#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
KAZN	23254	broad.mit.edu	37	1	15428142	15428142	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:15428142G>A	ENST00000376030.2	+	11	1945	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	551	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCACCTGGTTGATGGGCGGAT	0.577																																						uc001avm.3																			0					0						c.(1651-1653)GAT>AAT		kazrin isoform E							62.0	45.0	51.0					1																	15428142		2203	4298	6501	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15428142G>A	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1651G>A	1.37:g.15428142G>A	ENSP00000365198:p.Asp551Asn					KAZ_uc001avs.3_5'UTR	p.D551N	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			11	1932	+			551			SAM 2.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.1651G>A	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164743	0.78339	.	.	ENSG00000189337	ENST00000376030	T	0.57595	0.39	4.53	3.59	0.41128	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.168708	0.34178	N	0.004198	T	0.62816	0.2459	M	0.80028	2.48	0.80722	D	1	P	0.47484	0.896	P	0.50934	0.654	T	0.66551	-0.5895	10	0.72032	D	0.01	-12.8022	10.3848	0.44134	0.0:0.2002:0.7998:0.0	.	551	Q674X7	KAZRN_HUMAN	N	551	ENSP00000365198:D551N	ENSP00000365198:D551N	D	+	1	0	KAZN	15300729	1.000000	0.71417	0.061000	0.19648	0.994000	0.84299	8.724000	0.91462	0.864000	0.35578	0.467000	0.42956	GAT		0.577	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
HSPG2	3339	broad.mit.edu	37	1	22206668	22206668	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:22206668C>T	ENST00000374695.3	-	17	2354	c.2275G>A	c.(2275-2277)Ggc>Agc	p.G759S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	759	Laminin EGF-like 1; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GAGCAGGTGCCCAGGTAGGGC	0.577																																						uc001bfj.2																			0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(2275-2277)GGC>AGC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						54.0	56.0	55.0					1																	22206668		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22206668C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2275G>A	1.37:g.22206668C>T	ENSP00000363827:p.Gly759Ser					HSPG2_uc009vqd.2_Missense_Mutation_p.G760S	p.G759S	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	17	2315	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	759			Laminin EGF-like 1; second part.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2275G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304483	0.95601	.	.	ENSG00000142798	ENST00000374695	T	0.79033	-1.23	5.38	5.38	0.77491	EGF-like, laminin (1);	0.000000	0.40640	N	0.001041	D	0.87406	0.6169	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88432	0.3036	10	0.72032	D	0.01	.	16.6294	0.85029	0.0:1.0:0.0:0.0	.	759	P98160	PGBM_HUMAN	S	759	ENSP00000363827:G759S	ENSP00000363827:G759S	G	-	1	0	HSPG2	22079255	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.164000	0.77533	2.527000	0.85204	0.655000	0.94253	GGC		0.577	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
GBP5	115362	broad.mit.edu	37	1	89729595	89729595	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:89729595G>A	ENST00000370459.3	-	8	1313	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	GBP5_ENST00000343435.5_Missense_Mutation_p.R396W|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	396						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCCAGGTTCCGTTTACAAATG	0.378																																						uc001dnc.2																			0				ovary(1)	1						c.(1186-1188)CGG>TGG		guanylate-binding protein 5							144.0	148.0	147.0					1																	89729595		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729595G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1186C>T	1.37:g.89729595G>A	ENSP00000359488:p.Arg396Trp					GBP5_uc001dnd.2_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W	p.R396W	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1723	-			396					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1186C>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483389	0.63962	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02216	4.39;4.39;4.39	5.12	1.87	0.25490	Guanylate-binding protein, C-terminal (3);	0.629498	0.16323	N	0.219453	T	0.02418	0.0074	L	0.49778	1.585	0.09310	N	1	D	0.67145	0.996	P	0.55303	0.773	T	0.35674	-0.9779	10	0.87932	D	0	-0.6986	12.9102	0.58175	0.0:0.0:0.4898:0.5102	.	396	Q96PP8	GBP5_HUMAN	W	396	ENSP00000340396:R396W;ENSP00000359488:R396W;ENSP00000403010:R396W	ENSP00000340396:R396W	R	-	1	2	GBP5	89502183	0.434000	0.25570	0.009000	0.14445	0.005000	0.04900	2.474000	0.45154	0.290000	0.22444	-0.333000	0.08304	CGG		0.378	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942	
AMY2B	280	broad.mit.edu	37	1	104122114	104122114	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:104122114A>C	ENST00000361355.4	+	12	2144	c.1528A>C	c.(1528-1530)Aaa>Caa	p.K510Q	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	510					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGCTGAATCtaaattataaaa	0.284																																						uc001duq.2																			0					0						c.(1528-1530)AAA>CAA		amylase, pancreatic, alpha-2B precursor							90.0	99.0	96.0					1																	104122114		2202	4299	6501	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104122114A>C	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1528A>C	1.37:g.104122114A>C	ENSP00000354610:p.Lys510Gln					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.K510Q|AMY2B_uc001dus.1_Intron	p.K510Q	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	12	2144	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	510					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1528A>C	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.784649	0.70222	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.14	4.14	0.48551	Alpha-amylase, C-terminal all beta (1);Glycosyl hydrolase, family 13, all-beta (1);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81765	-0.0783	9	0.87932	D	0	.	13.1321	0.59389	1.0:0.0:0.0:0.0	.	510	P19961	AMY2B_HUMAN	Q	510	.	ENSP00000354610:K510Q	K	+	1	0	AMY2B	103923637	1.000000	0.71417	0.236000	0.24074	0.861000	0.49209	9.314000	0.96306	1.644000	0.50603	0.477000	0.44152	AAA		0.284	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978	
FCRL3	115352	broad.mit.edu	37	1	157667597	157667597	+	Silent	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:157667597T>C	ENST00000368184.3	-	5	702	c.411A>G	c.(409-411)ggA>ggG	p.G137G	FCRL3_ENST00000368186.5_Silent_p.G137G|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	137	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAAGCTGTTTTCCATCCTTGT	0.363																																						uc001frb.2																			0				ovary(3)|breast(1)	4						c.(409-411)GGA>GGG		Fc receptor-like 3 precursor							174.0	170.0	171.0					1																	157667597		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667597T>C	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.411A>G	1.37:g.157667597T>C						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.G137G|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Silent_p.G137G	p.G137G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			5	703	-	all_hematologic(112;0.0378)		137			Ig-like C2-type 2.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.411A>G	CCDS1167.1																																																																																				0.363	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
ZNF692	55657	broad.mit.edu	37	1	249148230	249148230	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:249148230G>T	ENST00000306601.4	-	10	1225	c.1059C>A	c.(1057-1059)caC>caA	p.H353Q	ZNF692_ENST00000366471.3_Missense_Mutation_p.H308Q|ZNF692_ENST00000451251.1_Missense_Mutation_p.H358Q|ZNF692_ENST00000427146.1_Missense_Mutation_p.H308Q|ZNF692_ENST00000366469.5_Missense_Mutation_p.H352Q|ZNF692_ENST00000468455.1_5'Flank	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCTGGTGGATGTGCTGGTACT	0.512																																						uc001ifc.1																			0					0						c.(1057-1059)CAC>CAA		zinc finger protein 692 isoform 2							106.0	108.0	107.0					1																	249148230		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249148230G>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1059C>A	1.37:g.249148230G>T	ENSP00000305483:p.His353Gln					ZNF692_uc001iez.1_Missense_Mutation_p.H75Q|ZNF692_uc001ifa.1_Missense_Mutation_p.H75Q|ZNF692_uc001ifb.1_Missense_Mutation_p.H149Q|ZNF692_uc001ifd.1_Missense_Mutation_p.H352Q|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.H308Q|ZNF692_uc010pzr.1_Missense_Mutation_p.H358Q	p.H353Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		10	1226	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	353			C2H2-type 1.		B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.1059C>A	CCDS31127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.40|14.40	2.524087|2.524087	0.44866|0.44866	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000476503|ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251	T|T;T;T;T;T	0.26660|0.69806	1.72|-0.43;-0.43;-0.43;-0.43;-0.43	4.28|4.28	-0.898|-0.898	0.10550|0.10550	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000|0.000000	0.52532|0.52532	D|D	0.000062|0.000062	D|D	0.82728|0.82728	0.5100|0.5100	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.998;0.998;1.0;0.999	.|D;D;D;D;D	.|0.87578	.|0.998;0.988;0.988;0.998;0.993	T|T	0.81771|0.81771	-0.0780|-0.0780	8|10	0.87932|0.87932	D|D	0|0	-22.5914|-22.5914	8.3581|8.3581	0.32342|0.32342	0.504:0.0:0.496:0.0|0.504:0.0:0.496:0.0	.|.	.|358;308;181;353;86	.|B4DXZ0;Q9BU19-2;Q9BU19-3;Q9BU19;Q59EV5	.|.;.;.;ZN692_HUMAN;.	N|Q	107|353;308;181;308;352;358	ENSP00000431582:H107N|ENSP00000305483:H353Q;ENSP00000390044:H308Q;ENSP00000355427:H308Q;ENSP00000355425:H352Q;ENSP00000391200:H358Q	ENSP00000431582:H107N|ENSP00000305483:H353Q	H|H	-|-	1|3	0|2	ZNF692|ZNF692	247114853|247114853	0.666000|0.666000	0.27475|0.27475	0.995000|0.995000	0.50966|0.50966	0.587000|0.587000	0.36485|0.36485	-0.045000|-0.045000	0.12003|0.12003	-0.042000|-0.042000	0.13535|0.13535	-0.140000|-0.140000	0.14226|0.14226	CAT|CAC		0.512	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865	
COL17A1	1308	broad.mit.edu	37	10	105823552	105823552	+	Missense_Mutation	SNP	G	G	A	rs531924876		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr10:105823552G>A	ENST00000353479.5	-	11	1081	c.791C>T	c.(790-792)gCg>gTg	p.A264V	COL17A1_ENST00000369733.3_Missense_Mutation_p.A264V|COL17A1_ENST00000393211.3_Missense_Mutation_p.A264V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	264	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGCAGGACGCCATGTTGTT	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20718	0.0		0.0	False		,,,				2504	0.0					uc001kxr.2																			0				ovary(4)|pancreas(1)	5						c.(790-792)GCG>GTG		alpha 1 type XVII collagen							179.0	133.0	149.0					10																	105823552		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105823552G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.791C>T	10.37:g.105823552G>A	ENSP00000340937:p.Ala264Val					COL17A1_uc010qqv.1_Missense_Mutation_p.A248V|COL17A1_uc009xxp.1_Missense_Mutation_p.A264V	p.A264V	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	11	960	-		Colorectal(252;0.103)|Breast(234;0.122)	264			Cytoplasmic (Potential).|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.791C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020990	0.54576	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.55234	0.53;0.53;0.53	5.7	5.7	0.88788	.	0.313739	0.22372	N	0.060928	T	0.59155	0.2173	M	0.64997	1.995	0.48341	D	0.999631	D;P;P	0.54397	0.966;0.839;0.944	P;B;B	0.45712	0.491;0.335;0.296	T	0.64841	-0.6312	10	0.87932	D	0	-2.3984	19.411	0.94673	0.0:0.0:1.0:0.0	.	264;264;264	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	V	264;264;248;264	ENSP00000340937:A264V;ENSP00000358748:A264V;ENSP00000376905:A264V	ENSP00000340937:A264V	A	-	2	0	COL17A1	105813542	1.000000	0.71417	0.906000	0.35671	0.063000	0.16089	6.615000	0.74201	2.689000	0.91719	0.462000	0.41574	GCG		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
