#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
PAFAH2	5051	broad.mit.edu	37	1	26314754	26314754	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr1:26314754C>G	ENST00000374282.3	-	4	488	c.309G>C	c.(307-309)ttG>ttC	p.L103F	PAFAH2_ENST00000493892.1_Intron|PAFAH2_ENST00000374284.1_Missense_Mutation_p.L103F	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	103					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGATGATCAAGGGGTATC	0.517																																						uc001bld.3																			0				ovary(2)	2						c.(307-309)TTG>TTC		platelet-activating factor acetylhydrolase 2							206.0	196.0	200.0					1																	26314754		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26314754C>G	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.309G>C	1.37:g.26314754C>G	ENSP00000363400:p.Leu103Phe					PAFAH2_uc001ble.3_Missense_Mutation_p.L103F	p.L103F	NM_000437	NP_000428	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	4	489	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	103					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.309G>C	CCDS270.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596225	0.86953	.	.	ENSG00000158006	ENST00000374282;ENST00000374284;ENST00000439092;ENST00000441420	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.84	5.84	0.93424	.	0.000000	0.49916	D	0.000134	T	0.78811	0.4342	M	0.81802	2.56	0.46823	D	0.999212	D	0.89917	1.0	D	0.91635	0.999	T	0.80540	-0.1337	10	0.87932	D	0	-14.5118	18.9105	0.92483	0.0:1.0:0.0:0.0	.	103	Q99487	PAFA2_HUMAN	F	103	ENSP00000363400:L103F;ENSP00000363402:L103F;ENSP00000408313:L103F;ENSP00000411011:L103F	ENSP00000363400:L103F	L	-	3	2	PAFAH2	26187341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.659000	0.54489	2.764000	0.94973	0.655000	0.94253	TTG		0.517	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437	
PAFAH2	5051	broad.mit.edu	37	1	26315958	26315958	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr1:26315958C>T	ENST00000374282.3	-	3	404	c.225G>A	c.(223-225)ttG>ttA	p.L75L	PAFAH2_ENST00000493892.1_Intron|PAFAH2_ENST00000374284.1_Silent_p.L75L	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	75					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTGAACAGCAAGCCCCCGC	0.592																																						uc001bld.3																			0				ovary(2)	2						c.(223-225)TTG>TTA		platelet-activating factor acetylhydrolase 2							61.0	63.0	62.0					1																	26315958		2203	4300	6503	SO:0001819	synonymous_variant	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26315958C>T	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.225G>A	1.37:g.26315958C>T						PAFAH2_uc001ble.3_Silent_p.L75L	p.L75L	NM_000437	NP_000428	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	3	405	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	75					D3DPK1|O15458|Q5SY02	Silent	SNP	ENST00000374282.3	37	c.225G>A	CCDS270.1																																																																																				0.592	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437	
HEATR1	55127	broad.mit.edu	37	1	236720633	236720633	+	Silent	SNP	C	C	T	rs138638506	byFrequency	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr1:236720633C>T	ENST00000366582.3	-	37	5331	c.5217G>A	c.(5215-5217)tcG>tcA	p.S1739S	HEATR1_ENST00000366581.2_Silent_p.S1658S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1739					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGTCAGCAACGATGGCATCA	0.498																																						uc001hyd.1																			0				ovary(2)|skin(1)	3						c.(5215-5217)TCG>TCA		protein BAP28		C		1,4405		0,1,2202	65.0	67.0	67.0		5217	-7.7	0.0	1	dbSNP_134	67	4,8596	4.3+/-15.6	0,4,4296	no	coding-synonymous	HEATR1	NM_018072.5		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		1739/2145	236720633	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236720633C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5217G>A	1.37:g.236720633C>T						HEATR1_uc009xgh.1_Silent_p.S901S	p.S1739S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		37	5342	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1739					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.5217G>A	CCDS31066.1																																																																																				0.498	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
RYR2	6262	broad.mit.edu	37	1	237540686	237540686	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr1:237540686G>A	ENST00000366574.2	+	8	844	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R160Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R174Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	176	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.		R -> Q (in ARVD2 and CPVT1). {ECO:0000269|PubMed:11159936, ECO:0000269|PubMed:12106942}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAAAAGTACGAGTTGGAGAT	0.438																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	GRCh37	CM010421	RYR2	M		c.(526-528)CGA>CAA		cardiac muscle ryanodine receptor							138.0	135.0	136.0					1																	237540686		1958	4143	6101	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237540686G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.527G>A	1.37:g.237540686G>A	ENSP00000355533:p.Arg176Gln						p.R176Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	647	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	176		R -> Q (in ARVD2 and CPVT1).	Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.527G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006395	0.93287	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98419	-4.92;-4.92;-4.92	5.17	5.17	0.71159	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.52532	D	0.000068	D	0.98868	0.9617	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	P	0.60415	0.874	D	0.99777	1.1026	10	0.87932	D	0	.	17.8122	0.88619	0.0:0.0:1.0:0.0	.	176	Q92736	RYR2_HUMAN	Q	176;174;160	ENSP00000355533:R176Q;ENSP00000353174:R174Q;ENSP00000443798:R160Q	ENSP00000353174:R174Q	R	+	2	0	RYR2	235607309	1.000000	0.71417	0.214000	0.23707	0.757000	0.42996	9.433000	0.97501	2.577000	0.86979	0.557000	0.71058	CGA		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
CHAT	1103	broad.mit.edu	37	10	50835688	50835688	+	Missense_Mutation	SNP	G	G	A	rs200176236		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:50835688G>A	ENST00000337653.2	+	7	1121	c.968G>A	c.(967-969)cGt>cAt	p.R323H	CHAT_ENST00000395562.2_Missense_Mutation_p.R241H|CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H|CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	323					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.R323H(2)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AATTTCCGCCGTCTCAGTGAG	0.512																																						uc001jhz.2																			2	Substitution - Missense(2)	p.R323H(1)	prostate(1)|central_nervous_system(1)	central_nervous_system(3)	3						c.(967-969)CGT>CAT		choline acetyltransferase isoform 2	Choline(DB00122)						216.0	182.0	194.0					10																	50835688		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835688G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.968G>A	10.37:g.50835688G>A	ENSP00000337103:p.Arg323His					CHAT_uc001jhv.1_Missense_Mutation_p.R205H|CHAT_uc001jhx.1_Missense_Mutation_p.R205H|CHAT_uc001jhy.1_Missense_Mutation_p.R205H|CHAT_uc001jia.2_Missense_Mutation_p.R205H|CHAT_uc010qgs.1_Missense_Mutation_p.R205H	p.R323H	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	7	1121	+		all_neural(218;0.107)	323					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.968G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387473	0.95988	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	0.986;1.0	B;D	0.72338	0.37;0.977	D	0.87755	0.2594	10	0.44086	T	0.13	-10.1192	19.6873	0.95984	0.0:0.0:1.0:0.0	.	205;323	F8W8I2;P28329	.;CLAT_HUMAN	H	205;205;205;323;241;205	ENSP00000343486:R205H;ENSP00000345878:R205H;ENSP00000378926:R205H;ENSP00000337103:R323H;ENSP00000378929:R241H;ENSP00000390521:R205H	ENSP00000337103:R323H	R	+	2	0	CHAT	50505694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.628000	0.83189	2.647000	0.89833	0.579000	0.79373	CGT		0.512	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
TYSND1	219743	broad.mit.edu	37	10	71905207	71905207	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:71905207G>A	ENST00000287078.6	-	1	1135	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	TYSND1_ENST00000494143.1_5'Flank|TYSND1_ENST00000335494.5_Missense_Mutation_p.A379V	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	379	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CAGGACCCTGGCTGCTTCCCG	0.647																																						uc001jqr.2																			0				large_intestine(1)	1						c.(1135-1137)GCC>GTC		trypsin domain containing 1 isoform a							11.0	13.0	13.0					10																	71905207		2191	4279	6470	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905207G>A	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1136C>T	10.37:g.71905207G>A	ENSP00000287078:p.Ala379Val					TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.A379V|TYSND1_uc001jqt.2_Intron	p.A379V	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			1	1290	-			379			Serine protease.		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1136C>T	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361239	0.41801	.	.	ENSG00000156521	ENST00000287078;ENST00000335494	T;T	0.50548	0.74;0.74	4.6	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.810184	0.10849	N	0.627406	T	0.32615	0.0835	N	0.16233	0.39	0.09310	N	1	P;P	0.36909	0.573;0.474	B;B	0.37833	0.168;0.259	T	0.09079	-1.0691	10	0.34782	T	0.22	-15.0688	9.9753	0.41779	0.0:0.0:0.7992:0.2008	.	379;379	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	V	379	ENSP00000287078:A379V;ENSP00000335673:A379V	ENSP00000287078:A379V	A	-	2	0	TYSND1	71575213	0.015000	0.18098	0.087000	0.20705	0.910000	0.53928	1.619000	0.36965	2.371000	0.80710	0.655000	0.94253	GCC		0.647	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555	
ZSWIM8	23053	broad.mit.edu	37	10	75560906	75560906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:75560906C>T	ENST00000605216.1	+	25	5480	c.5263C>T	c.(5263-5265)Ccg>Tcg	p.P1755S	RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.P1752S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P1573S|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P1760S|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P1714S	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1755							zinc ion binding (GO:0008270)										CCTGCGTGCCCCGGCCTTCCA	0.622																																						uc009xrl.2																			0				breast(1)	1						c.(5263-5265)CCG>TCG		hypothetical protein LOC23053							17.0	19.0	18.0					10																	75560906		2124	4235	6359	SO:0001583	missense	23053						zinc ion binding	g.chr10:75560906C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5263C>T	10.37:g.75560906C>T	ENSP00000474748:p.Pro1755Ser					KIAA0913_uc001jve.2_Missense_Mutation_p.P1760S|KIAA0913_uc001jvf.2_Missense_Mutation_p.P1573S|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.P1182S|KIAA0913_uc010qkr.1_Missense_Mutation_p.P1170S|KIAA0913_uc001jvj.2_Missense_Mutation_p.P1147L|KIAA0913_uc009xrn.1_3'UTR	p.P1755S	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			25	5295	+	Prostate(51;0.0112)		1755					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.5263C>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.313071	0.81358	.	.	ENSG00000214655	ENST00000398706	T	0.48201	0.82	5.86	5.86	0.93980	.	.	.	.	.	T	0.72922	0.3521	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.87578	0.998;0.991;0.998;0.998	T	0.74737	-0.3564	8	0.72032	D	0.01	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	1755;1759;1747;1760	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.;.	S	1760	ENSP00000381693:P1760S	ENSP00000381693:P1760S	P	+	1	0	KIAA0913	75230912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.649000	0.83500	2.778000	0.95560	0.655000	0.94253	CCG		0.622	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
PTEN	5728	broad.mit.edu	37	10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-	rs146650273		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:89720799_89720802delTACT	ENST00000371953.3	+	8	2307_2310	c.950_953delTACT	c.(949-954)gtacttfs	p.VL317fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(19)|p.T319fs*1(12)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		91	Deletion - Frameshift(48)|Whole gene deletion(37)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)	endometrium(23)|central_nervous_system(18)|prostate(17)|breast(8)|skin(7)|ovary(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|thyroid(1)|large_intestine(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(949-954)GTACTTfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720799_89720802delTACT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.950_953delTACT	10.37:g.89720803_89720806delTACT	ENSP00000361021:p.Val317fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.V317fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1981_1984	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	317_318			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.950_953delTACT	CCDS31238.1																																																																																				0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CNNM2	54805	broad.mit.edu	37	10	104678301	104678301	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:104678301C>G	ENST00000369878.4	+	1	252	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CNNM2_ENST00000369875.3_Missense_Mutation_p.L22V|CNNM2_ENST00000433628.2_Missense_Mutation_p.L22V	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	22					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGCCGCCGCACTGCCCACTTG	0.687																																						uc001kwm.2																			0				ovary(1)|central_nervous_system(1)	2						c.(64-66)CTG>GTG		cyclin M2 isoform 1							6.0	9.0	8.0					10																	104678301		2004	3980	5984	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104678301C>G	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.64C>G	10.37:g.104678301C>G	ENSP00000358894:p.Leu22Val					CNNM2_uc001kwn.2_Missense_Mutation_p.L22V|CNNM2_uc001kwl.2_Missense_Mutation_p.L22V	p.L22V	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	188	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	22					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.64C>G	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210391	0.39003	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.74842	-0.69;-0.88;-0.69	4.88	4.88	0.63580	.	1.548120	0.04304	N	0.347762	T	0.62998	0.2474	N	0.19112	0.55	0.27957	N	0.936918	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.08055	0.001;0.001;0.003	T	0.50423	-0.8830	10	0.54805	T	0.06	.	6.8822	0.24179	0.0:0.7294:0.1784:0.0922	.	22;22;22	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	V	22	ENSP00000392875:L22V;ENSP00000358891:L22V;ENSP00000358894:L22V	ENSP00000286899:L22V	L	+	1	2	CNNM2	104668291	0.797000	0.28877	1.000000	0.80357	0.998000	0.95712	0.432000	0.21461	2.538000	0.85594	0.555000	0.69702	CTG		0.687	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
OR51F1	256892	broad.mit.edu	37	11	4790251	4790251	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:4790251T>A	ENST00000380383.1	-	1	917	c.918A>T	c.(916-918)aaA>aaT	p.K306N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.K299N			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCGGATTTGTTTTGTTTTTA	0.438																																						uc010qyl.1																			0				ovary(1)|skin(1)	2						c.(895-897)AAA>AAT		olfactory receptor, family 51, subfamily F,							95.0	93.0	94.0					11																	4790251		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790251T>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.918A>T	11.37:g.4790251T>A	ENSP00000369744:p.Lys306Asn						p.K299N	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	897	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	299						Missense_Mutation	SNP	ENST00000380383.1	37	c.897A>T		.	.	.	.	.	.	.	.	.	.	T	10.25	1.299244	0.23650	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.45668	0.89;0.89	5.43	3.05	0.35203	.	0.114281	0.39475	N	0.001349	T	0.50411	0.1614	M	0.85630	2.765	0.28435	N	0.917072	D	0.56287	0.975	P	0.48368	0.575	T	0.54529	-0.8280	10	0.87932	D	0	.	7.45	0.27234	0.0:0.0911:0.1526:0.7562	.	306	A6NGY5	O51F1_HUMAN	N	299;306	ENSP00000345163:K299N;ENSP00000369744:K306N	ENSP00000345163:K299N	K	-	3	2	OR51F1	4746827	0.049000	0.20398	1.000000	0.80357	0.035000	0.12851	-0.072000	0.11486	1.071000	0.40834	0.533000	0.62120	AAA		0.438	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752	
