	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			32	7144	+		all_cancers(37;0.0212)	2327					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6980A>G		.	.	.	.	.	.	.	.	.	.	A	10.85	1.466933	0.26335	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.85861	-1.92;-2.04	5.58	4.47	0.54385	.	0.105582	0.41605	D	0.000856	T	0.75243	0.3823	L	0.36672	1.1	0.24836	N	0.992493	B;B;B;B;B	0.22746	0.003;0.073;0.0;0.073;0.074	B;B;B;B;B	0.25614	0.003;0.028;0.001;0.028;0.062	T	0.58999	-0.7536	10	0.23302	T	0.38	-10.4975	6.3894	0.21579	0.7284:0.1419:0.1297:0.0	.	393;2327;2328;2327;2327	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	R	2328;2327;393	ENSP00000396345:H2328R;ENSP00000381522:H2327R	ENSP00000381522:H2327R	H	+	2	0	CHD9	51899293	0.012000	0.17670	0.997000	0.53966	0.998000	0.95712	0.323000	0.19593	2.253000	0.74438	0.455000	0.32223	CAT		0.453	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		4	26	0	0	0	0.004482	0	4	26				
EFCAB3	146779	broad.mit.edu	37	17	60483983	60483983	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr17:60483983A>T	ENST00000305286.3	+	7	709	c.631A>T	c.(631-633)Att>Ttt	p.I211F	EFCAB3_ENST00000450662.2_Missense_Mutation_p.I263F	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	211							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGCTGCCCGGATTGCAATAAT	0.403																																							uc002izu.1		NA																	0				skin(1)	1						c.(631-633)ATT>TTT		EF-hand calcium binding domain 3 isoform b							67.0	64.0	65.0					17																	60483983		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60483983A>T	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.631A>T	17.37:g.60483983A>T	ENSP00000302649:p.Ile211Phe					EFCAB3_uc010wpc.1_Missense_Mutation_p.I263F	p.I211F	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		7	709	+			211					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.631A>T	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660708	0.29515	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.64085	-0.08;-0.06	5.35	-2.46	0.06461	.	0.852670	0.10293	N	0.692057	T	0.53254	0.1785	M	0.66939	2.045	0.09310	N	1	P	0.37015	0.578	B	0.28305	0.088	T	0.43972	-0.9358	10	0.66056	D	0.02	.	10.8034	0.46502	0.4872:0.0:0.5128:0.0	.	211	Q8N7B9	EFCB3_HUMAN	F	263;211	ENSP00000403932:I263F;ENSP00000302649:I211F	ENSP00000302649:I211F	I	+	1	0	EFCAB3	57837715	0.001000	0.12720	0.000000	0.03702	0.047000	0.14425	0.304000	0.19228	-0.723000	0.04915	-0.462000	0.05337	ATT		0.403	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		3	25	0	0	0	0.004672	0	3	25				
GH1	2688	broad.mit.edu	37	17	61995414	61995414	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr17:61995414G>A	ENST00000323322.5	-	3	296	c.254C>T	c.(253-255)cCg>cTg	p.P85L	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.P70L	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	85					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGAGGGTGTCGGAATAGACTC	0.562																																							uc002jdj.2		NA																	0					0						c.(253-255)CCG>CTG		growth hormone 1 isoform 1							160.0	165.0	163.0					17																	61995414		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995414G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.254C>T	17.37:g.61995414G>A	ENSP00000312673:p.Pro85Leu					GH1_uc002jdi.2_Missense_Mutation_p.P70L|GH1_uc002jdk.2_Intron|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.P85L	p.P85L	NM_000515	NP_000506	P01241	SOMA_HUMAN			3	316	-			85					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.254C>T	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	13.18	2.160679	0.38119	.	.	ENSG00000204414	ENST00000323322;ENST00000458650	D;D	0.87571	-2.27;-2.27	2.68	2.68	0.31781	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.464723	0.24841	N	0.035175	D	0.91109	0.7201	M	0.77616	2.38	0.80722	D	1	D;P;P	0.89917	1.0;0.885;0.885	D;B;B	0.64144	0.922;0.431;0.431	D	0.90907	0.4773	10	0.72032	D	0.01	.	8.9455	0.35756	0.0:0.0:1.0:0.0	.	85;85;70	C9JYZ1;P01241;B1A4G7	.;SOMA_HUMAN;.	L	85;70	ENSP00000312673:P85L;ENSP00000408486:P70L	ENSP00000312673:P85L	P	-	2	0	GH1	59349146	0.998000	0.40836	0.841000	0.33234	0.397000	0.30659	3.320000	0.51991	1.497000	0.48584	0.298000	0.19748	CCG		0.562	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		27	160	0	0	0	0.004656	0	27	160				
PLVAP	83483	broad.mit.edu	37	19	17476311	17476311	+	Silent	SNP	C	C	T	rs150210307		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr19:17476311C>T	ENST00000252590.4	-	3	1024	c.963G>A	c.(961-963)gcG>gcA	p.A321A	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTCTGTTTCGCCTCCTGAC	0.667																																							uc002ngk.1		NA																	0					0						c.(961-963)GCG>GCA		plasmalemma vesicle associated protein		C		0,4406		0,0,2203	46.0	39.0	41.0		963	-1.5	0.1	19	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PLVAP	NM_031310.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		321/443	17476311	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476311C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.963G>A	19.37:g.17476311C>T							p.A321A	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	1013	-			321			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.963G>A	CCDS32952.1																																																																																				0.667	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		10	23	0	0	0	0.006214	0	10	23				