OR8H2	390151	broad.mit.edu	37	11	55873034	55873034	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:55873034C>T	ENST00000313503.1	+	1	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACGACTCAAACGTAATTCATC	0.428										HNSCC(53;0.14)																												uc010riy.1																			0				ovary(1)|skin(1)	2						c.(514-516)AAC>AAT		olfactory receptor, family 8, subfamily H,							268.0	242.0	251.0					11																	55873034		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873034C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.516C>T	11.37:g.55873034C>T		HNSCC(53;0.14)					p.N172N	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	516	+	Esophageal squamous(21;0.00693)		172			Extracellular (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.516C>T	CCDS31518.1																																																																																				0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200	
SUV420H1	51111	broad.mit.edu	37	11	67941367	67941370	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:67941367_67941370delAAAT	ENST00000304363.4	-	6	907_910	c.554_557delATTT	c.(553-558)tatttgfs	p.YL185fs	SUV420H1_ENST00000405515.1_Frame_Shift_Del_p.YL185fs|SUV420H1_ENST00000402789.1_Frame_Shift_Del_p.YL185fs|SUV420H1_ENST00000402185.2_Frame_Shift_Del_p.YL162fs|SUV420H1_ENST00000401547.2_Frame_Shift_Del_p.YL185fs	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	185					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAACATTCGCAAATAAATAAATAC	0.319																																						uc001onm.1																			0				ovary(2)|kidney(1)	3						c.(553-558)TATTTGfs		suppressor of variegation 4-20 homolog 1 isoform																																				SO:0001589	frameshift_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941367_67941370delAAAT	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.554_557delATTT	11.37:g.67941375_67941378delAAAT	ENSP00000305899:p.Tyr185fs					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Frame_Shift_Del_p.Y13fs|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Frame_Shift_Del_p.Y185fs|SUV420H1_uc001onp.2_Frame_Shift_Del_p.Y185fs|SUV420H1_uc010rqa.1_Frame_Shift_Del_p.Y162fs|SUV420H1_uc001onq.2_Frame_Shift_Del_p.Y185fs	p.Y185fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			6	810_813	-			185_186					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Frame_Shift_Del	DEL	ENST00000304363.4	37	c.554_557delATTT	CCDS31623.1																																																																																				0.319	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
ADAMTS20	80070	broad.mit.edu	37	12	43770043	43770043	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:43770043A>T	ENST00000389420.3	-	34	5215	c.5216T>A	c.(5215-5217)aTa>aAa	p.I1739K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1739	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAATACCTTTATTATTCTTCC	0.274																																						uc010skx.1																			0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(5215-5217)ATA>AAA		a disintegrin-like and metalloprotease with							79.0	76.0	77.0					12																	43770043		2188	4282	6470	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43770043A>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5216T>A	12.37:g.43770043A>T	ENSP00000374071:p.Ile1739Lys						p.I1739K	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	34	5216	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1739			GON.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.5216T>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629570	0.46944	.	.	ENSG00000173157	ENST00000389420	T	0.20738	2.05	4.74	3.59	0.41128	Peptidase M12B, GON-ADAMTSs (2);	0.413978	0.19945	N	0.102543	T	0.35682	0.0940	M	0.68593	2.085	0.80722	D	1	D	0.53151	0.958	P	0.55161	0.77	T	0.12760	-1.0535	10	0.87932	D	0	.	10.7833	0.46390	0.9237:0.0:0.0763:0.0	.	1739	P59510	ATS20_HUMAN	K	1739	ENSP00000374071:I1739K	ENSP00000374071:I1739K	I	-	2	0	ADAMTS20	42056310	1.000000	0.71417	0.992000	0.48379	0.749000	0.42624	5.639000	0.67868	0.911000	0.36747	0.528000	0.53228	ATA		0.274	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
NCKAP1L	3071	broad.mit.edu	37	12	54913072	54913072	+	Silent	SNP	C	C	T	rs559364211		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:54913072C>T	ENST00000293373.6	+	16	1660	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	NCKAP1L_ENST00000545638.2_Silent_p.S477S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	527					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCTGGACTCCGTAGAAAAAT	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		16019	0.0		0.0	False		,,,				2504	0.001					uc001sgc.3																			0				ovary(3)|central_nervous_system(1)	4						c.(1579-1581)TCC>TCT		NCK-associated protein 1-like							118.0	112.0	114.0					12																	54913072		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54913072C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1581C>T	12.37:g.54913072C>T						NCKAP1L_uc010sox.1_Silent_p.S69S|NCKAP1L_uc010soy.1_Silent_p.S477S	p.S527S	NM_005337	NP_005328	P55160	NCKPL_HUMAN			16	1660	+			527					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.1581C>T	CCDS31813.1																																																																																				0.438	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
PPFIA2	8499	broad.mit.edu	37	12	81688794	81688794	+	Silent	SNP	C	C	T	rs376356533		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:81688794C>T	ENST00000549396.1	-	24	2905	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	PPFIA2_ENST00000550359.2_Silent_p.A762A|PPFIA2_ENST00000407050.4_Silent_p.A841A|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541017.1_Silent_p.A132A|PPFIA2_ENST00000548586.1_Silent_p.A915A|PPFIA2_ENST00000549325.1_Silent_p.A900A|PPFIA2_ENST00000550584.2_Silent_p.A915A|PPFIA2_ENST00000541570.2_Silent_p.A482A|PPFIA2_ENST00000333447.7_Silent_p.A900A|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Silent_p.A816A|PPFIA2_ENST00000552948.1_Silent_p.A915A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	915	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCACGTACCACGCAGGCATTC	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17582	0.0		0.0	False		,,,				2504	0.0					uc001szo.1																			0				ovary(3)|lung(2)|pancreas(1)	6						c.(2743-2745)GCG>GCA		PTPRF interacting protein alpha 2		C	,,,,,,,,	2,4188		0,2,2093	65.0	62.0	63.0		2745,2700,2745,2745,2523,2448,1446,396,2745	-6.5	1.0	12		63	1,8539		0,1,4269	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_001220479.1,NM_001220480.1,NM_003625.3	,,,,,,,,	0,3,6362	TT,TC,CC		0.0117,0.0477,0.0236	,,,,,,,,	915/1248,900/1233,915/1237,915/1252,841/1157,816/1153,482/784,132/444,915/1258	81688794	3,12727	2095	4270	6365	SO:0001819	synonymous_variant	8499							g.chr12:81688794C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2745G>A	12.37:g.81688794C>T						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.A915A	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			24	2906	-			841					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2745G>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.472|5.472	0.272081|0.272081	0.10349|0.10349	4.77E-4|4.77E-4	1.17E-4|1.17E-4	ENSG00000139220|ENSG00000139220	ENST00000550018|ENST00000551147	.|.	.|.	.|.	5.62|5.62	-6.54|-6.54	0.01860|0.01860	.|.	.|.	.|.	.|.	.|.	T|T	0.33059|0.33059	0.0850|0.0850	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43605|0.43605	-0.9381|-0.9381	4|4	.|.	.|.	.|.	-12.4495|-12.4495	0.324|0.324	0.00308|0.00308	0.3072:0.2306:0.2358:0.2264|0.3072:0.2306:0.2358:0.2264	.|.	.|.	.|.	.|.	H|M	49|81	.|.	.|.	R|V	-|-	2|1	0|0	PPFIA2|PPFIA2	80212925|80212925	0.001000|0.001000	0.12720|0.12720	0.972000|0.972000	0.41901|0.41901	0.654000|0.654000	0.38779|0.38779	-1.176000|-1.176000	0.03099|0.03099	-0.724000|-0.724000	0.04908|0.04908	-2.645000|-2.645000	0.00150|0.00150	CGT|GTG		0.403	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
MYO1H	283446	broad.mit.edu	37	12	109843786	109843786	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:109843786C>T	ENST00000431443.2	+	7	861	c.861C>T	c.(859-861)gaC>gaT	p.D287D	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000310903.5_Silent_p.D287D	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	287	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTGAAGAAGACGACCAAGGCT	0.498																																						uc010sxn.1																			0					0						c.(859-861)GAC>GAT		myosin 1H							100.0	92.0	95.0					12																	109843786		1938	4150	6088	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109843786C>T		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.861C>T	12.37:g.109843786C>T							p.D287D	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			7	861	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.861C>T																																																																																					0.498	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
HECTD4	283450	broad.mit.edu	37	12	112703783	112703783	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:112703783C>T	ENST00000430131.2	-	14	2246	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	HECTD4_ENST00000377560.5_Silent_p.E617E|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000550722.1_Silent_p.E655E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	367					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CACTGTTTCTCTCTCCTAACA	0.418																																						uc009zwc.2																			0				ovary(1)|lung(1)	2						c.(1099-1101)GAG>GAA		chromosome 12 open reading frame 51							122.0	103.0	109.0					12																	112703783		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112703783C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1101G>A	12.37:g.112703783C>T						C12orf51_uc010syk.1_Silent_p.E190E|C12orf51_uc001tts.2_Silent_p.E190E|C12orf51_uc001ttt.3_Silent_p.E190E	p.E367E	NM_001109662	NP_001103132					8	1119	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1101G>A																																																																																					0.418	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
DLEU1	10301	broad.mit.edu	37	13	50746904	50746904	+	Intron	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr13:50746904T>C	ENST00000490577.1	+	2	1637							O43261	LEU1_HUMAN	deleted in lymphocytic leukemia 1 (non-protein coding)																		GCACAGAAAATTGCAGAACAT	0.428																																						uc001vej.2																			0					0						c.(679-681)ATT>ACT		SubName: Full=ST13 protein;																																				SO:0001627	intron_variant	145165							g.chr13:50746904T>C	Y15227		13q14.3	2014-07-18	2008-08-13		ENSG00000176124	ENSG00000176124		"""-"""	13747	non-coding RNA	RNA, long non-coding	"""B-cell neoplasia-associated gene with multiple splicing"", ""non-protein coding RNA 21"", ""long intergenic non-protein coding RNA 21"""	605765	"""deleted in lymphocytic leukemia, 1"""	DLB1, BCMS		9395242, 11406609	Standard	NR_109973		Approved	LEU1, XTP6, NCRNA00021, LINC00021, BCMS1		O43261	OTTHUMG00000016934	ENST00000490577.1:c.1637+14692T>C	13.37:g.50746904T>C						DLEU1_uc010adl.1_Intron|DLEU1_uc001vee.1_Intron|DLEU1_uc010adm.1_Intron|DLEU1_uc010adn.1_Intron|DLEU1_uc001vef.1_Intron|DLEU1_uc001veg.1_Intron|DLEU1_uc010tgn.1_Intron|DLEU1_uc001vei.1_Intron|DLEU1_uc010ado.1_Intron|DLEU1_uc010adp.1_Intron	p.I227T	NR_002183						1	751	+								Q547G6|Q8TE10|Q96QY5	Missense_Mutation	SNP	ENST00000490577.1	37	c.680T>C																																																																																					0.428	DLEU1-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000044972.1	NR_002605	