TEAD1	7003	broad.mit.edu	37	11	12901370	12901370	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:12901370C>T	ENST00000526600.1	+	1	381	c.158C>T	c.(157-159)aCc>aTc	p.T53I	TEAD1_ENST00000361905.4_Missense_Mutation_p.T134I|TEAD1_ENST00000527636.1_Missense_Mutation_p.T149I|TEAD1_ENST00000527575.1_Missense_Mutation_p.T149I|TEAD1_ENST00000334310.6_Missense_Mutation_p.T138I|TEAD1_ENST00000361985.2_Missense_Mutation_p.T149I			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	149					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACGCCCGACCTTCCCAGGG	0.612																																						uc001mkj.3																			0					0						c.(400-402)ACC>ATC		TEA domain family member 1							55.0	54.0	54.0					11																	12901370		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12901370C>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.158C>T	11.37:g.12901370C>T	ENSP00000435393:p.Thr53Ile					TEAD1_uc001mkk.3_Missense_Mutation_p.T53I|TEAD1_uc009ygl.2_Missense_Mutation_p.T28I	p.T134I	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	6	1066	+			149			Pro-rich.		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.401C>T		.	.	.	.	.	.	.	.	.	.	C	17.30	3.354618	0.61293	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.63744	0.51;0.51;-0.06;-0.05;0.51;0.5	5.64	5.64	0.86602	.	0.100289	0.64402	D	0.000001	T	0.51007	0.1649	L	0.27053	0.805	0.49483	D	0.999798	P;B;B	0.41748	0.761;0.213;0.018	B;B;B	0.35971	0.215;0.139;0.039	T	0.55283	-0.8165	10	0.48119	T	0.1	.	19.3037	0.94153	0.0:1.0:0.0:0.0	.	138;53;149	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	I	134;149;149;138;149;53	ENSP00000355332:T134I;ENSP00000435233:T149I;ENSP00000435977:T149I;ENSP00000334754:T138I;ENSP00000354588:T149I;ENSP00000435393:T53I	ENSP00000334754:T138I	T	+	2	0	TEAD1	12857946	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.814000	0.86154	2.646000	0.89796	0.655000	0.94253	ACC		0.612	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961	
OR5W2	390148	broad.mit.edu	37	11	55681774	55681774	+	Silent	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:55681774A>G	ENST00000344514.1	-	1	284	c.285T>C	c.(283-285)taT>taC	p.Y95Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y95*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCACAGCCATAGAAGGGTA	0.463																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(283-285)TAT>TAC		olfactory receptor, family 5, subfamily W,							137.0	132.0	134.0					11																	55681774		2201	4296	6497	SO:0001819	synonymous_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681774A>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.285T>C	11.37:g.55681774A>G							p.Y95Y	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	285	-			95			Extracellular (Potential).			Silent	SNP	ENST00000344514.1	37	c.285T>C	CCDS31513.1																																																																																				0.463	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
OR5M3	219482	broad.mit.edu	37	11	56237921	56237921	+	Missense_Mutation	SNP	C	C	T	rs142752109		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:56237921C>T	ENST00000312240.2	-	1	93	c.53G>A	c.(52-54)cGt>cAt	p.R18H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R18H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATTCTCGACGGCTCGTTAG	0.398																																						uc010rjk.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(52-54)CGT>CAT		olfactory receptor, family 5, subfamily M,		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	79.0	69.0	72.0		53	-10.0	0.0	11	dbSNP_134	72	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR5M3	NM_001004742.2	29	0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154	benign	18/308	56237921	2,12990	2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237921C>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.53G>A	11.37:g.56237921C>T	ENSP00000312208:p.Arg18His						p.R18H	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	53	-	Esophageal squamous(21;0.00448)		18			Extracellular (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.53G>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	0.456	-0.891453	0.02491	2.27E-4	1.16E-4	ENSG00000174937	ENST00000312240	T	0.01084	5.36	5.0	-10.0	0.00425	.	1.480890	0.04545	N	0.388897	T	0.00815	0.0027	N	0.11673	0.155	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40646	-0.9552	10	0.27785	T	0.31	3.2324	13.3653	0.60680	0.0:0.1922:0.139:0.6688	.	18	Q8NGP4	OR5M3_HUMAN	H	18	ENSP00000312208:R18H	ENSP00000312208:R18H	R	-	2	0	OR5M3	55994497	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-8.692000	0.00017	-3.524000	0.00147	-1.708000	0.00717	CGT		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
CD248	57124	broad.mit.edu	37	11	66084085	66084085	+	Silent	SNP	G	G	A	rs375088730		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:66084085G>A	ENST00000311330.3	-	1	430	c.414C>T	c.(412-414)ggC>ggT	p.G138G	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	138	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						AGCGGTGCTCGCCACTTGCCT	0.706																																						uc001ohm.1																			0				large_intestine(3)	3						c.(412-414)GGC>GGT		tumor endothelial marker 1 precursor	Cefalotin(DB00456)	G		1,4347		0,1,2173	18.0	17.0	17.0		414	-6.4	0.0	11		17	0,8504		0,0,4252	no	coding-synonymous	CD248	NM_020404.2		0,1,6425	AA,AG,GG		0.0,0.023,0.0078		138/758	66084085	1,12851	2174	4252	6426	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084085G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.414C>T	11.37:g.66084085G>A							p.G138G	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	431	-			138			C-type lectin.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.414C>T	CCDS8134.1																																																																																				0.706	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404	
C1S	716	broad.mit.edu	37	12	7177424	7177424	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr12:7177424G>A	ENST00000406697.1	+	15	2164	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	C1S_ENST00000328916.3_Silent_p.P512P|C1S_ENST00000402681.3_Silent_p.P345P|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Silent_p.P512P			P09871	C1S_HUMAN	complement component 1, s subcomponent	512	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTATTCATCCGGGATGGAAGC	0.507																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2																			0				skin(1)	1						c.(1534-1536)CCG>CCA		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						58.0	56.0	57.0					12																	7177424		2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177424G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1536G>A	12.37:g.7177424G>A						C1S_uc001qsk.2_Silent_p.P512P|C1S_uc001qsl.2_Silent_p.P512P|C1S_uc009zfr.2_Silent_p.P345P|C1S_uc009zfs.2_RNA	p.P512P	NM_201442	NP_958850	P09871	C1S_HUMAN			15	2255	+			512			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.1536G>A	CCDS31735.1																																																																																				0.507	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
A2M	2	broad.mit.edu	37	12	9254170	9254170	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr12:9254170T>C	ENST00000318602.7	-	12	1674	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	456					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GACAAAGCTCTTGCTTGGGGA	0.507																																						uc001qvk.1																			0				central_nervous_system(4)|skin(1)	5						c.(1366-1368)AAG>AGG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						101.0	101.0	101.0					12																	9254170		1991	4185	6176	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9254170T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1367A>G	12.37:g.9254170T>C	ENSP00000323929:p.Lys456Arg					A2M_uc009zgk.1_Missense_Mutation_p.K306R	p.K456R	NM_000014	NP_000005	P01023	A2MG_HUMAN			12	1480	-			456					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1367A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	9.866	1.197732	0.22037	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29142	1.58	5.69	4.01	0.46588	.	0.759825	0.12509	N	0.462602	T	0.19725	0.0474	L	0.28192	0.835	0.24533	N	0.994105	B	0.14012	0.009	B	0.10450	0.005	T	0.31364	-0.9946	10	0.16420	T	0.52	.	7.7374	0.28823	0.0:0.2295:0.0:0.7705	.	456	P01023	A2MG_HUMAN	R	456;471	ENSP00000323929:K456R	ENSP00000323929:K456R	K	-	2	0	A2M	9145437	0.293000	0.24371	0.983000	0.44433	0.395000	0.30598	0.761000	0.26489	0.640000	0.30582	0.533000	0.62120	AAG		0.507	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
KRT74	121391	broad.mit.edu	37	12	52964563	52964563	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr12:52964563C>T	ENST00000305620.2	-	5	945	c.898G>A	c.(898-900)Gac>Aac	p.D300N	KRT74_ENST00000549343.1_Missense_Mutation_p.D300N	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	300	Linker 12.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGGTTGTTGTCCATGGACAGG	0.572																																						uc001sap.1																			0				ovary(1)|skin(1)	2						c.(898-900)GAC>AAC		keratin 6 irs4							126.0	94.0	105.0					12																	52964563		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52964563C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.898G>A	12.37:g.52964563C>T	ENSP00000307240:p.Asp300Asn						p.D300N	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	5	946	-			300			Rod.|Linker 12.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.898G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336065	0.95758	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.90197	-2.63;-2.63	4.49	4.49	0.54785	Filament (1);	0.000000	0.37393	N	0.002109	D	0.96981	0.9014	H	0.96943	3.91	0.58432	D	0.99999	D	0.67145	0.996	D	0.70016	0.967	D	0.98505	1.0616	10	0.87932	D	0	.	18.0947	0.89485	0.0:1.0:0.0:0.0	.	300	Q7RTS7	K2C74_HUMAN	N	300	ENSP00000447447:D300N;ENSP00000307240:D300N	ENSP00000307240:D300N	D	-	1	0	KRT74	51250830	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.773000	0.85462	2.443000	0.82685	0.655000	0.94253	GAC		0.572	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
FLT3	2322	broad.mit.edu	37	13	28644701	28644701	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr13:28644701G>A	ENST00000241453.7	-	2	173	c.92C>T	c.(91-93)cCt>cTt	p.P31L	FLT3_ENST00000380982.4_Missense_Mutation_p.P31L|FLT3_ENST00000537084.1_Missense_Mutation_p.P31L	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	31					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P31L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGATCACAGGCAGATCTTG	0.299			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)	p.P31L(1)	central_nervous_system(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(91-93)CCT>CTT		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						83.0	76.0	78.0					13																	28644701		2203	4299	6502	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28644701G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.92C>T	13.37:g.28644701G>A	ENSP00000241453:p.Pro31Leu					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.P31L	p.P31L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	2	174	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	31			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.92C>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048158	0.36181	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77358	-1.02;-1.09;-0.82	4.88	4.03	0.46877	.	0.244211	0.29579	N	0.011756	T	0.59905	0.2228	N	0.17082	0.46	0.40885	D	0.984028	B;B	0.21606	0.058;0.034	B;B	0.18561	0.022;0.006	T	0.58923	-0.7550	10	0.40728	T	0.16	.	8.1457	0.31110	0.1072:0.0:0.8928:0.0	.	31;31	P36888-2;P36888	.;FLT3_HUMAN	L	31	ENSP00000241453:P31L;ENSP00000370369:P31L;ENSP00000438139:P31L	ENSP00000241453:P31L	P	-	2	0	FLT3	27542701	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.230000	0.51286	2.265000	0.75225	0.563000	0.77884	CCT		0.299	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
C14orf183	196913	broad.mit.edu	37	14	50550652	50550652	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:50550652C>T	ENST00000305273.1	-	5	691	c.692G>A	c.(691-693)cGc>cAc	p.R231H	RP11-58E21.7_ENST00000556019.2_lincRNA|RP11-58E21.5_ENST00000603228.1_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	231										endometrium(2)|large_intestine(2)|lung(3)	7						CTCTTGGAGGCGAGGTGGGGC	0.662																																						uc010tqk.1																			0					0						c.(691-693)CGC>CAC		hypothetical protein LOC196913							11.0	12.0	12.0					14																	50550652		1841	4036	5877	SO:0001583	missense	196913							g.chr14:50550652C>T	AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.692G>A	14.37:g.50550652C>T	ENSP00000303234:p.Arg231His						p.R231H	NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN			5	692	-			231						Missense_Mutation	SNP	ENST00000305273.1	37	c.692G>A	CCDS45101.1	.	.	.	.	.	.	.	.	.	.	c	9.871	1.198981	0.22121	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.4	-6.8	0.01709	.	.	.	.	.	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23619	-1.0183	8	0.87932	D	0	.	2.5502	0.04747	0.1247:0.2534:0.1077:0.5141	.	231	Q8WXQ3	CN183_HUMAN	H	231	.	ENSP00000303234:R231H	R	-	2	0	C14orf183	49620402	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.968000	0.00323	-2.097000	0.00851	-1.038000	0.02383	CGC		0.662	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1	NM_001014830	
GPR65	8477	broad.mit.edu	37	14	88478002	88478002	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:88478002A>T	ENST00000267549.3	+	2	1369	c.811A>T	c.(811-813)Atg>Ttg	p.M271L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	271					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AACTTACACAATGTATAGAAT	0.383																																						uc001xvv.2																			0					0						c.(811-813)ATG>TTG		G protein-coupled receptor 65							111.0	102.0	105.0					14																	88478002		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88478002A>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.811A>T	14.37:g.88478002A>T	ENSP00000267549:p.Met271Leu						p.M271L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	1341	+			271			Extracellular (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.811A>T	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	A	4.555	0.103079	0.08731	.	.	ENSG00000140030	ENST00000267549	T	0.32753	1.44	5.98	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	1.335400	0.05334	N	0.528888	T	0.18425	0.0442	N	0.10874	0.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23976	-1.0173	10	0.38643	T	0.18	.	7.1933	0.25839	0.6094:0.2302:0.1605:0.0	.	271	Q8IYL9	PSYR_HUMAN	L	271	ENSP00000267549:M271L	ENSP00000267549:M271L	M	+	1	0	GPR65	87547755	.	.	0.010000	0.14722	0.871000	0.50021	.	.	0.497000	0.27926	0.528000	0.53228	ATG		0.383	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4		
SERPINA1	5265	broad.mit.edu	37	14	94845837	94845837	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:94845837G>A	ENST00000448921.1	-	6	1601	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	SERPINA1_ENST00000393088.4_Silent_p.S343S|SERPINA1_ENST00000393087.4_Silent_p.S343S|SERPINA1_ENST00000355814.4_Silent_p.S343S|SERPINA1_ENST00000440909.1_Silent_p.S343S|SERPINA1_ENST00000402629.1_Silent_p.S343S|SERPINA1_ENST00000449399.3_Silent_p.S343S|SERPINA1_ENST00000404814.4_Silent_p.S343S|SERPINA1_ENST00000437397.1_Silent_p.S343S	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	343					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTGTGACCCCGGAGAGGTCAG	0.542																																						uc001ycx.3																			0				skin(1)	1						c.(1027-1029)TCC>TCT		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)						126.0	118.0	121.0					14																	94845837		2203	4300	6503	SO:0001819	synonymous_variant	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94845837G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1029C>T	14.37:g.94845837G>A						SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.S343S|SERPINA1_uc010aux.2_Silent_p.S343S|SERPINA1_uc001ycy.3_Silent_p.S343S|SERPINA1_uc010auy.2_Silent_p.S343S|SERPINA1_uc001ycz.3_Silent_p.S343S|SERPINA1_uc010auz.2_Silent_p.S343S|SERPINA1_uc010ava.2_Silent_p.S343S|SERPINA1_uc001ydb.3_Silent_p.S343S|SERPINA1_uc010avb.2_Silent_p.S343S|SERPINA1_uc001ydc.3_Silent_p.S343S|SERPINA1_uc001yda.1_Silent_p.S343S	p.S343S	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1290	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	343					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.1029C>T	CCDS9925.1																																																																																				0.542	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
TCL1B	9623	broad.mit.edu	37	14	96152931	96152931	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:96152931C>T	ENST00000340722.7	+	1	178	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	43										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CAATCCCTCGCGTAGGGAATG	0.672																																						uc001yez.2																			0				ovary(1)	1						c.(127-129)CGT>TGT		T-cell leukemia/lymphoma 1B							72.0	65.0	67.0					14																	96152931		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96152931C>T	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.127C>T	14.37:g.96152931C>T	ENSP00000343223:p.Arg43Cys					TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.R43C	p.R43C	NM_004918	NP_004909	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	169	+		all_cancers(154;0.103)	43					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.127C>T	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	C	7.767	0.706544	0.15239	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.31769	1.48	2.75	-1.25	0.09405	.	.	.	.	.	T	0.17831	0.0428	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.21655	-1.0239	9	0.54805	T	0.06	.	6.1012	0.20049	0.0:0.4289:0.0:0.5711	.	43	O95988	TCL1B_HUMAN	C	43	ENSP00000343223:R43C	ENSP00000343223:R43C	R	+	1	0	TCL1B	95222684	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.041000	0.13927	-0.311000	0.08754	0.305000	0.20034	CGT		0.672	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2		