LRFN3	79414	broad.mit.edu	37	19	36430831	36430831	+	Silent	SNP	C	C	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr19:36430831C>T	ENST00000588831.1	+	3	1558	c.504C>T	c.(502-504)ctC>ctT	p.L168L	LRFN3_ENST00000246529.3_Silent_p.L168L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	168					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACAACAACCTCGAGCAGCTGC	0.657																																							uc002oco.2		NA																	0					0						c.(502-504)CTC>CTT		leucine rich repeat and fibronectin type III							58.0	58.0	58.0					19																	36430831		2201	4297	6498	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430831C>T	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.504C>T	19.37:g.36430831C>T							p.L168L	NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	956	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		168			Extracellular (Potential).|LRR 5.		Q6UY10	Silent	SNP	ENST00000588831.1	37	c.504C>T	CCDS12483.1																																																																																				0.657	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		33	69	0	0	0	0.012213	0	33	69				
CTNNA2	1496	broad.mit.edu	37	2	80101465	80101465	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr2:80101465T>G	ENST00000402739.4	+	5	854	c.849T>G	c.(847-849)ttT>ttG	p.F283L	CTNNA2_ENST00000496558.1_Missense_Mutation_p.F283L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.F283L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.F283L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.F283L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.F317L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	283					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTAATGAGTTTGACGTAAGCA	0.517																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(847-849)TTT>TTG		catenin, alpha 2 isoform 1							39.0	42.0	41.0					2																	80101465		1993	4161	6154	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101465T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.849T>G	2.37:g.80101465T>G	ENSP00000384638:p.Phe283Leu					CTNNA2_uc010yse.1_Missense_Mutation_p.F283L|CTNNA2_uc010ysf.1_Missense_Mutation_p.F283L|CTNNA2_uc010ysg.1_Missense_Mutation_p.F283L	p.F283L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	854	+			283					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.849T>G		.	.	.	.	.	.	.	.	.	.	T	13.84	2.357265	0.41801	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.72	2.04	0.26737	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	L	0.38531	1.155	0.80722	D	1	B;B;B	0.28350	0.208;0.004;0.004	B;B;B	0.40375	0.327;0.009;0.009	T	0.06338	-1.0832	10	0.02654	T	1	.	9.1422	0.36910	0.0:0.2092:0.0:0.7908	.	283;283;283	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	283;283;317;283;283;283	ENSP00000418191:F283L;ENSP00000419295:F283L;ENSP00000355398:F317L;ENSP00000384638:F283L;ENSP00000444675:F283L;ENSP00000441705:F283L	ENSP00000355398:F317L	F	+	3	2	CTNNA2	79954973	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	3.510000	0.53393	0.420000	0.25954	0.528000	0.53228	TTT		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		11	55	0	0	0	0.001368	0	11	55				
TTN	7273	broad.mit.edu	37	2	179399027	179399027	+	Silent	SNP	A	A	G			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr2:179399027A>G	ENST00000591111.1	-	308	97616	c.97392T>C	c.(97390-97392)gtT>gtC	p.V32464V	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Silent_p.V25165V|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Silent_p.V31537V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Silent_p.V34105V|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Silent_p.V25040V|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.V25232V|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32464					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)			CTGCTGACACAACCATGTTGA	0.443																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94609-94611)GTT>GTC		titin isoform N2-A							124.0	120.0	122.0					2																	179399027		1945	4150	6095	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399027A>G	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.97392T>C	2.37:g.179399027A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V25232V|TTN_uc010zfi.1_Silent_p.V25165V|TTN_uc010zfj.1_Silent_p.V25040V	p.V31537V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94835	-			32464					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	Silent	SNP	ENST00000591111.1	37	c.94611T>C																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	102	0	0	0	0.004672	0	3	102				
