#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TBP	6908	broad.mit.edu	37	6	170871061	170871061	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:170871061G>A	ENST00000392092.2	+	3	516	c.237G>A	c.(235-237)caG>caA	p.Q79Q	TBP_ENST00000230354.6_Silent_p.Q79Q|TBP_ENST00000540980.1_Silent_p.Q59Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	79	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q79Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.582																																						ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q79Q(2)	prostate(1)|endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(235-237)caG>caA		TATA box binding protein							12.0	17.0	15.0					6																	170871061		1930	3791	5721	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871061G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.237G>A	6.37:g.170871061G>A						TBP_ENST00000540980.1_Silent_p.Q59Q|TBP_ENST00000230354.6_Silent_p.Q79Q	p.Q79Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	516	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	79			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.237G>A	CCDS5315.1																																																																																				0.582	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	37	0	0	0	1	0	4	37				
ZNF606	80095	broad.mit.edu	37	19	58499976	58499976	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr19:58499976G>A	ENST00000341164.4	-	5	911	c.291C>T	c.(289-291)caC>caT	p.H97H	ZNF606_ENST00000552579.1_5'Flank|ZNF606_ENST00000536132.1_Silent_p.H7H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	97	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAGAGAGCAGGTGACCATAGG	0.557																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(289-291)caC>caT		zinc finger protein 606							203.0	181.0	188.0					19																	58499976		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58499976G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.291C>T	19.37:g.58499976G>A						ZNF606_ENST00000536132.1_Silent_p.H7H	p.H97H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	5	911	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	97			KRAB.		A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.291C>T	CCDS12968.1																																																																																				0.557	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		36	127	0	0	0	1	0	36	127				
ADORA3	140	broad.mit.edu	37	1	112042982	112042982	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:112042982G>A	ENST00000241356.4	-	2	952	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	183					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATCCAGGTGAGGAAGCTGAAG	0.423																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(547-549)Ctc>Ttc		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						155.0	143.0	147.0					1																	112042982		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042982G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.547C>T	1.37:g.112042982G>A	ENSP00000241356:p.Leu183Phe					ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	p.L183F	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	952	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	183					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.547C>T	CCDS839.1	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.192863	0.01607	.	.	ENSG00000121933	ENST00000241356	T	0.73469	-0.75	5.01	-1.86	0.07760	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14141	0.0342	N	0.02985	-0.445	0.25270	N	0.989529	B	0.02656	0.0	B	0.04013	0.001	T	0.16660	-1.0395	9	0.02654	T	1	.	2.0957	0.03667	0.5581:0.1203:0.2058:0.1158	.	183	P33765	AA3R_HUMAN	F	183	ENSP00000241356:L183F	ENSP00000241356:L183F	L	-	1	0	ADORA3	111844505	1.000000	0.71417	0.970000	0.41538	0.339000	0.28857	2.102000	0.41796	-0.556000	0.06134	-0.294000	0.09567	CTC		0.423	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		32	79	0	0	0	1	0	32	79				
ZFP64	55734	broad.mit.edu	37	20	50769705	50769705	+	Silent	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:50769705A>T	ENST00000216923.4	-	6	1375	c.1026T>A	c.(1024-1026)ccT>ccA	p.P342P	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.P288P|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCACTTCTCAGGATGCTCCG	0.592																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1024-1026)ccT>ccA		ZFP64 zinc finger protein							121.0	112.0	115.0					20																	50769705		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769705A>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1026T>A	20.37:g.50769705A>T						ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.P288P|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000361387.2_Intron	p.P342P	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1375	-			342					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.1026T>A	CCDS13440.1																																																																																				0.592	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		20	75	0	0	0	1	0	20	75				
PCDHA5	56143	broad.mit.edu	37	5	140202971	140202971	+	Silent	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:140202971C>T	ENST00000529859.1	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA5_ENST00000529619.1_Silent_p.R537R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.R537R|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.682																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1609-1611)cgC>cgT									46.0	53.0	51.0					5																	140202971		2202	4298	6500	SO:0001819	synonymous_variant	0							g.chr5:140202971C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1611C>T	5.37:g.140202971C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.R537R|PCDHA5_ENST00000378126.3_Silent_p.R537R	p.R537R	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1611C>T	CCDS54917.1																																																																																				0.682	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		4	122	0	0	0	1	0	4	122				
INTS5	80789	broad.mit.edu	37	11	62414787	62414787	+	Missense_Mutation	SNP	G	G	A	rs530708205		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:62414787G>A	ENST00000330574.2	-	2	2817	c.2765C>T	c.(2764-2766)cCg>cTg	p.P922L	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	922					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACCCAGGGCCGGAGGCAGGAG	0.612																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2764-2766)cCg>cTg		integrator complex subunit 5							109.0	121.0	117.0					11																	62414787		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414787G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2765C>T	11.37:g.62414787G>A	ENSP00000327889:p.Pro922Leu						p.P922L	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2817	-			922					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2765C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159196	0.78226	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79441	-0.1802	9	0.87932	D	0	-9.4519	17.8981	0.88895	0.0:0.0:1.0:0.0	.	922	Q6P9B9	INT5_HUMAN	L	922	.	ENSP00000327889:P922L	P	-	2	0	INTS5	62171363	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.363000	0.97131	2.823000	0.97156	0.650000	0.86243	CCG		0.612	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		5	138	0	0	0	1	0	5	138				
KDELC2	143888	broad.mit.edu	37	11	108357013	108357013	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:108357013C>A	ENST00000323468.5	-	3	620	c.555G>T	c.(553-555)agG>agT	p.R185S	KDELC2_ENST00000434945.2_Missense_Mutation_p.R129S|KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000375648.1_Missense_Mutation_p.R129S	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	185				R -> S (in Ref. 1; AAQ09021). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		CATCCCCAAACCTTTTGGGGA	0.418																																						ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(385-387)agG>agT		KDEL (Lys-Asp-Glu-Leu) containing 2							172.0	156.0	161.0					11																	108357013		1857	4099	5956	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108357013C>A	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.555G>T	11.37:g.108357013C>A	ENSP00000315386:p.Arg185Ser					KDELC2_ENST00000323468.5_Missense_Mutation_p.R185S|KDELC2_ENST00000375648.1_Missense_Mutation_p.R129S	p.R129S			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	2	689	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	185					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.387G>T	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935003	0.52866	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.26957	1.7;1.7;1.7	4.68	1.6	0.23607	.	0.089851	0.64402	D	0.000001	T	0.31167	0.0788	M	0.75615	2.305	0.58432	D	0.999998	P;P	0.36837	0.571;0.516	B;B	0.42163	0.378;0.26	T	0.06427	-1.0827	10	0.52906	T	0.07	-11.9237	8.2221	0.31547	0.0:0.7047:0.0:0.2953	.	185;129	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	S	185;129;129	ENSP00000315386:R185S;ENSP00000413429:R129S;ENSP00000364799:R129S	ENSP00000315386:R185S	R	-	3	2	KDELC2	107862223	0.957000	0.32711	0.996000	0.52242	0.985000	0.73830	0.050000	0.14120	0.352000	0.24053	0.655000	0.94253	AGG		0.418	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		6	95	1	0	0.00307968	1	0.00307968	6	95				
PDE9A	5152	broad.mit.edu	37	21	44180975	44180975	+	Missense_Mutation	SNP	C	C	T	rs141486724		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr21:44180975C>T	ENST00000291539.6	+	13	1103	c.1043C>T	c.(1042-1044)gCg>gTg	p.A348V	PDE9A_ENST00000398234.3_Missense_Mutation_p.A247V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A307V|PDE9A_ENST00000398236.3_Missense_Mutation_p.A262V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398232.3_Missense_Mutation_p.A281V|PDE9A_ENST00000335512.4_Missense_Mutation_p.A288V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A188V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A220V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A322V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A221V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A246V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A214V|PDE9A_ENST00000380328.2_Missense_Mutation_p.A295V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A220V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	348	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CTAATGACAGCGGCCATCTGC	0.502																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1042-1044)gCg>gTg		phosphodiesterase 9A		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	131.0	110.0	117.0		863,662,659,884,740,422,422,785,563,392,641,737,422,392,842,920,965,422,422,1043	5.2	0.4	21	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	288/534,221/467,220/466,295/541,247/493,141/387,141/387,262/508,188/434,131/377,214/460,246/492,141/387,131/377,281/527,307/553,322/568,141/387,141/387,348/594	44180975	1,13005	2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44180975C>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1043C>T	21.37:g.44180975C>T	ENSP00000291539:p.Ala348Val					PDE9A_ENST00000398236.3_Missense_Mutation_p.A262V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A221V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A188V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A220V|PDE9A_ENST00000398232.3_Missense_Mutation_p.A281V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Missense_Mutation_p.A288V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A307V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A322V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A246V|PDE9A_ENST00000398234.3_Missense_Mutation_p.A247V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A214V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A220V|PDE9A_ENST00000380328.2_Missense_Mutation_p.A295V	p.A348V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			13	1103	+			348			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1043C>T	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374640	0.95923	0.0	1.16E-4	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.15	5.15	0.70609	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.051489	0.85682	D	0.000000	D	0.95290	0.8472	H	0.95224	3.64	0.51482	D	0.999928	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.998;0.998;1.0;1.0;0.999;0.998;0.998;0.998;0.998;0.999;0.999;1.0;0.998;1.0	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.62885	0.595;0.894;0.777;0.595;0.852;0.898;0.725;0.777;0.878;0.675;0.675;0.852;0.813;0.852;0.777;0.908	D	0.96728	0.9537	10	0.87932	D	0	.	18.6364	0.91380	0.0:1.0:0.0:0.0	.	220;281;262;247;322;307;240;288;131;188;214;220;246;295;221;348	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	V	288;220;348;295;281;247;262;322;246;307;214;188;220;221	ENSP00000335242:A288V;ENSP00000441899:A220V;ENSP00000291539:A348V;ENSP00000369685:A295V;ENSP00000381287:A281V;ENSP00000381289:A247V;ENSP00000381291:A262V;ENSP00000328699:A322V;ENSP00000335365:A246V;ENSP00000381281:A307V;ENSP00000381285:A214V;ENSP00000381283:A188V;ENSP00000344730:A220V;ENSP00000381280:A221V	ENSP00000291539:A348V	A	+	2	0	PDE9A	43054044	1.000000	0.71417	0.384000	0.26145	0.954000	0.61252	7.033000	0.76504	2.382000	0.81193	0.655000	0.94253	GCG		0.502	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			7	29	0	0	0	1	0	7	29				