AHNAK2	113146	broad.mit.edu	37	14	105420774	105420774	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:105420774C>T	ENST00000333244.5	-	7	1133	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	338						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGTCCTGTCGATGAAGGGC	0.667																																						uc010axc.1																			0				ovary(1)	1						c.(1012-1014)TCG>TCA		AHNAK nucleoprotein 2							22.0	25.0	24.0					14																	105420774		1975	4142	6117	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420774C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1014G>A	14.37:g.105420774C>T						AHNAK2_uc001ypx.2_Silent_p.S238S	p.S338S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1134	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	338					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.1014G>A	CCDS45177.1																																																																																				0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
GPR132	29933	broad.mit.edu	37	14	105517549	105517549	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:105517549C>T	ENST00000329797.3	-	4	1836	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000392585.2_Missense_Mutation_p.V300M|GPR132_ENST00000539291.2_Missense_Mutation_p.V309M	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	309					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GTGGCCAGCACGTAGATAATG	0.577																																						uc001yqd.2																			0				ovary(2)|central_nervous_system(1)	3						c.(925-927)GTG>ATG		G protein-coupled receptor 132							140.0	110.0	120.0					14																	105517549		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517549C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.925G>A	14.37:g.105517549C>T	ENSP00000328818:p.Val309Met					GPR132_uc001yqc.2_Missense_Mutation_p.V121M|GPR132_uc001yqe.2_Missense_Mutation_p.V300M	p.V309M	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1824	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	309			Helical; Name=7; (Potential).		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.925G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721417	0.68959	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37752	1.18;1.18;1.18	4.68	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.46347	0.1388	L	0.34521	1.04	0.42406	D	0.992584	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35574	-0.9783	10	0.39692	T	0.17	.	12.1455	0.54022	0.0:0.9162:0.0:0.0838	.	300;309	B4E144;Q9UNW8	.;GP132_HUMAN	M	309;300;309	ENSP00000328818:V309M;ENSP00000376364:V300M;ENSP00000438094:V309M	ENSP00000328818:V309M	V	-	1	0	GPR132	104588594	0.981000	0.34729	1.000000	0.80357	0.896000	0.52359	1.964000	0.40462	1.094000	0.41399	-0.251000	0.11542	GTG		0.577	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345	
MYH11	4629	broad.mit.edu	37	16	15835524	15835524	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr16:15835524C>T	ENST00000300036.5	-	22	2764	c.2655G>A	c.(2653-2655)ctG>ctA	p.L885L	AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Silent_p.L885L|MYH11_ENST00000452625.2_Silent_p.L892L|MYH11_ENST00000396324.3_Silent_p.L892L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	885					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTCCTCGGTCAGCTGCACGC	0.637			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(2653-2655)CTG>CTA		smooth muscle myosin heavy chain 11 isoform							97.0	96.0	96.0					16																	15835524		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15835524C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2655G>A	16.37:g.15835524C>T						MYH11_uc002ddv.2_Silent_p.L892L|MYH11_uc002ddw.2_Silent_p.L885L|MYH11_uc002ddx.2_Silent_p.L892L|MYH11_uc010bvg.2_Silent_p.L717L	p.L885L	NM_002474	NP_002465	P35749	MYH11_HUMAN			22	2762	-			885			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.2655G>A	CCDS10565.1																																																																																				0.637	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
NDRG4	65009	broad.mit.edu	37	16	58538057	58538057	+	Splice_Site	SNP	G	G	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr16:58538057G>C	ENST00000570248.1	+	3	233		c.e3-1		NDRG4_ENST00000568640.1_Splice_Site|NDRG4_ENST00000562999.1_Splice_Site|NDRG4_ENST00000356752.4_Splice_Site|NDRG4_ENST00000566192.1_Splice_Site|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000394279.2_Splice_Site|NDRG4_ENST00000394282.4_Splice_Site|NDRG4_ENST00000258187.5_Splice_Site|NDRG4_ENST00000569923.1_Splice_Site|NDRG4_ENST00000563799.1_Splice_Site	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4						cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGTCTTTGCAGACAAACTATG	0.577																																						uc002eno.2																			0				skin(1)	1						c.e3-1		NDRG family member 4 isoform 1							125.0	128.0	127.0					16																	58538057		2198	4300	6498	SO:0001630	splice_region_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58538057G>C	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.128-1G>C	16.37:g.58538057G>C						NDRG4_uc002enk.2_Splice_Site_p.H75_splice|NDRG4_uc002enm.2_Splice_Site_p.H95_splice|NDRG4_uc010vif.1_Splice_Site_p.H75_splice|NDRG4_uc010cdk.2_Splice_Site_p.D61_splice|NDRG4_uc010vig.1_Splice_Site_p.H73_splice|NDRG4_uc010vih.1_Splice_Site|NDRG4_uc010vii.1_Splice_Site_p.H61_splice|NDRG4_uc002enp.2_Splice_Site_p.H43_splice|NDRG4_uc002enq.1_5'Flank	p.H43_splice	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN			3	234	+								B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Splice_Site	SNP	ENST00000570248.1	37	c.128_splice	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196684	0.79015	.	.	ENSG00000103034	ENST00000258187;ENST00000394282;ENST00000394279;ENST00000356752	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6096	0.88049	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDRG4	57095558	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.800000	0.99124	2.397000	0.81536	0.561000	0.74099	.		0.577	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2		Intron
CNOT1	23019	broad.mit.edu	37	16	58559906	58559906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr16:58559906C>T	ENST00000317147.5	-	45	6922	c.6590G>A	c.(6589-6591)cGc>cAc	p.R2197H	CNOT1_ENST00000245138.4_Missense_Mutation_p.R1048H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R2192H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2197					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R2197H(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGTTGCTGCGCAGATCAGA	0.413																																						uc002env.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|central_nervous_system(2)	6						c.(6589-6591)CGC>CAC		CCR4-NOT transcription complex, subunit 1							145.0	141.0	142.0					16																	58559906		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559906C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6590G>A	16.37:g.58559906C>T	ENSP00000320949:p.Arg2197His					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R2192H|CNOT1_uc002ent.2_Missense_Mutation_p.R135H|CNOT1_uc010vik.1_Missense_Mutation_p.R1154H	p.R2197H	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	45	6883	-			2197					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6590G>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279338	0.95489	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.49139	0.79	5.92	5.92	0.95590	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	M	0.76433	2.335	0.80722	D	1	D;P;P	0.89917	1.0;0.944;0.942	D;P;P	0.76575	0.988;0.732;0.705	T	0.60742	-0.7203	10	0.15499	T	0.54	-6.3408	19.3123	0.94195	0.0:1.0:0.0:0.0	.	1048;2197;2192	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	2197;891;202;1048	ENSP00000320949:R2197H	ENSP00000245138:R1048H	R	-	2	0	CNOT1	57117407	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.625000	0.83145	2.798000	0.96311	0.557000	0.71058	CGC		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CDYL2	124359	broad.mit.edu	37	16	80646527	80646527	+	Missense_Mutation	SNP	G	G	A	rs145890469		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr16:80646527G>A	ENST00000570137.2	-	5	1369	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V	CDYL2_ENST00000563890.1_Missense_Mutation_p.A406V|CDYL2_ENST00000562812.1_Missense_Mutation_p.A406V|CDYL2_ENST00000566173.1_Missense_Mutation_p.A406V	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	405						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTTACCAGCGCGACGCCCAG	0.622																																						uc002ffs.2																			0				central_nervous_system(1)	1						c.(1213-1215)GCG>GTG		chromodomain protein, Y-like 2		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	68.0	70.0	69.0		1214	4.9	0.9	16	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CDYL2	NM_152342.2	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	405/507	80646527	2,13004	2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80646527G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1214C>T	16.37:g.80646527G>A	ENSP00000476295:p.Ala405Val						p.A405V	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			5	1319	-			405					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.1214C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783240	0.90282	2.27E-4	1.16E-4	ENSG00000166446	ENST00000299564	T	0.68903	-0.36	4.95	4.95	0.65309	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.81148	0.4762	M	0.74881	2.28	0.54753	D	0.999981	D	0.89917	1.0	D	0.69142	0.962	T	0.83221	-0.0068	10	0.66056	D	0.02	.	17.3496	0.87320	0.0:0.0:1.0:0.0	.	405	Q8N8U2	CDYL2_HUMAN	V	405	ENSP00000299564:A405V	ENSP00000299564:A405V	A	-	2	0	CDYL2	79204028	1.000000	0.71417	0.929000	0.37066	0.858000	0.48976	7.860000	0.86993	2.562000	0.86427	0.650000	0.86243	GCG		0.622	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342	
GNGT2	2793	broad.mit.edu	37	17	47284767	47284767	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr17:47284767G>A	ENST00000511277.1	-	3	197	c.18C>T	c.(16-18)agC>agT	p.S6S	GNGT2_ENST00000507680.1_Silent_p.S6S|GNGT2_ENST00000515635.1_Silent_p.S6S|GNGT2_ENST00000300406.2_Silent_p.S6S|GNGT2_ENST00000503070.1_Silent_p.S6S|GNGT2_ENST00000511673.1_Silent_p.S6S|ABI3_ENST00000225941.1_5'Flank	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	6					G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|phototransduction (GO:0007602)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGTCCTTCTCGCTGAGATCCT	0.537																																						uc002ioo.1																			0					0						c.(16-18)AGC>AGT		guanine nucleotide binding protein-gamma							209.0	190.0	196.0					17																	47284767		2203	4300	6503	SO:0001819	synonymous_variant	2793				G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr17:47284767G>A		CCDS11545.1	17q21	2003-12-17				ENSG00000167083			4412	protein-coding gene	gene with protein product		139391				9286705	Standard	NM_031498		Approved	GNG9	uc021tzq.1	O14610		ENST00000511277.1:c.18C>T	17.37:g.47284767G>A						ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank	p.S6S	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		3	325	-			6					B2R746|D3DTW5	Silent	SNP	ENST00000511277.1	37	c.18C>T	CCDS11545.1																																																																																				0.537	GNGT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364482.1	NM_031498	
TNRC6C	57690	broad.mit.edu	37	17	76082938	76082938	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr17:76082938C>T	ENST00000588061.1	+	15	4293	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	TNRC6C_ENST00000335749.4_Missense_Mutation_p.A1186V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A1189V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A1189V			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1189					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A1189V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAGGTTGCGCGCACAATC	0.592																																						uc002jud.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(3565-3567)GCG>GTG		trinucleotide repeat containing 6C isoform 2							103.0	111.0	109.0					17																	76082938		2135	4247	6382	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76082938C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3566C>T	17.37:g.76082938C>T	ENSP00000468647:p.Ala1189Val					TNRC6C_uc002juf.2_Missense_Mutation_p.A1186V	p.A1189V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		14	4166	+			1189			Potential.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.3566C>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286463	0.95517	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.18016	2.24;2.25;2.25;2.24	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.945	T	0.14144	-1.0483	10	0.44086	T	0.13	-10.8602	19.5379	0.95262	0.0:1.0:0.0:0.0	.	1186;1189	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	V	1189;1186;1186;1189;1189;1186	ENSP00000336783:A1186V;ENSP00000301624:A1189V;ENSP00000440310:A1189V;ENSP00000442421:A1186V	ENSP00000301624:A1189V	A	+	2	0	TNRC6C	73594533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.413000	0.80104	2.618000	0.88619	0.591000	0.81541	GCG		0.592	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
TCEB3B	51224	broad.mit.edu	37	18	44561319	44561319	+	Missense_Mutation	SNP	T	T	C	rs146911955|rs386802916	byFrequency	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr18:44561319T>C	ENST00000332567.4	-	1	669	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	106					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q106R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTTTTCCTGGTCCTGAAG	0.652													C|||	26	0.00519169	0.0015	0.0043	5008	,	,		14505	0.004		0.008	False		,,,				2504	0.0092					uc002lcr.1																			1	Substitution - Missense(1)		cervix(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(316-318)CAG>CGG		elongin A2		C	ARG/GLN,	7,4393		0,7,2193	45.0	52.0	49.0		317,	-3.1	0.0	18	dbSNP_134	49	22,8572		0,22,4275	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	43,	0,29,6468	CC,CT,TT		0.256,0.1591,0.2232	benign,	106/754,	44561319	29,12965	2200	4297	6497	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561319T>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.317A>G	18.37:g.44561319T>C	ENSP00000331302:p.Gln106Arg					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.Q106R	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	670	-			106					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.317A>G	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	6.352	0.433123	0.12045	0.001591	0.00256	ENSG00000206181	ENST00000332567	T	0.07444	3.19	2.28	-3.13	0.05266	.	12.396300	0.00508	N	0.000161	T	0.05960	0.0155	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36432	-0.9748	10	0.25106	T	0.35	-1.7422	8.6283	0.33904	0.0:0.5243:0.0:0.4757	.	106	Q8IYF1	ELOA2_HUMAN	R	106	ENSP00000331302:Q106R	ENSP00000331302:Q106R	Q	-	2	0	TCEB3B	42815317	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.321000	0.08018	-1.301000	0.02338	-1.425000	0.01104	CAG		0.652	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
TCEB3B	51224	broad.mit.edu	37	18	44561321	44561321	+	Missense_Mutation	SNP	G	G	C	rs138936821|rs386802916	byFrequency	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr18:44561321G>C	ENST00000332567.4	-	1	667	c.315C>G	c.(313-315)gaC>gaG	p.D105E	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	105					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D105E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTTTCCTGGTCCTGAAGAG	0.662													G|||	22	0.00439297	0.0015	0.0029	5008	,	,		14508	0.001		0.008	False		,,,				2504	0.0092					uc002lcr.1																			1	Substitution - Missense(1)		cervix(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(313-315)GAC>GAG		elongin A2		G	GLU/ASP,	6,4394		0,6,2194	45.0	51.0	49.0		315,	-4.9	0.0	18	dbSNP_134	49	15,8579		0,15,4282	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	45,	0,21,6476	CC,CG,GG		0.1745,0.1364,0.1616	benign,	105/754,	44561321	21,12973	2200	4297	6497	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561321G>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.315C>G	18.37:g.44561321G>C	ENSP00000331302:p.Asp105Glu					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.D105E	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	668	-			105					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.315C>G	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.417095	0.04766	0.001364	0.001745	ENSG00000206181	ENST00000332567	T	0.06449	3.3	2.46	-4.92	0.03075	.	0.857574	0.09467	N	0.798210	T	0.02047	0.0064	N	0.04959	-0.14	0.09310	N	1	B	0.22080	0.064	B	0.26310	0.068	T	0.37407	-0.9707	10	0.02654	T	1	0.6963	2.5809	0.04818	0.1066:0.3716:0.1472:0.3745	.	105	Q8IYF1	ELOA2_HUMAN	E	105	ENSP00000331302:D105E	ENSP00000331302:D105E	D	-	3	2	TCEB3B	42815319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.447000	0.06828	-2.660000	0.00419	-0.311000	0.09066	GAC		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