GTSE1	51512	broad.mit.edu	37	22	46704460	46704460	+	Missense_Mutation	SNP	G	G	T	rs373461999		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr22:46704460G>T	ENST00000454366.1	+	4	594	c.382G>T	c.(382-384)Gac>Tac	p.D128Y		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	109					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAAGCCTGAAGACCCTCGGAG	0.488																																					GBM(153;542 1915 12487 29016 50495)	GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NA																	0				ovary(1)	1						c.(382-384)GAC>TAC		G-2 and S-phase expressed 1							40.0	49.0	46.0					22																	46704460		2203	4298	6501	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704460G>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.382G>T	22.37:g.46704460G>T	ENSP00000415430:p.Asp128Tyr					GTSE1_uc011aqz.1_5'UTR	p.D128Y	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	594	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	109					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.382G>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950750	0.53186	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08008	3.14	5.69	3.49	0.39957	.	1.308640	0.04514	N	0.383402	T	0.16896	0.0406	L	0.51422	1.61	0.09310	N	1	D	0.60160	0.987	P	0.55303	0.773	T	0.12734	-1.0536	10	0.59425	D	0.04	-2.536	3.7376	0.08517	0.3642:0.1847:0.4512:0.0	.	109	Q9NYZ3	GTSE1_HUMAN	Y	128;88	ENSP00000415430:D128Y	ENSP00000354634:D88Y	D	+	1	0	GTSE1	45083124	0.002000	0.14202	0.001000	0.08648	0.138000	0.21146	1.303000	0.33470	1.259000	0.44117	0.655000	0.94253	GAC		0.488	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		4	61	1	0	0.00024832	0.009096	0.000297984	4	61				
SETD2	29072	broad.mit.edu	37	3	47162475	47162475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr3:47162475C>T	ENST00000409792.3	-	3	3693	c.3651G>A	c.(3649-3651)tgG>tgA	p.W1217*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1217					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGGTCTGTTGCCAAGACTTAT	0.413			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(3649-3651)TGG>TGA		SET domain containing 2							105.0	107.0	106.0					3																	47162475		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162475C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3651G>A	3.37:g.47162475C>T	ENSP00000386759:p.Trp1217*					SETD2_uc003cqv.2_Nonsense_Mutation_p.W1206*	p.W1217*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	3704	-		Acute lymphoblastic leukemia(5;0.0169)	1217					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.3651G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	37	6.009110	0.97195	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.45	1.53	0.23141	.	0.564370	0.16367	N	0.217461	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1156	0.25414	0.0:0.4693:0.3318:0.199	.	.	.	.	X	1217;1217;1217;1173	.	.	W	-	3	0	SETD2	47137479	0.002000	0.14202	1.000000	0.80357	0.684000	0.39900	-0.139000	0.10358	0.399000	0.25367	0.655000	0.94253	TGG		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		22	69	0	0	0	0.00278	0	22	69				
GYG1	2992	broad.mit.edu	37	3	148744703	148744703	+	Missense_Mutation	SNP	G	G	A	rs141679018		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr3:148744703G>A	ENST00000345003.4	+	8	1336	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	GYG1_ENST00000484197.1_Silent_p.L255L|GYG1_ENST00000296048.6_Missense_Mutation_p.D329N|GYG1_ENST00000479119.1_3'UTR	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	346					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGAAACTTGACACTTACCT	0.443																																							uc003ewn.2		NA																	0				ovary(1)	1						c.(1036-1038)GAC>AAC		glycogenin 1							88.0	88.0	88.0					3																	148744703		2203	4300	6503	SO:0001583	missense	2992				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding	g.chr3:148744703G>A	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.1036G>A	3.37:g.148744703G>A	ENSP00000340736:p.Asp346Asn					GYG1_uc003ewo.2_Missense_Mutation_p.D329N|GYG1_uc003ewp.2_Silent_p.L255L	p.D346N	NM_004130	NP_004121	P46976	GLYG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1089	+			346					D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	c.1036G>A	CCDS3139.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891118	0.91889	.	.	ENSG00000163754	ENST00000345003;ENST00000296048	T;T	0.68479	-0.33;-0.32	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.80847	2.515	0.80722	D	1	B;D	0.54964	0.149;0.969	B;P	0.48770	0.192;0.589	T	0.75233	-0.3390	10	0.30854	T	0.27	-28.7818	19.4978	0.95081	0.0:0.0:1.0:0.0	.	329;346	P46976-2;P46976	.;GLYG_HUMAN	N	346;329	ENSP00000340736:D346N;ENSP00000296048:D329N	ENSP00000296048:D329N	D	+	1	0	GYG1	150227393	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.582000	0.82546	2.624000	0.88883	0.655000	0.94253	GAC		0.443	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		13	55	0	0	0	0.004007	0	13	55				
IGF2BP2	10644	broad.mit.edu	37	3	185390422	185390422	+	Silent	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr3:185390422G>A	ENST00000382199.2	-	10	1202	c.1107C>T	c.(1105-1107)agC>agT	p.S369S	IGF2BP2_ENST00000457616.2_Silent_p.S375S|IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000421047.2_Silent_p.S312S|IGF2BP2_ENST00000346192.3_Intron	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	369					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGCCAAGTGCGCTGAGGTTCA	0.577																																							uc003fpo.2		NA																	0					0						c.(1105-1107)AGC>AGT		insulin-like growth factor 2 mRNA binding							75.0	66.0	69.0					3																	185390422		2203	4300	6503	SO:0001819	synonymous_variant	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185390422G>A	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1107C>T	3.37:g.185390422G>A						IGF2BP2_uc010hyi.2_Silent_p.S312S|IGF2BP2_uc010hyj.2_Silent_p.S306S|IGF2BP2_uc010hyk.2_Silent_p.S233S|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Silent_p.S374S	p.S369S	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		10	1186	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		369					A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	c.1107C>T	CCDS3273.2																																																																																				0.577	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		4	30	0	0	0	0.009096	0	4	30				