PPFIBP2	8495	broad.mit.edu	37	11	7662824	7662824	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:7662824C>G	ENST00000299492.4	+	16	1878	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	497					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAACGGAATCCCAAAGGCATT	0.448																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1489-1491)cCc>cGc		PTPRF interacting protein, binding protein 2 (liprin beta 2)							144.0	129.0	134.0					11																	7662824		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7662824C>G	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1490C>G	11.37:g.7662824C>G	ENSP00000299492:p.Pro497Arg					PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R|PPFIBP2_ENST00000530582.1_3'UTR	p.P497R	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	16	1878	+			497					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1490C>G	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643960	0.67244	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081	T;T;T;T	0.29917	1.97;1.55;1.97;1.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	L	0.56769	1.78	0.45648	D	0.998578	P;P;P;D;D;D	0.71674	0.745;0.956;0.835;0.989;0.998;0.967	B;P;B;P;P;B	0.58780	0.215;0.649;0.386;0.845;0.845;0.325	T	0.10451	-1.0629	10	0.26408	T	0.33	-20.9133	18.0605	0.89375	0.0:1.0:0.0:0.0	.	385;385;420;339;354;497	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	R	497;339;339;420;385;354;158	ENSP00000299492:P497R;ENSP00000436498:P339R;ENSP00000435469:P385R;ENSP00000437321:P354R	ENSP00000299492:P497R	P	+	2	0	PPFIBP2	7619400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.340000	0.52143	2.854000	0.98071	0.655000	0.94253	CCC		0.448	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		10	91	0	0	0	1	0	10	91				
NOS3	4846	broad.mit.edu	37	7	150704213	150704213	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:150704213C>T	ENST00000297494.3	+	17	2318	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	NOS3_ENST00000461406.1_Missense_Mutation_p.S448F	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCTCGGCTCCCGGGCATAC	0.687																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1960-1962)tCc>tTc		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						103.0	104.0	104.0					7																	150704213		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704213C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1961C>T	7.37:g.150704213C>T	ENSP00000297494:p.Ser654Phe					NOS3_ENST00000461406.1_Missense_Mutation_p.S448F	p.S654F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2318	+	all_neural(206;0.219)		654			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1961C>T	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714166	0.89112	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.61274	0.12;0.12	4.92	4.92	0.64577	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000009	T	0.80226	0.4584	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.976;0.992	D	0.84752	0.0757	10	0.87932	D	0	-14.3522	16.0526	0.80774	0.0:1.0:0.0:0.0	.	448;654	E7ESA7;P29474	.;NOS3_HUMAN	F	654;448	ENSP00000297494:S654F;ENSP00000417143:S448F	ENSP00000297494:S654F	S	+	2	0	NOS3	150335146	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.919000	0.63383	2.457000	0.83068	0.499000	0.49734	TCC		0.687	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		5	177	0	0	0	1	0	5	177				
ST6GALNAC4	27090	broad.mit.edu	37	9	130670786	130670786	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:130670786G>A	ENST00000335791.5	-	6	1069	c.794C>T	c.(793-795)gCa>gTa	p.A265V	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A181V|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	265					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGCTCGTGTGCCAGGTACAT	0.637																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(793-795)gCa>gTa		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							70.0	72.0	71.0					9																	130670786		2203	4300	6503	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130670786G>A	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.794C>T	9.37:g.130670786G>A	ENSP00000336733:p.Ala265Val					ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A181V	p.A265V	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			6	1069	-			265					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.794C>T	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561163	0.27915	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.29917	1.55;1.55;1.55	5.09	3.21	0.36854	.	0.367695	0.30051	N	0.010522	T	0.12008	0.0292	N	0.04090	-0.28	0.21841	N	0.999513	B	0.09022	0.002	B	0.10450	0.005	T	0.25537	-1.0129	10	0.16896	T	0.51	-23.253	6.947	0.24524	0.3342:0.0:0.6658:0.0	.	265	Q9H4F1	SIA7D_HUMAN	V	181;265;181;181	ENSP00000336733:A265V;ENSP00000340382:A181V;ENSP00000355130:A181V	ENSP00000336733:A265V	A	-	2	0	ST6GALNAC4	129710607	0.001000	0.12720	0.824000	0.32777	0.952000	0.60782	0.922000	0.28734	1.277000	0.44412	0.561000	0.74099	GCA		0.637	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		4	62	0	0	0	1	0	4	62				
GLUL	2752	broad.mit.edu	37	1	182355539	182355539	+	Splice_Site	SNP	T	T	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:182355539T>C	ENST00000331872.6	-	4	869		c.e4-2		GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000311223.5_Splice_Site|GLUL_ENST00000417584.2_Splice_Site	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	AATTGGTCTCTAGAAAAAAGA	0.463																																						ENST00000311223.5																			0				endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16						c.e5-2		glutamate-ammonia ligase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						119.0	121.0	121.0					1																	182355539		2203	4300	6503	SO:0001630	splice_region_variant	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182355539T>C	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.329-2A>G	1.37:g.182355539T>C						GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000331872.6_Splice_Site		NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN			5	1225	-								Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Splice_Site	SNP	ENST00000331872.6	37		CCDS1344.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607078	0.46527	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	.	.	.	5.0	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5493	0.45079	0.1443:0.0:0.0:0.8557	.	.	.	.	.	-1	.	.	.	-	.	.	GLUL	180622162	1.000000	0.71417	0.948000	0.38648	0.805000	0.45488	7.576000	0.82467	1.985000	0.57927	0.533000	0.62120	.		0.463	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065	Intron	22	90	0	0	0	1	0	22	90				
RWDD2A	112611	broad.mit.edu	37	6	83900533	83900533	+	5'Flank	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:83900533G>A	ENST00000369724.4	+	0	0				PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|RWDD2A_ENST00000539997.1_5'Flank|PGM3_ENST00000513973.1_Missense_Mutation_p.P67S|PGM3_ENST00000512866.1_Missense_Mutation_p.P67S|PGM3_ENST00000283977.4_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A											cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATTACCTCAGGATTGTGGGAC	0.403																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(199-201)Cct>Tct		phosphoglucomutase 3							196.0	164.0	175.0					6																	83900533		2203	4300	6503	SO:0001631	upstream_gene_variant	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83900533G>A	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109		6.37:g.83900533G>A	Exception_encountered					PGM3_ENST00000512866.1_Missense_Mutation_p.P67S|PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|PGM3_ENST00000283977.4_Intron	p.P67S	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	2	315	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	67					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.199C>T	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745304	0.69418	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000506587;ENST00000507554;ENST00000508748;ENST00000503094	T;T;D;D;D;D	0.87809	-0.93;-0.93;-2.3;-2.3;-2.3;-2.3	5.76	5.76	0.90799	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95514	0.8588	10	0.87932	D	0	0.2453	19.9857	0.97347	0.0:0.0:1.0:0.0	.	95;67	E9PF86;O95394	.;AGM1_HUMAN	S	67;67;95;67;95;95	ENSP00000424874:P67S;ENSP00000421565:P67S;ENSP00000425809:P95S;ENSP00000425558:P67S;ENSP00000424865:P95S;ENSP00000422362:P95S	ENSP00000422362:P95S	P	-	1	0	PGM3	83957252	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	CCT		0.403	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		6	42	0	0	0	1	0	6	42				
ITGA10	8515	broad.mit.edu	37	1	145532146	145532146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:145532146C>T	ENST00000369304.3	+	8	965	c.790C>T	c.(790-792)Cga>Tga	p.R264*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R133*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R121*|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	264	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCATGGGGGCCGACCCGAGGC	0.547																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(790-792)Cga>Tga		integrin, alpha 10							90.0	91.0	90.0					1																	145532146		2203	4300	6503	SO:0001587	stop_gained	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145532146C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.790C>T	1.37:g.145532146C>T	ENSP00000358310:p.Arg264*					ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R133*|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R121*	p.R264*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			8	965	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		264			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	ENST00000369304.3	37	c.790C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712684	0.89112	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.2	4.28	0.50868	.	0.174265	0.37715	N	0.001963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3139	0.49379	0.3285:0.6714:0.0:0.0	.	.	.	.	X	264;230;121;133	.	ENSP00000358310:R264X	R	+	1	2	ITGA10	144243503	0.041000	0.20044	0.998000	0.56505	0.993000	0.82548	0.402000	0.20965	1.325000	0.45301	0.511000	0.50034	CGA		0.547	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		10	64	0	0	0	1	0	10	64				