ATP8B4	79895	broad.mit.edu	37	15	50254197	50254197	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr15:50254197C>A	ENST00000284509.6	-	14	1405	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D422Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	422						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTCTTCTGATCCAGGTCATCA	0.264																																						uc001zxu.2																			0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1264-1266)GAT>TAT		ATPase class I type 8B member 4							55.0	54.0	54.0					15																	50254197		2194	4293	6487	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50254197C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1264G>T	15.37:g.50254197C>A	ENSP00000284509:p.Asp422Tyr					ATP8B4_uc010ber.2_Missense_Mutation_p.D295Y|ATP8B4_uc010ufd.1_Missense_Mutation_p.D295Y|ATP8B4_uc010ufe.1_RNA	p.D422Y	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	14	1406	-		all_lung(180;0.00183)	422			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1264G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	6.451	0.451283	0.12223	.	.	ENSG00000104043	ENST00000284509	T	0.63096	-0.02	5.04	-0.13	0.13498	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.167840	0.06206	N	0.684157	T	0.53514	0.1801	L	0.38838	1.175	0.09310	N	1	B	0.18013	0.025	B	0.28784	0.094	T	0.50004	-0.8878	10	0.54805	T	0.06	.	7.849	0.29442	0.0:0.5605:0.0:0.4395	.	422	Q8TF62	AT8B4_HUMAN	Y	422	ENSP00000284509:D422Y	ENSP00000284509:D422Y	D	-	1	0	ATP8B4	48041489	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.111000	0.15458	-0.156000	0.11079	0.591000	0.81541	GAT		0.264	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
ITFG3	83986	broad.mit.edu	37	16	315011	315012	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:315011_315012delGT	ENST00000399932.3	+	13	2100_2101	c.1649_1650delGT	c.(1648-1650)agtfs	p.S550fs	ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000301678.3_Frame_Shift_Del_p.S550fs	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	550						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGGTACCAGAGTGAGGCGTAGA	0.649																																						uc002cgf.2																			0				central_nervous_system(1)	1						c.(1648-1650)AGTfs		integrin alpha FG-GAP repeat containing 3																																				SO:0001589	frameshift_variant	83986					integral to membrane		g.chr16:315011_315012delGT	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1649_1650delGT	16.37:g.315011_315012delGT	ENSP00000382814:p.Ser550fs					ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.2_Frame_Shift_Del_p.S550fs	p.S550fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			13	1844_1845	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	550			Extracellular (Potential).		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Frame_Shift_Del	DEL	ENST00000399932.3	37	c.1649_1650delGT	CCDS10402.1																																																																																				0.649	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039	
UMOD	7369	broad.mit.edu	37	16	20357449	20357449	+	Splice_Site	SNP	G	G	A	rs532447307		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:20357449G>A	ENST00000570689.1	-	5	1327	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000424589.1_Splice_Site_p.T427M|UMOD_ENST00000396134.2_Splice_Site_p.T427M|UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000302509.4_Splice_Site_p.T394M			P07911	UROM_HUMAN	uromodulin	394	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18519	0.001		0.0	False		,,,				2504	0.0					uc002dgz.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(1180-1182)ACG>ATG		uromodulin precursor							32.0	33.0	33.0					16																	20357449		2203	4300	6503	SO:0001630	splice_region_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357449G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1182+1C>T	16.37:g.20357449G>A						UMOD_uc002dha.2_Missense_Mutation_p.T394M|UMOD_uc002dhb.2_Missense_Mutation_p.T427M	p.T394M	NM_003361	NP_003352	P07911	UROM_HUMAN			5	1310	-			394			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1181C>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520286	0.27211	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.85	1.14	0.20703	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.386132	0.22253	N	0.062527	T	0.64461	0.2600	N	0.19112	0.55	0.26258	N	0.978613	B;B	0.30511	0.282;0.153	B;B	0.21546	0.035;0.028	T	0.55496	-0.8132	10	0.48119	T	0.1	-8.2654	4.7982	0.13282	0.2971:0.1786:0.5244:0.0	.	427;394	E9PEA4;P07911	.;UROM_HUMAN	M	394;427;427;394;372;394	ENSP00000379438:T427M;ENSP00000416346:T427M;ENSP00000306279:T394M;ENSP00000379446:T394M	ENSP00000306279:T394M	T	-	2	0	UMOD	20264950	0.970000	0.33590	1.000000	0.80357	0.841000	0.47740	-0.116000	0.10724	0.409000	0.25649	0.491000	0.48974	ACG		0.567	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		Missense_Mutation
NOD2	64127	broad.mit.edu	37	16	50731207	50731209	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:50731207_50731209delTCC	ENST00000300589.2	+	1	158_160	c.53_55delTCC	c.(52-57)gtcctc>gtc	p.L20del	NOD2_ENST00000526417.2_Intron	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	20					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAGCAAGTGTCCTCCTCGGACA	0.601																																						uc002egm.1																			0				ovary(3)|skin(1)	4						c.(52-57)GTCCTC>GTC		nucleotide-binding oligomerization domain																																				SO:0001651	inframe_deletion	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50731207_50731209delTCC	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.53_55delTCC	16.37:g.50731210_50731212delTCC	ENSP00000300589:p.Leu20del					NOD2_uc010cbj.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR	p.L20del	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			1	158_160	+		all_cancers(37;0.0156)	20					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	In_Frame_Del	DEL	ENST00000300589.2	37	c.53_55delTCC	CCDS10746.1																																																																																				0.601	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
ATP2C2	9914	broad.mit.edu	37	16	84472802	84472802	+	Silent	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:84472802G>A	ENST00000262429.4	+	12	1106	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.L339L	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	339					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGAGGGTCTGCCCATCGTCG	0.572																																						uc002fhx.2																			0				breast(1)|central_nervous_system(1)	2						c.(1015-1017)CTG>CTA		ATPase, Ca++ transporting, type 2C, member 2							69.0	76.0	74.0					16																	84472802		2083	4202	6285	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84472802G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1017G>A	16.37:g.84472802G>A						ATP2C2_uc010chj.2_Silent_p.L339L|ATP2C2_uc002fhy.2_Silent_p.L356L|ATP2C2_uc002fhz.2_Silent_p.L188L	p.L339L	NM_014861	NP_055676	O75185	AT2C2_HUMAN			12	1106	+			339			Helical; Name=5; (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.1017G>A	CCDS42207.1																																																																																				0.572	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861	
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					uc002gyy.3																			24	Substitution - Missense(24)		kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)								c.(217-219)CGG>CTG		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu						p.R73L							2	343	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2		
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						uc002omp.3																			1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(7477-7479)GCC>GTC		Fc fragment of IgG binding protein precursor							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7486	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
RAB4B	53916	broad.mit.edu	37	19	41292794	41292794	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41292794G>A	ENST00000594800.1	+	7	728	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.G190R|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.G190R			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	190					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CATTCAGTACGGGGATGCGTC	0.682																																						uc002opd.1																			0				skin(1)	1						c.(568-570)GGG>AGG		ras-related GTP-binding protein 4b							55.0	53.0	54.0					19																	41292794		2203	4300	6503	SO:0001583	missense	53916				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:41292794G>A	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.568G>A	19.37:g.41292794G>A	ENSP00000470246:p.Gly190Arg					RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_RNA|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.G216R	p.G190R	NM_016154	NP_057238	P61018	RAB4B_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	678	+			190					P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.568G>A	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	-	16.07	3.017471	0.54576	.	.	ENSG00000167578	ENST00000357052	T	0.62941	-0.01	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.929	T	0.72590	-0.4247	10	0.56958	D	0.05	.	16.7486	0.85479	0.0:0.0:1.0:0.0	.	225;190	P61018-2;P61018	.;RAB4B_HUMAN	R	190	ENSP00000349560:G190R	ENSP00000349560:G190R	G	+	1	0	RAB4B	45984634	1.000000	0.71417	0.155000	0.22561	0.003000	0.03518	9.367000	0.97148	2.474000	0.83562	0.502000	0.49764	GGG		0.682	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154	
AXL	558	broad.mit.edu	37	19	41726597	41726597	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41726597C>T	ENST00000301178.4	+	2	332	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Missense_Mutation_p.R48W|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	48	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R48W(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CACAGGTGCCCGGGGACTCAC	0.622																																						uc010ehj.2																			1	Substitution - Missense(1)		endometrium(1)	lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(142-144)CGG>TGG		AXL receptor tyrosine kinase isoform 1							30.0	30.0	30.0					19																	41726597		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726597C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.142C>T	19.37:g.41726597C>T	ENSP00000301178:p.Arg48Trp					CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.R48W|AXL_uc010ehk.2_Missense_Mutation_p.R48W	p.R48W	NM_021913	NP_068713	P30530	UFO_HUMAN			2	332	+			48			Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.142C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118142	0.56505	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.66995	-0.24;-0.24	4.59	-0.816	0.10839	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110120	0.35936	N	0.002895	T	0.75004	0.3791	M	0.62266	1.93	0.29131	N	0.879629	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.71080	-0.4696	10	0.72032	D	0.01	-20.2776	11.2407	0.48968	0.6484:0.3516:0.0:0.0	.	48;48	P30530-2;P30530	.;UFO_HUMAN	W	48	ENSP00000301178:R48W;ENSP00000351995:R48W	ENSP00000301178:R48W	R	+	1	2	AXL	46418437	0.988000	0.35896	0.950000	0.38849	0.355000	0.29361	0.008000	0.13197	0.115000	0.18071	0.386000	0.25728	CGG		0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