NFATC1	4772	broad.mit.edu	37	18	77227543	77227543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr18:77227543C>T	ENST00000427363.2	+	8	2053	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R672*|NFATC1_ENST00000397790.2_Nonsense_Mutation_p.R213*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R685*|NFATC1_ENST00000253506.5_Nonsense_Mutation_p.R685*|NFATC1_ENST00000591814.1_Nonsense_Mutation_p.R685*|NFATC1_ENST00000592223.1_Nonsense_Mutation_p.R672*|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R213*|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.R672*|NFATC1_ENST00000318065.5_Nonsense_Mutation_p.R672*			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	685					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GAAGAGAAAGCGAAGCCAGTA	0.522																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1																			0				large_intestine(1)|ovary(1)	2						c.(2053-2055)CGA>TGA		nuclear factor of activated T-cells, cytosolic							125.0	93.0	104.0					18																	77227543		2202	4300	6502	SO:0001587	stop_gained	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77227543C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2053C>T	18.37:g.77227543C>T	ENSP00000389377:p.Arg685*					NFATC1_uc002lnc.1_Nonsense_Mutation_p.R685*|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.2_Nonsense_Mutation_p.R685*|NFATC1_uc002lne.2_Nonsense_Mutation_p.R213*|NFATC1_uc010xfh.1_Nonsense_Mutation_p.R685*|NFATC1_uc010xfi.1_Nonsense_Mutation_p.R672*|NFATC1_uc010xfj.1_Nonsense_Mutation_p.R213*|NFATC1_uc002lnf.2_Nonsense_Mutation_p.R672*|NFATC1_uc002lng.2_Nonsense_Mutation_p.R672*|NFATC1_uc010xfk.1_Nonsense_Mutation_p.R672*	p.R685*	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	8	2506	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	685					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Nonsense_Mutation	SNP	ENST00000427363.2	37	c.2053C>T		.	.	.	.	.	.	.	.	.	.	C	29.8	5.033888	0.93575	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	.	.	.	5.2	-4.89	0.03103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2411	18.2775	0.90087	0.3183:0.6817:0.0:0.0	.	.	.	.	X	685;685;213;685;672;213;672;649	.	ENSP00000253506:R685X	R	+	1	2	NFATC1	75328531	0.999000	0.42202	0.320000	0.25306	0.306000	0.27790	0.867000	0.27968	-1.221000	0.02591	-0.271000	0.10264	CGA		0.522	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	
MUC16	94025	broad.mit.edu	37	19	9087317	9087317	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:9087317A>G	ENST00000397910.4	-	1	4701	c.4498T>C	c.(4498-4500)Tca>Cca	p.S1500P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1500	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGACTTTGAAAGTTCATGA	0.428																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4498-4500)TCA>CCA		mucin 16							231.0	215.0	220.0					19																	9087317		1928	4136	6064	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087317A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4498T>C	19.37:g.9087317A>G	ENSP00000381008:p.Ser1500Pro						p.S1500P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4702	-			1500			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4498T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	9.037	0.988627	0.18966	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.01	-0.201	0.13212	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.40506	0.331	T	0.47129	-0.9141	8	0.87932	D	0	.	3.6633	0.08246	0.5878:0.4122:0.0:0.0	.	1500	B5ME49	.	P	1500	ENSP00000381008:S1500P	ENSP00000381008:S1500P	S	-	1	0	MUC16	8948317	0.086000	0.21541	0.013000	0.15412	0.950000	0.60333	-0.219000	0.09228	-0.126000	0.11682	0.260000	0.18958	TCA		0.428	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF653	115950	broad.mit.edu	37	19	11598332	11598332	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:11598332C>T	ENST00000293771.5	-	4	1082	c.946G>A	c.(946-948)Ggc>Agc	p.G316S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	316					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(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ACCTGTGAGCCGGGCACCATG	0.672																																					Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1																			0					0						c.(946-948)GGC>AGC		zinc finger protein 653							57.0	55.0	56.0					19																	11598332		2203	4300	6503	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11598332C>T	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.946G>A	19.37:g.11598332C>T	ENSP00000293771:p.Gly316Ser						p.G316S	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			4	999	-			316					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.946G>A	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699830	0.68501	.	.	ENSG00000161914	ENST00000293771	T	0.16743	2.32	4.27	4.27	0.50696	.	0.133611	0.49305	D	0.000153	T	0.25382	0.0617	N	0.19112	0.55	0.37276	D	0.907601	D	0.89917	1.0	D	0.87578	0.998	T	0.14227	-1.0480	10	0.31617	T	0.26	-28.9692	13.9821	0.64310	0.0:1.0:0.0:0.0	.	316	Q96CK0	ZN653_HUMAN	S	316	ENSP00000293771:G316S	ENSP00000293771:G316S	G	-	1	0	ZNF653	11459332	0.034000	0.19679	0.969000	0.41365	0.789000	0.44602	0.690000	0.25451	2.072000	0.62099	0.561000	0.74099	GGC		0.672	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783	
ZNF829	374899	broad.mit.edu	37	19	37383097	37383097	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:37383097A>G	ENST00000391711.3	-	6	960	c.596T>C	c.(595-597)gTt>gCt	p.V199A	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.V280A|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	199					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(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTCGAGTAACGAGTGAGCC	0.373																																						uc002ofa.1																			0					0						c.(595-597)GTT>GCT		zinc finger protein 829							70.0	70.0	70.0					19																	37383097		2172	4287	6459	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37383097A>G	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.596T>C	19.37:g.37383097A>G	ENSP00000429266:p.Val199Ala					ZNF345_uc002oez.2_Intron	p.V199A	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	958	-	Esophageal squamous(110;0.183)		199			C2H2-type 2; degenerate.		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.596T>C	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868825	0.32977	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.15256	2.44	3.41	1.2	0.21068	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15696	0.0378	L	0.53671	1.685	0.09310	N	1	P	0.35139	0.486	B	0.34824	0.19	T	0.19160	-1.0314	9	0.87932	D	0	.	5.5398	0.17031	0.725:0.1742:0.1008:0.0	.	199	Q3KNS6	ZN829_HUMAN	A	199	ENSP00000429266:V199A	ENSP00000429266:V199A	V	-	2	0	ZNF829	42074937	0.000000	0.05858	0.930000	0.37139	0.325000	0.28411	0.818000	0.27295	0.178000	0.19917	0.528000	0.53228	GTT		0.373	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
MARK4	57787	broad.mit.edu	37	19	45781188	45781188	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:45781188G>A	ENST00000262891.4	+	9	1125	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	MARK4_ENST00000300843.4_Missense_Mutation_p.R265Q	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGGAGCTGCGGGAGCGAGTA	0.567																																						uc002pbb.1																			0				central_nervous_system(2)|large_intestine(1)	3						c.(793-795)CGG>CAG		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							75.0	79.0	78.0					19																	45781188		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45781188G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.794G>A	19.37:g.45781188G>A	ENSP00000262891:p.Arg265Gln					MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.R265Q|MARK4_uc002pbc.1_Missense_Mutation_p.R131Q	p.R265Q			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	9	799	+		all_neural(266;0.224)|Ovarian(192;0.231)	265			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.794G>A	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637806	0.87760	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.64991	-0.13;-0.13	4.38	3.34	0.38264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.64438	0.2598	N	0.21508	0.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.75484	0.986;0.902;0.783	T	0.67252	-0.5717	10	0.87932	D	0	.	10.2721	0.43489	0.0986:0.0:0.9014:0.0	.	131;265;265	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	Q	295;265;265	ENSP00000262891:R265Q;ENSP00000300843:R265Q	ENSP00000262891:R265Q	R	+	2	0	MARK4	50473028	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.501000	0.97979	1.220000	0.43490	0.462000	0.41574	CGG		0.567	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	
SLC8A2	6543	broad.mit.edu	37	19	47960816	47960816	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:47960816C>T	ENST00000236877.6	-	3	1106	c.711G>A	c.(709-711)ccG>ccA	p.P237P	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	237					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCACGCACACCGGGAAGAAGA	0.672																																						uc002pgx.2																			0				skin(3)|ovary(1)	4						c.(709-711)CCG>CCA		solute carrier family 8 member 2 precursor							27.0	37.0	33.0					19																	47960816		2194	4285	6479	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47960816C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.711G>A	19.37:g.47960816C>T						SLC8A2_uc010xyq.1_5'UTR|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.P237P	p.P237P	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	3	989	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	237			Helical; (Potential).		B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.711G>A	CCDS33065.1																																																																																				0.672	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		
SLC17A7	57030	broad.mit.edu	37	19	49933892	49933892	+	Missense_Mutation	SNP	C	C	T	rs150211751		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:49933892C>T	ENST00000221485.3	-	12	1738	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	SLC17A7_ENST00000600601.1_Missense_Mutation_p.E456K|SLC17A7_ENST00000543531.1_Missense_Mutation_p.E511K	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	523					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCCTCCATTTCGCTGTCGTCA	0.662																																						uc002pnp.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(1567-1569)GAA>AAA		solute carrier family 17, member 7		C	LYS/GLU	0,4402		0,0,2201	42.0	37.0	38.0		1567	4.7	0.9	19	dbSNP_134	38	1,8597		0,1,4298	no	missense	SLC17A7	NM_020309.3	56	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	523/561	49933892	1,12999	2201	4299	6500	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49933892C>T	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1567G>A	19.37:g.49933892C>T	ENSP00000221485:p.Glu523Lys					SLC17A7_uc002pno.2_Missense_Mutation_p.E185K	p.E523K	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1739	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	523			Cytoplasmic (Potential).		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1567G>A	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091526	0.55968	0.0	1.16E-4	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.63913	-0.07;-0.07	4.68	4.68	0.58851	.	0.827865	0.10693	N	0.644951	T	0.52075	0.1712	L	0.34521	1.04	0.50313	D	0.999866	B;B	0.15141	0.012;0.007	B;B	0.08055	0.003;0.003	T	0.34502	-0.9826	10	0.15952	T	0.53	.	15.4824	0.75537	0.0:1.0:0.0:0.0	.	523;365	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	K	523;511	ENSP00000221485:E523K;ENSP00000441767:E511K	ENSP00000221485:E523K	E	-	1	0	SLC17A7	54625704	1.000000	0.71417	0.896000	0.35187	0.750000	0.42670	4.914000	0.63348	2.614000	0.88457	0.585000	0.79938	GAA		0.662	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		
KLK14	43847	broad.mit.edu	37	19	51582885	51582885	+	Missense_Mutation	SNP	C	C	T	rs61998181	byFrequency	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:51582885C>T	ENST00000156499.2	-	5	553	c.335G>A	c.(334-336)cGt>cAt	p.R112H	KLK14_ENST00000391802.1_Missense_Mutation_p.R112H			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	112	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CGTCACCTGACGAACCACGCG	0.657													c|||	31	0.0061901	0.0234	0.0	5008	,	,		17725	0.0		0.0	False		,,,				2504	0.0				GBM(117;2161 2172 2448 22911)	uc002pvs.1																			0				skin(1)	1						c.(334-336)CGT>CAT		kallikrein 14 preproprotein			HIS/ARG	68,4108		0,68,2020	44.0	51.0	48.0		335	5.0	1.0	19	dbSNP_129	48	1,8415		0,1,4207	yes	missense	KLK14	NM_022046.4	29	0,69,6227	TT,TC,CC		0.0119,1.6284,0.548	possibly-damaging	112/268	51582885	69,12523	2088	4208	6296	SO:0001583	missense	43847				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	g.chr19:51582885C>T	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.335G>A	19.37:g.51582885C>T	ENSP00000156499:p.Arg112His						p.R112H	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	5	554	-		all_neural(266;0.0199)	112			Peptidase S1.		A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	c.335G>A	CCDS12823.2	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	.	18.11	3.551262	0.65311	0.016284	1.19E-4	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.93659	-3.26;-3.26	5.04	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.83788	0.5330	M	0.70108	2.13	0.33917	D	0.640424	P	0.42357	0.777	B	0.43251	0.413	D	0.90697	0.4617	9	0.72032	D	0.01	.	9.5705	0.39425	0.0:0.9032:0.0:0.0968	.	112	Q9P0G3	KLK14_HUMAN	H	112	ENSP00000156499:R112H;ENSP00000375678:R112H	ENSP00000156499:R112H	R	-	2	0	KLK14	56274697	0.002000	0.14202	0.960000	0.40013	0.760000	0.43138	0.446000	0.21694	2.374000	0.81015	0.473000	0.43528	CGT		0.657	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046	
SIGLEC8	27181	broad.mit.edu	37	19	51958738	51958738	+	Nonsense_Mutation	SNP	G	G	A	rs141833256		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:51958738G>A	ENST00000321424.3	-	4	1051	c.985C>T	c.(985-987)Cga>Tga	p.R329*	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.R220*|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.R236*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	329	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCTGAGCTCGGCAGGTGAAT	0.637																																						uc002pwt.2																			0		p.R329Q(1)		ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(985-987)CGA>TGA		sialic acid binding Ig-like lectin 8 precursor		G	stop/ARG	1,4405		0,1,2202	58.0	56.0	56.0		985	-2.0	0.0	19	dbSNP_134	56	3,8597		0,3,4297	yes	stop-gained	SIGLEC8	NM_014442.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		329/500	51958738	4,13002	2203	4300	6503	SO:0001587	stop_gained	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958738G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.985C>T	19.37:g.51958738G>A	ENSP00000321077:p.Arg329*					SIGLEC8_uc010yda.1_Nonsense_Mutation_p.R220*|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R236*	p.R329*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	1052	-		all_neural(266;0.0199)	329			Extracellular (Potential).|Ig-like C2-type 2.		Q7Z728	Nonsense_Mutation	SNP	ENST00000321424.3	37	c.985C>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.965125	0.53507	2.27E-4	3.49E-4	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	2.19	-2.01	0.07410	.	1.807490	0.03491	N	0.216618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4279	0.11513	0.0:0.2194:0.3353:0.4453	.	.	.	.	X	220;329;236	.	ENSP00000321077:R329X	R	-	1	2	SIGLEC8	56650550	0.002000	0.14202	0.020000	0.16555	0.068000	0.16541	-0.507000	0.06352	-0.335000	0.08451	-0.312000	0.09012	CGA		0.637	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
ZNF813	126017	broad.mit.edu	37	19	53994691	53994691	+	Missense_Mutation	SNP	G	G	A	rs140206311		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:53994691G>A	ENST00000396403.4	+	4	1333	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAATGCCATCGTAGACTTCAT	0.408													.|||	1	0.000199681	0.0	0.0	5008	,	,		23659	0.001		0.0	False		,,,				2504	0.0					uc002qbu.2																			0				large_intestine(1)	1						c.(1204-1206)CGT>CAT		zinc finger protein 813							72.0	75.0	74.0					19																	53994691		2201	4299	6500	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994691G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1205G>A	19.37:g.53994691G>A	ENSP00000379684:p.Arg402His					ZNF813_uc010eqq.1_Intron	p.R402H	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1333	+			402			C2H2-type 7.			Missense_Mutation	SNP	ENST00000396403.4	37	c.1205G>A	CCDS46172.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	3.334	-0.135991	0.06711	.	.	ENSG00000198346	ENST00000396403	T	0.18502	2.21	1.28	-0.224	0.13115	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15998	0.0385	M	0.65320	2	0.20403	N	0.999904	B	0.20780	0.048	B	0.18263	0.021	T	0.26292	-1.0107	9	0.52906	T	0.07	.	4.8865	0.13706	0.7913:0.0:0.2087:0.0	.	402	Q6ZN06	ZN813_HUMAN	H	402	ENSP00000379684:R402H	ENSP00000379684:R402H	R	+	2	0	ZNF813	58686503	0.000000	0.05858	0.005000	0.12908	0.408000	0.30992	-0.417000	0.07088	-0.422000	0.07405	0.186000	0.17326	CGT		0.408	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
ZNF274	10782	broad.mit.edu	37	19	58723898	58723898	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:58723898C>T	ENST00000326804.4	+	9	1807	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.R418C|ZNF274_ENST00000424679.2_Missense_Mutation_p.R345C	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AAAACGATTGCGCAAACGTGA	0.428																																						uc002qrq.1																			0				ovary(1)	1						c.(1351-1353)CGC>TGC		zinc finger protein 274 isoform c							101.0	100.0	100.0					19																	58723898		2011	4185	6196	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723898C>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1348C>T	19.37:g.58723898C>T	ENSP00000321209:p.Arg450Cys					ZNF274_uc002qrr.1_Missense_Mutation_p.R419C|ZNF274_uc002qrs.1_Missense_Mutation_p.R346C|ZNF274_uc010eum.1_Missense_Mutation_p.R210C	p.R451C	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	1810	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	451					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.1351C>T		.	.	.	.	.	.	.	.	.	.	C	14.14	2.446293	0.43429	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07567	3.27;3.18;3.22	4.02	0.644	0.17776	.	0.193419	0.25813	N	0.028135	T	0.04679	0.0127	.	.	.	0.09310	N	1	B;B;B	0.29232	0.238;0.128;0.078	B;B;B	0.22601	0.04;0.013;0.006	T	0.33317	-0.9873	9	0.42905	T	0.14	-4.1058	3.4528	0.07505	0.1999:0.585:0.0:0.2151	.	346;419;451	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	C	450;418;345	ENSP00000321209:R450C;ENSP00000321187:R418C;ENSP00000409872:R345C	ENSP00000321209:R450C	R	+	1	0	ZNF274	63415710	0.000000	0.05858	0.090000	0.20809	0.085000	0.17905	0.701000	0.25616	0.249000	0.21456	0.561000	0.74099	CGC		0.428	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502	
