#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FBXO44	93611	broad.mit.edu	37	1	11718436	11718436	+	Silent	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:11718436C>T	ENST00000251547.5	+	3	460	c.378C>T	c.(376-378)ttC>ttT	p.F126F	FBXO44_ENST00000376770.1_Silent_p.F126F|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	126	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAATACTTCGTTACTTCAT	0.527																																						uc001asm.2		NA																	0				ovary(1)	1						c.(376-378)TTC>TTT		F-box protein 44 isoform 1							96.0	102.0	100.0					1																	11718436		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718436C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.378C>T	1.37:g.11718436C>T						FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_Silent_p.F126F|FBXO44_uc001asl.2_Silent_p.F126F|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Intron|FBXO44_uc010oas.1_Intron	p.F126F	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	504	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	126			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Silent	SNP	ENST00000251547.5	37	c.378C>T	CCDS132.1																																																																																				0.527	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		28	81	0	0	0	0	28	81				
Unknown	0	broad.mit.edu	37	1	13183780	13183780	+	IGR	SNP	A	A	C	rs116484938	byFrequency	TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:13183780A>C								RP13-221M14.3 (19312 upstream) : PRAMEF26 (32575 downstream)																							CCTCCACATCAGATTTCTTGA	0.468																																						uc010obg.1		NA																	0					0						c.(91-93)TCT>TCG		heterogeneous nuclear ribonucleoprotein C-like							60.0	43.0	48.0					1																	13183780		690	1587	2277	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183780A>C																													1.37:g.13183780A>C							p.S31S	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	188	-			31						Silent	SNP		37	c.93T>G																																																																																				0	0.468									7	68	0	0	0	0	7	68				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						uc009vos.1		NA																	0					0						c.e6+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T						NBPF1_uc010oce.1_Intron		NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.-35_splice																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	70	0	0	0	0	5	70				
JAK1	3716	broad.mit.edu	37	1	65332750	65332750	+	Silent	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:65332750C>T	ENST00000342505.4	-	7	1037	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	263	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCAGGTCATGCGTGGACACGC	0.398			Mis		ALL																																	uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(787-789)ACG>ACA		janus kinase 1							193.0	179.0	183.0					1																	65332750		1904	4133	6037	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65332750C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.789G>A	1.37:g.65332750C>T						JAK1_uc009wam.1_Silent_p.T251T	p.T263T	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	7	1038	-			263			FERM.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.789G>A	CCDS41346.1																																																																																				0.398	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		4	144	0	0	0	0	4	144				
CSF1	1435	broad.mit.edu	37	1	110466699	110466699	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:110466699G>A	ENST00000329608.6	+	6	1847	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	CSF1_ENST00000344188.5_Missense_Mutation_p.E370K|CSF1_ENST00000369801.1_Missense_Mutation_p.E370K|CSF1_ENST00000369802.3_Missense_Mutation_p.E486K|CSF1_ENST00000420111.2_Missense_Mutation_p.E188K	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	486					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGCAGTCCGAGGGATCCTT	0.612																																						uc001dyu.2		NA																	0				ovary(1)	1						c.(1456-1458)GAG>AAG		colony stimulating factor 1 isoform a precursor							58.0	61.0	60.0					1																	110466699		2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466699G>A	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1456G>A	1.37:g.110466699G>A	ENSP00000327513:p.Glu486Lys					CSF1_uc001dyt.2_Missense_Mutation_p.E370K|CSF1_uc001dyv.3_Missense_Mutation_p.E188K|CSF1_uc001dyw.3_Missense_Mutation_p.E486K	p.E486K	NM_172212	NP_757351	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1869	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	486			Lumenal (Potential).		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.1456G>A	CCDS816.1	.	.	.	.	.	.	.	.	.	.	G	4.347	0.063826	0.08388	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	4.82	0.00241	0.14050	.	1.911050	0.02940	N	0.140332	T	0.02119	0.0066	L	0.33485	1.01	0.09310	N	1	B;B;B	0.19817	0.001;0.039;0.01	B;B;B	0.16722	0.001;0.016;0.002	T	0.41734	-0.9492	10	0.27082	T	0.32	.	1.2578	0.01995	0.222:0.1661:0.4422:0.1698	.	188;486;370	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	K	370;486;486;188;370	ENSP00000342718:E370K;ENSP00000327513:E486K;ENSP00000358817:E486K;ENSP00000407317:E188K;ENSP00000358816:E370K	ENSP00000327513:E486K	E	+	1	0	CSF1	110268222	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.094000	0.15107	0.011000	0.14865	0.467000	0.42956	GAG		0.612	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		20	61	0	0	0	0	20	61				
HRNR	388697	broad.mit.edu	37	1	152188507	152188507	+	Silent	SNP	A	A	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:152188507A>T	ENST00000368801.2	-	3	5673	c.5598T>A	c.(5596-5598)ggT>ggA	p.G1866G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1866					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAAGACTGACCTGAGCCAG	0.582																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(5596-5598)GGT>GGA		hornerin							404.0	646.0	565.0					1																	152188507		2171	4297	6468	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188507A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5598T>A	1.37:g.152188507A>T							p.G1866G	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5674	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1866			20		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.5598T>A	CCDS30859.1																																																																																				0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		38	667	0	0	0	0	38	667				
TRIM46	80128	broad.mit.edu	37	1	155152367	155152367	+	Silent	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:155152367C>T	ENST00000334634.4	+	8	1545	c.1545C>T	c.(1543-1545)ggC>ggT	p.G515G	TRIM46_ENST00000368382.1_Silent_p.G492G|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Silent_p.G389G|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368385.4_Silent_p.G515G|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Silent_p.G515G	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	515	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGGCTACGGCGAATACAGTG	0.657																																						uc001fhs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1543-1545)GGC>GGT		tripartite motif-containing 46							30.0	32.0	31.0					1																	155152367		2203	4300	6503	SO:0001819	synonymous_variant	80128					intracellular	zinc ion binding	g.chr1:155152367C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1545C>T	1.37:g.155152367C>T						RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.G515G|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.G389G|TRIM46_uc001fhu.1_Silent_p.G492G|TRIM46_uc009wpg.1_Silent_p.G502G|TRIM46_uc001fhv.3_Silent_p.G502G|TRIM46_uc001fhw.1_RNA	p.G515G	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1628	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		515			Fibronectin type-III.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	c.1545C>T	CCDS1097.1																																																																																				0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		8	25	0	0	0	0	8	25				
ISG20L2	81875	broad.mit.edu	37	1	156696882	156696882	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:156696882C>T	ENST00000313146.6	-	1	1345	c.563G>A	c.(562-564)gGc>gAc	p.G188D	ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|ISG20L2_ENST00000368219.1_Missense_Mutation_p.G188D	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	188	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTCCTGTGCCCACCATCTC	0.517											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fps.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(562-564)GGC>GAC		interferon stimulated exonuclease gene							183.0	145.0	158.0					1																	156696882		2203	4300	6503	SO:0001583	missense	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156696882C>T	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.563G>A	1.37:g.156696882C>T	ENSP00000323424:p.Gly188Asp		OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1780	ISG20L2_uc001fpt.1_Missense_Mutation_p.G188D|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	p.G188D	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN			1	824	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		188			Exonuclease.		D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	c.563G>A	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651374	0.88056	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.50548	0.74;0.74	5.17	4.26	0.50523	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.70911	0.3278	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80286	-0.1446	10	0.72032	D	0.01	.	12.5129	0.56015	0.0:0.9193:0.0:0.0807	.	188	Q9H9L3	I20L2_HUMAN	D	188	ENSP00000323424:G188D;ENSP00000357202:G188D	ENSP00000323424:G188D	G	-	2	0	ISG20L2	154963506	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.431000	0.80335	1.423000	0.47198	-0.136000	0.14681	GGC		0.517	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		4	164	0	0	0	0	4	164				
FAM58BP	339521	broad.mit.edu	37	1	200183318	200183318	+	IGR	SNP	C	C	T	rs375297284		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:200183318C>T								NR5A2 (36766 upstream) : RP11-532L16.3 (101244 downstream)																							TCTATGGAGTCGAGGTGCCCG	0.597																																						uc009wzi.1		NA																	0					0						c.(625-627)GTC>GTT		family with sequence similarity 58 member B		C		0,4406		0,0,2203	52.0	56.0	55.0		627	-2.1	0.0	1		55	1,8599		0,1,4299	no	coding-synonymous	FAM58BP	NM_001105517.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		209/253	200183318	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183318C>T																													1.37:g.200183318C>T							p.V209V	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	663	+	Prostate(682;0.19)		209						Silent	SNP		37	c.627C>T																																																																																				0	0.597									7	39	0	0	0	0	7	39				