RRAGA	10670	broad.mit.edu	37	9	19050073	19050073	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:19050073T>A	ENST00000380527.1	+	1	702	c.416T>A	c.(415-417)cTg>cAg	p.L139Q		NM_006570.4	NP_006561.1			Ras-related GTP binding A											endometrium(1)|large_intestine(1)|lung(1)	3						CAGCGTGACCTGATTTTTAAA	0.532																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(415-417)cTg>cAg		Ras-related GTP binding A							77.0	74.0	75.0					9																	19050073		2203	4300	6503	SO:0001583	missense	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050073T>A	BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876			16963	protein-coding gene	gene with protein product		612194				7499430, 8995684	Standard	NM_006570		Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.416T>A	9.37:g.19050073T>A	ENSP00000369899:p.Leu139Gln						p.L139Q	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	702	+			139						Missense_Mutation	SNP	ENST00000380527.1	37	c.416T>A	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395977	0.25205	.	.	ENSG00000155876	ENST00000380527	T	0.62639	0.01	4.98	4.98	0.66077	.	0.087571	0.46145	D	0.000315	T	0.39937	0.1097	N	0.11201	0.11	0.58432	D	0.999997	B	0.11235	0.004	B	0.17979	0.02	T	0.28522	-1.0041	10	0.14252	T	0.57	-3.7068	11.2638	0.49099	0.0:0.0:0.0:1.0	.	139	Q7L523	RRAGA_HUMAN	Q	139	ENSP00000369899:L139Q	ENSP00000369899:L139Q	L	+	2	0	RRAGA	19040073	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.202000	0.77856	2.236000	0.73375	0.533000	0.62120	CTG		0.532	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	NM_006570		7	31	0	0	0	1	0	7	31				
CD1D	912	broad.mit.edu	37	1	158151249	158151249	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:158151249G>A	ENST00000368171.3	+	3	565	c.66G>A	c.(64-66)ccG>ccA	p.P22P		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	22					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCCAGTCCCGCAAAGGCTTT	0.587																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(64-66)ccG>ccA		CD1d molecule							210.0	235.0	227.0					1																	158151249		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151249G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.66G>A	1.37:g.158151249G>A							p.P22P	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	565	+	all_hematologic(112;0.0378)		22					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.66G>A	CCDS1173.1																																																																																				0.587	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		4	270	0	0	0	1	0	4	270				
CCL4	6351	broad.mit.edu	37	17	34431361	34431361	+	Silent	SNP	G	G	A	rs1130755		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:34431361G>A	ENST00000250151.4	+	1	379	c.63G>A	c.(61-63)gcG>gcA	p.A21A	CCL4_ENST00000394495.1_Silent_p.A21A	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	21					cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)	p.A21A(1)		endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTCTCCAGCGCTCTCAGCAC	0.502																																					Colon(139;824 1752 21188 21615 24765)	ENST00000250151.4																			1	Substitution - coding silent(1)	p.A21A(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(2)	4						c.(61-63)gcG>gcA		chemokine (C-C motif) ligand 4							455.0	415.0	428.0					17																	34431361		2203	4300	6503	SO:0001819	synonymous_variant	6351				cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity	g.chr17:34431361G>A	M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"""Chemokine ligands"", ""Endogenous ligands"""	10630	protein-coding gene	gene with protein product		182284	"""small inducible cytokine A4 (homologous to mouse Mip-1b)"""	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.63G>A	17.37:g.34431361G>A						CCL4_ENST00000394495.1_Silent_p.A21A	p.A21A	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	379	+		Ovarian(249;0.17)	21					P22617|Q13704|Q3SXL8|Q6FGI8	Silent	SNP	ENST00000250151.4	37	c.63G>A	CCDS11308.1																																																																																				0.502	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256592.2	NM_002984		11	375	0	0	0	1	0	11	375				
PHF3	23469	broad.mit.edu	37	6	64422100	64422100	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:64422100A>G	ENST00000262043.3	+	16	4956	c.4616A>G	c.(4615-4617)gAa>gGa	p.E1539G	PHF3_ENST00000393387.1_Missense_Mutation_p.E1539G			Q92576	PHF3_HUMAN	PHD finger protein 3	1539					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGTCAGCAGAAATAGAAACA	0.363																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(4615-4617)gAa>gGa		PHD finger protein 3							66.0	66.0	66.0					6																	64422100		2203	4299	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422100A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4616A>G	6.37:g.64422100A>G	ENSP00000262043:p.Glu1539Gly					PHF3_ENST00000393387.1_Missense_Mutation_p.E1539G	p.E1539G			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	4956	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1539					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.4616A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.504356	0.00155	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.45276	0.9;2.21;2.21	1.49	-1.43	0.08884	.	0.288348	0.18650	N	0.135029	T	0.06645	0.0170	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	10	0.34782	T	0.22	1.458	4.3546	0.11172	0.5736:0.0:0.0:0.4264	.	1539	Q92576	PHF3_HUMAN	G	808;1539;1539	ENSP00000425338:E808G;ENSP00000262043:E1539G;ENSP00000377048:E1539G	ENSP00000262043:E1539G	E	+	2	0	PHF3	64480059	0.002000	0.14202	0.003000	0.11579	0.043000	0.13939	0.265000	0.18515	-0.378000	0.07918	-0.282000	0.10007	GAA		0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			14	64	0	0	0	1	0	14	64				
GRAP2	9402	broad.mit.edu	37	22	40366977	40366977	+	Silent	SNP	C	C	T	rs201763751	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr22:40366977C>T	ENST00000344138.4	+	8	1145	c.882C>T	c.(880-882)agC>agT	p.S294S	GRAP2_ENST00000544756.1_Silent_p.S222S|GRAP2_ENST00000399090.2_Silent_p.S181S|GRAP2_ENST00000407075.3_Silent_p.S294S|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000540310.1_Silent_p.S228S	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	294	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGTTCCACAGCGGGGAGGTGG	0.647													C|||	4	0.000798722	0.0008	0.0	5008	,	,		15895	0.003		0.0	False		,,,				2504	0.0					ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(880-882)agC>agT		GRB2-related adaptor protein 2							70.0	65.0	67.0					22																	40366977		2203	4300	6503	SO:0001819	synonymous_variant	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40366977C>T	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.882C>T	22.37:g.40366977C>T						GRAP2_ENST00000540310.1_Silent_p.S228S|GRAP2_ENST00000407075.3_Silent_p.S294S|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000399090.2_Silent_p.S181S|GRAP2_ENST00000544756.1_Silent_p.S222S	p.S294S	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			8	1145	+			294			SH3 2.		B7Z8I3|O43726|Q9NRB7	Silent	SNP	ENST00000344138.4	37	c.882C>T	CCDS13999.1																																																																																				0.647	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		4	54	0	0	0	1	0	4	54				
TFAP2E	339488	broad.mit.edu	37	1	36054078	36054078	+	Missense_Mutation	SNP	C	C	T	rs138290823		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:36054078C>T	ENST00000373235.3	+	4	918	c.710C>T	c.(709-711)aCg>aTg	p.T237M		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TACAAGGTGACGGTGGGGGAG	0.642																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(709-711)aCg>aTg		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)		C	MET/THR	2,4404	6.2+/-15.9	0,2,2201	115.0	103.0	107.0		710	5.8	1.0	1	dbSNP_134	107	0,8600		0,0,4300	yes	missense	TFAP2E	NM_178548.3	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	237/443	36054078	2,13004	2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36054078C>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.710C>T	1.37:g.36054078C>T	ENSP00000362332:p.Thr237Met						p.T237M	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			4	918	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	237						Missense_Mutation	SNP	ENST00000373235.3	37	c.710C>T	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	34	5.308024	0.95629	4.54E-4	0.0	ENSG00000116819	ENST00000373235	D	0.98762	-5.12	5.8	5.8	0.92144	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98740	1.0716	10	0.87932	D	0	-17.2872	20.0591	0.97667	0.0:1.0:0.0:0.0	.	237	Q6VUC0	AP2E_HUMAN	M	237	ENSP00000362332:T237M	ENSP00000362332:T237M	T	+	2	0	TFAP2E	35826665	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.818000	0.86416	2.747000	0.94245	0.462000	0.41574	ACG		0.642	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		8	79	0	0	0	1	0	8	79				
GOLGB1	2804	broad.mit.edu	37	3	121417402	121417402	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr3:121417402T>G	ENST00000340645.5	-	13	2078	c.1953A>C	c.(1951-1953)gaA>gaC	p.E651D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E656D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	651					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAAAGATATTTCCTCAGATG	0.408																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(1966-1968)gaA>gaC		golgin B1							97.0	99.0	98.0					3																	121417402		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417402T>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1953A>C	3.37:g.121417402T>G	ENSP00000341848:p.Glu651Asp					GOLGB1_ENST00000340645.5_Missense_Mutation_p.E651D	p.E656D	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2078	-			651					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.1968A>C	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.271|2.271	-0.367076|-0.367076	0.05069|0.05069	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25579|.	2.39;2.39;1.79|.	5.19|5.19	-0.358|-0.358	0.12575|0.12575	.|.	0.488251|.	0.20738|.	N|.	0.086582|.	T|T	0.34221|0.34221	0.0890|0.0890	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B;P;B;B;B|.	0.38504|.	0.003;0.634;0.003;0.287;0.003|.	B;B;B;B;B|.	0.33620|.	0.004;0.167;0.006;0.116;0.004|.	T|T	0.30387|0.30387	-0.9980|-0.9980	10|5	0.21014|.	T|.	0.42|.	.|.	4.0102|4.0102	0.09619|0.09619	0.2599:0.1555:0.0:0.5846|0.2599:0.1555:0.0:0.5846	.|.	576;615;656;656;651|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	D|T	651;656;615;463|522	ENSP00000341848:E651D;ENSP00000377275:E656D;ENSP00000418231:E615D|.	ENSP00000341848:E651D|.	E|K	-|-	3|2	2|0	GOLGB1|GOLGB1	122900092|122900092	0.005000|0.005000	0.15991|0.15991	0.007000|0.007000	0.13788|0.13788	0.194000|0.194000	0.23727|0.23727	0.681000|0.681000	0.25320|0.25320	0.055000|0.055000	0.16094|0.16094	-0.336000|-0.336000	0.08194|0.08194	GAA|AAA		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		22	79	0	0	0	1	0	22	79				
CTCFL	140690	broad.mit.edu	37	20	56099166	56099166	+	Silent	SNP	T	T	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:56099166T>C	ENST00000608263.1	-	1	757	c.96A>G	c.(94-96)aaA>aaG	p.K32K	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000481655.2_Silent_p.K32K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000609232.1_Silent_p.K32K|CTCFL_ENST00000608158.1_Silent_p.K32K|CTCFL_ENST00000423479.3_Silent_p.K32K|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000608425.1_Silent_p.K32K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Silent_p.K32K|CTCFL_ENST00000608440.1_Silent_p.K32K|CTCFL_ENST00000429804.3_Silent_p.K32K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	32					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACACTCCGTCTTTTTCCTCCT	0.532																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(94-96)aaA>aaG		CCCTC-binding factor (zinc finger protein)-like							233.0	257.0	249.0					20																	56099166		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099166T>C		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.96A>G	20.37:g.56099166T>C						CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000371196.2_Silent_p.K32K|CTCFL_ENST00000422109.2_Silent_p.K32K|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000433949.2_Silent_p.K32K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000429804.2_Silent_p.K32K|CTCFL_ENST00000423479.2_Silent_p.K32K	p.K32K			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	757	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		32					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.96A>G	CCDS13459.1																																																																																				0.532	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		4	247	0	0	0	1	0	4	247				