ERCC1	2067	broad.mit.edu	37	19	45912970	45912970	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:45912970A>G	ENST00000300853.3	-	10	1448	c.857T>C	c.(856-858)tTt>tCt	p.F286S	ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000423698.2_Missense_Mutation_p.F214S|ERCC1_ENST00000589165.1_Missense_Mutation_p.F286S|ERCC1_ENST00000591636.1_Silent_p.L206L|CD3EAP_ENST00000309424.3_3'UTR|ERCC1_ENST00000340192.7_Missense_Mutation_p.F262S|CD3EAP_ENST00000589804.1_3'UTR	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	286	HhH2, dimerization with ERCC4.				cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CAGGACATCAAACAGCCTCCG	0.502								Nucleotide excision repair (NER)																														uc002pbs.1																			0				ovary(2)	2						c.(856-858)TTT>TCT	NER	excision repair cross-complementing 1 isofrom 2							43.0	42.0	43.0					19																	45912970		2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45912970A>G		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.857T>C	19.37:g.45912970A>G	ENSP00000300853:p.Phe286Ser					CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.1_Missense_Mutation_p.F262S|ERCC1_uc002pbu.1_Missense_Mutation_p.F214S	p.F286S	NM_001983	NP_001974	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	10	1003	-		Ovarian(192;0.051)|all_neural(266;0.112)	286					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.857T>C	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375234	0.42105	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698	T;T;T	0.43688	0.94;0.94;0.94	5.25	4.22	0.49857	RuvA domain 2-like (1);Helix-hairpin-helix motif (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);	.	.	.	.	T	0.35480	0.0933	L	0.41824	1.3	0.80722	D	1	B;B;B	0.23249	0.065;0.082;0.082	B;B;B	0.30716	0.022;0.119;0.081	T	0.15037	-1.0451	9	0.54805	T	0.06	.	8.4825	0.33052	0.8275:0.0:0.0:0.1725	.	214;262;286	B3KRR0;Q96S40;P07992	.;.;ERCC1_HUMAN	S	286;262;214	ENSP00000300853:F286S;ENSP00000345203:F262S;ENSP00000394875:F214S	ENSP00000300853:F286S	F	-	2	0	ERCC1	50604810	1.000000	0.71417	0.983000	0.44433	0.761000	0.43186	1.508000	0.35769	0.808000	0.34231	0.459000	0.35465	TTT		0.502	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983	
NCR1	9437	broad.mit.edu	37	19	55420770	55420770	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:55420770G>C	ENST00000291890.4	+	4	560	c.522G>C	c.(520-522)gaG>gaC	p.E174D	NCR1_ENST00000357397.5_Missense_Mutation_p.E67D|NCR1_ENST00000350790.5_Missense_Mutation_p.E79D|NCR1_ENST00000447255.1_Missense_Mutation_p.E174D|NCR1_ENST00000598576.1_Missense_Mutation_p.E162D|NCR1_ENST00000594765.1_Missense_Mutation_p.E174D|NCR1_ENST00000338835.5_Missense_Mutation_p.E174D	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	174	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCCAGGCGGAGTTCCCCCTGG	0.572																																						uc002qib.2																			0				large_intestine(1)|ovary(1)	2						c.(520-522)GAG>GAC		natural cytotoxicity triggering receptor 1							101.0	91.0	94.0					19																	55420770		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420770G>C	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.522G>C	19.37:g.55420770G>C	ENSP00000291890:p.Glu174Asp					NCR1_uc002qic.2_Missense_Mutation_p.E174D|NCR1_uc002qie.2_Missense_Mutation_p.E174D|NCR1_uc002qid.2_Missense_Mutation_p.E79D|NCR1_uc002qif.2_Missense_Mutation_p.E79D|NCR1_uc010esj.2_Missense_Mutation_p.E67D	p.E174D	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	4	560	+			174			Extracellular (Potential).|Ig-like 2.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.522G>C	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365139	0.24684	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09	3.53	-0.037	0.13886	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.008400	0.07978	N	0.985136	T	0.02610	0.0079	L	0.35723	1.085	0.09310	N	1	B;B;B;B;B;B	0.33807	0.007;0.426;0.002;0.294;0.0;0.0	B;B;B;B;B;B	0.35655	0.021;0.124;0.013;0.207;0.005;0.006	T	0.48281	-0.9049	10	0.16420	T	0.52	.	4.041	0.09751	0.235:0.2327:0.5323:0.0	.	67;79;174;79;174;174	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	D	174;174;174;79;67	ENSP00000291890:E174D;ENSP00000404434:E174D;ENSP00000339515:E174D;ENSP00000344358:E79D;ENSP00000349972:E67D	ENSP00000291890:E174D	E	+	3	2	NCR1	60112582	0.037000	0.19845	0.069000	0.20011	0.022000	0.10575	0.002000	0.13061	0.112000	0.17975	-0.216000	0.12614	GAG		0.572	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1		
ALLC	55821	broad.mit.edu	37	2	3743415	3743415	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:3743415G>T	ENST00000252505.3	+	8	782	c.620G>T	c.(619-621)tGt>tTt	p.C207F	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	226					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGGGTGTCTGTGTAGGATTT	0.448										HNSCC(21;0.051)																												uc010ewt.2																			0				central_nervous_system(1)	1						c.(619-621)TGT>TTT		allantoicase isoform a							81.0	81.0	81.0					2																	3743415		1866	4099	5965	SO:0001583	missense	55821						allantoicase activity	g.chr2:3743415G>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.620G>T	2.37:g.3743415G>T	ENSP00000252505:p.Cys207Phe	HNSCC(21;0.051)				ALLC_uc002qyf.2_5'UTR	p.C207F	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	8	781	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	226					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.620G>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832093	0.71258	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.42	5.42	0.78866	Allantoicase domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.86028	2.79	0.58432	D	0.999999	D	0.67145	0.996	D	0.69307	0.963	D	0.85568	0.1232	9	0.66056	D	0.02	-0.0227	16.7056	0.85371	0.0:0.0:1.0:0.0	.	226	Q8N6M5	ALLC_HUMAN	F	207	.	ENSP00000252505:C207F	C	+	2	0	ALLC	3721290	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.246000	0.78247	2.554000	0.86153	0.561000	0.74099	TGT		0.448	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
TMEM182	130827	broad.mit.edu	37	2	103379127	103379133	+	Frame_Shift_Del	DEL	ATTTGGA	ATTTGGA	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:103379127_103379133delATTTGGA	ENST00000412401.2	+	2	419_425	c.214_220delATTTGGA	c.(214-222)atttggaagfs	p.IWK72fs	TMEM182_ENST00000409528.1_5'UTR|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Frame_Shift_Del_p.IWK29fs	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	72						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGACTCCAATATTTGGAAGTTCTGGTA	0.362																																						uc010fjb.2																			0					0						c.(214-222)ATTTGGAAGfs		transmembrane protein 182 precursor																																				SO:0001589	frameshift_variant	130827					integral to membrane		g.chr2:103379127_103379133delATTTGGA	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.214_220delATTTGGA	2.37:g.103379127_103379133delATTTGGA	ENSP00000394178:p.Ile72fs					TMEM182_uc002tcc.3_Frame_Shift_Del_p.I29fs|TMEM182_uc002tcd.3_5'UTR	p.I72fs	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN			2	401_407	+			72_74			Extracellular (Potential).		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Frame_Shift_Del	DEL	ENST00000412401.2	37	c.214_220delATTTGGA	CCDS2064.1																																																																																				0.362	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632	
ITGB6	3694	broad.mit.edu	37	2	161025770	161025770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:161025770C>T	ENST00000283249.2	-	7	1207	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ITGB6_ENST00000409872.1_Missense_Mutation_p.V324M|ITGB6_ENST00000428609.2_Missense_Mutation_p.V282M|ITGB6_ENST00000409967.2_Missense_Mutation_p.V324M|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	324	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAATAACACGTTGTTTTGT	0.294																																						uc002ubh.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(970-972)GTG>ATG		integrin, beta 6 precursor							135.0	131.0	132.0					2																	161025770		2202	4300	6502	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161025770C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.970G>A	2.37:g.161025770C>T	ENSP00000283249:p.Val324Met					ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.V324M|ITGB6_uc010zcq.1_Missense_Mutation_p.V282M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M	p.V324M	NM_000888	NP_000879	P18564	ITB6_HUMAN			7	986	-			324			Extracellular (Potential).|VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.970G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289153	0.59976	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	5.88	3.15	0.36227	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.229842	0.44688	N	0.000428	D	0.92958	0.7759	L	0.39633	1.23	0.42947	D	0.994364	D;D	0.69078	0.997;0.997	P;P	0.60286	0.872;0.872	D	0.91498	0.5217	10	0.66056	D	0.02	.	9.1652	0.37048	0.0:0.7267:0.0:0.2733	.	282;324	E9PEE8;P18564	.;ITB6_HUMAN	M	324;282;324;324	ENSP00000283249:V324M;ENSP00000408024:V282M;ENSP00000386828:V324M;ENSP00000386367:V324M	ENSP00000283249:V324M	V	-	1	0	ITGB6	160734016	0.972000	0.33761	0.240000	0.24138	0.961000	0.63080	1.247000	0.32815	0.405000	0.25532	-0.140000	0.14226	GTG		0.294	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
DNAH7	56171	broad.mit.edu	37	2	196865488	196865488	+	Silent	SNP	G	G	A	rs370258473		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:196865488G>A	ENST00000312428.6	-	12	1393	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	DNAH7_ENST00000410072.1_Silent_p.D431D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	431	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATCATGACGTCATAAACAT	0.338																																						uc002utj.3																			0				skin(10)|ovary(2)	12						c.(1291-1293)GAC>GAT		dynein, axonemal, heavy chain 7		A		1,3665		0,1,1832	163.0	165.0	164.0		1293	-2.8	0.9	2		164	0,8160		0,0,4080	no	coding-synonymous	DNAH7	NM_018897.2		0,1,5912	AA,AG,GG		0.0,0.0273,0.0085		431/4025	196865488	1,11825	1833	4080	5913	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196865488G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1293C>T	2.37:g.196865488G>A							p.D431D	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			12	1394	-			431			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.1293C>T	CCDS42794.1																																																																																				0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						uc002voh.3																			0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(2644-2649)CAGCCC>CCC		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.Q882del	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2697_2699	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
CHGB	1114	broad.mit.edu	37	20	5903131	5903131	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:5903131G>A	ENST00000378961.4	+	4	545	c.341G>A	c.(340-342)gGc>gAc	p.G114D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	114						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GACATCCAAGGCCCAACAAAG	0.607																																						uc002wmg.2																			0				breast(3)|skin(2)|ovary(1)	6						c.(340-342)GGC>GAC		chromogranin B precursor							35.0	37.0	36.0					20																	5903131		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903131G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.341G>A	20.37:g.5903131G>A	ENSP00000368244:p.Gly114Asp					CHGB_uc010zqz.1_Intron	p.G114D	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	647	+			114					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.341G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711362	0.48517	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01821	4.62;4.62	5.24	-0.0597	0.13792	.	1.655590	0.03111	N	0.162434	T	0.02688	0.0081	M	0.62723	1.935	0.09310	N	1	B	0.15719	0.014	B	0.20767	0.031	T	0.48896	-0.8994	10	0.32370	T	0.25	-3.4764	1.3717	0.02212	0.3001:0.1366:0.4227:0.1405	.	114	P05060	SCG1_HUMAN	D	114;94	ENSP00000368244:G114D;ENSP00000416643:G94D	ENSP00000368244:G114D	G	+	2	0	CHGB	5851131	0.002000	0.14202	0.002000	0.10522	0.041000	0.13682	-0.064000	0.11636	-0.169000	0.10834	0.563000	0.77884	GGC		0.607	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