DYDC2	84332	broad.mit.edu	37	10	82126495	82126495	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr10:82126495G>A	ENST00000372199.1	+	6	920	c.322G>A	c.(322-324)Gac>Aac	p.D108N	DYDC2_ENST00000372197.1_Missense_Mutation_p.D108N|DYDC2_ENST00000256039.2_Missense_Mutation_p.D108N|DYDC2_ENST00000444807.2_Missense_Mutation_p.D108N|DYDC2_ENST00000372198.1_Missense_Mutation_p.D122N			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	108										breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CATGCAGGAGGACACAAACCC	0.438																																						uc001kca.1		NA																	0					0						c.(322-324)GAC>AAC		DPY30 domain containing 2							125.0	129.0	128.0					10																	82126495		2203	4300	6503	SO:0001583	missense	84332						protein binding	g.chr10:82126495G>A	BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.322G>A	10.37:g.82126495G>A	ENSP00000361273:p.Asp108Asn					DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.D108N	p.D108N	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Colorectal(32;0.229)		5	702	+			108					D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	ENST00000372199.1	37	c.322G>A	CCDS7367.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278680	0.23307	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000411538;ENST00000256039	T;T;T;T;T	0.46819	0.88;0.86;0.88;0.88;0.88	4.68	0.169	0.15017	.	1.017240	0.07842	N	0.963242	T	0.20170	0.0485	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22977	-1.0201	10	0.12766	T	0.61	-3.2365	3.5905	0.07986	0.4379:0.2075:0.3546:0.0	.	108	Q96IM9	DYDC2_HUMAN	N	108;122;108;108;108;108	ENSP00000361273:D108N;ENSP00000361272:D122N;ENSP00000361271:D108N;ENSP00000410285:D108N;ENSP00000256039:D108N	ENSP00000256039:D108N	D	+	1	0	DYDC2	82116475	0.081000	0.21417	0.001000	0.08648	0.325000	0.28411	0.770000	0.26618	0.027000	0.15297	0.655000	0.94253	GAC		0.438	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372		4	147	0	0	0	0	4	147				
WAPAL	23063	broad.mit.edu	37	10	88277386	88277386	+	Silent	SNP	T	T	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr10:88277386T>C	ENST00000298767.5	-	2	913	c.441A>G	c.(439-441)acA>acG	p.T147T		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	147	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CAATTCGGTTTGTGCTCTTTT	0.363																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(439-441)ACA>ACG		wings apart-like homolog							133.0	125.0	128.0					10																	88277386		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88277386T>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.441A>G	10.37:g.88277386T>C						WAPAL_uc001kdn.2_Silent_p.T190T|WAPAL_uc009xsw.2_Silent_p.T147T|WAPAL_uc010qmh.1_Silent_p.T147T|WAPAL_uc010qmi.1_Silent_p.T184T|WAPAL_uc010qmj.1_Silent_p.T147T	p.T147T	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			2	883	-			147			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.441A>G	CCDS7375.1																																																																																				0.363	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		3	76	0	0	0	0	3	76				
FAM178A	55719	broad.mit.edu	37	10	102689617	102689617	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr10:102689617T>G	ENST00000238961.4	+	8	2738	c.2196T>G	c.(2194-2196)atT>atG	p.I732M	FAM178A_ENST00000370269.3_Missense_Mutation_p.I732M	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	732						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CAGTTACAATTGATGCTATTC	0.294																																						uc001krt.3		NA																	0					0						c.(2194-2196)ATT>ATG		hypothetical protein LOC55719 isoform 1							42.0	47.0	45.0					10																	102689617		2201	4279	6480	SO:0001583	missense	55719							g.chr10:102689617T>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2196T>G	10.37:g.102689617T>G	ENSP00000238961:p.Ile732Met					FAM178A_uc001krs.2_Missense_Mutation_p.I732M	p.I732M	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			8	2738	+			732					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.2196T>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216985	0.39201	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.32023	1.48;1.47	5.5	3.18	0.36537	.	1.112010	0.06537	N	0.742502	T	0.17789	0.0427	N	0.08118	0	0.22500	N	0.99905	P;P	0.40834	0.603;0.73	B;B	0.39258	0.295;0.295	T	0.16867	-1.0388	10	0.46703	T	0.11	-0.2391	6.5682	0.22523	0.1382:0.075:0.0:0.7869	.	732;732	Q8IX21;B1AL17	F178A_HUMAN;.	M	732	ENSP00000238961:I732M;ENSP00000359292:I732M	ENSP00000238961:I732M	I	+	3	3	FAM178A	102679607	0.385000	0.25172	0.947000	0.38551	0.972000	0.66771	0.109000	0.15417	0.520000	0.28426	0.533000	0.62120	ATT		0.294	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			12	56	0	0	0	0	12	56				
KNDC1	85442	broad.mit.edu	37	10	135015084	135015084	+	Silent	SNP	C	C	T	rs142572566		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr10:135015084C>T	ENST00000304613.3	+	17	3090	c.3069C>T	c.(3067-3069)gaC>gaT	p.D1023D	KNDC1_ENST00000368571.2_Silent_p.D958D|KNDC1_ENST00000368572.2_Silent_p.D1025D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1023					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGACTCGGACGCACTGTCAC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16201	0.0		0.001	False		,,,				2504	0.0					uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3067-3069)GAC>GAT		kinase non-catalytic C-lobe domain (KIND)		C		0,4406		0,0,2203	58.0	67.0	64.0		3069	-8.7	0.0	10	dbSNP_134	64	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	KNDC1	NM_152643.6		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1023/1750	135015084	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015084C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3069C>T	10.37:g.135015084C>T						KNDC1_uc001lma.1_Silent_p.D958D|KNDC1_uc001lmb.1_Silent_p.D435D	p.D1023D	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3070	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1023					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3069C>T	CCDS7674.1																																																																																				0.627	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		13	55	0	0	0	0	13	55				
ARL14EP	120534	broad.mit.edu	37	11	30358279	30358279	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr11:30358279G>T	ENST00000282032.3	+	4	935	c.720G>T	c.(718-720)aaG>aaT	p.K240N		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	240						cytoplasm (GO:0005737)											GTGACCGCAAGTGGCTGTATG	0.443																																						uc001mso.1		NA																	0					0						c.(718-720)AAG>AAT		hypothetical protein LOC120534							161.0	140.0	147.0					11																	30358279		2202	4299	6501	SO:0001583	missense	120534							g.chr11:30358279G>T	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.720G>T	11.37:g.30358279G>T	ENSP00000282032:p.Lys240Asn					C11orf46_uc001msp.2_5'Flank	p.K240N	NM_152316	NP_689529	Q8N8R7	CK046_HUMAN			4	884	+			240					Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	c.720G>T	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119378	0.77323	.	.	ENSG00000152219	ENST00000282032	T	0.68025	-0.3	5.41	3.52	0.40303	.	0.093250	0.64402	D	0.000001	T	0.64832	0.2634	M	0.74467	2.265	0.80722	D	1	P	0.39250	0.665	B	0.36608	0.229	T	0.71083	-0.4695	10	0.66056	D	0.02	-33.9925	12.3408	0.55093	0.1954:0.0:0.8046:0.0	.	240	Q8N8R7	CK046_HUMAN	N	240	ENSP00000282032:K240N	ENSP00000282032:K240N	K	+	3	2	C11orf46	30314855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.738000	0.62073	1.435000	0.47434	-0.137000	0.14449	AAG		0.443	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		16	100	1	0	1.03e-11	1.13e-11	16	100				
PRG2	5553	broad.mit.edu	37	11	57154973	57154973	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr11:57154973C>A	ENST00000311862.5	-	6	717	c.644G>T	c.(643-645)aGa>aTa	p.R215I	PRG2_ENST00000525955.1_Missense_Mutation_p.R215I|PRG2_ENST00000533605.1_Missense_Mutation_p.R204I	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	215	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GAAAGGAAGTCTTCTGAGGCA	0.602																																						uc001njz.2		NA																	0				central_nervous_system(1)	1						c.(643-645)AGA>ATA		proteoglycan 2 preproprotein	Sargramostim(DB00020)						73.0	72.0	72.0					11																	57154973		2201	4296	6497	SO:0001583	missense	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57154973C>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.644G>T	11.37:g.57154973C>A	ENSP00000312134:p.Arg215Ile					PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.R215I|PRG2_uc001nkb.2_Missense_Mutation_p.R215I|PRG2_uc001nkd.2_Missense_Mutation_p.R204I|PRG2_uc001nkc.2_Missense_Mutation_p.R215I|PRG2_uc001nke.2_Missense_Mutation_p.R495I	p.R215I	NM_002728	NP_002719	P13727	PRG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	671	-			215			C-type lectin.		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.644G>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142766	0.37825	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.19669	2.13;2.13;2.13	4.74	0.638	0.17742	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.898924	0.08890	N	0.878783	T	0.28001	0.0690	M	0.71296	2.17	0.09310	N	1	B;P	0.45396	0.121;0.857	B;P	0.45946	0.149;0.498	T	0.19778	-1.0295	10	0.66056	D	0.02	.	6.2781	0.20991	0.0:0.5429:0.0:0.4571	.	204;215	A6XMW0;P13727	.;PRG2_HUMAN	I	215;204;215	ENSP00000312134:R215I;ENSP00000433231:R204I;ENSP00000433016:R215I	ENSP00000312134:R215I	R	-	2	0	PRG2	56911549	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.707000	0.01893	0.062000	0.16340	-0.128000	0.14901	AGA		0.602	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		9	44	1	0	3.1e-07	3.39e-07	9	44				
PRICKLE1	144165	broad.mit.edu	37	12	42866219	42866219	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:42866219C>T	ENST00000455697.1	-	2	385	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.A34T|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.A34T|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.A34T|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.A34T	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	34	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGGACCCAGGCGTACTCCTCC	0.478																																						uc010skv.1		NA																	0				ovary(3)|skin(1)	4						c.(100-102)GCC>ACC		prickle homolog 1							79.0	75.0	77.0					12																	42866219		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42866219C>T	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.100G>A	12.37:g.42866219C>T	ENSP00000401060:p.Ala34Thr					PRICKLE1_uc001rnl.2_Missense_Mutation_p.A34T|PRICKLE1_uc010skw.1_Missense_Mutation_p.A34T|PRICKLE1_uc001rnm.2_Missense_Mutation_p.A34T|PRICKLE1_uc009zka.2_Missense_Mutation_p.A30T	p.A34T	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	2	387	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		34			PET.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.100G>A	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261482	0.39995	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108;ENST00000551050;ENST00000547113	D;D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.27	4.31	0.51392	PET domain (2);	0.101536	0.64402	D	0.000002	T	0.70736	0.3258	N	0.04132	-0.27	0.58432	D	0.999997	B	0.21688	0.059	B	0.27608	0.081	T	0.65569	-0.6136	10	0.27785	T	0.31	-10.1069	7.5214	0.27631	0.2785:0.644:0.0:0.0774	.	34	Q96MT3	PRIC1_HUMAN	T	34	ENSP00000401060:A34T;ENSP00000398947:A34T;ENSP00000448359:A34T;ENSP00000345064:A34T;ENSP00000449819:A34T;ENSP00000447870:A34T;ENSP00000446970:A34T;ENSP00000446699:A34T	ENSP00000345064:A34T	A	-	1	0	PRICKLE1	41152486	0.927000	0.31430	0.995000	0.50966	0.839000	0.47603	1.936000	0.40183	2.614000	0.88457	0.655000	0.94253	GCC		0.478	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			11	43	0	0	0	0	11	43				