PCLO	27445	broad.mit.edu	37	7	82451834	82451834	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:82451834A>T	ENST00000333891.9	-	20	15105	c.14768T>A	c.(14767-14769)gTg>gAg	p.V4923E	PCLO_ENST00000423517.2_Missense_Mutation_p.V4923E|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGTTGTTGCACGGCAGCTTC	0.507																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14767-14769)gTg>gAg		piccolo presynaptic cytomatrix protein							148.0	158.0	155.0					7																	82451834		2071	4208	6279	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82451834A>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14768T>A	7.37:g.82451834A>T	ENSP00000334319:p.Val4923Glu					PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.V4923E	p.V4923E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			20	15105	-			4785						Missense_Mutation	SNP	ENST00000333891.9	37	c.14768T>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509109	0.44660	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.20200	2.37;2.09	5.56	5.56	0.83823	.	.	.	.	.	T	0.27933	0.0688	N	0.08118	0	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.95;0.966	D;D;P;P	0.76575	0.988;0.988;0.698;0.598	T	0.38178	-0.9673	9	0.87932	D	0	.	15.7041	0.77563	1.0:0.0:0.0:0.0	.	4923;4923;344;411	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	E	4923;4923;410	ENSP00000334319:V4923E;ENSP00000388393:V4923E	ENSP00000334319:V4923E	V	-	2	0	PCLO	82289770	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.552000	0.53705	2.110000	0.64415	0.533000	0.62120	GTG		0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	148	0	0	0	1	0	4	148				
ARHGAP21	57584	broad.mit.edu	37	10	24909693	24909693	+	Silent	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:24909693C>T	ENST00000396432.2	-	9	1617	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S	ARHGAP21_ENST00000320481.6_Silent_p.S164S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	376					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGAATTTGGCGAATAGTGAT	0.383																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(1129-1131)tcG>tcA		Rho GTPase activating protein 21							68.0	66.0	67.0					10																	24909693		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909693C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1131G>A	10.37:g.24909693C>T						ARHGAP21_ENST00000320481.6_Silent_p.S164S	p.S377S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1617	-			376					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.1131G>A	CCDS7144.2																																																																																				0.383	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		3	59	0	0	0	1	0	3	59				
SRCAP	10847	broad.mit.edu	37	16	30750172	30750172	+	Silent	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr16:30750172A>G	ENST00000262518.4	+	34	9196	c.8811A>G	c.(8809-8811)agA>agG	p.R2937R	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Silent_p.R2779R|SRCAP_ENST00000395059.2_Silent_p.R2875R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2937	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGAGAAAAGAAGGCGAGGAC	0.592																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8809-8811)agA>agG		Snf2-related CREBBP activator protein							109.0	107.0	107.0					16																	30750172		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750172A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8811A>G	16.37:g.30750172A>G						SRCAP_ENST00000344771.4_Silent_p.R2779R|SRCAP_ENST00000395059.2_Silent_p.R2875R	p.R2937R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9196	+			2937			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.8811A>G	CCDS10689.2																																																																																				0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	46	0	0	0	1	0	9	46				
MTMR2	8898	broad.mit.edu	37	11	95595463	95595463	+	Silent	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:95595463A>G	ENST00000346299.5	-	4	670	c.330T>C	c.(328-330)taT>taC	p.Y110Y	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Silent_p.Y38Y|MTMR2_ENST00000409459.1_Silent_p.Y38Y|MTMR2_ENST00000393223.3_Silent_p.Y38Y	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	110	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATATAACCTATAATTCGTGA	0.363																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(112-114)taT>taC		myotubularin related protein 2							72.0	72.0	72.0					11																	95595463		2201	4298	6499	SO:0001819	synonymous_variant	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95595463A>G	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.330T>C	11.37:g.95595463A>G						MTMR2_ENST00000352297.7_Silent_p.Y38Y|MTMR2_ENST00000346299.5_Silent_p.Y110Y|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000409459.1_Silent_p.Y38Y	p.Y38Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			6	776	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	110			Ser-rich.		A6NN98|Q9UPS9	Silent	SNP	ENST00000346299.5	37	c.114T>C	CCDS8305.1																																																																																				0.363	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		8	35	0	0	0	1	0	8	35				
CFAP43	80217	broad.mit.edu	37	10	105953648	105953648	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:105953648G>A	ENST00000278064.2	-	11	1536	c.1211C>T	c.(1210-1212)tCg>tTg	p.S404L	WDR96_ENST00000428666.1_Missense_Mutation_p.S474L|WDR96_ENST00000357060.3_Missense_Mutation_p.S473L|WDR96_ENST00000369720.1_Missense_Mutation_p.S404L														p.S473L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGACGATTCCGAGAGAAAGGC	0.552																																						ENST00000357060.3																			1	Substitution - Missense(1)	p.S473L(1)	endometrium(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1417-1419)tCg>tTg		WD repeat domain 96							89.0	66.0	74.0					10																	105953648		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105953648G>A																												ENST00000278064.2:c.1211C>T	10.37:g.105953648G>A	ENSP00000278064:p.Ser404Leu					WDR96_ENST00000278064.2_Missense_Mutation_p.S404L|WDR96_ENST00000369720.1_Missense_Mutation_p.S404L|WDR96_ENST00000428666.1_Missense_Mutation_p.S474L	p.S473L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			11	1533	-			473						Missense_Mutation	SNP	ENST00000278064.2	37	c.1418C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.472160	0.84533	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.29142	1.62;1.62;1.62;1.58	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36893	N	0.002356	T	0.50633	0.1627	M	0.70595	2.14	0.34622	D	0.718697	D;D	0.76494	0.999;0.993	P;P	0.62560	0.904;0.61	T	0.62210	-0.6902	10	0.45353	T	0.12	.	14.3675	0.66815	0.0:0.0:1.0:0.0	.	474;473	B4DHB6;Q8NDM7	.;WDR96_HUMAN	L	473;474;404;404	ENSP00000349568:S473L;ENSP00000400289:S474L;ENSP00000278064:S404L;ENSP00000358734:S404L	ENSP00000278064:S404L	S	-	2	0	WDR96	105943638	0.985000	0.35326	0.688000	0.30117	0.057000	0.15508	2.513000	0.45494	2.652000	0.90054	0.650000	0.86243	TCG		0.552	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			5	41	0	0	0	1	0	5	41				
SRCAP	10847	broad.mit.edu	37	16	30750173	30750173	+	Silent	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr16:30750173A>C	ENST00000262518.4	+	34	9197	c.8812A>C	c.(8812-8814)Agg>Cgg	p.R2938R	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Silent_p.R2780R|SRCAP_ENST00000395059.2_Silent_p.R2876R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2938	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGAAAAGAAGGCGAGGACG	0.587																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8812-8814)Agg>Cgg		Snf2-related CREBBP activator protein							111.0	108.0	109.0					16																	30750173		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750173A>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8812A>C	16.37:g.30750173A>C						SRCAP_ENST00000344771.4_Silent_p.R2780R|SRCAP_ENST00000395059.2_Silent_p.R2876R	p.R2938R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9197	+			2938			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.8812A>C	CCDS10689.2																																																																																				0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	45	0	0	0	1	0	9	45				
IFT81	28981	broad.mit.edu	37	12	110618302	110618302	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:110618302A>G	ENST00000242591.5	+	12	1770	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	IFT81_ENST00000552912.1_Missense_Mutation_p.K422E	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	422					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTGAACTTAAAGCTGAATT	0.328																																						ENST00000242591.5																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1264-1266)Aaa>Gaa		intraflagellar transport 81 homolog (Chlamydomonas)							89.0	80.0	83.0					12																	110618302		1832	4083	5915	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110618302A>G	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1264A>G	12.37:g.110618302A>G	ENSP00000242591:p.Lys422Glu					IFT81_ENST00000552912.1_Missense_Mutation_p.K422E	p.K422E	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			12	1770	+			422					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1264A>G	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453487	0.63290	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.17528	2.27;2.27	6.07	6.07	0.98685	.	0.312951	0.42682	D	0.000666	T	0.16599	0.0399	L	0.50333	1.59	0.80722	D	1	B	0.19331	0.035	B	0.19946	0.027	T	0.07290	-1.0780	10	0.02654	T	1	-28.8168	16.6406	0.85098	1.0:0.0:0.0:0.0	.	422	Q8WYA0	IFT81_HUMAN	E	422	ENSP00000449718:K422E;ENSP00000242591:K422E	ENSP00000242591:K422E	K	+	1	0	IFT81	109102685	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.256000	0.72473	2.326000	0.78906	0.533000	0.62120	AAA		0.328	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		8	26	0	0	0	1	0	8	26				
PTGS2	5743	broad.mit.edu	37	1	186648244	186648244	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:186648244C>T	ENST00000367468.5	-	3	395	c.259G>A	c.(259-261)Gtt>Att	p.V87I	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	87					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTATTCACAACGTTCCAAAAT	0.358																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(259-261)Gtt>Att		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						88.0	87.0	87.0					1																	186648244		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648244C>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.259G>A	1.37:g.186648244C>T	ENSP00000356438:p.Val87Ile					PTGS2_ENST00000490885.2_5'UTR	p.V87I	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			3	395	-			87					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.259G>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	1.259	-0.616254	0.03663	.	.	ENSG00000073756	ENST00000367468	T	0.62232	0.04	5.93	2.39	0.29439	.	0.090292	0.64402	N	0.000001	T	0.18087	0.0434	N	0.00275	-1.725	0.29162	N	0.877729	B	0.02656	0.0	B	0.04013	0.001	T	0.37314	-0.9711	10	0.02654	T	1	-14.7877	6.104	0.20063	0.1209:0.1315:0.0:0.7476	.	87	P35354	PGH2_HUMAN	I	87	ENSP00000356438:V87I	ENSP00000356438:V87I	V	-	1	0	PTGS2	184914867	1.000000	0.71417	0.851000	0.33527	0.383000	0.30230	3.305000	0.51873	0.160000	0.19432	-1.093000	0.02169	GTT		0.358	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		12	63	0	0	0	1	0	12	63				