LSM14B	149986	broad.mit.edu	37	20	60697790	60697790	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:60697790G>A	ENST00000279068.6	+	1	228	c.68G>A	c.(67-69)cGc>cAc	p.R23H	LSM14B_ENST00000253001.4_Missense_Mutation_p.R23H|LSM14B_ENST00000370915.1_Missense_Mutation_p.R23H	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	23					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCAGATCCGCTACGAGGGC	0.706																																						uc010gjy.1																			0					0						c.(67-69)CGC>CAC		LSM14 homolog B							53.0	51.0	52.0					20																	60697790		2202	4300	6502	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60697790G>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.68G>A	20.37:g.60697790G>A	ENSP00000279068:p.Arg23His					LSM14B_uc002ybt.2_Missense_Mutation_p.R23H|LSM14B_uc010gjx.1_Missense_Mutation_p.R23H|LSM14B_uc002ybv.2_Missense_Mutation_p.R23H|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank	p.R23H	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		1	274	+	Breast(26;3.97e-09)		23					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.68G>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783750	0.90282	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000400318;ENST00000279069	T;T;T	0.71222	-0.39;-0.55;-0.52	2.91	2.91	0.33838	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	U	0.000000	D	0.84745	0.5540	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.972	D;D;P	0.83275	0.995;0.996;0.895	D	0.87853	0.2659	10	0.87932	D	0	.	13.6799	0.62476	0.0:0.0:1.0:0.0	.	23;23;23	Q9BX40;Q5TBQ0;Q9BX40-2	LS14B_HUMAN;.;.	H	23	ENSP00000279068:R23H;ENSP00000253001:R23H;ENSP00000383172:R23H	ENSP00000253001:R23H	R	+	2	0	LSM14B	60131185	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.988000	0.63863	1.329000	0.45376	0.305000	0.20034	CGC		0.706	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703	
KRTAP19-1	337882	broad.mit.edu	37	21	31852408	31852408	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:31852408G>A	ENST00000390689.2	-	1	255	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TACGATGGGCGGCAGCAGCCA	0.488																																						uc011acx.1																			0					0						c.(229-231)CGC>TGC		keratin associated protein 19-1							157.0	172.0	167.0					21																	31852408		2203	4300	6503	SO:0001583	missense	337882					intermediate filament		g.chr21:31852408G>A	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.229C>T	21.37:g.31852408G>A	ENSP00000375108:p.Arg77Cys						p.R77C	NM_181607	NP_853638	Q8IUB9	KR191_HUMAN			1	229	-			77			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	c.229C>T	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783161	0.16189	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.10860	2.83	4.92	0.754	0.18410	.	0.611706	0.13217	N	0.404631	T	0.07728	0.0194	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.31971	-0.9924	9	0.87932	D	0	.	4.5027	0.11872	0.0831:0.2785:0.4951:0.1432	.	77	Q8IUB9	KR191_HUMAN	C	77;68	ENSP00000375108:R77C	ENSP00000375108:R77C	R	-	1	0	KRTAP19-1	30774279	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.047000	0.14056	0.021000	0.15133	0.591000	0.81541	CGC		0.488	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2		
KRTAP20-2	337976	broad.mit.edu	37	21	32007726	32007726	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:32007726T>A	ENST00000330798.2	+	1	172	c.144T>A	c.(142-144)taT>taA	p.Y48*		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	48						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GCTATGGATATGGCTGCTGCC	0.557																																						uc011adg.1																			0				central_nervous_system(1)	1						c.(142-144)TAT>TAA		keratin associated protein 20-2							184.0	149.0	161.0					21																	32007726		2203	4300	6503	SO:0001587	stop_gained	337976					intermediate filament		g.chr21:32007726T>A	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.144T>A	21.37:g.32007726T>A	ENSP00000330746:p.Tyr48*						p.Y48*	NM_181616	NP_853647	Q3LI61	KR202_HUMAN			1	144	+			48						Nonsense_Mutation	SNP	ENST00000330798.2	37	c.144T>A	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954800	0.34471	.	.	ENSG00000184032	ENST00000330798	.	.	.	4.85	-3.64	0.04515	.	0.210007	0.23384	U	0.048775	.	.	.	.	.	.	0.26145	N	0.980224	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.7201	0.02910	0.1359:0.3388:0.1627:0.3626	.	.	.	.	X	48	.	ENSP00000330746:Y48X	Y	+	3	2	KRTAP20-2	30929597	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.407000	0.07178	-0.763000	0.04658	-1.027000	0.02421	TAT		0.557	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3		
BCL2L13	23786	broad.mit.edu	37	22	18178948	18178948	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:18178948C>T	ENST00000317582.5	+	5	775	c.428C>T	c.(427-429)aCc>aTc	p.T143I	BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000399782.1_Missense_Mutation_p.T143I|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000493680.1_Missense_Mutation_p.T143I|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000337612.5_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ACACTGGAGACCACAGTTCAT	0.383																																						uc002zmw.2																			0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(427-429)ACC>ATC		BCL2-like 13 (apoptosis facilitator)							104.0	102.0	103.0					22																	18178948		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18178948C>T	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.428C>T	22.37:g.18178948C>T	ENSP00000318883:p.Thr143Ile					BCL2L13_uc002zmu.2_Missense_Mutation_p.T143I|BCL2L13_uc002zmv.2_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_Intron	p.T143I	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	5	646	+		all_epithelial(15;0.123)	143					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.428C>T	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918093	0.33815	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680	T;T;T	0.09073	3.02;3.02;3.02	5.79	4.77	0.60923	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.250874	0.41001	D	0.000970	T	0.09642	0.0237	L	0.50919	1.6	0.80722	D	1	B;B	0.20052	0.032;0.041	B;B	0.23716	0.037;0.048	T	0.12016	-1.0564	10	0.16420	T	0.52	-3.9604	13.1368	0.59413	0.0:0.9262:0.0:0.0738	.	143;143	Q9BXK5;Q9BXK5-2	B2L13_HUMAN;.	I	143	ENSP00000382682:T143I;ENSP00000318883:T143I;ENSP00000434764:T143I	ENSP00000318883:T143I	T	+	2	0	BCL2L13	16558948	0.982000	0.34865	0.782000	0.31804	0.972000	0.66771	3.166000	0.50785	1.448000	0.47680	0.655000	0.94253	ACC		0.383	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367	
TMPRSS6	164656	broad.mit.edu	37	22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:37482392C>T	ENST00000346753.3	-	8	1047	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V302I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V302I|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.V311I|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.V302I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	311	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667																																						uc003aqs.1																			0				breast(4)|ovary(1)|skin(1)	6						c.(931-933)GTC>ATC		transmembrane protease, serine 6							28.0	27.0	27.0					22																	37482392		2202	4299	6501	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37482392C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.931G>A	22.37:g.37482392C>T	ENSP00000334962:p.Val311Ile					TMPRSS6_uc003aqt.1_Missense_Mutation_p.V302I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V302I	p.V311I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			8	1045	-			311			CUB 1.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.931G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972292	0.74246	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.55	4.55	0.56014	CUB (1);	0.181737	0.37219	N	0.002199	T	0.64327	0.2588	L	0.34521	1.04	0.43304	D	0.9953	D;D;D	0.76494	0.999;0.995;0.991	P;P;P	0.62089	0.898;0.654;0.452	T	0.67952	-0.5537	10	0.56958	D	0.05	.	16.3113	0.82872	0.0:1.0:0.0:0.0	.	311;302;311	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	I	302;311;302;302;311	ENSP00000371211:V302I;ENSP00000334962:V311I;ENSP00000385453:V302I;ENSP00000384964:V302I;ENSP00000397691:V311I	ENSP00000334962:V311I	V	-	1	0	TMPRSS6	35812338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.185000	0.58330	2.071000	0.62044	0.655000	0.94253	GTC		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
TBC1D22A	25771	broad.mit.edu	37	22	47189513	47189513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:47189513G>A	ENST00000337137.4	+	3	401	c.235G>A	c.(235-237)Gat>Aat	p.D79N	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D79N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D60N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D32N|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D32N	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	79							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGACGACGATGAGCTCCT	0.647																																						uc003bib.2																			0				ovary(1)	1						c.(235-237)GAT>AAT		TBC1 domain family, member 22A							64.0	56.0	59.0					22																	47189513		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47189513G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.235G>A	22.37:g.47189513G>A	ENSP00000336724:p.Asp79Asn					TBC1D22A_uc010haf.2_Missense_Mutation_p.D49N|TBC1D22A_uc003bic.2_Missense_Mutation_p.D79N|TBC1D22A_uc003bie.2_Missense_Mutation_p.D60N|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.D32N	p.D79N	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	3	370	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	79					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.235G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653131	0.67472	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.55052	1.48;0.54;1.51;1.59;1.68	4.7	4.7	0.59300	.	0.048492	0.85682	D	0.000000	T	0.65015	0.2651	M	0.76002	2.32	0.58432	D	0.999995	D;B;D;D	0.65815	0.991;0.209;0.995;0.991	P;B;P;P	0.52957	0.545;0.041;0.714;0.545	T	0.68390	-0.5421	10	0.48119	T	0.1	-1.2791	16.7435	0.85466	0.0:0.0:1.0:0.0	.	79;60;79;79	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	N	79;32;79;60;32	ENSP00000336724:D79N;ENSP00000370383:D32N;ENSP00000384036:D79N;ENSP00000347932:D60N;ENSP00000385634:D32N	ENSP00000336724:D79N	D	+	1	0	TBC1D22A	45568177	1.000000	0.71417	0.036000	0.18154	0.059000	0.15707	8.844000	0.92147	2.591000	0.87537	0.609000	0.83330	GAT		0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
FBLN2	2199	broad.mit.edu	37	3	13672223	13672223	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:13672223G>A	ENST00000295760.7	+	14	2921	c.2852G>A	c.(2851-2853)cGc>cAc	p.R951H	FBLN2_ENST00000535798.1_Missense_Mutation_p.R977H|FBLN2_ENST00000404922.3_Missense_Mutation_p.R998H|FBLN2_ENST00000492059.1_Missense_Mutation_p.R998H	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	951	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAGGCCCAGCGCTGCAGCCAG	0.607																																						uc011avb.1																			0				ovary(1)	1						c.(2851-2853)CGC>CAC		fibulin 2 isoform b precursor							33.0	38.0	36.0					3																	13672223		2196	4299	6495	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13672223G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2852G>A	3.37:g.13672223G>A	ENSP00000295760:p.Arg951His					FBLN2_uc011auz.1_Missense_Mutation_p.R977H|FBLN2_uc011ava.1_Missense_Mutation_p.R998H|FBLN2_uc011avc.1_Missense_Mutation_p.R998H	p.R951H	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		14	2977	+			951			EGF-like 8; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2852G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246645	0.80024	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.87334	-2.23;-2.24;-2.24;-2.24	5.26	3.41	0.39046	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.056380	0.64402	D	0.000001	D	0.86485	0.5944	N	0.13098	0.295	0.43719	D	0.996193	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.72625	0.834;0.978;0.978	D	0.86546	0.1831	10	0.40728	T	0.16	.	14.1161	0.65154	0.0:0.6033:0.3967:0.0	.	951;998;977	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	H	977;998;951;998	ENSP00000445705:R977H;ENSP00000384169:R998H;ENSP00000295760:R951H;ENSP00000420042:R998H	ENSP00000295760:R951H	R	+	2	0	FBLN2	13647224	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.615000	0.61190	1.216000	0.43427	0.561000	0.74099	CGC		0.607	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