PA2G4	5036	broad.mit.edu	37	12	56504766	56504766	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:56504766G>C	ENST00000303305.6	+	10	1280	c.861G>C	c.(859-861)aaG>aaC	p.K287N	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	287					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAGATGAGAAGAAGGCTCGGA	0.428																																						uc001sjm.2		NA																	0					0						c.(859-861)AAG>AAC		ErbB3-binding protein 1							62.0	59.0	60.0					12																	56504766		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56504766G>C	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.861G>C	12.37:g.56504766G>C	ENSP00000302886:p.Lys287Asn					PA2G4_uc009zol.2_Missense_Mutation_p.K287N|PA2G4_uc009zom.2_Intron	p.K287N	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		10	1280	+			287					O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.861G>C	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282794	0.40394	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	4.81	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (1);	0.260506	0.44097	D	0.000482	T	0.60495	0.2273	M	0.70842	2.15	0.80722	D	1	B;B	0.23316	0.036;0.083	B;B	0.19666	0.026;0.017	T	0.61187	-0.7113	9	0.52906	T	0.07	.	12.3001	0.54870	0.0841:0.0:0.9159:0.0	.	287;287	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	N	287;316;287	.	ENSP00000302886:K287N	K	+	3	2	PA2G4	54791033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.127000	0.57944	1.155000	0.42497	-0.140000	0.14226	AAG		0.428	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		7	39	0	0	0	0	7	39				
PA2G4	5036	broad.mit.edu	37	12	56505295	56505295	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:56505295G>C	ENST00000303305.6	+	12	1520	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	367	Interaction with RNA. {ECO:0000250}.|Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.Q367H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAAAACCCAGAAAAAGAAAA	0.393																																						uc001sjm.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1099-1101)CAG>CAC		ErbB3-binding protein 1							110.0	116.0	114.0					12																	56505295		2190	4298	6488	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505295G>C	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1101G>C	12.37:g.56505295G>C	ENSP00000302886:p.Gln367His					PA2G4_uc009zol.2_Intron|PA2G4_uc009zom.2_Intron	p.Q367H	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		12	1520	+			367			Necessary for nucleolar localization.|Interaction with RNA (By similarity).		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.1101G>C	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532628	0.45073	.	.	ENSG00000170515	ENST00000303305;ENST00000417031	.	.	.	5.43	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	M	0.68593	2.085	0.80722	D	1	D	0.57571	0.98	D	0.66979	0.948	T	0.66324	-0.5952	9	0.45353	T	0.12	.	9.8868	0.41266	0.2141:0.0:0.7859:0.0	.	367	Q9UQ80	PA2G4_HUMAN	H	367;396	.	ENSP00000302886:Q367H	Q	+	3	2	PA2G4	54791562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.232000	0.58645	0.436000	0.26393	0.655000	0.94253	CAG		0.393	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		22	104	0	0	0	0	22	104				
CHST11	50515	broad.mit.edu	37	12	105151235	105151235	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:105151235A>G	ENST00000303694.5	+	3	1152	c.713A>G	c.(712-714)gAg>gGg	p.E238G	CHST11_ENST00000549260.1_Missense_Mutation_p.E233G	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	238					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GTCAAATTCGAGGAGTTTGTG	0.567																																						uc001tkx.1		NA																	0					0						c.(712-714)GAG>GGG		carbohydrate sulfotransferase 11							148.0	120.0	130.0					12																	105151235		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151235A>G	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.713A>G	12.37:g.105151235A>G	ENSP00000305725:p.Glu238Gly					CHST11_uc001tky.2_Missense_Mutation_p.E233G|uc001tkz.2_5'Flank	p.E238G	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	1004	+			238			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.713A>G	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666877	0.47677	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.75821	-0.97;-0.97	5.42	5.42	0.78866	.	0.090564	0.85682	D	0.000000	T	0.69602	0.3129	L	0.49126	1.545	0.80722	D	1	P;P	0.41080	0.692;0.737	B;B	0.39531	0.302;0.245	T	0.68716	-0.5335	10	0.28530	T	0.3	-0.4889	15.4614	0.75359	1.0:0.0:0.0:0.0	.	233;238	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	G	233;238	ENSP00000450004:E233G;ENSP00000305725:E238G	ENSP00000305725:E238G	E	+	2	0	CHST11	103675365	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.201000	0.72124	2.065000	0.61736	0.533000	0.62120	GAG		0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		20	57	0	0	0	0	20	57				
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																						uc001tuk.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(364-366)GAT>GAG		deltex homolog 1							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			2	702	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			4	46	0	0	0	0	4	46				
PABPC3	5042	broad.mit.edu	37	13	25670487	25670487	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr13:25670487T>C	ENST00000281589.3	+	1	188	c.151T>C	c.(151-153)Tcc>Ccc	p.S51P		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	51	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CACCAGCGGCTCCTCCAACTA	0.562																																						uc001upy.2		NA																	0				ovary(3)|skin(1)	4						c.(151-153)TCC>CCC		poly(A) binding protein, cytoplasmic 3							84.0	80.0	81.0					13																	25670487		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670487T>C	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.151T>C	13.37:g.25670487T>C	ENSP00000281589:p.Ser51Pro						p.S51P	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	212	+		Lung SC(185;0.0225)|Breast(139;0.0602)	51			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.151T>C	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582919	0.46006	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.39274	U	0.001418	T	0.13586	0.0329	L	0.52759	1.655	0.45528	D	0.998483	D	0.67145	0.996	P	0.58172	0.834	T	0.03240	-1.1057	10	0.87932	D	0	.	5.327	0.15913	0.0:1.0E-4:0.0:0.9999	.	51	Q9H361	PABP3_HUMAN	P	51	ENSP00000281589:S51P	ENSP00000281589:S51P	S	+	1	0	PABPC3	24568487	0.999000	0.42202	0.130000	0.21974	0.050000	0.14768	5.455000	0.66658	0.469000	0.27268	0.254000	0.18369	TCC		0.562	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		12	53	0	0	0	0	12	53				
NID2	22795	broad.mit.edu	37	14	52473375	52473375	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr14:52473375G>A	ENST00000216286.5	-	20	3883	c.3884C>T	c.(3883-3885)aCc>aTc	p.T1295I	NID2_ENST00000541773.1_Missense_Mutation_p.T1194I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1295					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CAGTTTTTTGGTTCCTTTTAA	0.428																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3883-3885)ACC>ATC		nidogen 2 precursor							183.0	168.0	173.0					14																	52473375		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52473375G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3884C>T	14.37:g.52473375G>A	ENSP00000216286:p.Thr1295Ile					NID2_uc010tqs.1_Missense_Mutation_p.T1247I|NID2_uc010tqt.1_Missense_Mutation_p.T1295I	p.T1295I	NM_007361	NP_031387	Q14112	NID2_HUMAN			20	4118	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1295			LDL-receptor class B 4.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.3884C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081183	0.94050	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773	D;D	0.92911	-3.13;-3.13	5.99	5.99	0.97316	Six-bladed beta-propeller, TolB-like (1);	0.086643	0.85682	D	0.000000	D	0.96266	0.8782	M	0.81682	2.555	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;0.993	D;D;P	0.75020	0.978;0.985;0.778	D	0.94967	0.8113	10	0.41790	T	0.15	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	889;1194;1295	E7EPP3;Q14112-2;Q14112	.;.;NID2_HUMAN	I	1295;889;1194	ENSP00000216286:T1295I;ENSP00000443730:T1194I	ENSP00000216286:T1295I	T	-	2	0	NID2	51543125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.514000	0.98013	2.840000	0.97914	0.655000	0.94253	ACC		0.428	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			13	90	0	0	0	0	13	90				
RYR3	6263	broad.mit.edu	37	15	34150099	34150099	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:34150099G>A	ENST00000389232.4	+	99	14196	c.14126G>A	c.(14125-14127)tGc>tAc	p.C4709Y	RYR3_ENST00000415757.3_Missense_Mutation_p.C4704Y|RP11-3D4.3_ENST00000560404.1_RNA|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4709				C -> R (in Ref. 6; CAA52326). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATATGAAGTGCGACGACATG	0.592																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(14125-14127)TGC>TAC		ryanodine receptor 3							76.0	76.0	76.0					15																	34150099		2172	4286	6458	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34150099G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14126G>A	15.37:g.34150099G>A	ENSP00000373884:p.Cys4709Tyr					RYR3_uc010bar.2_Missense_Mutation_p.C4704Y	p.C4709Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	99	14196	+		all_lung(180;7.18e-09)	4709	C -> R (in Ref. 6; CAA52326).				O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.14126G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558518	0.86231	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92647	-3.08	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.993;1.0	D	0.98446	1.0589	10	0.87932	D	0	.	18.3173	0.90225	0.0:0.0:1.0:0.0	.	4704;4709	Q15413-2;Q15413	.;RYR3_HUMAN	Y	4709;4705	ENSP00000373884:C4709Y	ENSP00000354735:C4705Y	C	+	2	0	RYR3	31937391	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.441000	0.97557	2.624000	0.88883	0.655000	0.94253	TGC		0.592	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	41	0	0	0	0	6	41				
VPS18	57617	broad.mit.edu	37	15	41191580	41191580	+	Silent	SNP	C	C	G			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:41191580C>G	ENST00000220509.5	+	4	903	c.564C>G	c.(562-564)ctC>ctG	p.L188L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	188					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTCCGGATCTCTACTTCCGCC	0.602																																						uc001zne.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(562-564)CTC>CTG		vacuolar protein sorting 18							84.0	89.0	87.0					15																	41191580		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191580C>G	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.564C>G	15.37:g.41191580C>G							p.L188L	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	903	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	188					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.564C>G	CCDS10069.1																																																																																				0.602	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			14	72	0	0	0	0	14	72				