SLC51A	200931	broad.mit.edu	37	3	195955002	195955002	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr3:195955002T>C	ENST00000296327.5	+	5	588	c.379T>C	c.(379-381)Ttt>Ctt	p.F127L		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	127					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGCCGTGTGCTTTTACCTGCT	0.602																																							uc003fwd.2		NA																	0				ovary(1)	1						c.(379-381)TTT>CTT		organic solute transporter alpha							201.0	203.0	203.0					3																	195955002		2203	4300	6503	SO:0001583	missense	200931					integral to membrane|plasma membrane	transporter activity	g.chr3:195955002T>C		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.379T>C	3.37:g.195955002T>C	ENSP00000296327:p.Phe127Leu					OSTalpha_uc010iac.1_Missense_Mutation_p.F11L|OSTalpha_uc003fwe.2_5'UTR	p.F127L	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)	5	580	+	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		127			Helical; (Potential).		Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	c.379T>C	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325615	0.81580	.	.	ENSG00000163959	ENST00000296327	T	0.31769	1.48	5.11	5.11	0.69529	.	0.000000	0.50627	D	0.000101	T	0.42245	0.1194	M	0.75447	2.3	0.80722	D	1	P	0.42993	0.797	P	0.47827	0.558	T	0.26985	-1.0087	10	0.21014	T	0.42	.	14.2438	0.65975	0.0:0.0:0.0:1.0	.	127	Q86UW1	OSTA_HUMAN	L	127	ENSP00000296327:F127L	ENSP00000296327:F127L	F	+	1	0	AC069257.9	197439399	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.481000	0.53179	2.142000	0.66516	0.533000	0.62120	TTT		0.602	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		4	221	0	0	0	0.009096	0	4	221				
SH3TC1	54436	broad.mit.edu	37	4	8233746	8233746	+	Silent	SNP	C	C	T	rs141442802		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr4:8233746C>T	ENST00000245105.3	+	13	3061	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	SH3TC1_ENST00000539824.1_Silent_p.A922A	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	998										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCTACAGCGCCGTCATGCCCA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12515	0.0		0.0	False		,,,				2504	0.0				NSCLC(145;2298 2623 35616 37297)	NSCLC(145;2298 2623 35616 37297)	uc003gkv.3		NA																	0				large_intestine(2)|pancreas(1)	3						c.(2992-2994)GCC>GCT		SH3 domain and tetratricopeptide repeats 1		C		1,4405	2.1+/-5.4	0,1,2202	73.0	73.0	73.0		2994	-9.8	0.0	4	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	SH3TC1	NM_018986.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		998/1337	8233746	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54436						binding	g.chr4:8233746C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2994C>T	4.37:g.8233746C>T						SH3TC1_uc003gkw.3_Silent_p.A922A|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	p.A998A	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			13	3095	+			998					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.2994C>T	CCDS3399.1																																																																																				0.637	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		28	58	0	0	0	0.00632	0	28	58				
SMARCAD1	56916	broad.mit.edu	37	4	95200144	95200145	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr4:95200144_95200145AC>GA	ENST00000354268.4	+	19	2434_2435	c.2361_2362AC>GA	c.(2359-2364)ttACat>ttGAat	p.H788N	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.H790N|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.H358N			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	788					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATCCTTTATTACATCGCCAATA	0.337																																							uc003htc.3		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2359-2364)TTACAT>TTGAAT		SWI/SNF-related, matrix-associated																																				SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95200144_95200145AC>GA	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	Exception_encountered	4.37:g.95200144_95200145delinsGA	ENSP00000346217:p.His788Asn					SMARCAD1_uc003htb.3_Missense_Mutation_p.H790N|SMARCAD1_uc003htd.3_Missense_Mutation_p.H790N|SMARCAD1_uc010ila.2_Missense_Mutation_p.H653N|SMARCAD1_uc011cdw.1_Missense_Mutation_p.H358N	p.H788N	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	19	2616_2617	+			788					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	DNP	ENST00000354268.4	37	c.2361_2362AC>GA	CCDS3639.1																																																																																				0.337	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		4	26	0	0	0	0.004672	0	4	26				