ATP11B	23200	broad.mit.edu	37	3	182585181	182585181	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:182585181T>C	ENST00000323116.5	+	15	1897	c.1637T>C	c.(1636-1638)aTt>aCt	p.I546T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	546					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATTGTGTTTATTGGCAATTCT	0.294																																						uc003flb.2																			0				ovary(2)|pancreas(1)	3						c.(1636-1638)ATT>ACT		ATPase, class VI, type 11B							147.0	148.0	148.0					3																	182585181		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182585181T>C	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1637T>C	3.37:g.182585181T>C	ENSP00000321195:p.Ile546Thr					ATP11B_uc003flc.2_Missense_Mutation_p.I130T	p.I546T	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		15	1894	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		546			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.1637T>C	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045749	0.36085	.	.	ENSG00000058063	ENST00000323116	T	0.63255	-0.03	5.41	4.26	0.50523	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.812571	0.11148	N	0.594462	T	0.30792	0.0776	N	0.02247	-0.625	0.50813	D	0.999894	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.36866	-0.9730	10	0.19590	T	0.45	.	3.2148	0.06695	0.1845:0.1517:0.0:0.6638	.	120;546	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	T	546	ENSP00000321195:I546T	ENSP00000321195:I546T	I	+	2	0	ATP11B	184067875	0.996000	0.38824	0.355000	0.25773	0.813000	0.45954	1.128000	0.31369	2.043000	0.60533	0.386000	0.25728	ATT		0.294	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	
CTBP1	1487	broad.mit.edu	37	4	1206064	1206064	+	Silent	SNP	G	G	C	rs369378786		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:1206064G>C	ENST00000290921.6	-	9	1468	c.1287C>G	c.(1285-1287)ccC>ccG	p.P429P	CTBP1_ENST00000382952.3_Silent_p.P418P	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	429					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TATCCGCCTCGGGCTTGACGG	0.692																																						uc003gcv.1																			0				ovary(1)	1						c.(1285-1287)CCC>CCG		C-terminal binding protein 1 isoform 1							13.0	13.0	13.0					4																	1206064		2159	4265	6424	SO:0001819	synonymous_variant	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206064G>C	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1287C>G	4.37:g.1206064G>C						uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.P410P|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcw.2_Silent_p.P104P	p.P429P	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	9	1452	-			429					Q4W5N3|Q7Z2Q5	Silent	SNP	ENST00000290921.6	37	c.1287C>G	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	0.750	-0.773194	0.02951	.	.	ENSG00000159692	ENST00000503594;ENST00000504092	.	.	.	4.7	0.772	0.18510	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24799	-1.0150	4	.	.	.	-17.9647	3.9584	0.09399	0.4801:0.0:0.2309:0.2891	.	.	.	.	G	173;276	.	.	R	-	1	2	CTBP1	1196064	0.808000	0.29022	0.519000	0.27824	0.002000	0.02628	-0.153000	0.10144	0.206000	0.20587	0.491000	0.48974	CGA		0.692	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328	
CLNK	116449	broad.mit.edu	37	4	10515205	10515205	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:10515205C>A	ENST00000226951.6	-	16	1028	c.789G>T	c.(787-789)atG>atT	p.M263I	CLNK_ENST00000515667.1_Start_Codon_SNP_p.M1I	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	263					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AACAGGGCTGCATGCCTCCTC	0.502																																					GBM(87;402 1286 6949 13902 35851)	uc003gmo.3																			0				ovary(1)	1						c.(787-789)ATG>ATT		mast cell immunoreceptor signal transducer							63.0	60.0	61.0					4																	10515205		1994	4179	6173	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10515205C>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.789G>T	4.37:g.10515205C>A	ENSP00000226951:p.Met263Ile						p.M263I	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			16	926	-			263					Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.789G>T	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182248	0.21787	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	T;T	0.71222	1.94;-0.55	4.31	0.564	0.17302	.	2.602760	0.00961	N	0.003100	T	0.58308	0.2113	L	0.32530	0.975	0.09310	N	1	B	0.20368	0.044	B	0.15870	0.014	T	0.26538	-1.0100	10	0.22706	T	0.39	0.6383	5.0084	0.14300	0.0:0.4811:0.3304:0.1885	.	263	Q7Z7G1	CLNK_HUMAN	I	263;1;227	ENSP00000226951:M263I;ENSP00000427256:M1I	ENSP00000226951:M263I	M	-	3	0	CLNK	10124303	0.023000	0.18921	0.000000	0.03702	0.011000	0.07611	0.232000	0.17891	0.050000	0.15949	0.655000	0.94253	ATG		0.502	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964	
EEF1A1P9	441032	broad.mit.edu	37	4	106406491	106406491	+	IGR	DEL	A	A	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:106406491delA								PPA2 (11253 upstream) : AC004066.3 (54855 downstream)																							CAAGGGATGGAAAGTCACCCG	0.532																																						uc003hxt.1																			0					0						c.(499-501)AAAfs		SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment;																																				SO:0001628	intergenic_variant	441032							g.chr4:106406491delA																													4.37:g.106406491delA							p.K167fs	NR_003586						1	629	+									Frame_Shift_Del	DEL		37	c.499delA																																																																																				0	0.532								
DCHS2	54798	broad.mit.edu	37	4	155252747	155252747	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:155252747C>T	ENST00000357232.4	-	10	2352	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	785	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tctcctaattcacagaaCAGA	0.483																																						uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(2353-2355)GAA>AAA		dachsous 2 isoform 1							73.0	58.0	63.0					4																	155252747		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155252747C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2353G>A	4.37:g.155252747C>T	ENSP00000349768:p.Glu785Lys					DCHS2_uc003inx.2_Intron	p.E785K	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	10	2353	-	all_hematologic(180;0.208)	Renal(120;0.0854)	785			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2353G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	1.424	-0.572115	0.03882	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	3.52	2.67	0.31697	Cadherin (2);Cadherin-like (1);	3.081620	0.01358	U	0.012142	T	0.29028	0.0721	N	0.14661	0.345	0.09310	N	0.999999	B	0.14438	0.01	B	0.06405	0.002	T	0.28776	-1.0033	10	0.05959	T	0.93	.	6.5943	0.22664	0.0:0.8691:0.0:0.1309	.	785	Q6V1P9	PCD23_HUMAN	K	785	ENSP00000349768:E785K	ENSP00000349768:E785K	E	-	1	0	DCHS2	155472197	0.005000	0.15991	0.007000	0.13788	0.197000	0.23852	0.149000	0.16243	1.048000	0.40298	0.561000	0.74099	GAA		0.483	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
CTNND2	1501	broad.mit.edu	37	5	11022883	11022883	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:11022883A>C	ENST00000304623.8	-	17	3186	c.2997T>G	c.(2995-2997)gaT>gaG	p.D999E	CTNND2_ENST00000503622.1_Missense_Mutation_p.D662E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.D941E|CTNND2_ENST00000511377.1_Missense_Mutation_p.D908E|CTNND2_ENST00000458100.2_Missense_Mutation_p.D566E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	999					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAACTTACTTATCTCCTTTGC	0.488																																						uc003jfa.1																			0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2995-2997)GAT>GAG		catenin (cadherin-associated protein), delta 2							132.0	115.0	121.0					5																	11022883		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022883A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2997T>G	5.37:g.11022883A>C	ENSP00000307134:p.Asp999Glu					CTNND2_uc010itt.2_Missense_Mutation_p.D908E|CTNND2_uc011cmy.1_Missense_Mutation_p.D662E|CTNND2_uc011cmz.1_Missense_Mutation_p.D566E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D591E	p.D999E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			17	3142	-			999			ARM 9.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2997T>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970924	0.74246	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77489	-1.0;-1.09;-1.0;-1.1;-1.09	5.64	-2.36	0.06663	Armadillo-like helical (1);Armadillo-type fold (1);	0.101221	0.64402	D	0.000003	T	0.78336	0.4267	L	0.28556	0.865	0.58432	D	0.999995	D;D;D	0.64830	0.984;0.984;0.994	D;D;D	0.70716	0.967;0.967;0.97	T	0.76332	-0.2998	10	0.51188	T	0.08	-15.9716	14.708	0.69206	0.1157:0.0:0.8843:0.0	.	662;591;999	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	E	999;941;908;94;566;662	ENSP00000307134:D999E;ENSP00000352661:D941E;ENSP00000426510:D908E;ENSP00000391155:D566E;ENSP00000426887:D662E	ENSP00000307134:D999E	D	-	3	2	CTNND2	11075883	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	1.467000	0.35321	-0.316000	0.08690	-0.250000	0.11733	GAT		0.488	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
PCDHA8	56140	broad.mit.edu	37	5	140222517	140222517	+	Silent	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:140222517G>A	ENST00000531613.1	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A537A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.667																																						uc003lhs.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1609-1611)GCG>GCA		protocadherin alpha 8 isoform 1 precursor							54.0	64.0	61.0					5																	140222517		2194	4269	6463	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222517G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1611G>A	5.37:g.140222517G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A537A	p.A537A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+			537			Cadherin 5.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1611G>A	CCDS54919.1																																																																																				0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
DOCK2	1794	broad.mit.edu	37	5	169122848	169122848	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:169122848G>T	ENST00000256935.8	+	10	965	c.885G>T	c.(883-885)ttG>ttT	p.L295F		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	295					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATTTACTTGATTTGTCAAA	0.463																																						uc003maf.2																			0				ovary(5)|pancreas(2)	7						c.(883-885)TTG>TTT		dedicator of cytokinesis 2							96.0	101.0	99.0					5																	169122848		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169122848G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.885G>T	5.37:g.169122848G>T	ENSP00000256935:p.Leu295Phe					DOCK2_uc011der.1_RNA	p.L295F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	965	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	295					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.885G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.991199	0.54041	.	.	ENSG00000134516	ENST00000256935	T	0.18960	2.18	5.98	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	L	0.46670	1.46	0.80722	D	1	B	0.24920	0.114	B	0.24701	0.055	T	0.03807	-1.1002	10	0.49607	T	0.09	.	12.1092	0.53830	0.1898:0.0:0.8102:0.0	.	295	Q92608	DOCK2_HUMAN	F	295	ENSP00000256935:L295F	ENSP00000256935:L295F	L	+	3	2	DOCK2	169055426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.103000	0.31062	1.544000	0.49359	0.650000	0.86243	TTG		0.463	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
HCRTR2	3062	broad.mit.edu	37	6	55142306	55142306	+	Silent	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr6:55142306A>G	ENST00000370862.3	+	5	1227	c.891A>G	c.(889-891)cgA>cgG	p.R297R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	297					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCAGATCCGAGCCAGAAGGA	0.493																																						uc003pcl.2																			0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(889-891)CGA>CGG		orexin receptor 2							100.0	100.0	100.0					6																	55142306		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142306A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.891A>G	6.37:g.55142306A>G						HCRTR2_uc010jzv.2_RNA	p.R297R	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1206	+	Lung NSC(77;0.107)|Renal(3;0.122)		297			Cytoplasmic (Potential).		Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.891A>G	CCDS4956.1																																																																																				0.493	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