PKD2L1	9033	broad.mit.edu	37	10	102050257	102050257	+	Missense_Mutation	SNP	A	A	G	rs143580376		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:102050257A>G	ENST00000318222.3	-	13	2409	c.2027T>C	c.(2026-2028)aTt>aCt	p.I676T	PKD2L1_ENST00000338519.3_Missense_Mutation_p.I601T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.I676T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	676					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TAGTTTCTCAATCTCAGTGTT	0.527													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20152	0.0		0.0	False		,,,				2504	0.0					ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2026-2028)aTt>aCt		polycystic kidney disease 2-like 1		A	THR/ILE	3,4403	6.2+/-15.9	0,3,2200	68.0	57.0	61.0		2027	1.3	1.0	10	dbSNP_134	61	0,8600		0,0,4300	no	missense	PKD2L1	NM_016112.2	89	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign	676/806	102050257	3,13003	2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102050257A>G	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2027T>C	10.37:g.102050257A>G	ENSP00000325296:p.Ile676Thr					PKD2L1_ENST00000353274.3_Missense_Mutation_p.I676T|PKD2L1_ENST00000338519.3_Missense_Mutation_p.I601T	p.I676T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	13	2409	-		Colorectal(252;0.117)	676					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.2027T>C	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	A	7.069	0.567949	0.13560	6.81E-4	0.0	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.82344	-1.6;-1.6;-1.6	5.05	1.27	0.21489	.	0.266592	0.35739	N	0.003001	T	0.77698	0.4169	M	0.68593	2.085	0.28813	N	0.898137	B;B	0.20052	0.041;0.001	B;B	0.25884	0.064;0.015	T	0.63651	-0.6589	10	0.21540	T	0.41	-2.169	8.4943	0.33119	0.7631:0.0:0.2369:0.0	.	629;676	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	T	601;676;676;674	ENSP00000345068:I601T;ENSP00000266049:I676T;ENSP00000325296:I676T	ENSP00000325296:I676T	I	-	2	0	PKD2L1	102040247	1.000000	0.71417	0.991000	0.47740	0.178000	0.23041	0.806000	0.27126	-0.028000	0.13850	0.260000	0.18958	ATT		0.527	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		5	28	0	0	0	1	0	5	28				
NIPAL1	152519	broad.mit.edu	37	4	48027157	48027157	+	Missense_Mutation	SNP	T	T	A	rs377672607		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr4:48027157T>A	ENST00000295461.5	+	2	185	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	40						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TCACAGCTGCTGGCTTCTCCT	0.438																																						ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(118-120)cTg>cAg		NIPA-like domain containing 1							143.0	133.0	136.0					4																	48027157		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48027157T>A	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.119T>A	4.37:g.48027157T>A	ENSP00000295461:p.Leu40Gln					NIPAL1_ENST00000508180.1_3'UTR	p.L40Q	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			2	185	+			40					B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.119T>A	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334610	0.24253	.	.	ENSG00000163293	ENST00000295461;ENST00000511123	D;T	0.90197	-2.63;-1.07	5.13	-1.56	0.08532	.	1.477850	0.04437	N	0.370231	T	0.80019	0.4547	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63937	-0.6524	10	0.13853	T	0.58	.	2.2898	0.04136	0.2783:0.0709:0.1829:0.4679	.	40	Q6NVV3	NIPA3_HUMAN	Q	40;5	ENSP00000295461:L40Q;ENSP00000422276:L5Q	ENSP00000295461:L40Q	L	+	2	0	NIPAL1	47721914	0.000000	0.05858	0.332000	0.25469	0.830000	0.47004	0.038000	0.13862	0.034000	0.15491	-0.435000	0.05868	CTG		0.438	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		8	69	0	0	0	1	0	8	69				
KRTAP5-9	3846	broad.mit.edu	37	11	71260209	71260209	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:71260209T>G	ENST00000528743.2	+	1	744	c.506T>G	c.(505-507)aTc>aGc	p.I169S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	169					epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CAGTGCAAGATCTGAGGCTCT	0.547																																						ENST00000528743.2																			0				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(505-507)aTc>aGc		keratin associated protein 5-9							88.0	90.0	89.0					11																	71260209		2200	4293	6493	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71260209T>G	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.506T>G	11.37:g.71260209T>G	ENSP00000431443:p.Ile169Ser						p.I169S	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	744	+			169					Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.506T>G	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	9.497	1.102154	0.20632	.	.	ENSG00000254997	ENST00000528743	T	0.04156	3.69	1.69	0.4	0.16331	.	.	.	.	.	T	0.08670	0.0215	M	0.89715	3.055	0.09310	N	1	P	0.34684	0.463	B	0.28849	0.095	T	0.17806	-1.0357	9	0.87932	D	0	.	4.4769	0.11748	0.0:0.0:0.3464:0.6535	.	169	P26371	KRA59_HUMAN	S	169	ENSP00000431443:I169S	ENSP00000431443:I169S	I	+	2	0	KRTAP5-9	70937857	0.443000	0.25641	0.026000	0.17262	0.204000	0.24138	-0.215000	0.09279	0.086000	0.17137	0.323000	0.21402	ATC		0.547	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			35	88	0	0	0	1	0	35	88				
SNHG14	104472715	broad.mit.edu	37	15	25462407	25462407	+	RNA	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:25462407G>C	ENST00000424208.1	+	0	2787				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-25_ENST00000362619.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCGAGGGCCAGTGTCTCTCAG	0.607																																						ENST00000424208.1																			0																																																			0							g.chr15:25462407G>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25462407G>C								NR_003305.1						0	2787	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.607	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			3	7	0	0	0	1	0	3	7				
FAM214A	56204	broad.mit.edu	37	15	52902265	52902265	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:52902265A>C	ENST00000261844.7	-	6	998	c.846T>G	c.(844-846)caT>caG	p.H282Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.H289Q	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	282																	CACTTTTTGCATGTAACACAC	0.438																																						ENST00000261844.7																			0											c.(844-846)caT>caG		family with sequence similarity 214, member A							145.0	118.0	126.0					15																	52902265		1909	4122	6031	SO:0001583	missense	56204							g.chr15:52902265A>C	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.846T>G	15.37:g.52902265A>C	ENSP00000261844:p.His282Gln					FAM214A_ENST00000546305.2_Missense_Mutation_p.H289Q	p.H282Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	998	-			282					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.846T>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740101	0.30865	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.31510	1.49;1.49	5.09	1.43	0.22495	.	0.278011	0.40469	N	0.001086	T	0.28400	0.0702	M	0.62723	1.935	0.28949	N	0.890506	P;P	0.43633	0.813;0.716	B;B	0.42555	0.391;0.219	T	0.18272	-1.0342	10	0.62326	D	0.03	.	5.026	0.14385	0.6648:0.0:0.208:0.1272	.	289;282	F5H8G0;Q32MH5	.;K1370_HUMAN	Q	282;282;281;289	ENSP00000261844:H282Q;ENSP00000443598:H289Q	ENSP00000261844:H282Q	H	-	3	2	KIAA1370	50689557	0.993000	0.37304	0.316000	0.25252	0.957000	0.61999	1.249000	0.32839	0.329000	0.23460	0.533000	0.62120	CAT		0.438	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		10	36	0	0	0	1	0	10	36				
TAGAP	117289	broad.mit.edu	37	6	159463110	159463110	+	Splice_Site	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:159463110C>G	ENST00000367066.3	-	5	646	c.315G>C	c.(313-315)caG>caC	p.Q105H	TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	105	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCACGCCTACCTGGATGGGTC	0.443																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.e5+1		T-cell activation RhoGTPase activating protein							206.0	202.0	204.0					6																	159463110		2203	4300	6503	SO:0001630	splice_region_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159463110C>G	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.315+1G>C	6.37:g.159463110C>G						TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105_splice|RP1-111C20.4_ENST00000607391.1_RNA	p.Q105_splice	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	646	-		Breast(66;0.000776)|Ovarian(120;0.0303)	105			Rho-GAP.		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Splice_Site	SNP	ENST00000367066.3	37	c.315_splice	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009482	0.54361	.	.	ENSG00000164691	ENST00000367066;ENST00000338313	T;T	0.19806	2.12;2.12	5.8	5.8	0.92144	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.097574	0.47455	D	0.000221	T	0.36580	0.0972	M	0.72118	2.19	0.49915	D	0.999838	D;D	0.89917	0.991;1.0	P;D	0.77557	0.822;0.99	T	0.03706	-1.1011	9	.	.	.	-34.2679	14.4925	0.67660	0.1469:0.853:0.0:0.0	.	105;105	Q8N103-4;Q8N103	.;TAGAP_HUMAN	H	105	ENSP00000356033:Q105H;ENSP00000340217:Q105H	.	Q	-	3	2	TAGAP	159383098	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	1.070000	0.30653	2.746000	0.94184	0.563000	0.77884	CAG		0.443	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	Missense_Mutation	4	141	0	0	0	1	0	4	141				
SPOP	8405	broad.mit.edu	37	17	47696431	47696431	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:47696431C>A	ENST00000393328.2	-	6	757	c.392G>T	c.(391-393)tGg>tTg	p.W131L	SPOP_ENST00000393331.3_Missense_Mutation_p.W131L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000504102.1_Missense_Mutation_p.W131L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tGg>tTg		speckle-type POZ protein							121.0	123.0	123.0					17																	47696431		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696431C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.392G>T	17.37:g.47696431C>A	ENSP00000377001:p.Trp131Leu	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000504102.1_Missense_Mutation_p.W131L	p.W131L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	862	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.392G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915396	0.92178	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.67700	2.07	0.80722	D	1	P	0.47841	0.901	P	0.51516	0.672	T	0.76337	-0.2996	10	0.52906	T	0.07	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	L	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131L;ENSP00000377004:W131L;ENSP00000240327:W131L;ENSP00000425905:W131L;ENSP00000420908:W131L;ENSP00000426986:W131L;ENSP00000420960:W131L;ENSP00000426262:W131L;ENSP00000424119:W131L	ENSP00000240327:W131L	W	-	2	0	SPOP	45051430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		35	101	1	0	4.4194e-11	1	4.55539e-11	35	101				
KMT2C	58508	broad.mit.edu	37	7	151836271	151836271	+	Splice_Site	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:151836271C>G	ENST00000262189.6	-	57	14752	c.14534G>C	c.(14533-14535)aGg>aCg	p.R4845T	KMT2C_ENST00000355193.2_Splice_Site_p.R4902T|KMT2C_ENST00000485655.2_Splice_Site_p.R50T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4845	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTGTCTCACCTTGCGGGCCC	0.567																																						ENST00000355193.2																			0											c.e58+1		lysine (K)-specific methyltransferase 2C							94.0	78.0	84.0					7																	151836271		2203	4300	6503	SO:0001630	splice_region_variant	58508							g.chr7:151836271C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14534+1G>C	7.37:g.151836271C>G						KMT2C_ENST00000262189.6_Splice_Site_p.R4845_splice|KMT2C_ENST00000485655.2_Splice_Site_p.R50_splice	p.R4902_splice							58	14923	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.14705_splice	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.194227|4.194227	0.78902|0.78902	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000485655;ENST00000424877	.|D;D;D;D	.|0.85556	.|-2.0;-2.0;-2.0;-2.0	4.81|4.81	4.81|4.81	0.61882|0.61882	.|SET domain (3);	.|0.000000	.|0.49305	.|U	.|0.000150	D|D	0.96197|0.96197	0.8760|0.8760	H|H	0.99425|0.99425	4.56|4.56	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.87578	.|0.998;0.996;0.996	D|D	0.98521|0.98521	1.0623|1.0623	5|9	.|.	.|.	.|.	.|.	18.2533|18.2533	0.90011|0.90011	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4845;3959;4902	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	N|T	2401|4845;4902;50;1458	.|ENSP00000262189:R4845T;ENSP00000347325:R4902T;ENSP00000439909:R50T;ENSP00000410411:R1458T	.|.	K|R	-|-	3|2	2|0	MLL3|MLL3	151467204|151467204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	7.534000|7.534000	0.82004|0.82004	2.382000|2.382000	0.81193|0.81193	0.650000|0.650000	0.86243|0.86243	AAG|AGG		0.567	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Missense_Mutation	11	48	0	0	0	1	0	11	48				