NFKB1	4790	broad.mit.edu	37	4	103517305	103517305	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr4:103517305C>A	ENST00000505458.1	+	14	1585	c.1308C>A	c.(1306-1308)gaC>gaA	p.D436E	NFKB1_ENST00000394820.4_Missense_Mutation_p.D436E|NFKB1_ENST00000600343.1_Missense_Mutation_p.D256E|NFKB1_ENST00000226574.4_Missense_Mutation_p.D437E			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	436	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GAACCATGGACACTGAATCTA	0.353																																							uc011ceq.1		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(1306-1308)GAC>GAA		nuclear factor kappa-B, subunit 1 isoform 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						77.0	84.0	82.0					4																	103517305		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103517305C>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1308C>A	4.37:g.103517305C>A	ENSP00000424790:p.Asp436Glu					NFKB1_uc011cep.1_Missense_Mutation_p.D437E|NFKB1_uc011cer.1_Missense_Mutation_p.D256E	p.D436E	NM_003998	NP_003989	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	14	1775	+		Hepatocellular(203;0.217)	436			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.1308C>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	2.197	-0.383788	0.04966	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.37058	1.28;1.22;1.22	4.65	3.8	0.43715	.	0.868752	0.10068	N	0.720095	T	0.17238	0.0414	N	0.08118	0	0.22728	N	0.998804	B;B;B	0.22211	0.049;0.039;0.066	B;B;B	0.21708	0.022;0.024;0.036	T	0.28554	-1.0040	10	0.09338	T	0.73	.	7.2065	0.25909	0.0:0.8032:0.0:0.1968	.	256;436;437	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	E	437;436;436	ENSP00000226574:D437E;ENSP00000378297:D436E;ENSP00000424790:D436E	ENSP00000226574:D437E	D	+	3	2	NFKB1	103736343	0.002000	0.14202	0.921000	0.36526	0.084000	0.17831	-0.157000	0.10085	1.304000	0.44892	0.650000	0.86243	GAC		0.353	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			24	48	1	0	8.24728e-16	0.004656	1.03091e-15	24	48				
INPP4B	8821	broad.mit.edu	37	4	143114338	143114338	+	Silent	SNP	G	G	A	rs528311267		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr4:143114338G>A	ENST00000513000.1	-	16	1516	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	INPP4B_ENST00000308502.4_Silent_p.Y361Y|INPP4B_ENST00000262992.4_Silent_p.Y361Y|INPP4B_ENST00000509777.1_Silent_p.Y361Y|INPP4B_ENST00000508116.1_Silent_p.Y361Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	361					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGATGACATCGTAGAGAGCAT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18708	0.001		0.0	False		,,,				2504	0.0						uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(1081-1083)TAC>TAT		inositol polyphosphate-4-phosphatase, type II,							106.0	111.0	109.0					4																	143114338		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143114338G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1083C>T	4.37:g.143114338G>A						INPP4B_uc003iiw.3_Silent_p.Y361Y|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.Y176Y|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.Y232Y	p.Y361Y	NM_003866	NP_003857	O15327	INP4B_HUMAN			16	1678	-	all_hematologic(180;0.158)		361					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.1083C>T	CCDS3757.1																																																																																				0.428	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		19	98	0	0	0	0.007413	0	19	98				
MARCH1	55016	broad.mit.edu	37	4	164507069	164507069	+	Silent	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr4:164507069G>A	ENST00000503008.1	-	6	1231	c.255C>T	c.(253-255)tgC>tgT	p.C85C	MARCH1_ENST00000514618.1_Silent_p.C341C|MARCH1_ENST00000339875.5_Silent_p.C68C|MARCH1_ENST00000274056.7_Silent_p.C85C	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	85					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C68C(1)|p.C85C(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CATCCCCTTCGCAGTGACAGA	0.527																																							uc003iqs.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)	2						c.(253-255)TGC>TGT		membrane-associated RING-CH protein I							55.0	54.0	54.0					4																	164507069		2203	4300	6503	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164507069G>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.255C>T	4.37:g.164507069G>A						MARCH1_uc003iqr.1_Silent_p.C68C	p.C85C	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			6	1232	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	85			RING-CH-type.		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.255C>T	CCDS54814.1																																																																																				0.527	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		10	22	0	0	0	0.006214	0	10	22				
TAP2	6891	broad.mit.edu	37	6	32803014	32803014	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr6:32803014T>C	ENST00000452392.2	-	5	1035	c.862A>G	c.(862-864)Ata>Gta	p.I288V	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Missense_Mutation_p.I288V|TAP2_ENST00000374897.2_Missense_Mutation_p.I288V			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CGAGGCGATATGCTGAGCATG	0.532																																							uc003occ.2		NA																	0					0						c.(862-864)ATA>GTA		transporter 2, ATP-binding cassette, sub-family							129.0	93.0	106.0					6																	32803014		1511	2709	4220	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32803014T>C	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.862A>G	6.37:g.32803014T>C	ENSP00000391806:p.Ile288Val					TAP2_uc011dqf.1_Missense_Mutation_p.I288V|TAP2_uc003ocb.1_Missense_Mutation_p.I288V|TAP2_uc003ocd.2_Missense_Mutation_p.I288V	p.I288V	NM_018833	NP_061313	Q03519	TAP2_HUMAN			4	893	-			288			Lumenal (Potential).|ABC transmembrane type-1.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.862A>G		.	.	.	.	.	.	.	.	.	.	T	10.83	1.460269	0.26248	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.89270	-2.49;-2.49;-2.49	5.3	-0.257	0.12979	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.248870	0.05643	N	0.583879	T	0.50837	0.1639	N	0.04148	-0.265	0.22710	N	0.99883	B;B;B;B	0.15930	0.015;0.003;0.005;0.005	B;B;B;B	0.23716	0.048;0.007;0.003;0.003	T	0.42103	-0.9471	9	0.21540	T	0.41	-1.7446	0.6767	0.00868	0.188:0.2945:0.2231:0.2944	.	288;289;288;288	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	V	288	ENSP00000364034:I288V;ENSP00000364032:I288V;ENSP00000391806:I288V	ENSP00000364032:I288V	I	-	1	0	XXbac-BPG246D15.9;TAP2	32910992	0.110000	0.22057	0.006000	0.13384	0.899000	0.52679	0.475000	0.22164	-0.414000	0.07495	-0.407000	0.06327	ATA		0.532	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		12	29	0	0	0	0.010729	0	12	29				