GHRHR	2692	broad.mit.edu	37	7	31016925	31016925	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:31016925C>T	ENST00000326139.2	+	12	1180	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	GHRHR_ENST00000409904.3_Silent_p.F314F|GHRHR_ENST00000409316.1_Missense_Mutation_p.P145S|GHRHR_ENST00000461424.1_Intron	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	378					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TCTACTGCTTCCTCAACCAAG	0.552																																						uc003tbx.2																			0				ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(1132-1134)TTC>TTT		growth hormone releasing hormone receptor	Sermorelin(DB00010)						224.0	194.0	204.0					7																	31016925		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016925C>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1134C>T	7.37:g.31016925C>T						GHRHR_uc003tby.2_Silent_p.F314F|GHRHR_uc003tbz.2_Missense_Mutation_p.P145S	p.F378F	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			12	1182	+			378			Helical; Name=7; (Potential).		Q99863	Silent	SNP	ENST00000326139.2	37	c.1134C>T	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.720579	0.30503	.	.	ENSG00000106128	ENST00000409233;ENST00000409316	.	.	.	5.25	4.16	0.48862	.	.	.	.	.	T	0.47801	0.1465	.	.	.	0.80722	D	1	P	0.46784	0.884	B	0.43155	0.41	T	0.53415	-0.8442	7	0.87932	D	0	.	9.6576	0.39936	0.0:0.89:0.0:0.11	.	145	Q9HB43	.	S	166;145	.	ENSP00000386919:P166S	P	+	1	0	GHRHR	30983450	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.456000	0.35201	2.469000	0.83416	0.645000	0.84053	CCT		0.552	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		
EGFR	1956	broad.mit.edu	37	7	55221781	55221781	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221781C>T	ENST00000275493.2	+	7	1002	c.825C>T	c.(823-825)taC>taT	p.Y275Y	EGFR_ENST00000344576.2_Silent_p.Y275Y|EGFR_ENST00000342916.3_Silent_p.Y275Y|EGFR_ENST00000455089.1_Silent_p.Y230Y|EGFR_ENST00000420316.2_Silent_p.Y275Y|EGFR_ENST00000442591.1_Silent_p.Y275Y|EGFR_ENST00000454757.2_Silent_p.Y222Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	275			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			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)	CCACCACGTACCAGATGGATG	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		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.(823-825)TAC>TAT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						198.0	156.0	170.0					7																	55221781		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:55221781C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.825C>T	7.37:g.55221781C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Silent_p.Y275Y|EGFR_uc003tqi.2_Silent_p.Y275Y|EGFR_uc003tqj.2_Silent_p.Y275Y|EGFR_uc010kzg.1_Silent_p.Y230Y|EGFR_uc011kco.1_Silent_p.Y222Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.Y275Y	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)		7	1071	+	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)		275	Y->A: Strongly reduced autophosphorylation and activation of down-stream kinases; when associated with A-309.		Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.825C>T	CCDS5514.1																																																																																				0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55221796	55221796	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221796C>T	ENST00000275493.2	+	7	1017	c.840C>T	c.(838-840)aaC>aaT	p.N280N	EGFR_ENST00000344576.2_Silent_p.N280N|EGFR_ENST00000342916.3_Silent_p.N280N|EGFR_ENST00000455089.1_Silent_p.N235N|EGFR_ENST00000420316.2_Silent_p.N280N|EGFR_ENST00000442591.1_Silent_p.N280N|EGFR_ENST00000454757.2_Silent_p.N227N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	280			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			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)	TGGATGTGAACCCCGAGGGCA	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		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.(838-840)AAC>AAT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						195.0	154.0	168.0					7																	55221796		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:55221796C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.840C>T	7.37:g.55221796C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Silent_p.N280N|EGFR_uc003tqi.2_Silent_p.N280N|EGFR_uc003tqj.2_Silent_p.N280N|EGFR_uc010kzg.1_Silent_p.N235N|EGFR_uc011kco.1_Silent_p.N227N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.N280N	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)		7	1086	+	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)		280			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.840C>T	CCDS5514.1																																																																																				0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AT	rs149840192		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221821_55221822GC>AT	ENST00000275493.2	+	7	1042_1043	c.865_866GC>AT	c.(865-867)GCc>ATc	p.A289I	EGFR_ENST00000344576.2_Missense_Mutation_p.A289I|EGFR_ENST00000342916.3_Missense_Mutation_p.A289I|EGFR_ENST00000455089.1_Missense_Mutation_p.A244I|EGFR_ENST00000420316.2_Missense_Mutation_p.A289I|EGFR_ENST00000442591.1_Missense_Mutation_p.A289I|EGFR_ENST00000454757.2_Missense_Mutation_p.A236I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289T(3)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		26	Substitution - Missense(26)	p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	central_nervous_system(26)	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.(865-867)GCC>ATC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821_55221822GC>AT		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	Exception_encountered	7.37:g.55221821_55221822delinsAT	ENSP00000275493:p.Ala289Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289I|EGFR_uc003tqi.2_Missense_Mutation_p.A289I|EGFR_uc003tqj.2_Missense_Mutation_p.A289I|EGFR_uc010kzg.1_Missense_Mutation_p.A244I|EGFR_uc011kco.1_Missense_Mutation_p.A236I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289I	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)		7	1111_1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	DNP	ENST00000275493.2	37	c.865_866GC>AT	CCDS5514.1																																																																																				0.589	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
SEMA3E	9723	broad.mit.edu	37	7	82997221	82997221	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:82997221A>C	ENST00000307792.3	-	17	2476	c.2009T>G	c.(2008-2010)tTg>tGg	p.L670W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.L610W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	670					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACTACCTCCAAGGTGATTTT	0.468																																						uc003uhy.1																			0				ovary(3)	3						c.(2008-2010)TTG>TGG		semaphorin 3E precursor							129.0	112.0	118.0					7																	82997221		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997221A>C	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2009T>G	7.37:g.82997221A>C	ENSP00000303212:p.Leu670Trp						p.L670W	NM_012431	NP_036563	O15041	SEM3E_HUMAN			17	2475	-		Medulloblastoma(109;0.109)	670					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2009T>G	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631015	0.87660	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.04809	3.55;3.55	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.25082	0.0609	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01090	-1.1455	10	0.87932	D	0	.	16.0802	0.81001	1.0:0.0:0.0:0.0	.	670	O15041	SEM3E_HUMAN	W	670;610;670	ENSP00000303212:L670W;ENSP00000405052:L610W	ENSP00000303212:L670W	L	-	2	0	SEMA3E	82835157	1.000000	0.71417	0.953000	0.39169	0.960000	0.62799	8.562000	0.90719	2.201000	0.70794	0.477000	0.44152	TTG		0.468	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
ZAN	7455	broad.mit.edu	37	7	100350611	100350611	+	RNA	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:100350611A>G	ENST00000348028.3	+	0	3048				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACAGAAAAACCCACCATCT	0.512																																						uc003uwj.2																			0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2881-2883)AAA>AAG		zonadhesin isoform 3							225.0	263.0	251.0					7																	100350611		1868	4097	5965			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350611A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350611A>G						ZAN_uc003uwk.2_Silent_p.K961K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.K961K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	3048	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		961			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.2883A>G																																																																																					0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
LAMB4	22798	broad.mit.edu	37	7	107706946	107706946	+	Missense_Mutation	SNP	C	C	T	rs148837121		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:107706946C>T	ENST00000388781.3	-	20	2629	c.2546G>A	c.(2545-2547)cGc>cAc	p.R849H	LAMB4_ENST00000205386.4_Missense_Mutation_p.R849H|LAMB4_ENST00000388780.3_Missense_Mutation_p.R849H	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	849	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCCAGGCAGCGATCACAGCG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18951	0.0		0.001	False		,,,				2504	0.0					uc010ljo.1																			0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(2545-2547)CGC>CAC		laminin, beta 4 precursor		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	52.0	54.0		2546	-3.8	0.0	7	dbSNP_134	54	5,8595	4.3+/-15.6	0,5,4295	yes	missense	LAMB4	NM_007356.2	29	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign	849/1762	107706946	6,13000	2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107706946C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2546G>A	7.37:g.107706946C>T	ENSP00000373433:p.Arg849His					LAMB4_uc003vey.2_Missense_Mutation_p.R849H|LAMB4_uc010ljp.1_5'Flank	p.R849H	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			20	2630	-			849			Laminin EGF-like 7.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2546G>A	CCDS34732.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.52	1.962472	0.34659	2.27E-4	5.81E-4	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.64260	-0.09;-0.09;-0.09	4.88	-3.78	0.04333	EGF-like, laminin (4);	1.261530	0.05823	N	0.616059	T	0.54224	0.1845	L	0.49256	1.55	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.47315	-0.9127	10	0.38643	T	0.18	.	11.7958	0.52100	0.1114:0.6806:0.0:0.208	.	849	A4D0S4	LAMB4_HUMAN	H	849	ENSP00000205386:R849H;ENSP00000373433:R849H;ENSP00000373432:R849H	ENSP00000205386:R849H	R	-	2	0	LAMB4	107494182	0.000000	0.05858	0.000000	0.03702	0.721000	0.41392	-0.886000	0.04157	-0.628000	0.05582	-0.471000	0.05019	CGC		0.532	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
KMT2C	58508	broad.mit.edu	37	7	151892993	151892993	+	Splice_Site	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:151892993T>C	ENST00000262189.6	-	28	4595	c.4377A>G	c.(4375-4377)tcA>tcG	p.S1459S	KMT2C_ENST00000355193.2_Splice_Site_p.S1459S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1459					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CATATATACCTGAATGATCAA	0.363																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(4375-4377)TCA>TCG		myeloid/lymphoid or mixed-lineage leukemia 3							65.0	63.0	64.0					7																	151892993		2203	4298	6501	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151892993T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4378+1A>G	7.37:g.151892993T>C						MLL3_uc003wkz.2_Silent_p.S520S	p.S1459S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	28	4596	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1459					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.4377A>G	CCDS5931.1																																																																																				0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Silent