TPH2	121278	broad.mit.edu	37	12	72372850	72372850	+	Silent	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:72372850C>T	ENST00000333850.3	+	7	1065	c.924C>T	c.(922-924)ccC>ccT	p.P308P		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	308					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCTCAGATCCCCTCTACACCC	0.532																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(922-924)ccC>ccT		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						138.0	136.0	136.0					12																	72372850		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72372850C>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.924C>T	12.37:g.72372850C>T							p.P308P	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			7	1065	+			308					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.924C>T	CCDS31859.1																																																																																				0.532	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		10	123	0	0	0	1	0	10	123				
DNMT3B	1789	broad.mit.edu	37	20	31388677	31388677	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:31388677G>A	ENST00000328111.2	+	18	2263	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	648	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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						GGTGATTGGCGGAAGCCCATG	0.522																																						ENST00000328111.2																			0				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						c.(1942-1944)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 beta							185.0	187.0	186.0					20																	31388677		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.chr20:31388677G>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.1942G>A	20.37:g.31388677G>A	ENSP00000328547:p.Gly648Arg					DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R	p.G648R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			18	2263	+			648					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1942G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691842	0.96793	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.996;0.988;1.0;0.997;1.0;1.0	D	0.98850	1.0758	10	0.87932	D	0	-22.4387	19.2231	0.93806	0.0:0.0:1.0:0.0	.	552;586;347;640;628;628;648	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	R	648;628;628;586;552;628;640	ENSP00000328547:G648R;ENSP00000313397:G628R;ENSP00000337764:G628R;ENSP00000403169:G586R;ENSP00000412305:G552R;ENSP00000345105:G628R;ENSP00000201963:G640R	ENSP00000201963:G640R	G	+	1	0	DNMT3B	30852338	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.779000	0.99018	2.885000	0.99019	0.655000	0.94253	GGA		0.522	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		7	184	0	0	0	1	0	7	184				
SH3BP2	6452	broad.mit.edu	37	4	2822436	2822436	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr4:2822436G>C	ENST00000356331.5	+	2	353	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G59A|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G31A|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	31	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCCAAGGCTGGCTACCTGCAC	0.617									Cherubism																													ENST00000442312.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(175-177)gGc>gCc		SH3-domain binding protein 2							63.0	60.0	61.0					4																	2822436		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2822436G>C	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.92G>C	4.37:g.2822436G>C	ENSP00000348685:p.Gly31Ala					SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000356331.5_Missense_Mutation_p.G31A|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G31A	p.G59A	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	2	355	+			31			PH.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.176G>C	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580243	0.86645	.	.	ENSG00000087266	ENST00000452765;ENST00000389838;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.14	4.26	0.50523	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.82132	2.575	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;0.974;0.974	D;D;P;P	0.97110	1.0;0.999;0.807;0.807	D	0.88316	0.2959	10	0.87932	D	0	-32.3651	15.3096	0.74019	0.0:0.1402:0.8598:0.0	.	59;59;88;31	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	A	31;31;31;31;31;31;31;59;31;31;31;88;31	ENSP00000409746:G31A;ENSP00000374488:G31A;ENSP00000422796:G31A;ENSP00000423275:G31A;ENSP00000424917:G31A;ENSP00000424105:G31A;ENSP00000423823:G31A;ENSP00000388152:G59A;ENSP00000425537:G31A;ENSP00000403231:G31A;ENSP00000424846:G31A;ENSP00000422168:G88A;ENSP00000348685:G31A	ENSP00000348685:G31A	G	+	2	0	SH3BP2	2792234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.001000	0.76297	2.408000	0.81797	0.491000	0.48974	GGC		0.617	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		5	47	0	0	0	1	0	5	47				
PLXNA2	5362	broad.mit.edu	37	1	208218421	208218421	+	Missense_Mutation	SNP	G	G	C	rs543030636		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:208218421G>C	ENST00000367033.3	-	19	4387	c.3630C>G	c.(3628-3630)caC>caG	p.H1210Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1210	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCATGACCTTGTGCTGCCCGG	0.567																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3628-3630)caC>caG		plexin A2							113.0	93.0	99.0					1																	208218421		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208218421G>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3630C>G	1.37:g.208218421G>C	ENSP00000356000:p.His1210Gln						p.H1210Q	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	19	4387	-			1210			IPT/TIG 4.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3630C>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531355	0.27387	.	.	ENSG00000076356	ENST00000367033	T	0.77358	-1.09	5.22	4.31	0.51392	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.106321	0.64402	D	0.000003	T	0.65554	0.2702	L	0.37750	1.13	0.51012	D	0.999903	B	0.23990	0.095	B	0.23574	0.047	T	0.57648	-0.7775	10	0.17832	T	0.49	.	9.8414	0.41002	0.155:0.0:0.845:0.0	.	1210	O75051	PLXA2_HUMAN	Q	1210	ENSP00000356000:H1210Q	ENSP00000356000:H1210Q	H	-	3	2	PLXNA2	206285044	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.438000	0.66550	1.202000	0.43218	0.563000	0.77884	CAC		0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		12	30	0	0	0	1	0	12	30				
ACADS	35	broad.mit.edu	37	12	121164962	121164962	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:121164962G>A	ENST00000242592.4	+	2	331	c.180G>A	c.(178-180)gtG>gtA	p.V60V	ACADS_ENST00000411593.2_Silent_p.V60V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	60					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CAGCCCAGGTGGATAAGGAAC	0.562																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.(178-180)gtG>gtA		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						196.0	179.0	185.0					12																	121164962		2203	4300	6503	SO:0001819	synonymous_variant	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121164962G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.180G>A	12.37:g.121164962G>A						ACADS_ENST00000411593.2_Silent_p.V60V	p.V60V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			2	331	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	60					P78331	Silent	SNP	ENST00000242592.4	37	c.180G>A	CCDS9207.1																																																																																				0.562	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		20	121	0	0	0	1	0	20	121				
GMPR	2766	broad.mit.edu	37	6	16247181	16247181	+	Missense_Mutation	SNP	G	G	A	rs149627498	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:16247181G>A	ENST00000259727.4	+	2	310	c.196G>A	c.(196-198)Gtg>Atg	p.V66M		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	66					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GATGGCAGCCGTGATGTCACA	0.512													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19328	0.0		0.001	False		,,,				2504	0.0					ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(196-198)Gtg>Atg		guanosine monophosphate reductase		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	117.0	106.0	110.0		196	4.5	1.0	6	dbSNP_134	110	5,8595	4.3+/-15.6	0,5,4295	yes	missense	GMPR	NM_006877.3	21	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign	66/346	16247181	6,13000	2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16247181G>A		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.196G>A	6.37:g.16247181G>A	ENSP00000259727:p.Val66Met						p.V66M	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			2	310	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	66					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.196G>A	CCDS4537.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.10	3.026344	0.54683	2.27E-4	5.81E-4	ENSG00000137198	ENST00000259727	T	0.78707	-1.2	5.37	4.49	0.54785	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.170264	0.50627	D	0.000101	T	0.63402	0.2508	L	0.45285	1.41	0.58432	D	0.999999	P	0.48294	0.908	B	0.41571	0.36	T	0.71441	-0.4592	10	0.66056	D	0.02	5.064	13.8333	0.63393	0.0737:0.0:0.9263:0.0	.	66	P36959	GMPR1_HUMAN	M	66	ENSP00000259727:V66M	ENSP00000259727:V66M	V	+	1	0	GMPR	16355160	1.000000	0.71417	0.954000	0.39281	0.836000	0.47400	5.709000	0.68384	2.677000	0.91161	0.561000	0.74099	GTG		0.512	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			11	51	0	0	0	1	0	11	51				
PCDHA5	56143	broad.mit.edu	37	5	140202850	140202850	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:140202850G>A	ENST00000529859.1	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGGTGGGCGAG	0.672																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1489-1491)cGg>cAg									52.0	57.0	56.0					5																	140202850		2203	4299	6502	SO:0001583	missense	0							g.chr5:140202850G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1490G>A	5.37:g.140202850G>A	ENSP00000436557:p.Arg497Gln					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q	p.R497Q	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1490	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1490G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757618	0.31137	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.51325	0.71;0.71;0.71	3.86	2.89	0.33648	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21227	0.0511	N	0.10760	0.04	0.09310	N	0.999998	P;P;P	0.46512	0.681;0.879;0.849	B;B;B	0.35182	0.104;0.197;0.197	T	0.02326	-1.1176	9	0.35671	T	0.21	.	6.3202	0.21213	0.0:0.2017:0.5913:0.2071	.	497;497;497	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	Q	497	ENSP00000433416:R497Q;ENSP00000436557:R497Q;ENSP00000367366:R497Q	ENSP00000367366:R497Q	R	+	2	0	PCDHA5	140183034	0.008000	0.16893	0.988000	0.46212	0.982000	0.71751	1.856000	0.39389	1.864000	0.54056	0.461000	0.40582	CGG		0.672	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		6	80	0	0	0	1	0	6	80				
CRYGC	1420	broad.mit.edu	37	2	208994307	208994307	+	Missense_Mutation	SNP	C	C	T	rs140859599	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr2:208994307C>T	ENST00000282141.3	-	2	147	c.110G>A	c.(109-111)cGg>cAg	p.R37Q		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	37	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCTCTCCACCCGGATGGAGTT	0.587													C|||	6	0.00119808	0.0008	0.0058	5008	,	,		972	0.001		0.0	False		,,,				2504	0.0					ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(109-111)cGg>cAg		crystallin, gamma C		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	93.0	90.0		110	5.0	0.3	2	dbSNP_134	90	0,8600		0,0,4300	yes	missense	CRYGC	NM_020989.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	37/175	208994307	1,13005	2203	4300	6503	SO:0001583	missense	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994307C>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.110G>A	2.37:g.208994307C>T	ENSP00000282141:p.Arg37Gln						p.R37Q	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	147	-			37			Beta/gamma crystallin 'Greek key' 1.		Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	c.110G>A	CCDS2379.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.06	3.754629	0.69648	2.27E-4	0.0	ENSG00000163254	ENST00000282141	T	0.78481	-1.18	4.98	4.98	0.66077	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.064020	0.64402	D	0.000011	D	0.86686	0.5992	M	0.69823	2.125	0.58432	D	0.999995	D	0.76494	0.999	D	0.68353	0.957	D	0.88235	0.2906	10	0.87932	D	0	.	16.1101	0.81259	0.0:1.0:0.0:0.0	.	37	P07315	CRGC_HUMAN	Q	37	ENSP00000282141:R37Q	ENSP00000282141:R37Q	R	-	2	0	CRYGC	208702552	0.093000	0.21703	0.310000	0.25168	0.038000	0.13279	0.666000	0.25097	2.468000	0.83385	0.462000	0.41574	CGG		0.587	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		4	151	0	0	0	1	0	4	151				