DAXX	1616	broad.mit.edu	37	6	33286535	33286535	+	Silent	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr6:33286535G>A	ENST00000374542.5	-	8	2412	c.2208C>T	c.(2206-2208)ctC>ctT	p.L736L	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Silent_p.L661L|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000266000.6_Silent_p.L736L	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	736	Interaction with SPOP.|Sumo interaction motif (SIM).				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CAGAGTCTGAGAGCACGATGA	0.498			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																		uc003oec.2		NA		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		0				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(2206-2208)CTC>CTT		death-domain associated protein isoform a							114.0	94.0	101.0					6																	33286535		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33286535G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.2208C>T	6.37:g.33286535G>A						ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.L661L|DAXX_uc011dre.1_Silent_p.L748L|DAXX_uc003oed.2_Silent_p.L736L	p.L736L	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			8	2412	-			736			Interaction with SPOP.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.2208C>T	CCDS4776.1																																																																																				0.498	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			11	39	0	0	0	0.010729	0	11	39				
GSTA2	2939	broad.mit.edu	37	6	52619840	52619840	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr6:52619840A>G	ENST00000493422.1	-	4	328	c.173T>C	c.(172-174)gTt>gCt	p.V58A		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	58	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	ATCAATCTCAACCATTGGCAC	0.413																																							uc003pay.2		NA																	0				ovary(1)	1						c.(172-174)GTT>GCT		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						122.0	120.0	121.0					6																	52619840		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52619840A>G	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.173T>C	6.37:g.52619840A>G	ENSP00000420168:p.Val58Ala						p.V58A	NM_000846	NP_000837	P09210	GSTA2_HUMAN			4	323	-	Lung NSC(77;0.118)		58			GST N-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.173T>C	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	a	17.88	3.498040	0.64186	.	.	ENSG00000244067	ENST00000493422	T	0.08282	3.11	3.64	2.42	0.29668	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.067135	0.64402	D	0.000017	T	0.14184	0.0343	H	0.94503	3.545	0.47276	D	0.999379	B	0.33612	0.419	B	0.43990	0.438	T	0.00271	-1.1859	10	0.87932	D	0	.	8.9186	0.35596	0.8107:0.1892:0.0:0.0	.	58	P09210	GSTA2_HUMAN	A	58	ENSP00000420168:V58A	ENSP00000420168:V58A	V	-	2	0	GSTA2	52727799	1.000000	0.71417	0.973000	0.42090	0.878000	0.50629	8.301000	0.89951	0.293000	0.22520	0.254000	0.18369	GTT		0.413	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		3	97	0	0	0	0.009096	0	3	97				
IBTK	25998	broad.mit.edu	37	6	82933844	82933844	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr6:82933844T>G	ENST00000306270.7	-	7	1433	c.884A>C	c.(883-885)cAt>cCt	p.H295P	IBTK_ENST00000503631.1_Missense_Mutation_p.H295P|IBTK_ENST00000510291.1_Missense_Mutation_p.H295P	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	295					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TAGGACTGTATGAAACCTGCC	0.348																																							uc003pjl.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(883-885)CAT>CCT		inhibitor of Bruton's tyrosine kinase							132.0	125.0	127.0					6																	82933844		2201	4300	6501	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82933844T>G	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.884A>C	6.37:g.82933844T>G	ENSP00000305721:p.His295Pro					IBTK_uc011dyv.1_Missense_Mutation_p.H295P|IBTK_uc011dyw.1_Missense_Mutation_p.H295P|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.H295P	p.H295P	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	7	1411	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	295			RCC1 3.		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.884A>C	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243489	0.79912	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	D;D;D	0.92048	-2.96;-2.96;-2.96	5.2	5.2	0.72013	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.114202	0.64402	D	0.000007	D	0.95971	0.8688	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.998;0.998	D;D;D;D	0.72338	0.977;0.966;0.961;0.966	D	0.96865	0.9635	10	0.87932	D	0	-15.1183	15.0377	0.71761	0.0:0.0:0.0:1.0	.	295;295;295;295	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	P	295	ENSP00000305721:H295P;ENSP00000422762:H295P;ENSP00000426405:H295P	ENSP00000305721:H295P	H	-	2	0	IBTK	82990563	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.661000	0.83786	1.957000	0.56846	0.260000	0.18958	CAT		0.348	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		4	64	0	0	0	0.000602	0	4	64				