PREX2	80243	broad.mit.edu	37	8	69104577	69104577	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr8:69104577G>A	ENST00000288368.4	+	37	4698	c.4421G>A	c.(4420-4422)aGg>aAg	p.R1474K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1474					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCTAATGAGGCCTCTCAAC	0.413																																						uc003xxv.1																			0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4420-4422)AGG>AAG		DEP domain containing 2 isoform a							84.0	72.0	76.0					8																	69104577		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69104577G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4421G>A	8.37:g.69104577G>A	ENSP00000288368:p.Arg1474Lys						p.R1474K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			37	4448	+			1474					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4421G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735642	0.69189	.	.	ENSG00000046889	ENST00000288368	T	0.60672	0.17	4.89	4.0	0.46444	.	0.060434	0.64402	N	0.000006	T	0.53514	0.1801	L	0.53249	1.67	0.45621	D	0.998556	B	0.06786	0.001	B	0.15052	0.012	T	0.54255	-0.8321	10	0.59425	D	0.04	.	13.8877	0.63719	0.0755:0.0:0.9245:0.0	.	1474	Q70Z35	PREX2_HUMAN	K	1474	ENSP00000288368:R1474K	ENSP00000288368:R1474K	R	+	2	0	PREX2	69267131	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.450000	0.80656	1.160000	0.42584	0.467000	0.42956	AGG		0.413	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
LPAR1	1902	broad.mit.edu	37	9	113704320	113704320	+	Silent	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:113704320A>C	ENST00000374431.3	-	4	557	c.174T>G	c.(172-174)acT>acG	p.T58T	LPAR1_ENST00000374430.2_Silent_p.T58T|LPAR1_ENST00000358883.4_Silent_p.T58T|LPAR1_ENST00000538760.1_Silent_p.T59T|LPAR1_ENST00000541779.1_Silent_p.T59T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	58					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGATACAAACAGTGATTCCAA	0.438																																					NSCLC(115;661 2323 9836 34256)	uc004bfa.2																			0				ovary(2)	2						c.(172-174)ACT>ACG		lysophosphatidic acid receptor 1							116.0	104.0	108.0					9																	113704320		2203	4300	6503	SO:0001819	synonymous_variant	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704320A>C	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.174T>G	9.37:g.113704320A>C						LPAR1_uc011lwm.1_Silent_p.T59T|LPAR1_uc004bfb.2_Silent_p.T58T|LPAR1_uc004bfc.2_Silent_p.T58T|LPAR1_uc011lwn.1_Silent_p.T40T|LPAR1_uc011lwo.1_Silent_p.T59T|LPAR1_uc010mub.2_Silent_p.T58T	p.T58T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			4	429	-			58			Helical; Name=1; (Potential).		B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	37	c.174T>G	CCDS6777.1																																																																																				0.438	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
TRAF1	7185	broad.mit.edu	37	9	123675735	123675735	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:123675735C>T	ENST00000373887.3	-	5	3021	c.576G>A	c.(574-576)ggG>ggA	p.G192G	TRAF1_ENST00000540010.1_Silent_p.G192G|TRAF1_ENST00000546084.1_Silent_p.G70G	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	192					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G192G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612																																						uc004bku.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(574-576)GGG>GGA		TNF receptor-associated factor 1							53.0	45.0	48.0					9																	123675735		2203	4300	6503	SO:0001819	synonymous_variant	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675735C>T	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.576G>A	9.37:g.123675735C>T						TRAF1_uc011lyg.1_Silent_p.G70G|TRAF1_uc010mvl.1_Silent_p.G192G	p.G192G	NM_005658	NP_005649	Q13077	TRAF1_HUMAN			5	1148	-			192					B4DJ77|Q658U1|Q8NF13	Silent	SNP	ENST00000373887.3	37	c.576G>A	CCDS6825.1																																																																																				0.612	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658	
GOLGA1	2800	broad.mit.edu	37	9	127670739	127670739	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:127670739C>T	ENST00000373555.4	-	12	1315	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	328					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AAATTCTGCTCAGCAAGTGTT	0.418																																						uc004bpc.2																			0				ovary(1)	1						c.(982-984)GAG>AAG		golgin 97							116.0	108.0	111.0					9																	127670739		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127670739C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.982G>A	9.37:g.127670739C>T	ENSP00000362656:p.Glu328Lys					GOLGA1_uc010mws.2_RNA	p.E328K	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			12	1324	-			328			Potential.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.982G>A	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034093	0.93575	.	.	ENSG00000136935	ENST00000373555	T	0.75938	-0.98	5.78	5.78	0.91487	.	0.000000	0.47093	D	0.000244	D	0.84469	0.5479	M	0.78801	2.425	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.80176	-0.1491	10	0.10902	T	0.67	-20.5754	16.7408	0.85459	0.0:1.0:0.0:0.0	.	328	Q92805	GOGA1_HUMAN	K	328	ENSP00000362656:E328K	ENSP00000362656:E328K	E	-	1	0	GOLGA1	126710560	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	3.097000	0.50251	2.735000	0.93741	0.650000	0.86243	GAG		0.418	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077	
KCNT1	57582	broad.mit.edu	37	9	138667205	138667205	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:138667205A>C	ENST00000263604.3	+	20	2236	c.2236A>C	c.(2236-2238)Acc>Ccc	p.T746P	KCNT1_ENST00000490355.2_Missense_Mutation_p.T744P|KCNT1_ENST00000491806.2_Missense_Mutation_p.T732P|KCNT1_ENST00000487664.1_Missense_Mutation_p.T720P|KCNT1_ENST00000298480.5_Missense_Mutation_p.T765P|KCNT1_ENST00000371757.2_Missense_Mutation_p.T765P|KCNT1_ENST00000488444.2_Missense_Mutation_p.T746P|KCNT1_ENST00000486577.2_Missense_Mutation_p.T724P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	746					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGCTCCCCAACCCTGTGCCA	0.662																																						uc011mdq.1																			0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2293-2295)ACC>CCC		potassium channel, subfamily T, member 1							87.0	68.0	74.0					9																	138667205		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138667205A>C	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2236A>C	9.37:g.138667205A>C	ENSP00000263604:p.Thr746Pro					KCNT1_uc011mdr.1_Missense_Mutation_p.T592P|KCNT1_uc010nbf.2_Missense_Mutation_p.T720P|KCNT1_uc004cgo.1_Missense_Mutation_p.T514P	p.T765P	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	20	2367	+		Myeloproliferative disorder(178;0.0821)	765					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2293A>C		.	.	.	.	.	.	.	.	.	.	A	22.1	4.243187	0.79912	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	3.61	3.61	0.41365	.	0.000000	0.85682	U	0.000000	D	0.92410	0.7591	M	0.88842	2.985	0.80722	D	1	D;P;D;D	0.69078	0.996;0.956;0.997;0.996	P;P;D;P	0.71184	0.905;0.864;0.972;0.905	D	0.93324	0.6695	10	0.87932	D	0	-42.5919	12.2453	0.54566	1.0:0.0:0.0:0.0	.	732;765;720;746	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	P	720;765;765;724;732;746;744;746	ENSP00000417851:T720P;ENSP00000298480:T765P;ENSP00000360822:T765P;ENSP00000263604:T746P	ENSP00000263604:T746P	T	+	1	0	KCNT1	137807026	1.000000	0.71417	0.783000	0.31826	0.937000	0.57800	6.065000	0.71176	1.282000	0.44496	0.248000	0.18094	ACC		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
SCML2	10389	broad.mit.edu	37	X	18275064	18275064	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:18275064G>A	ENST00000251900.4	-	11	1519	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	SCML2_ENST00000398048.3_Missense_Mutation_p.H190Y	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	454					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGCAGACTGTGGCAGAAGTTC	0.468																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			0					0						c.(1360-1362)CAC>TAC		sex comb on midleg-like 2							155.0	137.0	143.0					X																	18275064		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18275064G>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1360C>T	X.37:g.18275064G>A	ENSP00000251900:p.His454Tyr					SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y	p.H454Y	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			11	1517	-	Hepatocellular(33;0.183)		454					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1360C>T	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326766	0.81690	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.43294	0.95;0.95	5.27	5.27	0.74061	.	0.307314	0.31685	N	0.007231	T	0.62405	0.2425	M	0.72118	2.19	0.58432	D	0.99999	D;D;D	0.65815	0.993;0.995;0.984	P;P;P	0.62560	0.904;0.874;0.904	T	0.63967	-0.6517	10	0.46703	T	0.11	.	18.0173	0.89245	0.0:0.0:1.0:0.0	.	422;190;454	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	Y	454;190;422	ENSP00000251900:H454Y;ENSP00000381126:H190Y	ENSP00000251900:H454Y	H	-	1	0	SCML2	18184985	1.000000	0.71417	0.075000	0.20258	0.631000	0.37964	9.383000	0.97214	2.188000	0.69820	0.513000	0.50165	CAC		0.468	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	
KLHL13	90293	broad.mit.edu	37	X	117054239	117054239	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:117054239A>T	ENST00000262820.3	-	3	1244	c.335T>A	c.(334-336)aTg>aAg	p.M112K	KLHL13_ENST00000539496.1_Missense_Mutation_p.M115K|KLHL13_ENST00000469946.1_Missense_Mutation_p.M61K|KLHL13_ENST00000541812.1_Missense_Mutation_p.M96K|KLHL13_ENST00000371878.1_Missense_Mutation_p.M61K|KLHL13_ENST00000545703.1_Missense_Mutation_p.M70K|KLHL13_ENST00000371882.1_Missense_Mutation_p.M61K|KLHL13_ENST00000540167.1_Missense_Mutation_p.M96K|KLHL13_ENST00000371876.1_Missense_Mutation_p.M61K	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	112	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAGATGCCATCATGACTCT	0.408																																						uc004eql.2																			0				kidney(1)|skin(1)	2						c.(334-336)ATG>AAG		kelch-like 13							193.0	155.0	167.0					X																	117054239		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117054239A>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.335T>A	X.37:g.117054239A>T	ENSP00000262820:p.Met112Lys					KLHL13_uc004eqk.2_Missense_Mutation_p.M61K|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.M106K|KLHL13_uc011mtp.1_Missense_Mutation_p.M114K|KLHL13_uc004eqm.2_Missense_Mutation_p.M61K|KLHL13_uc011mtq.1_Missense_Mutation_p.M96K	p.M112K	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			3	397	-			112			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.335T>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	a	27.8	4.864116	0.91511	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	4.83	4.83	0.62350	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.038197	0.85682	D	0.000000	T	0.77280	0.4107	M	0.68952	2.095	0.80722	D	1	D;P;B;B	0.56521	0.976;0.548;0.228;0.408	P;B;B;P	0.53689	0.732;0.228;0.377;0.511	T	0.80750	-0.1243	10	0.87932	D	0	.	13.5803	0.61898	1.0:0.0:0.0:0.0	.	96;115;106;112	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	K	61;61;61;61;96;96;115;112;70;61	ENSP00000360949:M61K;ENSP00000360943:M61K;ENSP00000360945:M61K;ENSP00000412640:M61K;ENSP00000444450:M96K;ENSP00000441029:M96K;ENSP00000443191:M115K;ENSP00000262820:M112K;ENSP00000440707:M70K;ENSP00000419803:M61K	ENSP00000262820:M112K	M	-	2	0	KLHL13	116938267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.136000	0.94489	1.779000	0.52309	0.438000	0.28831	ATG		0.408	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