MAP1A	4130	broad.mit.edu	37	15	43816968	43816968	+	Silent	SNP	C	C	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:43816968C>A	ENST00000300231.5	+	4	3747	c.3297C>A	c.(3295-3297)gtC>gtA	p.V1099V	MAP1A_ENST00000382031.1_Silent_p.V1337V|MAP1A_ENST00000399453.1_Silent_p.V1099V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1099					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGCAATAGTCTTTGAGATTA	0.547																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(3295-3297)GTC>GTA		microtubule-associated protein 1A	Estramustine(DB01196)						84.0	86.0	86.0					15																	43816968		1936	4122	6058	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816968C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3297C>A	15.37:g.43816968C>A							p.V1099V	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	3764	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1099					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.3297C>A	CCDS42031.1																																																																																				0.547	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		18	76	1	0	4.54e-19	5.08e-19	18	76				
LRRK1	79705	broad.mit.edu	37	15	101589973	101589973	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:101589973G>A	ENST00000388948.3	+	23	3783	c.3424G>A	c.(3424-3426)Gat>Aat	p.D1142N	LRRK1_ENST00000284395.5_Missense_Mutation_p.D1139N|RP11-505E24.3_ENST00000558979.1_RNA|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTTGATTGATCAGTGGTT	0.463																																						uc002bwr.2		NA																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(3424-3426)GAT>AAT		leucine-rich repeat kinase 1							74.0	75.0	75.0					15																	101589973		1913	4132	6045	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101589973G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3424G>A	15.37:g.101589973G>A	ENSP00000373600:p.Asp1142Asn					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	p.D1142N	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		23	3743	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1142						Missense_Mutation	SNP	ENST00000388948.3	37	c.3424G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876084	0.91664	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.72725	-0.65;-0.68	5.63	5.63	0.86233	.	0.059905	0.64402	D	0.000004	T	0.72020	0.3409	L	0.36672	1.1	0.80722	D	1	D	0.56521	0.976	P	0.50109	0.631	T	0.74788	-0.3546	10	0.66056	D	0.02	.	19.677	0.95939	0.0:0.0:1.0:0.0	.	1142	Q38SD2	LRRK1_HUMAN	N	1142;1139	ENSP00000373600:D1142N;ENSP00000284395:D1139N	ENSP00000284395:D1139N	D	+	1	0	LRRK1	99407496	1.000000	0.71417	0.987000	0.45799	0.690000	0.40134	9.590000	0.98238	2.655000	0.90218	0.462000	0.41574	GAT		0.463	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		11	43	0	0	0	0	11	43				
TPSD1	23430	broad.mit.edu	37	16	1306807	1306807	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr16:1306807G>C	ENST00000211076.3	+	3	412	c.264G>C	c.(262-264)aaG>aaC	p.K88N	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.K81N	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	88	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GGGACATCAAGGATCTGGCCG	0.667																																						uc002clb.1		NA																	0					0						c.(262-264)AAG>AAC		tryptase delta 1 precursor							39.0	45.0	43.0					16																	1306807		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306807G>C	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.264G>C	16.37:g.1306807G>C	ENSP00000211076:p.Lys88Asn					TPSD1_uc010brm.1_Intron	p.K88N	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			3	273	+		Hepatocellular(780;0.00369)	88			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.264G>C	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	0.157	-1.085132	0.01873	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	T;T	0.81415	-1.49;-1.49	1.99	-3.98	0.04082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.895210	0.01033	N	0.004178	T	0.61098	0.2320	N	0.12502	0.225	0.09310	N	1	B	0.34241	0.444	B	0.34452	0.183	T	0.54503	-0.8284	10	0.18276	T	0.48	.	3.6637	0.08247	0.2183:0.0:0.426:0.3557	.	88	Q9BZJ3	TRYD_HUMAN	N	81;88	ENSP00000380668:K81N;ENSP00000211076:K88N	ENSP00000211076:K88N	K	+	3	2	TPSD1	1246808	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-4.945000	0.00167	-2.019000	0.00942	0.185000	0.17295	AAG		0.667	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			3	25	0	0	0	0	3	25				
MYO15A	51168	broad.mit.edu	37	17	18057108	18057108	+	Silent	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr17:18057108G>A	ENST00000205890.5	+	43	8324	c.7986G>A	c.(7984-7986)ctG>ctA	p.L2662L	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2662	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCGATCGCTGGAGCCCCCTG	0.527																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(7984-7986)CTG>CTA		myosin XV							32.0	34.0	33.0					17																	18057108		1895	4102	5997	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18057108G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7986G>A	17.37:g.18057108G>A						MYO15A_uc010vxi.1_5'UTR|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	p.L2662L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			42	8324	+	all_neural(463;0.228)		2662			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.7986G>A	CCDS42271.1																																																																																				0.527	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	33	0	0	0	0	4	33				
TANC2	26115	broad.mit.edu	37	17	61391920	61391920	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr17:61391920G>A	ENST00000424789.2	+	8	1113	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	RP11-269G24.2_ENST00000580253.1_RNA|AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.G370E	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	370					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTGATTGTGGGAAACATTGGA	0.498																																						uc002jal.3		NA																	0				ovary(2)	2						c.(1108-1110)GGA>GAA		tetratricopeptide repeat, ankyrin repeat and							123.0	126.0	125.0					17																	61391920		2072	4203	6275	SO:0001583	missense	26115						binding	g.chr17:61391920G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1109G>A	17.37:g.61391920G>A	ENSP00000387593:p.Gly370Glu					TANC2_uc010wpe.1_Missense_Mutation_p.G280E	p.G370E	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			8	1132	+			370					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1109G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688037	0.88639	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	D;D	0.88896	-2.44;-2.44	5.12	5.12	0.69794	.	.	.	.	.	D	0.94922	0.8358	M	0.82823	2.61	0.54753	D	0.999989	D;D	0.76494	0.999;0.997	D;D	0.81914	0.995;0.963	D	0.95426	0.8512	9	0.87932	D	0	.	18.9276	0.92552	0.0:0.0:1.0:0.0	.	370;370	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	E	370	ENSP00000374171:G370E;ENSP00000387593:G370E	ENSP00000374171:G370E	G	+	2	0	TANC2	58745652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.836000	0.86788	2.542000	0.85734	0.650000	0.86243	GGA		0.498	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			21	90	0	0	0	0	21	90				
FASN	2194	broad.mit.edu	37	17	80045301	80045301	+	Silent	SNP	C	C	T	rs146226779		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr17:80045301C>T	ENST00000306749.2	-	20	3341	c.3123G>A	c.(3121-3123)tcG>tcA	p.S1041S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1041					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGTGCTTGGCCGAGCCCAGGA	0.622																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	0				central_nervous_system(1)	1						c.(3121-3123)TCG>TCA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	T		0,4406		0,0,2203	162.0	121.0	135.0		3123	-7.1	0.0	17	dbSNP_134	135	1,8595	817.5+/-406.9	0,1,4297	no	coding-synonymous	FASN	NM_004104.4		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		1041/2512	80045301	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045301C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3123G>A	17.37:g.80045301C>T						FASN_uc002kdw.1_Silent_p.S257S	p.S1041S	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		20	3240	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1041					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.3123G>A	CCDS11801.1																																																																																				0.622	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		10	50	0	0	0	0	10	50				
LRRC30	339291	broad.mit.edu	37	18	7231177	7231177	+	Missense_Mutation	SNP	G	G	A	rs373650604		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr18:7231177G>A	ENST00000383467.2	+	1	55	c.41G>A	c.(40-42)gGc>gAc	p.G14D		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	14										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGGATAAGGGCCCCAAGAGG	0.632																																						uc010wzk.1		NA																	0				ovary(1)|liver(1)	2						c.(40-42)GGC>GAC		leucine rich repeat containing 30							58.0	63.0	62.0					18																	7231177		1992	4167	6159	SO:0001583	missense	339291							g.chr18:7231177G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.41G>A	18.37:g.7231177G>A	ENSP00000372959:p.Gly14Asp						p.G14D	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	41	+			14						Missense_Mutation	SNP	ENST00000383467.2	37	c.41G>A	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.909927	0.00508	.	.	ENSG00000206422	ENST00000383467	T	0.39787	1.06	5.66	-0.46	0.12175	.	0.686031	0.14843	N	0.295149	T	0.21103	0.0508	N	0.14661	0.345	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.26916	-1.0089	10	0.09084	T	0.74	.	11.2322	0.48918	0.6681:0.0:0.3319:0.0	.	14	A6NM36	LRC30_HUMAN	D	14	ENSP00000372959:G14D	ENSP00000372959:G14D	G	+	2	0	LRRC30	7221177	0.002000	0.14202	0.027000	0.17364	0.291000	0.27294	0.387000	0.20718	0.002000	0.14630	0.655000	0.94253	GGC		0.632	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		11	73	0	0	0	0	11	73				
MPPE1	65258	broad.mit.edu	37	18	11893497	11893497	+	Silent	SNP	G	G	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr18:11893497G>T	ENST00000588072.1	-	4	1581	c.360C>A	c.(358-360)atC>atA	p.I120I	MPPE1_ENST00000399978.2_Silent_p.I120I|MPPE1_ENST00000317235.7_Silent_p.I120I|MPPE1_ENST00000309976.9_Silent_p.I120I|MPPE1_ENST00000344987.7_Silent_p.I120I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	120					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CTTCATCAAAGATATCCCCCA	0.537																																						uc002kqf.2		NA																	0					0						c.(358-360)ATC>ATA		metallophosphoesterase 1 precursor							92.0	80.0	84.0					18																	11893497		2203	4300	6503	SO:0001819	synonymous_variant	65258				ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity	g.chr18:11893497G>T	BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.360C>A	18.37:g.11893497G>T						MPPE1_uc002kqn.2_Silent_p.I120I|MPPE1_uc002kqg.2_RNA|MPPE1_uc002kqh.2_RNA|MPPE1_uc002kqi.2_RNA|MPPE1_uc002kqj.2_Silent_p.I120I|MPPE1_uc002kqk.2_Silent_p.I120I|MPPE1_uc002kql.2_Silent_p.I120I|MPPE1_uc002kqm.2_Silent_p.I120I|MPPE1_uc010dla.1_Silent_p.I120I	p.I120I	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN			4	1001	-			120					B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Silent	SNP	ENST00000588072.1	37	c.360C>A	CCDS11853.1																																																																																				0.537	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075		17	32	1	0	1.56e-12	1.74e-12	17	32				