HECW1	23072	broad.mit.edu	37	7	43484503	43484503	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr7:43484503G>A	ENST00000395891.2	+	11	2337	c.1732G>A	c.(1732-1734)Gcg>Acg	p.A578T	HECW1_ENST00000453890.1_Missense_Mutation_p.A578T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	578					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGCGGCAGCGCGGCAGAGGA	0.701																																							uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1732-1734)GCG>ACG		NEDD4-like ubiquitin-protein ligase 1							27.0	33.0	31.0					7																	43484503		2135	4234	6369	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484503G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1732G>A	7.37:g.43484503G>A	ENSP00000379228:p.Ala578Thr					HECW1_uc011kbi.1_Missense_Mutation_p.A578T	p.A578T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2337	+			578					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1732G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	3.640	-0.073706	0.07184	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.30182	1.54;1.55	4.98	1.07	0.20283	.	0.944032	0.09012	N	0.861452	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.0;0.001	T	0.35151	-0.9800	10	0.13853	T	0.58	.	9.1896	0.37191	0.305:0.0:0.695:0.0	.	578;578	B4DH42;Q76N89	.;HECW1_HUMAN	T	578	ENSP00000379228:A578T;ENSP00000407774:A578T	ENSP00000265522:A578T	A	+	1	0	HECW1	43451028	0.003000	0.15002	0.004000	0.12327	0.074000	0.17049	1.312000	0.33574	-0.095000	0.12351	0.563000	0.77884	GCG		0.701	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		13	53	0	0	0	0.001855	0	13	53				
EMC2	9694	broad.mit.edu	37	8	109498762	109498762	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr8:109498762G>A	ENST00000220853.3	+	11	864	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	277						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AAGTAAGAAGGAAACCAAATA	0.338																																							uc003ymw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(829-831)GAA>AAA		tetratricopeptide repeat domain 35							68.0	67.0	67.0					8																	109498762		2203	4300	6503	SO:0001583	missense	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109498762G>A	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.829G>A	8.37:g.109498762G>A	ENSP00000220853:p.Glu277Lys						p.E277K	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		11	864	+			277					Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.829G>A	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.39|15.39	2.818081|2.818081	0.50633|0.50633	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000220853|ENST00000519642	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.089712|.	0.85682|.	D|.	0.000000|.	T|T	0.66819|0.66819	0.2828|0.2828	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	B|.	0.17038|.	0.02|.	B|.	0.15052|.	0.012|.	T|T	0.59616|0.59616	-0.7421|-0.7421	9|5	0.15066|.	T|.	0.55|.	-18.1524|-18.1524	20.3747|20.3747	0.98911|0.98911	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	277|.	Q15006|.	TTC35_HUMAN|.	K|E	277|125	.|.	ENSP00000220853:E277K|.	E|G	+|+	1|2	0|0	TTC35|TTC35	109567938|109567938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.542000|8.542000	0.90647|0.90647	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAA|GGA		0.338	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		7	21	0	0	0	0.004482	0	7	21				
KLHL38	340359	broad.mit.edu	37	8	124664255	124664255	+	Silent	SNP	C	C	G			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr8:124664255C>G	ENST00000325995.7	-	1	935	c.912G>C	c.(910-912)ctG>ctC	p.L304L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	304										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTTTGCTGTACAGTAGGACGT	0.557																																							uc003yqs.1		NA																	0					0						c.(910-912)CTG>CTC		kelch-like 38							93.0	97.0	96.0					8																	124664255		2031	4191	6222	SO:0001819	synonymous_variant	340359							g.chr8:124664255C>G		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.912G>C	8.37:g.124664255C>G							p.L304L	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	936	-			304			Kelch 1.		A0PK12	Silent	SNP	ENST00000325995.7	37	c.912G>C	CCDS43766.1																																																																																				0.557	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			3	76	0	0	0	0.004672	0	3	76				
MAGEC3	139081	broad.mit.edu	37	X	140953388	140953388	+	Silent	SNP	C	C	T			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chrX:140953388C>T	ENST00000298296.1	+	2	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	85										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACATACTTCAAGGTAAGGA	0.537																																							uc011mwp.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(253-255)TTC>TTT		melanoma antigen family C, 3 isoform 1							138.0	117.0	124.0					X																	140953388		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140953388C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.255C>T	X.37:g.140953388C>T							p.F85F	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			2	255	+	Acute lymphoblastic leukemia(192;6.56e-05)		85					Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.255C>T	CCDS14676.1																																																																																				0.537	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		6	71	0	0	0	0.001984	0	6	71				