EMILIN1	11117	broad.mit.edu	37	2	27306459	27306459	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr2:27306459G>A	ENST00000380320.4	+	4	2519	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	674					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGGCGCTGATCTGGCTGA	0.562																																						uc002rii.3																			0				pancreas(1)	1						c.(2020-2022)GAT>AAT		elastin microfibril interfacer 1 precursor							61.0	62.0	62.0					2																	27306459		2203	4300	6503	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27306459G>A	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2020G>A	2.37:g.27306459G>A	ENSP00000369677:p.Asp674Asn					EMILIN1_uc002rik.3_5'Flank	p.D674N	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			4	2448	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		674					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.2020G>A	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843140	0.51057	.	.	ENSG00000138080	ENST00000380320	T	0.63580	-0.05	4.89	4.89	0.63831	.	0.276984	0.34178	N	0.004182	T	0.59238	0.2179	N	0.19112	0.55	0.35083	D	0.763622	D	0.67145	0.996	P	0.56788	0.806	T	0.61441	-0.7062	10	0.17369	T	0.5	-19.5839	15.5879	0.76499	0.0:0.0:1.0:0.0	.	674	Q9Y6C2	EMIL1_HUMAN	N	674	ENSP00000369677:D674N	ENSP00000369677:D674N	D	+	1	0	EMILIN1	27159963	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	2.867000	0.48428	2.534000	0.85438	0.555000	0.69702	GAT		0.562	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046	
COL3A1	1281	broad.mit.edu	37	2	189859003	189859003	+	Missense_Mutation	SNP	G	G	A	rs200446048		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr2:189859003G>A	ENST00000304636.3	+	18	1408	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R413Q	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	413	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ATGGGAGCCCGGGGTCCTCCA	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16036	0.0		0.0	False		,,,				2504	0.0					uc002uqj.1																			0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1237-1239)CGG>CAG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	85.0	82.0		1238	5.6	0.9	2		82	0,8600		0,0,4300	no	missense	COL3A1	NM_000090.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	413/1467	189859003	1,13005	2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859003G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1238G>A	2.37:g.189859003G>A	ENSP00000304408:p.Arg413Gln					COL3A1_uc010frw.1_RNA	p.R413Q	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		18	1355	+			413			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1238G>A	CCDS2297.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	28.0	4.879859	0.91740	2.27E-4	0.0	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.94184	-3.37;-3.37	5.56	5.56	0.83823	.	0.000000	0.49305	D	0.000159	D	0.95604	0.8571	L	0.46819	1.47	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.94917	0.8070	10	0.46703	T	0.11	.	19.8898	0.96926	0.0:0.0:1.0:0.0	.	413	P02461	CO3A1_HUMAN	Q	413	ENSP00000304408:R413Q;ENSP00000315243:R413Q	ENSP00000304408:R413Q	R	+	2	0	COL3A1	189567248	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	6.597000	0.74118	2.775000	0.95449	0.655000	0.94253	CGG		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
ECEL1	9427	broad.mit.edu	37	2	233347307	233347307	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr2:233347307G>A	ENST00000304546.1	-	11	1907	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	ECEL1_ENST00000409941.1_Missense_Mutation_p.P564L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	566					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGCCTGTGGGGGGAGCAGCCA	0.617																																						uc002vsv.2																			0				central_nervous_system(2)	2						c.(1696-1698)CCC>CTC		endothelin converting enzyme-like 1							69.0	77.0	74.0					2																	233347307		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233347307G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1697C>T	2.37:g.233347307G>A	ENSP00000302051:p.Pro566Leu					ECEL1_uc010fya.1_Missense_Mutation_p.P564L|ECEL1_uc010fyb.1_Missense_Mutation_p.P273L	p.P566L	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	11	1902	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	566			Lumenal (Potential).		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1697C>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282616	0.59867	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.81579	-1.51;-1.51	5.46	5.46	0.80206	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.057088	0.64402	D	0.000001	D	0.84745	0.5540	L	0.50333	1.59	0.80722	D	1	D;D	0.59767	0.981;0.986	P;P	0.54590	0.756;0.722	D	0.85619	0.1263	10	0.59425	D	0.04	-18.9331	19.3138	0.94204	0.0:0.0:1.0:0.0	.	564;566	O95672-2;O95672	.;ECEL1_HUMAN	L	566;564	ENSP00000302051:P566L;ENSP00000386333:P564L	ENSP00000302051:P566L	P	-	2	0	ECEL1	233055551	1.000000	0.71417	0.383000	0.26132	0.616000	0.37450	9.814000	0.99346	2.561000	0.86390	0.655000	0.94253	CCC		0.617	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826	
DTD1	92675	broad.mit.edu	37	20	18576672	18576672	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:18576672C>T	ENST00000377452.3	+	3	337	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	53					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						TCTAAACCTGCGTGTATTTGA	0.493																																						uc002wrf.3																			0				ovary(2)	2						c.(157-159)CGT>TGT		D-tyrosyl-tRNA deacylase 1							123.0	106.0	112.0					20																	18576672		2203	4300	6503	SO:0001583	missense	92675				D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	g.chr20:18576672C>T	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.157C>T	20.37:g.18576672C>T	ENSP00000366672:p.Arg53Cys						p.R53C	NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN			3	318	+			53					A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	ENST00000377452.3	37	c.157C>T	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970621	0.74246	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.83	4.81	0.61882	D-Tyr tRNAtyr deacylase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	H	0.98883	4.36	0.80722	D	1	D	0.65815	0.995	P	0.55785	0.784	D	0.92222	0.5785	9	0.87932	D	0	-3.8013	16.9465	0.86231	0.1772:0.8228:0.0:0.0	.	53	Q8TEA8	DTD1_HUMAN	C	53	.	ENSP00000366672:R53C	R	+	1	0	DTD1	18524672	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.228000	0.51270	2.741000	0.93983	0.655000	0.94253	CGT		0.493	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820	
XKR7	343702	broad.mit.edu	37	20	30585031	30585031	+	Missense_Mutation	SNP	G	G	A	rs371180407		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:30585031G>A	ENST00000562532.2	+	3	1685	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	504						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCCAGGTGCGGCCTGGCTTG	0.677																																						uc002wxe.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(1510-1512)CGG>CAG		XK, Kell blood group complex subunit-related		G	GLN/ARG	0,4402		0,0,2201	33.0	38.0	36.0		1511	4.8	1.0	20		36	1,8593		0,1,4296	no	missense	XKR7	NM_001011718.1	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	504/580	30585031	1,12995	2201	4297	6498	SO:0001583	missense	343702					integral to membrane		g.chr20:30585031G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1511G>A	20.37:g.30585031G>A	ENSP00000477059:p.Arg504Gln						p.R504Q	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1685	+			504					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1511G>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961003	0.92791	0.0	1.16E-4	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	M	0.74467	2.265	0.45704	D	0.998616	D	0.60160	0.987	P	0.47673	0.554	T	0.72629	-0.4235	9	0.72032	D	0.01	-3.0E-4	16.7017	0.85351	0.0:0.0:1.0:0.0	.	504	Q5GH72	XKR7_HUMAN	Q	504	.	ENSP00000217299:R504Q	R	+	2	0	XKR7	30048692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.615000	0.98356	2.518000	0.84900	0.561000	0.74099	CGG		0.677	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718	
DNMT3B	1789	broad.mit.edu	37	20	31386409	31386409	+	Missense_Mutation	SNP	G	G	A	rs572676072		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:31386409G>A	ENST00000328111.2	+	15	1955	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	DNMT3B_ENST00000353855.2_Missense_Mutation_p.R525H|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R449H|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R525H|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R525H|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R537H|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R483H	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	545	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGAACGTGCGCCTGCAGGCC	0.627																																						uc002wyc.2																			0				lung(3)|ovary(2)	5						c.(1633-1635)CGC>CAC		DNA cytosine-5 methyltransferase 3 beta isoform							42.0	47.0	45.0					20																	31386409		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31386409G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1634G>A	20.37:g.31386409G>A	ENSP00000328547:p.Arg545His					DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R525H|DNMT3B_uc002wye.2_Missense_Mutation_p.R525H|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R483H|DNMT3B_uc010zua.1_Missense_Mutation_p.R449H|DNMT3B_uc002wyf.2_Missense_Mutation_p.R537H|DNMT3B_uc002wyg.2_Missense_Mutation_p.R244H|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	p.R545H	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			15	1955	+			545			ADD.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1634G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606604	0.87157	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.76	4.81	0.61882	Zinc finger, FYVE/PHD-type (1);	0.055784	0.64402	D	0.000001	D	0.82379	0.5024	L	0.51914	1.62	0.80722	D	1	D;D;P;D;D;D;D	0.89917	0.992;0.998;0.944;0.995;0.995;0.995;1.0	P;P;B;P;P;P;D	0.71870	0.46;0.709;0.285;0.662;0.768;0.662;0.975	T	0.82246	-0.0552	10	0.51188	T	0.08	-21.2594	9.1215	0.36791	0.0728:0.0:0.7796:0.1476	.	449;483;244;537;525;525;545	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	H	545;525;525;483;449;525;537	ENSP00000328547:R545H;ENSP00000313397:R525H;ENSP00000337764:R525H;ENSP00000403169:R483H;ENSP00000412305:R449H;ENSP00000345105:R525H;ENSP00000201963:R537H	ENSP00000201963:R537H	R	+	2	0	DNMT3B	30850070	1.000000	0.71417	0.834000	0.33040	0.968000	0.65278	5.215000	0.65241	1.557000	0.49525	0.650000	0.86243	CGC		0.627	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
SRSF6	6431	broad.mit.edu	37	20	42089538	42089538	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:42089538G>C	ENST00000244020.3	+	6	976	c.870G>C	c.(868-870)aaG>aaC	p.K290N		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	290	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GTGATATAAAGTCAAAATCCA	0.488																																						uc010zwg.1																			0					0						c.(868-870)AAG>AAC		arginine/serine-rich splicing factor 6							72.0	72.0	72.0					20																	42089538		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42089538G>C	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.870G>C	20.37:g.42089538G>C	ENSP00000244020:p.Lys290Asn					SFRS6_uc002xki.2_Missense_Mutation_p.K161N|SFRS6_uc002xkk.2_Intron	p.K290N	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		6	1040	+		Myeloproliferative disorder(115;0.00452)	290			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.870G>C	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	9.886	1.202940	0.22121	.	.	ENSG00000124193	ENST00000244020	T	0.11712	2.75	5.93	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.38175	1.15	0.29765	N	0.835271	P	0.37781	0.608	B	0.34824	0.19	T	0.15206	-1.0445	10	0.26408	T	0.33	.	7.6142	0.28148	0.3125:0.0:0.6875:0.0	.	290	Q13247	SRSF6_HUMAN	N	290	ENSP00000244020:K290N	ENSP00000244020:K290N	K	+	3	2	SRSF6	41522952	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.363000	0.59473	0.846000	0.35142	-0.237000	0.12165	AAG		0.488	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275	
NPBWR2	2832	broad.mit.edu	37	20	62737203	62737203	+	Missense_Mutation	SNP	G	G	A	rs371922929		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:62737203G>A	ENST00000369768.1	-	1	1321	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	328					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AATATGCTGCGGAAGTTCTTC	0.552																																						uc011abt.1																			0				large_intestine(1)	1						c.(982-984)CGC>TGC		neuropeptides B/W receptor 2			CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	108.0	77.0	88.0		982	-1.9	0.0	20		88	0,8592		0,0,4296	no	missense	NPBWR2	NM_005286.2	180	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	328/334	62737203	1,12993	2201	4296	6497	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737203G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.982C>T	20.37:g.62737203G>A	ENSP00000358783:p.Arg328Cys						p.R328C	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	982	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		328			Cytoplasmic (Potential).		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.982C>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663559	0.47572	2.27E-4	0.0	ENSG00000125522	ENST00000369768	T	0.40476	1.03	3.33	-1.91	0.07641	.	0.265570	0.28062	U	0.016744	T	0.51890	0.1701	M	0.78049	2.395	0.26109	N	0.980712	D	0.89917	1.0	P	0.62435	0.902	T	0.45234	-0.9275	10	0.87932	D	0	.	4.4102	0.11429	0.2785:0.0:0.5674:0.1541	.	328	P48146	NPBW2_HUMAN	C	328	ENSP00000358783:R328C	ENSP00000358783:R328C	R	-	1	0	NPBWR2	62207647	0.783000	0.28701	0.000000	0.03702	0.002000	0.02628	0.996000	0.29719	-0.223000	0.09943	0.486000	0.48141	CGC		0.552	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286	
FBLN2	2199	broad.mit.edu	37	3	13679191	13679191	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:13679191G>A	ENST00000295760.7	+	17	3396	c.3327G>A	c.(3325-3327)gcG>gcA	p.A1109A	FBLN2_ENST00000535798.1_Silent_p.A1135A|FBLN2_ENST00000492059.1_Silent_p.A1156A|FBLN2_ENST00000404922.3_Silent_p.A1156A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.				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)			TTGGCCCCGCGCCAGCCTTCA	0.622																																						uc011avb.1																			0				ovary(1)	1						c.(3325-3327)GCG>GCA		fibulin 2 isoform b precursor							43.0	49.0	47.0					3																	13679191		2153	4240	6393	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679191G>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.3327G>A	3.37:g.13679191G>A						FBLN2_uc011auz.1_Silent_p.A1135A|FBLN2_uc011ava.1_Silent_p.A1156A|FBLN2_uc011avc.1_Silent_p.A1156A	p.A1109A	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3452	+			1109			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.3327G>A	CCDS46762.1																																																																																				0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
CTNNB1	1499	broad.mit.edu	37	3	41275669	41275669	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:41275669G>A	ENST00000349496.5	+	10	1844	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	CTNNB1_ENST00000396183.3_Missense_Mutation_p.A522T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A515T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A522T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A522T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	522					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CCTTTGTCCCGCAAATCATGC	0.468		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(1564-1566)GCA>ACA		beta-catenin	Lithium(DB01356)						156.0	135.0	142.0					3																	41275669		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275669G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1564G>A	3.37:g.41275669G>A	ENSP00000344456:p.Ala522Thr					CTNNB1_uc003ckp.2_Missense_Mutation_p.A522T|CTNNB1_uc003ckq.2_Missense_Mutation_p.A522T|CTNNB1_uc003ckr.2_Missense_Mutation_p.A522T|CTNNB1_uc011azf.1_Missense_Mutation_p.A515T|CTNNB1_uc011azg.1_Missense_Mutation_p.A450T|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_5'Flank	p.A522T	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	11	1720	+			522			ARM 9.		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1564G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250043	0.80024	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.96	5.96	0.96718	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.70595	2.14	0.80722	D	1	B;P	0.42993	0.262;0.797	B;B	0.29077	0.017;0.098	T	0.61178	-0.7115	10	0.25106	T	0.35	-13.4527	20.422	0.99049	0.0:0.0:1.0:0.0	.	450;522	B4DSW9;P35222	.;CTNB1_HUMAN	T	522;522;522;515;522	ENSP00000385604:A522T;ENSP00000379486:A522T;ENSP00000344456:A522T;ENSP00000411226:A515T;ENSP00000379488:A522T	ENSP00000344456:A522T	A	+	1	0	CTNNB1	41250673	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	GCA		0.468	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