CYP4F12	66002	broad.mit.edu	37	19	15807840	15807840	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr19:15807840G>A	ENST00000550308.1	+	13	1900	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R507H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	507					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TTGATCATGCGCGCCGAGGGC	0.562																																						uc002nbl.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1519-1521)CGC>CAC		cytochrome P450, family 4, subfamily F,							55.0	60.0	58.0					19																	15807840		2198	4300	6498	SO:0001583	missense	66002							g.chr19:15807840G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1520G>A	19.37:g.15807840G>A	ENSP00000448998:p.Arg507His						p.R507H	NM_023944	NP_076433					13	1581	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1520G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.577628	0.45902	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.79845	-1.31;-1.31	2.31	2.31	0.28768	.	0.000000	0.64402	U	0.000011	D	0.86280	0.5895	M	0.82433	2.59	0.58432	D	0.999992	D	0.55800	0.973	P	0.56865	0.808	D	0.87625	0.2512	10	0.66056	D	0.02	.	10.711	0.45984	0.0:0.0:1.0:0.0	.	507	Q9HCS2	CP4FC_HUMAN	H	507	ENSP00000448998:R507H;ENSP00000321821:R507H	ENSP00000321821:R507H	R	+	2	0	CYP4F12	15668840	1.000000	0.71417	0.377000	0.26055	0.022000	0.10575	7.587000	0.82613	1.597000	0.50072	0.313000	0.20887	CGC		0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			9	41	0	0	0	0	9	41				
GNG8	94235	broad.mit.edu	37	19	47137457	47137457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr19:47137457G>T	ENST00000300873.4	-	2	91	c.89C>A	c.(88-90)tCg>tAg	p.S30*		NM_033258.1	NP_150283.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma 8	30					G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|phototransduction (GO:0007602)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		TGCTGCCTGCGACACCTGCGA	0.677																																					Colon(120;3580 4883)	uc010xyd.1		NA																	0					0						c.(88-90)TCG>TAG		guanine nucleotide binding protein (G protein),							36.0	36.0	36.0					19																	47137457		2201	4300	6501	SO:0001587	stop_gained	94235				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr19:47137457G>T	AF493875	CCDS12687.1	19q13.32	2008-07-10				ENSG00000167414			19664	protein-coding gene	gene with protein product						10819326	Standard	NM_033258		Approved		uc010xyd.2	Q9UK08		ENST00000300873.4:c.89C>A	19.37:g.47137457G>T	ENSP00000300873:p.Ser30*						p.S30*	NM_033258	NP_150283	Q9UK08	GBG8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)	2	89	-		Ovarian(192;0.0798)|all_neural(266;0.107)	30					B2R746|D3DTW5	Nonsense_Mutation	SNP	ENST00000300873.4	37	c.89C>A	CCDS12687.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009916	0.54361	.	.	ENSG00000167414	ENST00000300873	.	.	.	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5535	14.2686	0.66138	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	ENSP00000300873:S30X	S	-	2	0	GNG8	51829297	1.000000	0.71417	0.997000	0.53966	0.090000	0.18270	8.968000	0.93407	2.216000	0.71823	0.401000	0.26515	TCG		0.677	GNG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466587.1			6	11	1	0	0.00198382	0.00211806	6	11				
GRIN2D	2906	broad.mit.edu	37	19	48922614	48922614	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr19:48922614A>G	ENST00000263269.3	+	8	1947	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	620					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCACGGGCAAGCGTGAGTCC	0.597																																						uc002pjc.3		NA																	0				ovary(3)|breast(3)	6						c.(1858-1860)AAG>AGG		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						94.0	68.0	77.0					19																	48922614		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48922614A>G	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1859A>G	19.37:g.48922614A>G	ENSP00000263269:p.Lys620Arg					GRIN2D_uc010elx.2_5'UTR	p.K620R	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	8	1947	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	620			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.1859A>G	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428680	0.83667	.	.	ENSG00000105464	ENST00000263269	T	0.54279	0.58	4.38	4.38	0.52667	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	N	0.14661	0.345	0.51767	D	0.999938	D	0.76494	0.999	D	0.83275	0.996	T	0.56257	-0.8009	10	0.38643	T	0.18	.	13.0102	0.58727	1.0:0.0:0.0:0.0	.	620	O15399	NMDE4_HUMAN	R	620	ENSP00000263269:K620R	ENSP00000263269:K620R	K	+	2	0	GRIN2D	53614426	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	6.733000	0.74796	1.981000	0.57761	0.523000	0.50628	AAG		0.597	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			7	31	0	0	0	0	7	31				
ZNF543	125919	broad.mit.edu	37	19	57838010	57838010	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr19:57838010T>C	ENST00000321545.4	+	3	500	c.155T>C	c.(154-156)tTg>tCg	p.L52S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCTGTCCTTTGTTCAAACCA	0.493																																						uc002qoi.1		NA																	0				skin(1)|pancreas(1)	2						c.(154-156)TTG>TCG		zinc finger protein 543							80.0	74.0	76.0					19																	57838010		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57838010T>C	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.155T>C	19.37:g.57838010T>C	ENSP00000322545:p.Leu52Ser						p.L52S	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	500	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	52			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.155T>C	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	T	8.719	0.913830	0.17907	.	.	ENSG00000178229	ENST00000321545	T	0.00848	5.62	2.4	1.35	0.21983	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.04959	-0.14	0.09310	N	1	P	0.49961	0.93	B	0.42319	0.383	T	0.54241	-0.8323	9	0.54805	T	0.06	.	4.1228	0.10112	0.0:0.1779:0.0:0.8221	.	52	Q08ER8	ZN543_HUMAN	S	52	ENSP00000322545:L52S	ENSP00000322545:L52S	L	+	2	0	ZNF543	62529822	0.001000	0.12720	0.003000	0.11579	0.019000	0.09904	1.023000	0.30065	0.342000	0.23796	0.383000	0.25322	TTG		0.493	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		10	51	0	0	0	0	10	51				
RASGRP3	25780	broad.mit.edu	37	2	33764264	33764264	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr2:33764264G>T	ENST00000403687.3	+	12	2005	c.1265G>T	c.(1264-1266)aGg>aTg	p.R422M	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R422M|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R421M	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	422	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AAGCACATAAGGAAATTAGTG	0.517																																						uc002rox.2		NA																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(1264-1266)AGG>ATG		RAS guanyl releasing protein 3 (calcium and							51.0	49.0	50.0					2																	33764264		1902	4112	6014	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33764264G>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1265G>T	2.37:g.33764264G>T	ENSP00000384192:p.Arg422Met					RASGRP3_uc010ync.1_Missense_Mutation_p.R422M|RASGRP3_uc002roy.2_Missense_Mutation_p.R421M	p.R422M	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			13	1892	+	all_hematologic(175;0.115)		422			EF-hand 1.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1265G>T	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016901	0.54576	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.47869	0.83;0.83;0.83	5.89	5.0	0.66597	EF-hand-like domain (1);	0.050943	0.64402	D	0.000001	T	0.40094	0.1103	N	0.08118	0	0.41718	D	0.98949	P;P	0.37663	0.604;0.604	P;P	0.49708	0.62;0.62	T	0.49447	-0.8939	10	0.72032	D	0.01	-16.044	10.5585	0.45131	0.0684:0.0:0.7973:0.1344	.	421;422	D6W583;Q8IV61	.;GRP3_HUMAN	M	422;422;421	ENSP00000385886:R422M;ENSP00000384192:R422M;ENSP00000383917:R421M	ENSP00000385886:R422M	R	+	2	0	RASGRP3	33617768	1.000000	0.71417	0.993000	0.49108	0.897000	0.52465	3.517000	0.53443	1.448000	0.47680	0.655000	0.94253	AGG		0.517	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		3	10	1	0	0.00909568	0.00956731	3	10				
PLEKHH2	130271	broad.mit.edu	37	2	43902588	43902588	+	Intron	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr2:43902588G>A	ENST00000282406.4	+	3	233					NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCCTGAGCCGGTACAGGCCA	0.453																																						uc010fav.1		NA																	0					0						c.(874-876)CGG>TGG		C1GALT1-specific chaperone 1-like							81.0	77.0	79.0					2																	43902588		2023	4214	6237	SO:0001627	intron_variant	728819							g.chr2:43902588G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.124-3414G>A	2.37:g.43902588G>A						PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron	p.R292W	NM_001101330	NP_001094800					1	874	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)						Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.874C>T	CCDS1812.1																																																																																				0.453	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		4	51	0	0	0	0	4	51				
CHODL	140578	broad.mit.edu	37	21	19628972	19628972	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr21:19628972G>C	ENST00000299295.2	+	2	617	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	CHODL_ENST00000400127.1_Missense_Mutation_p.E35Q|CHODL_ENST00000400128.1_Missense_Mutation_p.E35Q|CHODL_ENST00000400131.1_Missense_Mutation_p.E35Q|CHODL_ENST00000338326.3_Missense_Mutation_p.E35Q|CHODL_ENST00000400135.1_Missense_Mutation_p.E35Q|CHODL_ENST00000543733.1_Missense_Mutation_p.E57Q	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	76	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GAATGAAGCAGAACAGAAGTT	0.512																																						uc002ykv.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(226-228)GAA>CAA		chondrolectin precursor							88.0	92.0	91.0					21																	19628972		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19628972G>C	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.226G>C	21.37:g.19628972G>C	ENSP00000299295:p.Glu76Gln					CHODL_uc002ykr.2_Missense_Mutation_p.E35Q|CHODL_uc002yks.2_Missense_Mutation_p.E35Q|CHODL_uc002ykt.2_Missense_Mutation_p.E35Q|CHODL_uc002yku.2_Missense_Mutation_p.E35Q	p.E76Q	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	2	617	+		all_epithelial(11;0.21)	76			Extracellular (Potential).|C-type lectin.		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.226G>C	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055792	0.93793	.	.	ENSG00000154645	ENST00000427223;ENST00000452759;ENST00000465099;ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.71	5.71	0.89125	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.85725	0.5763	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	P;D;D	0.91635	0.783;0.999;0.986	D	0.87480	0.2420	9	.	.	.	-14.9364	18.8396	0.92177	0.0:0.0:1.0:0.0	.	76;57;35	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	Q	35;35;35;35;35;35;35;76;35;57	ENSP00000382993:E35Q;ENSP00000382996:E35Q;ENSP00000383001:E35Q;ENSP00000382992:E35Q;ENSP00000299295:E76Q;ENSP00000339975:E35Q;ENSP00000443566:E57Q	.	E	+	1	0	CHODL	18550843	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.415000	0.97375	2.694000	0.91930	0.557000	0.71058	GAA		0.512	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		19	79	0	0	0	0	19	79				