MYO7B	4648	broad.mit.edu	37	2	128367204	128367205	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr2:128367204_128367205insA	ENST00000409816.2	+	22	2970_2971	c.2938_2939insA	c.(2938-2940)tacfs	p.Y980fs	MYO7B_ENST00000428314.1_Frame_Shift_Ins_p.Y980fs|MYO7B_ENST00000389524.4_Frame_Shift_Ins_p.Y980fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	980						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCTGTGACTTACTTCCAGAAA	0.574																																							uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2938-2940)TACfs		myosin VIIB																																				SO:0001589	frameshift_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128367204_128367205insA		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2939dupA	2.37:g.128367205_128367205dupA	ENSP00000386461:p.Tyr980fs						p.Y980fs	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	23	2991_2992	+	Colorectal(110;0.1)		980					Q14786|Q8TEE1	Frame_Shift_Ins	INS	ENST00000409816.2	37	c.2938_2939insA	CCDS46405.1																																																																																				0.574	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		28	80	NA	NA	NA	NA	NA	28	80	---	---	---	---
FEV	54738	broad.mit.edu	37	2	219848978	219848978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr2:219848978delC	ENST00000295727.1	-	2	683	c.102delG	c.(100-102)gggfs	p.G34fs		NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	34					cell differentiation (GO:0030154)|neuron fate specification (GO:0048665)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTCAGCGGCCCCCAGCTCG	0.652			T	"""EWSR1,  FUS"""	Ewing sarcoma																																NSCLC(198;941 2228 4658 24163 34665)	NSCLC(198;941 2228 4658 24163 34665)	uc002vji.1		NA		Dom	yes		2	2q36	54738	T	FEV protein - (HSRNAFEV)			M	EWSR1| FUS		Ewing sarcoma	EWSR1/FEV(10)|FUS/FEV(2)	0				bone(10)|soft_tissue(2)	12						c.(100-102)GGGfs		FEV (ETS oncogene family)							9.0	10.0	10.0					2																	219848978		2191	4295	6486	SO:0001589	frameshift_variant	54738				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:219848978delC		CCDS2428.1	2q36	2008-02-05			ENSG00000163497	ENSG00000163497			18562	protein-coding gene	gene with protein product		607150	"""FEV (fifth Ewing variant)"""			9121764	Standard	NM_017521		Approved	Pet-1	uc002vji.1	Q99581	OTTHUMG00000133080	ENST00000295727.1:c.102delG	2.37:g.219848978delC	ENSP00000295727:p.Gly34fs						p.G34fs	NM_017521	NP_059991	Q99581	FEV_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	684	-		Renal(207;0.0474)	34						Frame_Shift_Del	DEL	ENST00000295727.1	37	c.102delG	CCDS2428.1																																																																																				0.652	FEV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256725.1			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438|rs121913439|rs397517099|rs397517098|rs397517097|rs397517096|rs397517095|rs397517094|rs121913435|rs121913436|rs121913437|rs397509368|rs121913229|rs121913441|rs121913440|rs121913442|rs121913423|rs121913422|rs121913421|rs121913427|rs121913426|rs121913425|rs121913424		TCGA-75-7025-01A-12D-1945-08	TCGA-75-7025-10A-01D-1946-08	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	-	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17e3b2f9-1645-4315-9897-31eb2893345c	dcddb05c-169b-4149-ba9b-840f18bc135d	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaggaattaagagaagca>aaa	p.ELREA746del	EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (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.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(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)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	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		1576	Deletion - In frame(1161)|Complex - deletion inframe(388)|Substitution - Missense(16)|Insertion - In frame(10)|Complex - compound substitution(1)	p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1)	lung(1549)|upper_aerodigestive_tract(9)|salivary_gland(6)|thyroid(3)|large_intestine(2)|breast(2)|ovary(2)|central_nervous_system(1)|prostate(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	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.chr7:55242465_55242479delGGAATTAAGAGAAGC		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.2235_2249delGGAATTAAGAGAAGC	7.37:g.55242465_55242479delGGAATTAAGAGAAGC	ENSP00000275493:p.Glu746_Ala750del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del	p.ELREA746del	NM_005228	NP_005219	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)		19	2481_2495	+	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)		746_750		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2235_2249delGGAATTAAGAGAAGC	CCDS5514.1																																																																																				0.479	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		19	54	NA	NA	NA	NA	NA	19	54	---	---	---	---