SRSF1	6426	broad.mit.edu	37	17	56084419	56084419	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:56084419A>T	ENST00000258962.4	-	1	288	c.80T>A	c.(79-81)aTc>aAc	p.I27N	SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.I27N|SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N|SRSF1_ENST00000581497.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	27	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTGGTTCGGATGTCTGGAGG	0.587																																						ENST00000582730.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(79-81)aTc>aAc		serine/arginine-rich splicing factor 1							226.0	169.0	188.0					17																	56084419		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56084419A>T		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.80T>A	17.37:g.56084419A>T	ENSP00000258962:p.Ile27Asn					SRSF1_ENST00000258962.4_Missense_Mutation_p.I27N|SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N	p.I27N	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			1	203	-			27			RRM 1.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.80T>A	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867333	0.51588	.	.	ENSG00000136450	ENST00000258962	T	0.18174	2.23	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	M	0.88775	2.98	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.72982	0.979;0.969	T	0.57648	-0.7775	10	0.87932	D	0	.	15.6847	0.77400	1.0:0.0:0.0:0.0	.	59;27	Q59FA2;Q07955	.;SRSF1_HUMAN	N	27	ENSP00000258962:I27N	ENSP00000258962:I27N	I	-	2	0	SRSF1	53439418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.353000	0.90077	2.343000	0.79666	0.533000	0.62120	ATC		0.587	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		5	54	0	0	0	1	0	5	54				
ZHX2	22882	broad.mit.edu	37	8	123965724	123965724	+	Silent	SNP	C	C	T	rs199783339		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr8:123965724C>T	ENST00000314393.4	+	3	2809	c.1974C>T	c.(1972-1974)taC>taT	p.Y658Y		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	658					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCAGGAGTACGACCAGTTAG	0.542																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1972-1974)taC>taT		zinc fingers and homeoboxes 2							84.0	84.0	84.0					8																	123965724		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965724C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1974C>T	8.37:g.123965724C>T							p.Y658Y	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2809	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		658						Silent	SNP	ENST00000314393.4	37	c.1974C>T	CCDS6336.1																																																																																				0.542	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		11	65	0	0	0	1	0	11	65				
LCOR	84458	broad.mit.edu	37	10	98715014	98715014	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:98715014G>A	ENST00000371097.4	+	8	1183	c.637G>A	c.(637-639)Ggt>Agt	p.G213S	LCOR_ENST00000540664.1_Missense_Mutation_p.G213S|LCOR_ENST00000356016.3_Missense_Mutation_p.G213S|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.G213S			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	213					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CAGGGGAAATGGTGCACTCAG	0.423																																						ENST00000540664.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13						c.(637-639)Ggt>Agt		ligand dependent nuclear receptor corepressor							70.0	68.0	69.0					10																	98715014		2203	4300	6503	SO:0001583	missense	84458							g.chr10:98715014G>A		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.637G>A	10.37:g.98715014G>A	ENSP00000360138:p.Gly213Ser					LCOR_ENST00000356016.3_Missense_Mutation_p.G213S|LCOR_ENST00000371097.4_Missense_Mutation_p.G213S|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.G213S	p.G213S	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1				Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1180	+		Colorectal(252;0.162)						D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.637G>A	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834337	0.50951	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.34	5.34	0.76211	.	0.279604	0.37178	N	0.002208	T	0.43055	0.1230	N	0.08118	0	0.37750	D	0.925942	B;B	0.23058	0.047;0.079	B;B	0.25140	0.043;0.058	T	0.45454	-0.9260	9	0.54805	T	0.06	-3.922	19.4065	0.94649	0.0:0.0:1.0:0.0	.	213;213	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	S	213	.	ENSP00000348298:G213S	G	+	1	0	LCOR	98705004	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.955000	0.56715	2.663000	0.90544	0.650000	0.86243	GGT		0.423	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			4	54	0	0	0	1	0	4	54				
EMR3	84658	broad.mit.edu	37	19	14772884	14772884	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr19:14772884G>A	ENST00000253673.5	-	4	346	c.246C>T	c.(244-246)aaC>aaT	p.N82N	EMR3_ENST00000599900.1_De_novo_Start_OutOfFrame|EMR3_ENST00000344373.4_Intron|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	82	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AACACACAGCGTTAAATCCAC	0.378																																						ENST00000599900.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50								egf-like module containing, mucin-like, hormone receptor-like 3							178.0	154.0	162.0					19																	14772884		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14772884G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.246C>T	19.37:g.14772884G>A						EMR3_ENST00000253673.5_Silent_p.N82N|EMR3_ENST00000344373.4_Intron|EMR3_ENST00000443157.2_Intron				Q9BY15	EMR3_HUMAN			0	339	-									Translation_Start_Site	SNP	ENST00000253673.5	37		CCDS12315.1																																																																																				0.378	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		16	52	0	0	0	1	0	16	52				
SP1	6667	broad.mit.edu	37	12	53776771	53776771	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:53776771C>A	ENST00000327443.4	+	3	1138	c.1040C>A	c.(1039-1041)tCa>tAa	p.S347*	SP1_ENST00000426431.2_Nonsense_Mutation_p.S340*	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	347	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AGTGGATCATCAGGGACCAAC	0.498																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1018-1020)tCa>tAa		Sp1 transcription factor							97.0	93.0	94.0					12																	53776771		2203	4300	6503	SO:0001587	stop_gained	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776771C>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1040C>A	12.37:g.53776771C>A	ENSP00000329357:p.Ser347*					SP1_ENST00000327443.4_Nonsense_Mutation_p.S347*	p.S340*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1079	+			347			Ser/Thr-rich.|Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Nonsense_Mutation	SNP	ENST00000327443.4	37	c.1019C>A	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874899	0.72180	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	.	.	.	4.41	4.41	0.53225	.	0.228496	0.29046	N	0.013317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3072	0.82854	0.0:1.0:0.0:0.0	.	.	.	.	X	347;340	.	ENSP00000329357:S347X	S	+	2	0	SP1	52063038	0.323000	0.24643	1.000000	0.80357	0.961000	0.63080	2.188000	0.42612	2.471000	0.83476	0.467000	0.42956	TCA		0.498	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			3	34	1	0	6.4e-05	1	6.49697e-05	3	34				
ST8SIA2	8128	broad.mit.edu	37	15	92977487	92977487	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:92977487G>T	ENST00000268164.3	+	3	409	c.172G>T	c.(172-174)Gta>Tta	p.V58L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V37L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	58					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGCTGAAGTTGTAATAAACGG	0.438																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(172-174)Gta>Tta		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							129.0	122.0	124.0					15																	92977487		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92977487G>T	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.172G>T	15.37:g.92977487G>T	ENSP00000268164:p.Val58Leu					ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V37L	p.V58L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		3	409	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		58					Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.172G>T	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101757	0.37048	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.17213	2.29;2.54	5.65	5.65	0.86999	.	0.536026	0.19397	N	0.115271	T	0.09818	0.0241	N	0.08118	0	0.34432	D	0.698673	B;B	0.13145	0.007;0.003	B;B	0.11329	0.006;0.004	T	0.24368	-1.0162	10	0.22109	T	0.4	-2.1791	13.9537	0.64135	0.0722:0.0:0.9278:0.0	.	37;58	C6G488;Q92186	.;SIA8B_HUMAN	L	58;37	ENSP00000268164:V58L;ENSP00000437382:V37L	ENSP00000268164:V58L	V	+	1	0	ST8SIA2	90778491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.908000	0.56355	2.656000	0.90262	0.655000	0.94253	GTA		0.438	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		24	88	1	0	3.28513e-13	1	3.43912e-13	24	88				
C18orf8	29919	broad.mit.edu	37	18	21083629	21083629	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr18:21083629A>C	ENST00000269221.3	+	1	157	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	C18orf8_ENST00000590868.1_Missense_Mutation_p.Q16P	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	16						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGCCGGTGCAGTTCGAGAAG	0.731																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(46-48)cAg>cCg		chromosome 18 open reading frame 8							44.0	46.0	46.0					18																	21083629		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21083629A>C	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.47A>C	18.37:g.21083629A>C	ENSP00000269221:p.Gln16Pro					C18orf8_ENST00000590868.1_Missense_Mutation_p.Q16P	p.Q16P	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			1	157	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		16					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.47A>C	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429309	0.62844	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	.	.	.	4.54	3.29	0.37713	.	0.438446	0.25361	N	0.031233	T	0.43700	0.1259	L	0.36672	1.1	0.43080	D	0.994735	B;B	0.18310	0.016;0.027	B;B	0.22386	0.021;0.039	T	0.43669	-0.9377	9	0.49607	T	0.09	-13.3202	6.3813	0.21536	0.6804:0.1629:0.0:0.1567	.	16;16	Q96DM3;F5H2W0	MIC1_HUMAN;.	P	16	.	ENSP00000269221:Q16P	Q	+	2	0	C18orf8	19337627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.713000	0.61895	1.675000	0.50919	0.460000	0.39030	CAG		0.731	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		4	46	0	0	0	1	0	4	46				
EPHB3	2049	broad.mit.edu	37	3	184294719	184294719	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr3:184294719C>T	ENST00000330394.2	+	5	1554	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	368	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCTGGGTGGCCGGGATGACCT	0.587																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1102-1104)Cgg>Tgg		EPH receptor B3							106.0	107.0	107.0					3																	184294719		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294719C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1102C>T	3.37:g.184294719C>T	ENSP00000332118:p.Arg368Trp					EIF2B5_ENST00000444495.1_Intron	p.R368W	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1554	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		368			Fibronectin type-III 1.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1102C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203010	0.79127	.	.	ENSG00000182580	ENST00000330394	T	0.58797	0.31	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83926	0.5360	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89186	0.3547	10	0.87932	D	0	.	18.0153	0.89238	0.0:1.0:0.0:0.0	.	368	P54753	EPHB3_HUMAN	W	368	ENSP00000332118:R368W	ENSP00000332118:R368W	R	+	1	2	EPHB3	185777413	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.136000	0.50554	2.565000	0.86533	0.448000	0.29417	CGG		0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		4	122	0	0	0	1	0	4	122				