PRODH	5625	broad.mit.edu	37	22	18906002	18906002	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr22:18906002A>C	ENST00000357068.6	-	11	1519	c.1254T>G	c.(1252-1254)gaT>gaG	p.D418E	PRODH_ENST00000420436.1_Missense_Mutation_p.D310E|PRODH_ENST00000334029.2_Missense_Mutation_p.D310E	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	418					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TGTCATAGGCATCCTGTGGGG	0.662																																						uc010grl.2		NA																	0				breast(1)	1						c.(1252-1254)GAT>GAG		proline dehydrogenase 1	L-Proline(DB00172)																																			SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18906002A>C	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.1254T>G	22.37:g.18906002A>C	ENSP00000349577:p.Asp418Glu					PRODH_uc002zoj.3_Missense_Mutation_p.D308E|PRODH_uc002zol.3_Missense_Mutation_p.D308E|PRODH_uc002zok.3_Missense_Mutation_p.D418E	p.D418E	NM_016335	NP_057419	O43272	PROD_HUMAN			11	1268	-			418					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.1254T>G	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	a	10.72	1.428961	0.25726	.	.	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.37411	1.2	3.97	-3.91	0.04168	Proline dehydrogenase (1);	0.099257	0.64402	N	0.000002	T	0.19287	0.0463	L	0.28608	0.87	0.31362	N	0.681251	B;B;B	0.18863	0.025;0.031;0.031	B;B;B	0.27262	0.027;0.078;0.046	T	0.11251	-1.0595	10	0.24483	T	0.36	-60.9216	5.2912	0.15727	0.2404:0.0:0.4763:0.2833	.	334;418;310	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	E	418;63	ENSP00000349577:D418E	ENSP00000318329:D63E	D	-	3	2	PRODH	17286002	0.001000	0.12720	0.989000	0.46669	0.994000	0.84299	-1.594000	0.02094	-0.679000	0.05217	0.444000	0.29173	GAT		0.662	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		3	21	0	0	0	0	3	21				
RGL4	266747	broad.mit.edu	37	22	24038844	24038844	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr22:24038844G>A	ENST00000290691.5	+	7	2300	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K	KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.R241K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	377	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AACCCCCAGAGAGTCCAGATG	0.652																																						uc002zxn.2		NA																	0				ovary(1)	1						c.(1129-1131)AGA>AAA		ral guanine nucleotide dissociation							41.0	42.0	42.0					22																	24038844		2203	4299	6502	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24038844G>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1130G>A	22.37:g.24038844G>A	ENSP00000290691:p.Arg377Lys					LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.R377K|RGL4_uc002zxp.1_Missense_Mutation_p.R241K|RGL4_uc002zxq.2_Missense_Mutation_p.R241K	p.R377K	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			7	2300	+			377			Ras-GEF.		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.1130G>A	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.678506	0.47886	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.28666	1.6;1.6;1.6	2.11	2.11	0.27256	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.232245	0.29715	N	0.011397	T	0.20901	0.0503	L	0.31294	0.92	0.19575	N	0.999963	B;B;B;B	0.22983	0.078;0.019;0.004;0.009	B;B;B;B	0.22152	0.038;0.038;0.026;0.01	T	0.20174	-1.0283	10	0.44086	T	0.13	.	10.2368	0.43288	0.0:0.0:1.0:0.0	.	241;241;377;377	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	K	241;377;377;377	ENSP00000383951:R241K;ENSP00000290691:R377K;ENSP00000402142:R377K	ENSP00000290691:R377K	R	+	2	0	RGL4	22368844	0.977000	0.34250	0.058000	0.19502	0.459000	0.32528	0.148000	0.16224	1.476000	0.48215	0.543000	0.68304	AGA		0.652	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		7	26	0	0	0	0	7	26				
CDC42EP1	11135	broad.mit.edu	37	22	37962716	37962716	+	Missense_Mutation	SNP	C	C	G	rs201030338		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr22:37962716C>G	ENST00000249014.4	+	2	780	c.360C>G	c.(358-360)atC>atG	p.I120M		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	120					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					AGAACGCCATCTCCCTGCCCC	0.692																																						uc003asz.3		NA																	0					0						c.(358-360)ATC>ATG		CDC42 effector protein 1							78.0	78.0	78.0					22																	37962716		2203	4300	6503	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962716C>G	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.360C>G	22.37:g.37962716C>G	ENSP00000249014:p.Ile120Met						p.I120M	NM_152243	NP_689449	Q00587	BORG5_HUMAN			2	763	+	Melanoma(58;0.0574)		120					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.360C>G	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124733	0.37533	.	.	ENSG00000128283	ENST00000249014	T	0.39229	1.09	5.43	3.1	0.35709	.	0.065013	0.64402	D	0.000013	T	0.47358	0.1441	L	0.41632	1.29	0.38286	D	0.94257	D	0.64830	0.994	P	0.60886	0.88	T	0.46638	-0.9177	10	0.35671	T	0.21	-22.7861	10.4636	0.44594	0.1059:0.6249:0.2692:0.0	.	120	Q00587	BORG5_HUMAN	M	120	ENSP00000249014:I120M	ENSP00000249014:I120M	I	+	3	3	CDC42EP1	36292662	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.321000	0.19558	1.254000	0.44035	0.563000	0.77884	ATC		0.692	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		16	82	0	0	0	0	16	82				
ZFYVE20	64145	broad.mit.edu	37	3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	rs147577833	byFrequency	TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562																																						uc003bzm.1		NA																	0				skin(2)	2						c.(1966-1968)CGC>CAC		FYVE-finger-containing Rab5 effector protein							121.0	122.0	122.0					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_uc010hek.1_Missense_Mutation_p.R656H	p.R656H	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			14	2581	-			656			Necessary for the interaction with RAB5A.|Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		4	102	0	0	0	0	4	102				
UBA3	9039	broad.mit.edu	37	3	69111272	69111272	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:69111272T>A	ENST00000361055.4	-	10	806	c.752A>T	c.(751-753)gAg>gTg	p.E251V	UBA3_ENST00000540295.1_Missense_Mutation_p.E74V|UBA3_ENST00000349511.4_Missense_Mutation_p.E237V|UBA3_ENST00000415609.2_Missense_Mutation_p.E210V	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	251					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CCTTACATACTCAATACAGTG	0.343																																						uc003dno.2		NA																	0				ovary(1)	1						c.(751-753)GAG>GTG		ubiquitin-activating enzyme 3 isoform 1							122.0	123.0	123.0					3																	69111272		2203	4300	6503	SO:0001583	missense	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69111272T>A	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.752A>T	3.37:g.69111272T>A	ENSP00000354340:p.Glu251Val					UBA3_uc003dnq.2_Missense_Mutation_p.E237V|UBA3_uc011bfy.1_Missense_Mutation_p.E74V|UBA3_uc011bfz.1_Missense_Mutation_p.E74V	p.E251V	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	10	772	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	251					A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	c.752A>T	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942043	0.92526	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.74	5.74	0.90152	Ubiquitin activating enzyme, alpha domain (1);Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.27123	-1.0083	10	0.36615	T	0.2	-12.063	16.0404	0.80679	0.0:0.0:0.0:1.0	.	237;251	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	V	210;251;237;74	ENSP00000400294:E210V;ENSP00000354340:E251V;ENSP00000340041:E237V;ENSP00000440085:E74V	ENSP00000340041:E237V	E	-	2	0	UBA3	69193962	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.990000	0.88215	2.181000	0.69327	0.533000	0.62120	GAG		0.343	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		20	74	0	0	0	0	20	74				
POLQ	10721	broad.mit.edu	37	3	121208235	121208235	+	Silent	SNP	A	A	G			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:121208235A>G	ENST00000264233.5	-	16	3671	c.3543T>C	c.(3541-3543)aaT>aaC	p.N1181N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1181					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCATATAAACATTCTGGTTTT	0.378								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3541-3543)AAT>AAC	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							229.0	232.0	231.0					3																	121208235		2202	4300	6502	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208235A>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3543T>C	3.37:g.121208235A>G						POLQ_uc003eed.2_Silent_p.N353N	p.N1181N	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3672	-			1181					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.3543T>C	CCDS33833.1																																																																																				0.378	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		7	204	0	0	0	0	7	204				
KALRN	8997	broad.mit.edu	37	3	124103747	124103747	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:124103747C>T	ENST00000240874.3	+	11	1977	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	KALRN_ENST00000360013.3_Missense_Mutation_p.T607M|KALRN_ENST00000460856.1_Missense_Mutation_p.T607M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	607					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGGCTCAGACGGGGGAATGT	0.577																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1819-1821)ACG>ATG		kalirin, RhoGEF kinase isoform 1							99.0	83.0	88.0					3																	124103747		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103747C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1820C>T	3.37:g.124103747C>T	ENSP00000240874:p.Thr607Met					KALRN_uc010hrv.1_Missense_Mutation_p.T607M|KALRN_uc003ehf.1_Missense_Mutation_p.T607M|KALRN_uc011bjy.1_Missense_Mutation_p.T607M|KALRN_uc003ehh.1_Translation_Start_Site	p.T607M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			11	1947	+			607			Spectrin 3.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1820C>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.881079|4.881079	0.91740|0.91740	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.|T;T;T;T	.|0.47177	.|0.85;0.85;0.95;0.85	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65354|0.65354	0.2683|0.2683	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.87578	.|0.982;0.998;0.969	T|T	0.67421|0.67421	-0.5675|-0.5675	5|10	.|0.87932	.|D	.|0	.|.	18.7751|18.7751	0.91908|0.91908	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|607;607;607	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	W|M	585|607;607;607;83	.|ENSP00000418611:T607M;ENSP00000240874:T607M;ENSP00000353109:T607M;ENSP00000402950:T83M	.|ENSP00000240874:T607M	R|T	+|+	1|2	2|0	KALRN|KALRN	125586437|125586437	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.992000|0.992000	0.81027|0.81027	7.606000|7.606000	0.82863|0.82863	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		7	53	0	0	0	0	7	53				
NCK1	4690	broad.mit.edu	37	3	136664745	136664745	+	Missense_Mutation	SNP	G	G	A	rs149750260		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:136664745G>A	ENST00000481752.1	+	3	711	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	NCK1_ENST00000288986.2_Missense_Mutation_p.V183I|NCK1_ENST00000469404.1_Missense_Mutation_p.V119I			P16333	NCK1_HUMAN	NCK adaptor protein 1	183					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGCAGCAGTCGTCAATAACCT	0.428																																						uc003erh.2		NA																	0				pancreas(1)	1						c.(547-549)GTC>ATC		NCK adaptor protein 1		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	190.0	186.0	187.0		355,547	6.2	1.0	3	dbSNP_134	187	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NCK1	NM_001190796.1,NM_006153.4	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	119/314,183/378	136664745	2,13004	2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664745G>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.547G>A	3.37:g.136664745G>A	ENSP00000417273:p.Val183Ile					NCK1_uc011bme.1_Missense_Mutation_p.V119I	p.V183I	NM_006153	NP_006144	P16333	NCK1_HUMAN			3	654	+			183					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.547G>A	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961761	0.53400	0.0	2.33E-4	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404	T;T;T	0.68181	-0.26;-0.26;-0.31	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.34521	1.04	0.58432	D	0.999996	B;B	0.17852	0.024;0.024	B;B	0.11329	0.006;0.003	T	0.49916	-0.8888	10	0.19147	T	0.46	-20.2706	18.3537	0.90348	0.0:0.0:1.0:0.0	.	119;183	B7Z751;P16333	.;NCK1_HUMAN	I	183;183;119	ENSP00000288986:V183I;ENSP00000417273:V183I;ENSP00000419631:V119I	ENSP00000288986:V183I	V	+	1	0	NCK1	138147435	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.836000	0.62789	2.937000	0.99478	0.650000	0.86243	GTC		0.428	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		27	114	0	0	0	0	27	114				