TGM4	7047	broad.mit.edu	37	3	44929232	44929232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:44929232C>T	ENST00000296125.4	+	3	313	c.245C>T	c.(244-246)aCg>aTg	p.T82M		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	82					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T82M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACCCGAGGACGCCCTCAGAC	0.617																																						uc003coc.3																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(244-246)ACG>ATG		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						87.0	80.0	82.0					3																	44929232		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44929232C>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.245C>T	3.37:g.44929232C>T	ENSP00000296125:p.Thr82Met					TGM4_uc003coa.2_Missense_Mutation_p.T82M|TGM4_uc003cob.2_Intron	p.T82M	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	3	318	+			82					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.245C>T	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322517	0.23994	.	.	ENSG00000163810	ENST00000296125	D	0.86956	-2.19	1.63	-1.54	0.08584	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	5.526840	0.02235	U	0.065237	D	0.86994	0.6067	L	0.46157	1.445	0.09310	N	1	P;D	0.71674	0.749;0.998	B;P	0.56088	0.34;0.791	T	0.72414	-0.4301	10	0.45353	T	0.12	.	2.042	0.03552	0.2551:0.3859:0.0:0.359	.	82;82	P49221;B4YUQ1	TGM4_HUMAN;.	M	82	ENSP00000296125:T82M	ENSP00000296125:T82M	T	+	2	0	TGM4	44904236	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.323000	0.07997	-0.542000	0.06249	-1.391000	0.01154	ACG		0.617	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
CACNA1D	776	broad.mit.edu	37	3	53756373	53756373	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:53756373G>A	ENST00000350061.5	+	12	2049	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R513H|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R533H	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	513					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGATTCAATCGCAGAAGATGT	0.453																																						uc003dgv.3																			0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(1537-1539)CGC>CAC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						175.0	144.0	155.0					3																	53756373		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53756373G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1538G>A	3.37:g.53756373G>A	ENSP00000288133:p.Arg513His					CACNA1D_uc003dgu.3_Missense_Mutation_p.R533H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R513H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R180H	p.R513H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	12	1701	+			513			Cytoplasmic (Potential).|II.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1538G>A	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.691073|5.691073	0.96793|0.96793	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.94280	.|-3.39;-3.39;-3.39;-3.39	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.97892|0.97892	0.9307|0.9307	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.985;0.999;0.978;0.998	D|D	0.98323|0.98323	1.0529|1.0529	5|10	.|0.87932	.|D	.|0	.|.	20.2441|20.2441	0.98394|0.98394	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|513;206;513;533	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	T|H	227|513;533;513;206	.|ENSP00000288133:R513H;ENSP00000288139:R533H;ENSP00000409174:R513H;ENSP00000418014:R206H	.|ENSP00000288139:R533H	A|R	+|+	1|2	0|0	CACNA1D|CACNA1D	53731413|53731413	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.774000|2.774000	0.95407|0.95407	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
PRR23B	389151	broad.mit.edu	37	3	138739098	138739098	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:138739098C>T	ENST00000329447.5	-	1	670	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	136										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCTCGACGACGACGTCCTCC	0.657																																						uc003esy.1																			0				breast(1)	1						c.(406-408)GTC>ATC		proline rich 23B							56.0	60.0	58.0					3																	138739098		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739098C>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.406G>A	3.37:g.138739098C>T	ENSP00000328768:p.Val136Ile						p.V136I	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	671	-			136					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.406G>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338858	0.41398	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.95	1.06	0.20224	.	0.261619	0.20067	N	0.099951	T	0.48314	0.1493	M	0.64997	1.995	0.09310	N	1	D	0.71674	0.998	P	0.61940	0.896	T	0.29458	-1.0011	9	0.33141	T	0.24	.	3.3514	0.07154	0.2554:0.6018:0.0:0.1428	.	136	Q6ZRT6	PR23B_HUMAN	I	136	.	ENSP00000328768:V136I	V	-	1	0	PRR23B	140221788	0.000000	0.05858	0.000000	0.03702	0.628000	0.37860	0.408000	0.21065	0.279000	0.22186	0.456000	0.33151	GTC		0.657	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650	
P2RY13	53829	broad.mit.edu	37	3	151045981	151045981	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:151045981T>C	ENST00000325602.5	-	2	882	c.863A>G	c.(862-864)gAc>gGc	p.D288G	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	288					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCTACAGTCAGTCTTATT	0.358																																						uc003eyv.2																			0				ovary(3)|lung(1)	4						c.(862-864)GAC>GGC		purinergic receptor P2Y, G-protein coupled, 13							108.0	110.0	110.0					3																	151045981		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151045981T>C	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.863A>G	3.37:g.151045981T>C	ENSP00000320376:p.Asp288Gly					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.D288G	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	884	-			288			Extracellular (Potential).		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.863A>G	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595849	0.46318	.	.	ENSG00000181631	ENST00000325602	T	0.40476	1.03	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.605252	0.17874	N	0.159099	T	0.57932	0.2087	M	0.73962	2.25	0.30421	N	0.778104	P	0.35033	0.481	P	0.46389	0.515	T	0.63721	-0.6573	10	0.66056	D	0.02	-9.2013	15.8697	0.79101	0.0:0.0:0.0:1.0	.	288	Q9BPV8	P2Y13_HUMAN	G	288	ENSP00000320376:D288G	ENSP00000320376:D288G	D	-	2	0	P2RY13	152528671	0.994000	0.37717	0.500000	0.27589	0.338000	0.28826	2.437000	0.44828	2.152000	0.67230	0.533000	0.62120	GAC		0.358	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914	
SSR3	6747	broad.mit.edu	37	3	156271443	156271444	+	Splice_Site	INS	-	-	TTGTGCTTG	rs369028927		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:156271443_156271444insTTGTGCTTG	ENST00000265044.2	-	2	354_355		c.e2+1		SSR3_ENST00000476217.1_Splice_Site|SSR3_ENST00000467789.1_Splice_Site|SSR3_ENST00000463503.1_Splice_Site|SSR3_ENST00000496050.1_Splice_Site|SSR3_ENST00000478842.1_5'Flank	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACATACTTACTTGTGCTTGAG	0.312																																						uc003fau.2																			0					0						c.e2+1		signal sequence receptor gamma subunit																																				SO:0001630	splice_region_variant	6747				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	g.chr3:156271443_156271444insTTGTGCTTG	BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.260+1->CAAGCACAA	3.37:g.156271444_156271452dupTTGTGCTTG						SSR3_uc011bop.1_Splice_Site_p.K87_splice	p.K87_splice	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	317	-								B2R7D0|B4E2P2|D3DNK5|Q549M4	Splice_Site	INS	ENST00000265044.2	37	c.260_splice	CCDS3176.1																																																																																				0.312	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351521.1	NM_007107	Intron
MFI2	4241	broad.mit.edu	37	3	196736682	196736682	+	Splice_Site	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:196736682C>T	ENST00000296350.5	-	11	1445	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	444	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGCTGTCTTCCGCTGGGGAGA	0.632																																						uc003fxk.3																			0					0						c.(1330-1332)CCG>CCA		melanoma-associated antigen p97 isoform 1							35.0	38.0	37.0					3																	196736682		2202	4300	6502	SO:0001630	splice_region_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196736682C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1331-1G>A	3.37:g.196736682C>T							p.P444P	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	11	1445	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		444			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1332G>A	CCDS3325.1																																																																																				0.632	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1		Silent
KDR	3791	broad.mit.edu	37	4	55968556	55968556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr4:55968556delC	ENST00000263923.4	-	14	2402	c.2107delG	c.(2107-2109)gatfs	p.D703fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	703	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTCATTATCTTTAAACCAC	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2107-2109)GATfs		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						143.0	135.0	138.0					4																	55968556		2203	4300	6503	SO:0001589	frameshift_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968556delC	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2107delG	4.37:g.55968556delC	ENSP00000263923:p.Asp703fs	TSP Lung(20;0.16)				KDR_uc003hat.1_Frame_Shift_Del_p.D703fs	p.D703fs	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		14	2409	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		703			Ig-like C2-type 7.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Del	DEL	ENST00000263923.4	37	c.2107delG	CCDS3497.1																																																																																				0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
SMARCA5	8467	broad.mit.edu	37	4	144474296	144474296	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr4:144474296G>A	ENST00000283131.3	+	24	3580	c.3118G>A	c.(3118-3120)Gca>Aca	p.A1040T	RP11-481K16.2_ENST00000512366.1_RNA	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	1040					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATGGATGGCGCACCTGATGG	0.333																																						uc003ijg.2																			0				skin(1)	1						c.(3118-3120)GCA>ACA		SWI/SNF-related matrix-associated							134.0	140.0	138.0					4																	144474296		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144474296G>A	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.3118G>A	4.37:g.144474296G>A	ENSP00000283131:p.Ala1040Thr						p.A1040T	NM_003601	NP_003592	O60264	SMCA5_HUMAN			24	3580	+	all_hematologic(180;0.158)		1040						Missense_Mutation	SNP	ENST00000283131.3	37	c.3118G>A	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434623	0.25813	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.90955	-2.76	5.44	5.44	0.79542	.	0.163219	0.42821	D	0.000655	T	0.73289	0.3568	N	0.02539	-0.55	0.42195	D	0.991748	B	0.06786	0.001	B	0.01281	0.0	T	0.69383	-0.5160	10	0.10111	T	0.7	-0.0807	8.3749	0.32436	0.1328:0.0:0.8672:0.0	.	1040	O60264	SMCA5_HUMAN	T	1040;983;983	ENSP00000283131:A1040T	ENSP00000283131:A1040T	A	+	1	0	SMARCA5	144693746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.069000	0.71209	2.570000	0.86706	0.555000	0.69702	GCA		0.333	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
GLRA3	8001	broad.mit.edu	37	4	175649758	175649758	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr4:175649758G>A	ENST00000274093.3	-	4	861	c.359C>T	c.(358-360)cCc>cTc	p.P120L	GLRA3_ENST00000340217.5_Missense_Mutation_p.P120L|GLRA3_ENST00000436738.1_5'UTR	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	120					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CAACATGGAGGGGTCGAGGTC	0.418																																						uc003ity.1																			0				ovary(3)	3						c.(358-360)CCC>CTC		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						109.0	118.0	115.0					4																	175649758		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175649758G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.359C>T	4.37:g.175649758G>A	ENSP00000274093:p.Pro120Leu					GLRA3_uc003itz.1_Missense_Mutation_p.P120L	p.P120L	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	4	862	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	120			Extracellular (Probable).		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.359C>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013109	0.54468	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.76186	-1.0;-1.0	4.65	4.65	0.58169	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	L	0.41079	1.255	0.80722	D	1	B;B	0.20459	0.016;0.045	B;B	0.30105	0.042;0.111	T	0.63550	-0.6612	10	0.18710	T	0.47	.	17.8917	0.88874	0.0:0.0:1.0:0.0	.	120;120	O75311-2;O75311	.;GLRA3_HUMAN	L	120	ENSP00000274093:P120L;ENSP00000345284:P120L	ENSP00000274093:P120L	P	-	2	0	GLRA3	175886333	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	9.830000	0.99415	2.300000	0.77407	0.557000	0.71058	CCC		0.418	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
PLEKHG4B	153478	broad.mit.edu	37	5	161944	161944	+	Missense_Mutation	SNP	G	G	A	rs529537081		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr5:161944G>A	ENST00000283426.6	+	10	1516	c.1466G>A	c.(1465-1467)cGt>cAt	p.R489H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	489							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R489H(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AACCCGCAACGTACAGAGGAA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17662	0.0		0.0	False		,,,				2504	0.001					uc003jak.2																			1	Substitution - Missense(1)		endometrium(1)	skin(2)	2						c.(1465-1467)CGT>CAT		pleckstrin homology domain containing, family G							100.0	92.0	95.0					5																	161944		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161944G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1466G>A	5.37:g.161944G>A	ENSP00000283426:p.Arg489His						p.R489H	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1516	+			489						Missense_Mutation	SNP	ENST00000283426.6	37	c.1466G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	1.477	-0.558379	0.03967	.	.	ENSG00000153404	ENST00000283426	D	0.93247	-3.19	2.49	-4.28	0.03732	.	.	.	.	.	D	0.83543	0.5277	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68819	-0.5308	9	0.31617	T	0.26	.	3.9044	0.09176	0.5669:0.0:0.2482:0.1849	.	489	Q96PX9	PKH4B_HUMAN	H	489	ENSP00000283426:R489H	ENSP00000283426:R489H	R	+	2	0	PLEKHG4B	214944	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.446000	0.06837	-0.705000	0.05035	-0.700000	0.03674	CGT		0.592	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
UGT3A2	167127	broad.mit.edu	37	5	36035828	36035828	+	Missense_Mutation	SNP	C	C	T	rs138640717		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr5:36035828C>T	ENST00000282507.3	-	7	1645	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	UGT3A2_ENST00000545528.1_Missense_Mutation_p.R213H|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R481H	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	515			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.R515H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGGCCCCACGCAGCCACCA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16592	0.0		0.0	False		,,,				2504	0.0					uc003jjz.1																			2	Substitution - Missense(2)	p.R515H(2)	large_intestine(1)|ovary(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1543-1545)CGT>CAT		UDP glycosyltransferase 3 family, polypeptide A2		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	49.0	50.0		1442,1544	1.9	0.0	5	dbSNP_134	50	0,8600		0,0,4300	no	missense,missense	UGT3A2	NM_001168316.1,NM_174914.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	481/490,515/524	36035828	1,13005	2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035828C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1544G>A	5.37:g.36035828C>T	ENSP00000282507:p.Arg515His					UGT3A2_uc011cos.1_Missense_Mutation_p.R481H|UGT3A2_uc011cot.1_Missense_Mutation_p.R213H	p.R515H	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1637	-	all_lung(31;0.000179)		515		R -> H (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1544G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348701	0.41599	2.27E-4	0.0	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;D	0.84370	-0.05;-0.26;-1.84	2.74	1.86	0.25419	.	1.785430	0.04311	U	0.348945	D	0.82572	0.5066	N	0.19112	0.55	0.09310	N	1	D;D	0.65815	0.995;0.963	P;P	0.55545	0.778;0.59	T	0.71467	-0.4584	10	0.15499	T	0.54	.	9.1893	0.37189	0.0:0.8812:0.0:0.1188	.	481;515	E9PFK7;Q3SY77	.;UD3A2_HUMAN	H	515;481;213	ENSP00000282507:R515H;ENSP00000427404:R481H;ENSP00000445367:R213H	ENSP00000282507:R515H	R	-	2	0	UGT3A2	36071585	0.000000	0.05858	0.032000	0.17829	0.067000	0.16453	0.781000	0.26774	0.712000	0.32039	0.563000	0.77884	CGT		0.577	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