CUL2	8453	broad.mit.edu	37	10	35305223	35305223	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:35305223C>G	ENST00000374748.1	-	19	2097	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T	CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T|CUL2_ENST00000374746.1_Missense_Mutation_p.S595T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T			Q13617	CUL2_HUMAN	cullin 2	595					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTCTTTATAACTGACAGTTTC	0.353																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1783-1785)aGt>aCt		cullin 2							143.0	123.0	130.0					10																	35305223		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35305223C>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1784G>C	10.37:g.35305223C>G	ENSP00000363880:p.Ser595Thr					CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T|CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000374746.1_Missense_Mutation_p.S595T	p.S595T			Q13617	CUL2_HUMAN			19	2097	-			595					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1784G>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	3.262	-0.150889	0.06585	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.71	4.78	0.61160	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.087725	0.85682	D	0.000000	T	0.36468	0.0968	N	0.01417	-0.88	0.50039	D	0.999848	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.46638	-0.9177	10	0.02654	T	1	-8.6391	11.7344	0.51757	0.1379:0.7294:0.1327:0.0	.	595;614;595	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	T	595;595;595;595;538;595;614	ENSP00000363883:S595T;ENSP00000363880:S595T;ENSP00000363878:S595T;ENSP00000363881:S595T;ENSP00000363874:S595T;ENSP00000444856:S614T	ENSP00000363874:S595T	S	-	2	0	CUL2	35345229	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.353000	0.52247	2.697000	0.92050	0.591000	0.81541	AGT		0.353	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		22	48	0	0	0	1	0	22	48				
IFNA17	3451	broad.mit.edu	37	9	21227906	21227906	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:21227906A>T	ENST00000413767.2	-	1	315	c.267T>A	c.(265-267)aaT>aaA	p.N89K		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	89					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGCTGAAGAGATTGAAGGTCT	0.478																																						ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9						c.(265-267)aaT>aaA		interferon, alpha 17							59.0	61.0	60.0					9																	21227906		2203	4289	6492	SO:0001583	missense	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21227906A>T		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.267T>A	9.37:g.21227906A>T	ENSP00000411940:p.Asn89Lys						p.N89K	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	315	-			89					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	ENST00000413767.2	37	c.267T>A	CCDS6500.1	.	.	.	.	.	.	.	.	.	.	a	13.08	2.130501	0.37630	.	.	ENSG00000234829	ENST00000413767	T	0.03152	4.03	2.87	-0.589	0.11683	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.493922	0.21858	N	0.068063	T	0.07503	0.0189	M	0.91663	3.23	0.09310	N	1	B	0.22276	0.067	B	0.29077	0.098	T	0.30001	-0.9993	10	0.62326	D	0.03	.	2.0643	0.03599	0.1238:0.1954:0.4807:0.2	.	89	P01571	IFN17_HUMAN	K	89	ENSP00000411940:N89K	ENSP00000411940:N89K	N	-	3	2	IFNA17	21217906	0.000000	0.05858	0.005000	0.12908	0.585000	0.36419	-0.682000	0.05185	-0.259000	0.09432	-0.508000	0.04489	AAT		0.478	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		12	87	0	0	0	1	0	12	87				
GCNT1	2650	broad.mit.edu	37	9	79117309	79117309	+	Silent	SNP	G	G	A	rs555006203	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:79117309G>A	ENST00000376730.4	+	4	495	c.12G>A	c.(10-12)acG>acA	p.T4T	GCNT1_ENST00000442371.1_Silent_p.T4T|GCNT1_ENST00000488136.1_3'UTR|GCNT1_ENST00000536223.1_Silent_p.T4T|GCNT1_ENST00000444201.2_Silent_p.T4T	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	4					cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TGCTGAGGACGTTGCTGCGAA	0.423													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13162	0.0		0.0	False		,,,				2504	0.0					ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(10-12)acG>acA		glucosaminyl (N-acetyl) transferase 1, core 2							87.0	88.0	88.0					9																	79117309		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117309G>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.12G>A	9.37:g.79117309G>A						GCNT1_ENST00000536223.1_Silent_p.T4T|GCNT1_ENST00000444201.2_Silent_p.T4T|GCNT1_ENST00000488136.1_3'UTR|GCNT1_ENST00000376730.4_Silent_p.T4T	p.T4T	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	951	+			4					Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.12G>A	CCDS6653.1																																																																																				0.423	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		5	136	0	0	0	1	0	5	136				
C5orf51	285636	broad.mit.edu	37	5	41909968	41909968	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:41909968G>C	ENST00000381647.2	+	3	347	c.328G>C	c.(328-330)Gta>Cta	p.V110L	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	110										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAAATTTTAGTAAAGGAAAA	0.323																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(328-330)Gta>Cta		chromosome 5 open reading frame 51							38.0	41.0	40.0					5																	41909968		2190	4278	6468	SO:0001583	missense	285636							g.chr5:41909968G>C	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.328G>C	5.37:g.41909968G>C	ENSP00000371061:p.Val110Leu					C5orf51_ENST00000505931.2_3'UTR	p.V110L	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			3	347	+			110					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.328G>C	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333672	0.60853	.	.	ENSG00000205765	ENST00000381647	T	0.36699	1.24	5.18	4.31	0.51392	.	0.312145	0.34700	N	0.003757	T	0.27697	0.0681	N	0.24115	0.695	0.29360	N	0.864729	B	0.21905	0.062	B	0.28638	0.092	T	0.24476	-1.0159	10	0.56958	D	0.05	-35.4009	12.1841	0.54227	0.0793:0.0:0.9207:0.0	.	110	A6NDU8	CE051_HUMAN	L	110	ENSP00000371061:V110L	ENSP00000371061:V110L	V	+	1	0	C5orf51	41945725	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.386000	0.66238	1.185000	0.42971	0.655000	0.94253	GTA		0.323	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		3	50	0	0	0	1	0	3	50				
RP11-13J8.1	0	broad.mit.edu	37	2	201967217	201967218	+	lincRNA	DEL	AG	AG	-	rs371047928|rs368317583		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr2:201967217_201967218delAG	ENST00000448256.1	+	0	627_628																											aaaaaaaaaaagaaTTTGTTCT	0.46																																						ENST00000448256.1																			0																																																			0							g.chr2:201967217_201967218delAG																													2.37:g.201967217_201967218delAG														0	627_628	+									RNA	DEL	ENST00000448256.1	37																																																																																						0.460	RP11-13J8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347397.1			3	5						3	5	---	---	---	---
HLA-F-AS1	285830	broad.mit.edu	37	6	29709414	29709414	+	RNA	DEL	A	A	-	rs147024472		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:29709414delA	ENST00000458236.1	-	0	349									HLA-F antisense RNA 1																		tagtttccccatttcatagat	0.458																																						ENST00000458236.1																			0																																																			0							g.chr6:29709414delA	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29709414delA														0	349	-									RNA	DEL	ENST00000458236.1	37																																																																																						0.458	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		2	4						2	4	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141|rs71539975		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GGTCATGTAAGTTTTTTTTTTT	0.401																																						ENST00000486256.1																			0																																																			0							g.chr7:6775132_6775133insT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6775143_6775143dupT								NR_002217.1						0	833	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.401	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		4	6						4	6	---	---	---	---
BSNDP4	106481726	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG	rs367832782		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584																																						ENST00000605139.1																			0																																																			0							g.chr7:57698565_57698566insTGGG																													7.37:g.57698566_57698569dupTGGG														0	416	-									RNA	INS	ENST00000605139.1	37																																																																																						0.584	RP11-368M16.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468775.1			2	4						2	4	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.e2-2		zinc finger protein 658																																				SO:0001630	splice_region_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40789482_40789483insA	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.201-2->T	9.37:g.40789493_40789493dupA						ZNF658_ENST00000377626.3_Intron|ZNF658_ENST00000441795.1_Splice_Site				Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	2	94	-								Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Splice_Site	INS	ENST00000602553.1	37		CCDS35023.1																																																																																				0.426	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	Intron	2	4						2	4	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	871034	871034	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:871034delG	ENST00000316157.3	-	12	1495	c.1455delC	c.(1453-1455)ctcfs	p.L485fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	485					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAGAGGATTCGAGACTGCCTG	0.433																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1453-1455)ctfs		La ribonucleoprotein domain family, member 4B							82.0	85.0	84.0					10																	871034		2203	4300	6503	SO:0001589	frameshift_variant	23185						nucleotide binding|RNA binding	g.chr10:871034delG	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1455delC	10.37:g.871034delG	ENSP00000326128:p.Leu485fs						p.L485fs	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			12	1495	-			485					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	ENST00000316157.3	37	c.1455delC	CCDS31131.1																																																																																				0.433	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		18	81						18	81	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	4						6	4	---	---	---	---
ZNF724P	440519	broad.mit.edu	37	19	23406479	23406479	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr19:23406479delT	ENST00000418100.1	-	4	685	c.568delA	c.(568-570)agafs	p.R190fs				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GTGTGAATTCTTTTATGTTGA	0.338																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(568-570)gafs																																						SO:0001589	frameshift_variant	0							g.chr19:23406479delT			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.568delA	19.37:g.23406479delT	ENSP00000413411:p.Arg190fs						p.R190fs							4	685	-									Frame_Shift_Del	DEL	ENST00000418100.1	37	c.568delA																																																																																					0.338	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			2	4						2	4	---	---	---	---