TUBB7P	56604	broad.mit.edu	37	4	190905409	190905409	+	IGR	SNP	C	C	T	rs577281997	byFrequency	TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr4:190905409C>T								FRG1 (21050 upstream) : RNA5SP174 (30883 downstream)																							CCGCAGCTCACGGGAAATGAA	0.657													.|||	5	0.000998403	0.0008	0.0	5008	,	,		12736	0.0		0.0	False		,,,				2504	0.0041					uc011clg.1		NA																	0					0						c.e3+1		tubulin, beta polypeptide 4, member Q							26.0	40.0	35.0					4																	190905409		2185	4293	6478	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190905409C>T																													4.37:g.190905409C>T							p.R92_splice	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	3	277	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)							Splice_Site	SNP		37	c.274_splice																																																																																				0	0.657									5	49	0	0	0	0	5	49				
TAF7	6879	broad.mit.edu	37	5	140698816	140698816	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr5:140698816C>T	ENST00000313368.5	-	1	1514	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	266					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTGTTCATCTGATTCA	0.448																																						uc003ljg.2		NA																	0					0						c.(796-798)GAA>AAA		TATA box-binding protein-associated factor 2F							269.0	248.0	255.0					5																	140698816		2203	4300	6503	SO:0001583	missense	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140698816C>T	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.796G>A	5.37:g.140698816C>T	ENSP00000312709:p.Glu266Lys						p.E266K	NM_005642	NP_005633	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1536	-			266			Potential.		B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	c.796G>A	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	C	1.118	-0.656175	0.03480	.	.	ENSG00000178913	ENST00000313368	T	0.24350	1.86	4.54	3.66	0.41972	.	0.252774	0.37136	N	0.002224	T	0.18257	0.0438	L	0.36672	1.1	0.25604	N	0.986563	B	0.23442	0.085	B	0.19666	0.026	T	0.08953	-1.0697	10	0.24483	T	0.36	-13.3804	10.3901	0.44164	0.0:0.9027:0.0:0.0973	.	266	Q15545	TAF7_HUMAN	K	266	ENSP00000312709:E266K	ENSP00000312709:E266K	E	-	1	0	TAF7	140679000	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	1.491000	0.35583	2.537000	0.85549	0.655000	0.94253	GAA		0.448	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		32	125	0	0	0	0	32	125				
PCDH12	51294	broad.mit.edu	37	5	141325324	141325324	+	Silent	SNP	C	C	T	rs375614422		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr5:141325324C>T	ENST00000231484.3	-	4	4387	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1059					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGAGTCTCGCCATCCAGG	0.667																																						uc003llx.2		NA																	0				ovary(3)	3						c.(3175-3177)GCG>GCA		protocadherin 12 precursor		C		0,4406		0,0,2203	46.0	49.0	48.0		3177	-4.0	0.6	5		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCDH12	NM_016580.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1059/1185	141325324	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141325324C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3177G>A	5.37:g.141325324C>T							p.A1059A	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	4388	-		all_hematologic(541;0.0999)	1059			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.3177G>A	CCDS4269.1																																																																																				0.667	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		20	56	0	0	0	0	20	56				
GFRAL	389400	broad.mit.edu	37	6	55223938	55223938	+	Splice_Site	SNP	T	T	C			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr6:55223938T>C	ENST00000340465.2	+	6	1038		c.e6+2			NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like						negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATGTTTCAGTAAGTTCCCCA	0.343																																						uc003pcm.1		NA																	0				ovary(1)|breast(1)	2						c.e6+2		GDNF family receptor alpha like precursor							51.0	51.0	51.0					6																	55223938		2203	4298	6501	SO:0001630	splice_region_variant	389400					integral to membrane	receptor activity	g.chr6:55223938T>C	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.952+2T>C	6.37:g.55223938T>C							p.N318_splice	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	1038	+	Lung NSC(77;0.0875)|Renal(3;0.122)							Q5VTF6	Splice_Site	SNP	ENST00000340465.2	37	c.952_splice	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532026	0.64972	.	.	ENSG00000187871	ENST00000340465	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6528	0.77110	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GFRAL	55331897	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.927000	0.56499	2.088000	0.63022	0.455000	0.32223	.		0.343	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	Intron	8	41	0	0	0	0	8	41				
GPRC6A	222545	broad.mit.edu	37	6	117128262	117128262	+	Silent	SNP	C	C	G			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr6:117128262C>G	ENST00000310357.3	-	3	627	c.606G>C	c.(604-606)ctG>ctC	p.L202L	GPRC6A_ENST00000368549.3_Silent_p.L202L|GPRC6A_ENST00000530250.1_Silent_p.L202L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	202					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTTCTGAATCAGGTGAGCCA	0.398																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(604-606)CTG>CTC		G protein-coupled receptor, family C, group 6,							181.0	185.0	184.0					6																	117128262		2203	4299	6502	SO:0001819	synonymous_variant	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128262C>G	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.606G>C	6.37:g.117128262C>G						GPRC6A_uc003pxk.1_Silent_p.L202L|GPRC6A_uc003pxl.1_Silent_p.L202L	p.L202L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	628	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	202			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	c.606G>C	CCDS5112.1																																																																																				0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			50	171	0	0	0	0	50	171				
MYB	4602	broad.mit.edu	37	6	135510957	135510957	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr6:135510957G>A	ENST00000367814.4	+	4	428	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	MYB_ENST00000533624.1_Missense_Mutation_p.R81Q|MYB_ENST00000534121.1_Missense_Mutation_p.R81Q|MYB_ENST00000442647.2_Missense_Mutation_p.R81Q|MYB_ENST00000341911.5_Missense_Mutation_p.R81Q|MYB_ENST00000527615.1_Missense_Mutation_p.R81Q|MYB_ENST00000528774.1_Missense_Mutation_p.R81Q|MYB_ENST00000316528.8_Missense_Mutation_p.R81Q|MYB_ENST00000420123.2_Missense_Mutation_p.R57Q|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Missense_Mutation_p.R81Q|MYB_ENST00000525369.1_Missense_Mutation_p.R81Q	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	81	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|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)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TGCCAGCACCGATGGCAGAAA	0.398			T	NFIB	adenoid cystic carcinoma																																	uc003qfc.2		NA		Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				lung(1)	1						c.(241-243)CGA>CAA		v-myb myeloblastosis viral oncogene homolog							114.0	125.0	121.0					6																	135510957		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135510957G>A		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.242G>A	6.37:g.135510957G>A	ENSP00000356788:p.Arg81Gln					MYB_uc003qfh.2_Missense_Mutation_p.R81Q|MYB_uc003qfi.2_Missense_Mutation_p.R81Q|MYB_uc010kgi.2_Missense_Mutation_p.R81Q|MYB_uc003qfq.2_Missense_Mutation_p.R81Q|MYB_uc010kgj.2_Missense_Mutation_p.R81Q|MYB_uc003qfo.2_Missense_Mutation_p.R81Q|MYB_uc003qfu.2_Missense_Mutation_p.R81Q|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.R81Q|MYB_uc003qgd.1_5'UTR	p.R81Q	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	4	441	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	81			HTH myb-type 1.|H-T-H motif (By similarity).		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.242G>A	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640990	0.96693	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T;T	0.55588	2.18;1.74;1.7;1.75;0.92;1.45;2.19;2.19;1.38;1.79;0.51	5.91	5.91	0.95273	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	H	0.98629	4.285	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.997;0.982;0.991;0.996;1.0;0.998;0.976;1.0;0.998	D	0.88998	0.3419	10	0.87932	D	0	-7.8809	20.3018	0.98617	0.0:0.0:1.0:0.0	.	81;81;81;81;81;81;81;81;81	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	Q	81;81;81;81;81;81;57;81;81;81;81;81;35	ENSP00000339992:R81Q;ENSP00000410825:R81Q;ENSP00000326328:R81Q;ENSP00000356788:R81Q;ENSP00000433227:R81Q;ENSP00000435938:R81Q;ENSP00000434723:R81Q;ENSP00000432851:R81Q;ENSP00000435055:R81Q;ENSP00000436605:R81Q;ENSP00000390460:R35Q	ENSP00000237302:R81Q	R	+	2	0	MYB	135552650	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.799000	0.96334	0.650000	0.86243	CGA		0.398	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			16	98	0	0	0	0	16	98				
KIAA1549	57670	broad.mit.edu	37	7	138601971	138601971	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr7:138601971C>T	ENST00000422774.1	-	2	2449	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E751K|KIAA1549_ENST00000440172.1_Missense_Mutation_p.E801K			Q9HCM3	K1549_HUMAN	KIAA1549	801						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGAAGACTCAGTTAAAATG	0.512			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(2401-2403)GAG>AAG		hypothetical protein LOC57670 isoform 1							70.0	75.0	73.0					7																	138601971		2085	4232	6317	SO:0001583	missense	57670					integral to membrane		g.chr7:138601971C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2401G>A	7.37:g.138601971C>T	ENSP00000416040:p.Glu801Lys					KIAA1549_uc003vuk.3_Missense_Mutation_p.E751K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E801K	p.E801K	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	2450	-			801					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2401G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802629	0.31869	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25414	1.8;1.81;1.81	3.88	1.99	0.26369	.	0.530227	0.17008	N	0.190622	T	0.14013	0.0339	L	0.32530	0.975	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.35724	-0.9777	10	0.07644	T	0.81	.	4.9314	0.13919	0.0:0.6198:0.1769:0.2033	.	801;801	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	K	801;751;801	ENSP00000406661:E801K;ENSP00000242365:E751K;ENSP00000416040:E801K	ENSP00000242365:E751K	E	-	1	0	KIAA1549	138252511	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.407000	0.07178	0.297000	0.22615	0.561000	0.74099	GAG		0.512	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			5	21	0	0	0	0	5	21				