KCTD16	57528	broad.mit.edu	37	5	143853420	143853420	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr5:143853420C>T	ENST00000507359.3	+	3	2121	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	KCTD16_ENST00000512467.1_Missense_Mutation_p.R344C	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	344					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTCTGGACCGTCCCATCAA	0.587																																						uc003lnm.1																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1030-1032)CGT>TGT		potassium channel tetramerisation domain							78.0	75.0	76.0					5																	143853420		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853420C>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1030C>T	5.37:g.143853420C>T	ENSP00000426548:p.Arg344Cys					KCTD16_uc003lnn.1_Missense_Mutation_p.R344C	p.R344C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		4	1659	+		all_hematologic(541;0.118)	344					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.1030C>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878654	0.72294	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.53640	0.61;0.61	6.17	5.24	0.73138	.	0.067878	0.52532	D	0.000065	T	0.60340	0.2261	L	0.36672	1.1	0.58432	D	0.999996	D	0.89917	1.0	D	0.75020	0.985	T	0.61451	-0.7060	10	0.87932	D	0	.	17.5706	0.87933	0.1476:0.8524:0.0:0.0	.	344	Q68DU8	KCD16_HUMAN	C	344	ENSP00000424151:R344C;ENSP00000426548:R344C	ENSP00000426548:R344C	R	+	1	0	KCTD16	143833613	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.563000	0.23547	2.941000	0.99782	0.655000	0.94253	CGT		0.587	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	
HIST1H2BL	8340	broad.mit.edu	37	6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr6:27775524C>T	ENST00000377401.2	-	1	185	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582																																						uc003njl.2																			0					0						c.(160-162)GGC>GAC		histone cluster 1, H2bl							206.0	195.0	199.0					6																	27775524		2203	4300	6503	SO:0001583	missense	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775524C>T	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.161G>A	6.37:g.27775524C>T	ENSP00000366618:p.Gly54Asp					HIST1H3H_uc003njm.2_5'Flank	p.G54D	NM_003519	NP_003510	Q99880	H2B1L_HUMAN			1	186	-			54					B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	c.161G>A	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.420936	0.83559	.	.	ENSG00000185130	ENST00000377401	T	0.69435	-0.4	4.35	4.35	0.52113	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85835	0.5789	H	0.98426	4.23	0.58432	D	0.999994	P	0.42161	0.772	P	0.56700	0.804	D	0.90595	0.4540	9	0.87932	D	0	.	16.7577	0.85504	0.0:1.0:0.0:0.0	.	54	Q99880	H2B1L_HUMAN	D	54	ENSP00000366618:G54D	ENSP00000366618:G54D	G	-	2	0	HIST1H2BL	27883503	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.331000	0.59273	2.335000	0.79485	0.655000	0.94253	GGC		0.582	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519	
HCG17	414778	broad.mit.edu	37	6	30228382	30228382	+	lincRNA	SNP	C	C	T	rs376550202		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr6:30228382C>T	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CTGCAGCACGCGGGTACCAGG	0.602																																						uc003npv.2																			0					0						c.(52-54)GCG>GTG		SubName: Full=MHC class I antigen; Flags: Fragment;		C		0,3020		0,0,1510	50.0	45.0	47.0			1.4	0.0	6		47	1,5415		0,1,2707	no	intergenic				0,1,4217	TT,TC,CC		0.0185,0.0,0.0119			30228382	1,8435	1510	2708	4218			3139							g.chr6:30228382C>T	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30228382C>T							p.A18V	NR_027822						3	503	+									Missense_Mutation	SNP	ENST00000453558.1	37	c.53C>T																																																																																					0.602	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012	
DST	667	broad.mit.edu	37	6	56457035	56457035	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr6:56457035G>C	ENST00000361203.3	-	45	12222	c.12215C>G	c.(12214-12216)tCt>tGt	p.S4072C	DST_ENST00000312431.6_Missense_Mutation_p.S4072C|DST_ENST00000421834.2_Missense_Mutation_p.S1986C|DST_ENST00000370769.4_Missense_Mutation_p.S4074C|DST_ENST00000244364.6_Missense_Mutation_p.S1660C|DST_ENST00000370754.5_Missense_Mutation_p.S4252C|DST_ENST00000446842.2_Missense_Mutation_p.S3748C|DST_ENST00000370788.2_Missense_Mutation_p.S1986C			Q03001	DYST_HUMAN	dystonin	4072					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATAGGTTCAGATAAGTGTTT	0.433																																						uc003pdf.2																			0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6490-6492)TCT>TGT		dystonin isoform 2							81.0	79.0	80.0					6																	56457035		1878	4109	5987	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56457035G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12215C>G	6.37:g.56457035G>C	ENSP00000354508:p.Ser4072Cys					DST_uc003pcz.3_Missense_Mutation_p.S1986C|DST_uc011dxj.1_Missense_Mutation_p.S2015C|DST_uc011dxk.1_Missense_Mutation_p.S2026C|DST_uc003pcy.3_Missense_Mutation_p.S1660C|DST_uc010kaa.1_RNA	p.S2164C	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		43	6519	-	Lung NSC(77;0.103)		4072			Spectrin 3.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6491C>G		.	.	.	.	.	.	.	.	.	.	G	14.91	2.677751	0.47886	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.8	-0.755	0.11061	.	0.927274	0.08952	N	0.869944	T	0.50735	0.1633	L	0.57536	1.79	0.26988	N	0.965205	D;D;D;B;D	0.71674	0.984;0.998;0.996;0.003;0.995	P;D;D;B;D	0.72075	0.863;0.976;0.91;0.017;0.944	T	0.40961	-0.9535	9	0.72032	D	0.01	.	7.4845	0.27425	0.1867:0.3464:0.4669:0.0	.	1986;4074;4252;4072;1660	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	C	1660;4252;4074;1986;3748;4072;1986;4072	ENSP00000244364:S1660C;ENSP00000359790:S4252C;ENSP00000359805:S4074C;ENSP00000400883:S1986C;ENSP00000393645:S3748C;ENSP00000307959:S4072C;ENSP00000359824:S1986C;ENSP00000354508:S4072C	ENSP00000244364:S1660C	S	-	2	0	DST	56564994	0.999000	0.42202	0.855000	0.33649	0.997000	0.91878	4.180000	0.58296	-0.047000	0.13423	0.650000	0.86243	TCT		0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					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.G598V(15)		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)	TGCCCGGCAGGAGTCATGGGA	0.567		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		15	Substitution - Missense(15)	p.G598V(16)	central_nervous_system(15)	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.(1792-1794)GGA>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>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.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.G598V	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)		15	2039	+	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)		598			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
FZD9	8326	broad.mit.edu	37	7	72849409	72849409	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:72849409T>A	ENST00000344575.3	+	1	1301	c.1072T>A	c.(1072-1074)Ttc>Atc	p.F358I		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	358					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGGCAGCTATTTCCACATGGC	0.652																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2																			0				central_nervous_system(1)	1						c.(1072-1074)TTC>ATC		frizzled 9 precursor							44.0	44.0	44.0					7																	72849409		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849409T>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1072T>A	7.37:g.72849409T>A	ENSP00000345785:p.Phe358Ile						p.F358I	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1301	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	358			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000344575.3	37	c.1072T>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387292	0.82902	.	.	ENSG00000188763	ENST00000344575	D	0.89123	-2.47	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.122552	0.56097	U	0.000035	D	0.95771	0.8624	H	0.95611	3.695	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.96697	0.9515	10	0.87932	D	0	.	12.9127	0.58189	0.0:0.0:0.0:1.0	.	358	O00144	FZD9_HUMAN	I	358	ENSP00000345785:F358I	ENSP00000345785:F358I	F	+	1	0	FZD9	72487345	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.004000	0.88535	1.710000	0.51325	0.460000	0.39030	TTC		0.652	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1		
SRPK2	6733	broad.mit.edu	37	7	104782492	104782492	+	Silent	SNP	T	T	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:104782492T>C	ENST00000393651.3	-	11	1593	c.1506A>G	c.(1504-1506)agA>agG	p.R502R	SRPK2_ENST00000489828.1_Silent_p.R491R|SRPK2_ENST00000357311.3_Silent_p.R491R	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.R491R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CTGAAACCGTTCTGCTTCTGT	0.512																																						uc003vct.2																			1	Substitution - coding silent(1)	p.R491R(1)	central_nervous_system(1)	central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1471-1473)AGA>AGG		serine/arginine-rich protein-specific kinase 2							128.0	117.0	121.0					7																	104782492		2203	4300	6503	SO:0001819	synonymous_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782492T>C	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1506A>G	7.37:g.104782492T>C						SRPK2_uc003vcu.2_Silent_p.R491R|SRPK2_uc003vcv.2_Silent_p.R502R|SRPK2_uc003vcw.1_Silent_p.R491R	p.R491R	NM_182691	NP_872633	P78362	SRPK2_HUMAN			10	1660	-			491			Protein kinase.			Silent	SNP	ENST00000393651.3	37	c.1473A>G	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	9.348	1.064853	0.20067	.	.	ENSG00000135250	ENST00000477925	.	.	.	5.63	1.22	0.21188	.	.	.	.	.	T	0.52435	0.1734	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41305	-0.9516	4	.	.	.	-11.9729	6.1752	0.20439	0.1336:0.5705:0.0:0.2959	.	.	.	.	D	98	.	.	N	-	1	0	SRPK2	104569728	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.610000	0.24253	0.401000	0.25424	-0.253000	0.11424	AAC		0.512	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
SSU72P8	136157	broad.mit.edu	37	7	124116511	124116511	+	IGR	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:124116511A>G								RP5-921G16.1 (81339 upstream) : RNU6-102P (171261 downstream)																							TCAGGAGAAAAGGGCTAAGTG	0.517																																						uc011kod.1																			0											c.(85-87)AAA>AAG		RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;							76.0	74.0	75.0					7																	124116511		1965	4180	6145	SO:0001628	intergenic_variant	0							g.chr7:124116511A>G																													7.37:g.124116511A>G							p.K29K	NM_001085395	NP_001078864					1	87	+									Silent	SNP		37	c.87A>G																																																																																				0	0.517								
ATP6V0A4	50617	broad.mit.edu	37	7	138441286	138441286	+	Splice_Site	SNP	C	C	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:138441286C>G	ENST00000310018.2	-	9	922		c.e9-1		ATP6V0A4_ENST00000353492.4_Splice_Site|ATP6V0A4_ENST00000393054.1_Splice_Site	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTCTTCTTTCTGGAAAATCA	0.353																																						uc003vuf.2																			0				pancreas(1)	1						c.e8-1		ATPase, H+ transporting, lysosomal V0 subunit							87.0	94.0	92.0					7																	138441286		2203	4300	6503	SO:0001630	splice_region_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138441286C>G	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.640-1G>C	7.37:g.138441286C>G						ATP6V0A4_uc003vug.2_Splice_Site_p.K214_splice|ATP6V0A4_uc003vuh.2_Splice_Site_p.K214_splice	p.K214_splice	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			8	878	-								A4D1R4|A8KA80|Q32M47	Splice_Site	SNP	ENST00000310018.2	37	c.640_splice	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952698	0.73787	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6332	0.91368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP6V0A4	138091826	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.343000	0.79319	2.714000	0.92807	0.561000	0.74099	.		0.353	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	Intron
MKRN1	23608	broad.mit.edu	37	7	140156627	140156627	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:140156627A>T	ENST00000255977.2	-	5	1035	c.811T>A	c.(811-813)Ttt>Att	p.F271I	MKRN1_ENST00000474576.1_Missense_Mutation_p.F207I|MKRN1_ENST00000480552.1_Missense_Mutation_p.H54Q|MKRN1_ENST00000437223.2_Missense_Mutation_p.F5I|MKRN1_ENST00000443720.2_Missense_Mutation_p.F271I	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	271					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TGCACGGCAAATGAGAGCTCC	0.532																																						uc003vvt.2																			0				ovary(1)	1						c.(811-813)TTT>ATT		makorin ring finger protein 1 isoform 1							68.0	55.0	60.0					7																	140156627		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140156627A>T	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.811T>A	7.37:g.140156627A>T	ENSP00000255977:p.Phe271Ile					MKRN1_uc003vvs.2_Missense_Mutation_p.F207I|MKRN1_uc011krd.1_Missense_Mutation_p.F5I|MKRN1_uc003vvv.3_Missense_Mutation_p.F271I|MKRN1_uc003vvu.3_Missense_Mutation_p.F207I	p.F271I	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			5	1036	-	Melanoma(164;0.00956)		271					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.811T>A	CCDS5860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.78|12.78	2.041997|2.041997	0.35989|0.35989	.|.	.|.	ENSG00000133606|ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576;ENST00000443720|ENST00000480552	T;T;T;T|.	0.41758|.	0.99;1.21;0.99;2.27|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Zinc finger, RING/FYVE/PHD-type (1);|.	0.045706|.	0.85682|.	D|.	0.000000|.	T|T	0.77089|0.77089	0.4079|0.4079	M|M	0.86097|0.86097	2.795|2.795	0.80722|0.80722	D|D	1|1	D|.	0.54772|.	0.968|.	P|.	0.56788|.	0.806|.	T|T	0.77180|0.77180	-0.2682|-0.2682	10|6	0.54805|0.30854	T|T	0.06|0.27	.|.	15.0711|15.0711	0.72037|0.72037	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	271|.	Q9UHC7|.	MKRN1_HUMAN|.	I|Q	271;207;5;207;271|54	ENSP00000255977:F271I;ENSP00000439823:F5I;ENSP00000417863:F207I;ENSP00000416369:F271I|.	ENSP00000255977:F271I|ENSP00000419894:H54Q	F|H	-|-	1|3	0|2	MKRN1|MKRN1	139803096|139803096	1.000000|1.000000	0.71417|0.71417	0.094000|0.094000	0.20943|0.20943	0.996000|0.996000	0.88848|0.88848	8.695000|8.695000	0.91298|0.91298	2.154000|2.154000	0.67381|0.67381	0.533000|0.533000	0.62120|0.62120	TTT|CAT		0.532	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446	
C8orf58	541565	broad.mit.edu	37	8	22458597	22458597	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr8:22458597C>T	ENST00000289989.5	+	2	317	c.243C>T	c.(241-243)gcC>gcT	p.A81A	C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000409586.3_Silent_p.A81A			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	81										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCCCCTGGCCGCCTTACCGG	0.632																																						uc003xce.2																			0				skin(1)	1						c.(241-243)GCC>GCT		hypothetical protein LOC541565							30.0	36.0	34.0					8																	22458597		2196	4296	6492	SO:0001819	synonymous_variant	541565							g.chr8:22458597C>T	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.243C>T	8.37:g.22458597C>T						C8orf58_uc011kzl.1_Silent_p.A81A|C8orf58_uc003xcf.2_Silent_p.A81A	p.A81A	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	355	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	81					B4DI44	Silent	SNP	ENST00000289989.5	37	c.243C>T	CCDS34862.1																																																																																				0.632	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842	
DOCK5	80005	broad.mit.edu	37	8	25156484	25156484	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr8:25156484C>T	ENST00000276440.7	+	8	675	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	DOCK5_ENST00000481100.1_Missense_Mutation_p.R211W	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	211					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTCGATTTGCGGGGCCAGTC	0.418																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(631-633)CGG>TGG		dedicator of cytokinesis 5							93.0	77.0	82.0					8																	25156484		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25156484C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.631C>T	8.37:g.25156484C>T	ENSP00000276440:p.Arg211Trp					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.2_Missense_Mutation_p.R211W	p.R211W	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	8	768	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	211					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.631C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424292	0.25639	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.43294	0.95;0.95	5.09	2.19	0.27852	.	0.073090	0.52532	D	0.000067	T	0.42471	0.1204	L	0.55481	1.735	0.42629	D	0.993371	D	0.57899	0.981	P	0.44860	0.462	T	0.49341	-0.8950	10	0.66056	D	0.02	.	15.09	0.72185	0.6199:0.3801:0.0:0.0	.	211	Q9H7D0	DOCK5_HUMAN	W	211	ENSP00000429737:R211W;ENSP00000276440:R211W	ENSP00000276440:R211W	R	+	1	2	DOCK5	25212401	0.997000	0.39634	0.494000	0.27515	0.076000	0.17211	0.783000	0.26802	0.261000	0.21753	-0.277000	0.10078	CGG		0.418	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