CSMD1	64478	broad.mit.edu	37	8	3076900	3076900	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr8:3076900G>A	ENST00000520002.1	-	30	5107	c.4552C>T	c.(4552-4554)Ctc>Ttc	p.L1518F	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000602557.1_Missense_Mutation_p.L1518F|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1518F|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1518F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1518	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCCAATGAGGGGGCTGTTG	0.478																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(4552-4554)CTC>TTC		CUB and Sushi multiple domains 1 precursor							38.0	41.0	40.0					8																	3076900		1835	4082	5917	SO:0001583	missense	64478					integral to membrane		g.chr8:3076900G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4552C>T	8.37:g.3076900G>A	ENSP00000430733:p.Leu1518Phe					CSMD1_uc011kwj.1_Missense_Mutation_p.L910F|CSMD1_uc003wqe.2_Missense_Mutation_p.L674F	p.L1518F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	29	4942	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1518			Extracellular (Potential).|CUB 9.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4552C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.36|13.36	2.212534|2.212534	0.39102|0.39102	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|T	0.34072|0.32272	1.38;1.38;1.38;1.38;1.38|1.46	5.48|5.48	4.59|4.59	0.56863|0.56863	CUB (5);|.	0.000000|.	0.56097|.	D|.	0.000023|.	T|T	0.42494|0.42494	0.1205|0.1205	M|M	0.63428|0.63428	1.95|1.95	0.50813|0.50813	D|D	0.999895|0.999895	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;1.0;1.0|.	T|T	0.09530|0.09530	-1.0670|-1.0670	10|7	0.59425|0.37606	D|T	0.04|0.19	.|.	11.4705|11.4705	0.50266|0.50266	0.1421:0.0:0.8579:0.0|0.1421:0.0:0.8579:0.0	.|.	1518;1518;1518|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	F|L	1518;1518;1380;1517;1517;1517|997	ENSP00000383047:L1518F;ENSP00000430733:L1518F;ENSP00000441462:L1517F;ENSP00000446243:L1517F;ENSP00000441675:L1517F|ENSP00000334828:P997L	ENSP00000320445:L1380F|ENSP00000334828:P997L	L|P	-|-	1|2	0|0	CSMD1|CSMD1	3064307|3064307	1.000000|1.000000	0.71417|0.71417	0.080000|0.080000	0.20451|0.20451	0.101000|0.101000	0.19017|0.19017	3.226000|3.226000	0.51254|0.51254	2.724000|2.724000	0.93272|0.93272	0.555000|0.555000	0.69702|0.69702	CTC|CCT		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	3	0	0	0	0	3	3				
ARC	23237	broad.mit.edu	37	8	143695621	143695621	+	Silent	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr8:143695621G>A	ENST00000356613.2	-	1	1212	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGGTCCGGTGGTCCAGCTCCA	0.746																																						uc003ywn.1		NA																	0				breast(1)	1						c.(10-12)GAC>GAT		activity-regulated cytoskeleton-associated							4.0	5.0	5.0					8																	143695621		1753	3537	5290	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143695621G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.12C>T	8.37:g.143695621G>A							p.D4D	NM_015193	NP_056008	Q7LC44	ARC_HUMAN			1	213	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	4					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.12C>T	CCDS34950.1																																																																																				0.746	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			4	10	0	0	0	0	4	10				
NRBP2	340371	broad.mit.edu	37	8	144919254	144919254	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr8:144919254G>A	ENST00000442628.2	-	14	1359	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	NRBP2_ENST00000327830.5_Missense_Mutation_p.A164V	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGGGTCTTGGCCTTTTGGAC	0.607																																						uc011lkt.1		NA																	0				central_nervous_system(2)	2						c.(1219-1221)GCC>GTC		nuclear receptor binding protein 2							48.0	54.0	52.0					8																	144919254		2203	4300	6503	SO:0001583	missense	340371				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	g.chr8:144919254G>A	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.1220C>T	8.37:g.144919254G>A	ENSP00000414055:p.Ala407Val					NRBP2_uc003yzv.2_Missense_Mutation_p.A164V|NRBP2_uc003yzz.1_Missense_Mutation_p.A25V|NRBP2_uc003yzw.2_Missense_Mutation_p.A199V|NRBP2_uc010mfl.2_Missense_Mutation_p.A199V|NRBP2_uc010mfm.2_Missense_Mutation_p.A164V|NRBP2_uc011lks.1_Missense_Mutation_p.A164V|NRBP2_uc003yzy.2_Missense_Mutation_p.A164V	p.A407V	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		14	1360	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		407						Missense_Mutation	SNP	ENST00000442628.2	37	c.1220C>T	CCDS34959.2	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797749	0.31777	.	.	ENSG00000185189	ENST00000442628;ENST00000327830	T;T	0.21361	2.01;2.01	4.32	3.43	0.39272	.	0.334913	0.27821	U	0.017707	T	0.04907	0.0132	N	0.01649	-0.78	0.27229	N	0.959462	B;B;B;B	0.33637	0.007;0.42;0.029;0.005	B;B;B;B	0.25506	0.004;0.061;0.012;0.009	T	0.36986	-0.9725	10	0.02654	T	1	-12.0882	8.1283	0.31012	0.1911:0.0:0.8089:0.0	.	407;199;199;164	Q9NSY0;Q9NSY0-4;Q9NSY0-2;D3DWK9	NRBP2_HUMAN;.;.;.	V	407;164	ENSP00000414055:A407V;ENSP00000330271:A164V	ENSP00000330271:A164V	A	-	2	0	NRBP2	144991242	0.440000	0.25618	1.000000	0.80357	0.988000	0.76386	2.079000	0.41577	1.019000	0.39547	0.585000	0.79938	GCC		0.607	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	NM_178564		42	103	0	0	0	0	42	103				
PLEC	5339	broad.mit.edu	37	8	144998170	144998170	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr8:144998170G>A	ENST00000322810.4	-	31	6507	c.6338C>T	c.(6337-6339)gCg>gTg	p.A2113V	PLEC_ENST00000527096.1_Missense_Mutation_p.A1999V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2003V|PLEC_ENST00000345136.3_Missense_Mutation_p.A1976V|PLEC_ENST00000357649.2_Missense_Mutation_p.A1980V|PLEC_ENST00000354589.3_Missense_Mutation_p.A1976V|PLEC_ENST00000354958.2_Missense_Mutation_p.A1954V|PLEC_ENST00000356346.3_Missense_Mutation_p.A1962V|PLEC_ENST00000398774.2_Missense_Mutation_p.A1944V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCTCCGCCGCCAGCTGCCG	0.741																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6337-6339)GCG>GTG		plectin isoform 1							5.0	7.0	6.0					8																	144998170		1987	3974	5961	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998170G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6338C>T	8.37:g.144998170G>A	ENSP00000323856:p.Ala2113Val					PLEC_uc003zab.1_Missense_Mutation_p.A1976V|PLEC_uc003zac.1_Missense_Mutation_p.A1980V|PLEC_uc003zad.2_Missense_Mutation_p.A1976V|PLEC_uc003zae.1_Missense_Mutation_p.A1944V|PLEC_uc003zag.1_Missense_Mutation_p.A1954V|PLEC_uc003zah.2_Missense_Mutation_p.A1962V|PLEC_uc003zaj.2_Missense_Mutation_p.A2003V	p.A2113V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6508	-			2113			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6338C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527010	0.27299	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;T;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-1.01;-2.46;-2.46;-2.46	4.45	4.45	0.53987	.	0.000000	0.64402	U	0.000008	D	0.89705	0.6792	N	0.21373	0.66	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.87567	0.2475	10	0.22109	T	0.4	.	16.8673	0.86033	0.0:0.0:1.0:0.0	.	2003;1962;1954;2113;1944;1976;1980;1976	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	1976;1980;1976;1944;2113;1954;1962;2003;1999	ENSP00000344848:A1976V;ENSP00000350277:A1980V;ENSP00000346602:A1976V;ENSP00000381756:A1944V;ENSP00000323856:A2113V;ENSP00000347044:A1954V;ENSP00000348702:A1962V;ENSP00000388180:A2003V;ENSP00000434583:A1999V	ENSP00000323856:A2113V	A	-	2	0	PLEC	145070158	1.000000	0.71417	0.930000	0.37139	0.097000	0.18754	3.187000	0.50950	2.302000	0.77476	0.448000	0.29417	GCG		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	7	0	0	0	0	8	7				
LRSAM1	90678	broad.mit.edu	37	9	130259572	130259572	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr9:130259572G>A	ENST00000323301.4	+	23	2475	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	LRSAM1_ENST00000373322.1_Missense_Mutation_p.R624Q|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R597Q|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R624Q|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	624	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GAGATCCTCCGGAGAGTCCAG	0.617																																						uc004brb.1		NA																	0					0						c.(1870-1872)CGG>CAG		leucine rich repeat and sterile alpha motif							69.0	63.0	65.0					9																	130259572		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130259572G>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1871G>A	9.37:g.130259572G>A	ENSP00000322937:p.Arg624Gln					LRSAM1_uc010mxk.1_Missense_Mutation_p.R597Q|LRSAM1_uc004brc.1_Missense_Mutation_p.R624Q|LRSAM1_uc004brd.1_Missense_Mutation_p.R624Q|LRSAM1_uc004bre.1_Missense_Mutation_p.R204Q|uc004brf.1_5'Flank|LRSAM1_uc004brg.1_Missense_Mutation_p.R55Q	p.R624Q	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			24	2216	+			624			SAM.		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.1871G>A	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639176	0.29157	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.89	3.04	0.35103	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.257952	0.39341	N	0.001396	T	0.77864	0.4194	M	0.65975	2.015	0.34976	D	0.753654	B;B	0.23377	0.068;0.084	B;B	0.15052	0.008;0.012	T	0.75445	-0.3315	10	0.49607	T	0.09	-14.5294	6.9892	0.24745	0.2843:0.0:0.7157:0.0	.	597;624	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	Q	624;597;624;624	ENSP00000300417:R624Q;ENSP00000362421:R597Q;ENSP00000322937:R624Q;ENSP00000362419:R624Q	ENSP00000300417:R624Q	R	+	2	0	LRSAM1	129299393	0.014000	0.17966	0.493000	0.27502	0.415000	0.31203	1.603000	0.36794	0.468000	0.27243	0.561000	0.74099	CGG		0.617	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		7	26	0	0	0	0	7	26				
FIBCD1	84929	broad.mit.edu	37	9	133805083	133805083	+	Silent	SNP	G	G	A			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr9:133805083G>A	ENST00000372338.4	-	2	665	c.423C>T	c.(421-423)gcC>gcT	p.A141A	FIBCD1_ENST00000253018.4_5'UTR|FIBCD1_ENST00000448616.1_Silent_p.A141A|FIBCD1_ENST00000372337.2_5'UTR	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	141						integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCAGCTGGTCGGCCAGCGTGT	0.731																																						uc004bzz.2		NA																	0					0						c.(421-423)GCC>GCT		fibrinogen C domain containing 1							8.0	9.0	8.0					9																	133805083		2085	4101	6186	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133805083G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.423C>T	9.37:g.133805083G>A						FIBCD1_uc011mcc.1_Silent_p.A141A|FIBCD1_uc011mcd.1_Silent_p.A149A	p.A141A	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	2	668	-	all_hematologic(7;0.0028)		141			Extracellular (Potential).		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.423C>T	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162177	0.21538	.	.	ENSG00000130720	ENST00000444139	.	.	.	5.04	-4.33	0.03677	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.49688	-0.8913	4	.	.	.	.	8.2143	0.31503	0.3562:0.3546:0.2893:0.0	.	.	.	.	L	95	.	.	P	-	2	0	FIBCD1	132794904	0.000000	0.05858	0.885000	0.34714	0.955000	0.61496	-4.589000	0.00211	-0.763000	0.04658	0.462000	0.41574	CCG		0.731	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		5	9	0	0	0	0	5	9				