PPP1R16A	84988	broad.mit.edu	37	8	145726654	145726654	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr8:145726654G>C	ENST00000292539.4	+	10	2097	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.E394Q|GPT_ENST00000394955.2_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	394						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GACAGGCGCAGAGCTCAGGCC	0.736																																						uc003zdd.2																			0					0						c.(1180-1182)GAG>CAG		protein phosphatase 1, regulatory (inhibitor)							12.0	15.0	14.0					8																	145726654		2164	4258	6422	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145726654G>C		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1180G>C	8.37:g.145726654G>C	ENSP00000292539:p.Glu394Gln					uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.E394Q|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	p.E394Q	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		10	2093	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		394					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.1180G>C	CCDS6429.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.62|16.62	3.174919|3.174919	0.57692|0.57692	.|.	.|.	ENSG00000160972|ENSG00000160972	ENST00000292539;ENST00000435887|ENST00000528430	T;T|.	0.72167|.	-0.63;-0.63|.	4.72|4.72	1.74|1.74	0.24563|0.24563	.|.	0.497273|.	0.22043|.	N|.	0.065435|.	T|T	0.58764|0.58764	0.2145|0.2145	M|M	0.66939|0.66939	2.045|2.045	0.36760|0.36760	D|D	0.883249|0.883249	B|.	0.21225|.	0.053|.	B|.	0.15484|.	0.013|.	T|T	0.59247|0.59247	-0.7490|-0.7490	10|5	0.32370|.	T|.	0.25|.	.|.	5.0902|5.0902	0.14704|0.14704	0.1889:0.0:0.6451:0.166|0.1889:0.0:0.6451:0.166	.|.	394|.	Q96I34|.	PP16A_HUMAN|.	Q|H	394|61	ENSP00000292539:E394Q;ENSP00000391126:E394Q|.	ENSP00000292539:E394Q|.	E|Q	+|+	1|3	0|2	PPP1R16A|PPP1R16A	145697462|145697462	0.998000|0.998000	0.40836|0.40836	0.014000|0.014000	0.15608|0.15608	0.002000|0.002000	0.02628|0.02628	2.801000|2.801000	0.47908|0.47908	0.414000|0.414000	0.25790|0.25790	-0.448000|-0.448000	0.05591|0.05591	GAG|CAG		0.736	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902	
PTCH1	5727	broad.mit.edu	37	9	98209358	98209358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr9:98209358G>A	ENST00000331920.6	-	23	4479	c.4180C>T	c.(4180-4182)Cga>Tga	p.R1394*	PTCH1_ENST00000418258.1_Nonsense_Mutation_p.R1243*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.R1243*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.R1328*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.R1243*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.R1328*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.R1393*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1394					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R1394*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGTCCCCCTCGGGGGTTCCGC	0.677																																						uc004avk.3																			1	Substitution - Nonsense(1)	p.R1394*(1)	central_nervous_system(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(4180-4182)CGA>TGA		patched isoform L							39.0	46.0	44.0					9																	98209358		2203	4300	6503	SO:0001587	stop_gained	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98209358G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4180C>T	9.37:g.98209358G>A	ENSP00000332353:p.Arg1394*					PTCH1_uc010mrn.2_Nonsense_Mutation_p.R186*|PTCH1_uc010mro.2_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.R1243*|PTCH1_uc004avl.3_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.R1328*|PTCH1_uc004avm.3_Nonsense_Mutation_p.R1393*	p.R1394*	NM_000264	NP_000255	Q13635	PTC1_HUMAN			23	4368	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1394			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.4180C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	43	10.235255	0.99365	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	.	.	.	5.06	2.14	0.27477	.	0.472329	0.22934	N	0.053874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-2.7242	7.2399	0.26090	0.2005:0.0:0.6782:0.1212	.	.	.	.	X	1394;1328;1243;1243;1328;186;1243;1393	.	ENSP00000332353:R1394X	R	-	1	2	PTCH1	97249179	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.936000	0.40183	0.706000	0.31912	0.655000	0.94253	CGA		0.677	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
ARSD	414	broad.mit.edu	37	X	2826829	2826829	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:2826829C>T	ENST00000381154.1	-	9	1428	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	451					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACTCATGTGCCGAGCGTGCCT	0.572																																						uc004cqy.2																			0					0						c.(1351-1353)TCG>TCA		arylsulfatase D isoform a precursor							108.0	65.0	80.0					X																	2826829		2203	4300	6503	SO:0001819	synonymous_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2826829C>T	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1353G>A	X.37:g.2826829C>T						ARSD_uc004cqz.1_RNA	p.S451S	NM_001669	NP_001660	P51689	ARSD_HUMAN			9	1429	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	451					Q9UHJ8	Silent	SNP	ENST00000381154.1	37	c.1353G>A	CCDS35196.1																																																																																				0.572	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		
MAGEB6	158809	broad.mit.edu	37	X	26212934	26212934	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:26212934T>A	ENST00000379034.1	+	2	1120	c.971T>A	c.(970-972)aTc>aAc	p.I324N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	324	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTGCATTCAATCTATGGGGAT	0.488																																						uc004dbr.2																			0				ovary(3)	3						c.(970-972)ATC>AAC		melanoma antigen family B, 6							168.0	164.0	165.0					X																	26212934		2202	4298	6500	SO:0001583	missense	158809							g.chrX:26212934T>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.971T>A	X.37:g.26212934T>A	ENSP00000368320:p.Ile324Asn					MAGEB6_uc010ngc.1_Missense_Mutation_p.I104N	p.I324N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1120	+			324			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.971T>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298682	0.40694	.	.	ENSG00000176746	ENST00000379034	T	0.05855	3.38	3.29	3.29	0.37713	.	0.344160	0.27214	U	0.020393	T	0.31888	0.0811	H	0.96430	3.82	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.23261	-1.0193	10	0.87932	D	0	.	7.3105	0.26471	0.0:0.0:0.0:1.0	.	324	Q8N7X4	MAGB6_HUMAN	N	324	ENSP00000368320:I324N	ENSP00000368320:I324N	I	+	2	0	MAGEB6	26122855	0.004000	0.15560	0.006000	0.13384	0.010000	0.07245	1.553000	0.36255	1.535000	0.49220	0.481000	0.45027	ATC		0.488	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
FAM47A	158724	broad.mit.edu	37	X	34150200	34150200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:34150200C>T	ENST00000346193.3	-	1	247	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	66								p.E66K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAGTATCTTCGGGAGACGGA	0.552																																						uc004ddg.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|central_nervous_system(1)	5						c.(196-198)GAA>AAA		hypothetical protein LOC158724							82.0	79.0	80.0					X																	34150200		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150200C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.196G>A	X.37:g.34150200C>T	ENSP00000345029:p.Glu66Lys						p.E66K	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	229	-			66					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.196G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257576	0.39896	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	1.17	1.17	0.20885	.	.	.	.	.	T	0.14570	0.0352	L	0.46741	1.465	0.09310	N	1	P	0.41159	0.74	B	0.35240	0.198	T	0.14839	-1.0458	9	0.33940	T	0.23	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	66	Q5JRC9	FA47A_HUMAN	K	66	ENSP00000345029:E66K	ENSP00000345029:E66K	E	-	1	0	FAM47A	34060121	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.167000	0.16602	0.880000	0.35969	0.544000	0.68410	GAA		0.552	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
GPKOW	27238	broad.mit.edu	37	X	48976107	48976107	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:48976107G>A	ENST00000156109.5	-	4	595	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	173	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCCATGCCCCGCAGCATGGCC	0.597																																						uc004dmr.2																			0				ovary(2)	2						c.(517-519)CGG>TGG		G patch domain and KOW motifs							53.0	43.0	47.0					X																	48976107		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48976107G>A	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.517C>T	X.37:g.48976107G>A	ENSP00000156109:p.Arg173Trp						p.R173W	NM_015698	NP_056513	Q92917	GPKOW_HUMAN			4	524	-			173			G-patch.		Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.517C>T	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741508	0.69304	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.16	3.33	0.38152	D111/G-patch (2);	0.108809	0.64402	D	0.000012	T	0.78553	0.4301	M	0.89287	3.02	0.49299	D	0.999775	D	0.89917	1.0	D	0.91635	0.999	T	0.76995	-0.2752	9	0.87932	D	0	-1.7372	6.3555	0.21398	0.089:0.0:0.47:0.441	.	173	Q92917	GPKOW_HUMAN	W	173	.	ENSP00000156109:R173W	R	-	1	2	GPKOW	48863051	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.275000	0.43399	0.457000	0.26962	0.509000	0.49947	CGG		0.597	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698	
TRO	7216	broad.mit.edu	37	X	54949888	54949888	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:54949888G>A	ENST00000173898.7	+	3	1035	c.923G>A	c.(922-924)aGg>aAg	p.R308K	TRO_ENST00000420798.2_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.R308K|TRO_ENST00000375041.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.R308K|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	308					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTGCCAGCAGGGGCCCAAAT	0.552																																						uc004dtq.2																			0				ovary(1)	1						c.(922-924)AGG>AAG		trophinin isoform 5							14.0	14.0	14.0					X																	54949888		1877	4083	5960	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54949888G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.923G>A	X.37:g.54949888G>A	ENSP00000173898:p.Arg308Lys					TRO_uc011moj.1_Missense_Mutation_p.R251K|TRO_uc004dts.2_Missense_Mutation_p.R308K|TRO_uc004dtr.2_Missense_Mutation_p.R308K|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	p.R308K	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			3	1030	+			308					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.923G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.943901	0.00052	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.41065	1.01;1.01;1.01	3.13	0.68	0.17980	.	.	.	.	.	T	0.16769	0.0403	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26121	-1.0112	8	.	.	.	.	4.5016	0.11867	0.6634:0.0:0.3366:0.0	.	308;308	Q96SX2;Q12816	.;TROP_HUMAN	K	308	ENSP00000173898:R308K;ENSP00000318278:R308K;ENSP00000364162:R308K	.	R	+	2	0	TRO	54966613	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.420000	0.21263	0.036000	0.15547	-0.528000	0.04320	AGG		0.552	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
KLHL4	56062	broad.mit.edu	37	X	86773199	86773199	+	Silent	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:86773199A>G	ENST00000373119.4	+	1	448	c.303A>G	c.(301-303)caA>caG	p.Q101Q	KLHL4_ENST00000373114.4_Silent_p.Q101Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	101						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACATTTTCAAGCAAATGAAG	0.438																																						uc004efb.2																			0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(301-303)CAA>CAG		kelch-like 4 isoform 1							62.0	60.0	61.0					X																	86773199		2203	4300	6503	SO:0001819	synonymous_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773199A>G	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.303A>G	X.37:g.86773199A>G						KLHL4_uc004efa.2_Silent_p.Q101Q	p.Q101Q	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			1	485	+			101					B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	c.303A>G	CCDS14457.1																																																																																				0.438	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
ESX1	80712	broad.mit.edu	37	X	103499199	103499199	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:103499199G>A	ENST00000372588.4	-	2	225	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	48					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGTTTGGACCGTGTATTCTCC	0.587																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2																			0				ovary(1)	1						c.(142-144)CGG>TGG		extraembryonic, spermatogenesis, homeobox							184.0	171.0	175.0					X																	103499199		2203	4299	6502	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499199G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.142C>T	X.37:g.103499199G>A	ENSP00000361669:p.Arg48Trp						p.R48W	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			2	200	-			48					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.142C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	g	13.87	2.366964	0.41902	.	.	ENSG00000123576	ENST00000372588	D	0.92099	-2.97	3.63	-1.73	0.08081	.	.	.	.	.	D	0.87079	0.6088	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.56163	0.793	T	0.79422	-0.1810	9	0.72032	D	0.01	1.0545	9.2256	0.37405	0.1062:0.6436:0.2503:0.0	.	48	Q8N693	ESX1_HUMAN	W	48	ENSP00000361669:R48W	ENSP00000361669:R48W	R	-	1	2	ESX1	103385855	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.554000	0.06150	-0.537000	0.04273	CGG		0.587	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448	
MUM1L1	139221	broad.mit.edu	37	X	105451028	105451028	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:105451028A>C	ENST00000357175.2	+	4	2252	c.1603A>C	c.(1603-1605)Atg>Ctg	p.M535L	MUM1L1_ENST00000372552.1_Missense_Mutation_p.M535L|MUM1L1_ENST00000337685.2_Missense_Mutation_p.M535L	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	535						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GACCAAGAAAATGTCCTTCCA	0.453																																						uc004emf.1																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(1603-1605)ATG>CTG		melanoma associated antigen (mutated) 1-like 1							62.0	54.0	56.0					X																	105451028		1861	4080	5941	SO:0001583	missense	139221							g.chrX:105451028A>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1603A>C	X.37:g.105451028A>C	ENSP00000349699:p.Met535Leu					MUM1L1_uc004emg.1_Missense_Mutation_p.M535L	p.M535L	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	2252	+			535					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1603A>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	A	3.599	-0.082002	0.07141	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.40476	1.03;1.03;1.03	5.08	-2.13	0.07144	.	0.818710	0.10750	N	0.638403	T	0.22322	0.0538	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20472	-1.0274	10	0.46703	T	0.11	-29.659	0.8201	0.01109	0.3021:0.3299:0.2048:0.1633	.	535	Q5H9M0	MUML1_HUMAN	L	535	ENSP00000349699:M535L;ENSP00000338641:M535L;ENSP00000361632:M535L	ENSP00000338641:M535L	M	+	1	0	MUM1L1	105337684	0.950000	0.32346	0.315000	0.25238	0.664000	0.39144	0.018000	0.13422	-0.239000	0.09710	-0.323000	0.08544	ATG		0.453	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423	
KIAA1210	57481	broad.mit.edu	37	X	118219419	118219419	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:118219419T>A	ENST00000402510.2	-	12	4774	c.4775A>T	c.(4774-4776)cAc>cTc	p.H1592L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1592										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CACAGAAATGTGGGCCTTGAA	0.463																																						uc004era.3																			0				ovary(4)|skin(1)	5						c.(4774-4776)CAC>CTC		hypothetical protein LOC57481							138.0	121.0	127.0					X																	118219419		1883	4110	5993	SO:0001583	missense	57481							g.chrX:118219419T>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4775A>T	X.37:g.118219419T>A	ENSP00000384670:p.His1592Leu						p.H1592L	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			12	4775	-			1592					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4775A>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828704	0.32329	.	.	ENSG00000250423	ENST00000402510	T	0.11604	2.76	5.16	-1.38	0.09027	.	.	.	.	.	T	0.07683	0.0193	L	0.55481	1.735	0.09310	N	1	P	0.36837	0.571	B	0.32677	0.15	T	0.36553	-0.9743	9	0.14252	T	0.57	.	4.6222	0.12461	0.0:0.3044:0.3696:0.3259	.	1592	Q9ULL0	K1210_HUMAN	L	1592	ENSP00000384670:H1592L	ENSP00000384670:H1592L	H	-	2	0	RP13-347D8.6	118103447	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.445000	0.21677	-0.230000	0.09840	-0.323000	0.08544	CAC		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
BRS3	680	broad.mit.edu	37	X	135570275	135570275	+	Start_Codon_SNP	SNP	T	T	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:135570275T>G	ENST00000370648.3	+	1	230	c.2T>G	c.(1-3)aTg>aGg	p.M1R	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	1					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCAGAAGAAATGGCTCAAAGG	0.378																																						uc004ezv.1																			0				ovary(1)	1						c.(1-3)ATG>AGG		bombesin-like receptor 3							67.0	57.0	61.0					X																	135570275		2203	4300	6503	SO:0001582	initiator_codon_variant	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135570275T>G		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.2T>G	X.37:g.135570275T>G	ENSP00000359682:p.Met1Arg						p.M1R	NM_001727	NP_001718	P32247	BRS3_HUMAN			1	151	+	Acute lymphoblastic leukemia(192;0.000127)		1			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370648.3	37	c.2T>G	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171925	0.57584	.	.	ENSG00000102239	ENST00000370648	T	0.63744	-0.06	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	T	0.82868	-0.0244	9	0.87932	D	0	-25.9227	15.4736	0.75458	0.0:0.0:0.0:1.0	.	1	P32247	BRS3_HUMAN	R	1	ENSP00000359682:M1R	ENSP00000359682:M1R	M	+	2	0	BRS3	135397941	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.280000	0.65603	2.038000	0.60285	0.486000	0.48141	ATG		0.378	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727	Missense_Mutation
