#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AGK	55750	hgsc.bcm.edu;ucsc.edu	37	7	141255279	141255279	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr7:141255279T>C	ENST00000355413.4	+	2	273	c.13T>C	c.(13-15)Ttt>Ctt	p.F5L	AGK_ENST00000535825.1_Missense_Mutation_p.F5L|AGK_ENST00000495028.1_3'UTR|AGK_ENST00000473247.1_5'UTR|AGK_ENST00000492693.1_Missense_Mutation_p.F5L	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	5					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GACGGTGTTCTTTAAAACGCT	0.423																																																	0													76.0	75.0	76.0					7																	141255279		2203	4300	6503	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.13T>C	7.37:g.141255279T>C	ENSP00000347581:p.Phe5Leu		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225712	0.58668	.	.	ENSG00000006530	ENST00000355413;ENST00000424238;ENST00000535825;ENST00000492693	T;T;T	0.69806	1.31;1.06;-0.43	5.3	3.03	0.35002	.	0.047594	0.85682	D	0.000000	T	0.60612	0.2282	M	0.69823	2.125	0.40818	D	0.983481	B	0.06786	0.001	B	0.09377	0.004	T	0.56571	-0.7957	10	0.32370	T	0.25	.	7.9702	0.30124	0.0:0.0862:0.1689:0.7448	.	5	Q53H12	AGK_HUMAN	L	5	ENSP00000347581:F5L;ENSP00000444349:F5L;ENSP00000418789:F5L	ENSP00000347581:F5L	F	+	1	0	AGK	140901748	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.372000	0.34261	0.865000	0.35603	0.528000	0.53228	TTT		0.423	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1		NM_018238	
AGK	55750	hgsc.bcm.edu;ucsc.edu	37	7	141255283	141255283	+	Missense_Mutation	SNP	A	A	T	rs148294392	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr7:141255283A>T	ENST00000355413.4	+	2	277	c.17A>T	c.(16-18)aAa>aTa	p.K6I	AGK_ENST00000535825.1_Missense_Mutation_p.K6I|AGK_ENST00000495028.1_3'UTR|AGK_ENST00000473247.1_5'UTR|AGK_ENST00000492693.1_Missense_Mutation_p.K6I	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	6					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GTGTTCTTTAAAACGCTTCGA	0.428																																																	0													78.0	77.0	77.0					7																	141255283		2203	4300	6503	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.17A>T	7.37:g.141255283A>T	ENSP00000347581:p.Lys6Ile		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795615	0.50208	.	.	ENSG00000006530	ENST00000355413;ENST00000424238;ENST00000535825;ENST00000492693	T;T;T	0.71341	0.84;0.63;-0.56	5.3	2.92	0.33932	.	0.309905	0.34828	N	0.003644	T	0.66025	0.2748	L	0.61218	1.895	0.43647	D	0.996051	P	0.48834	0.916	P	0.44732	0.459	T	0.64054	-0.6497	10	0.45353	T	0.12	.	6.9542	0.24562	0.7681:0.152:0.0799:0.0	.	6	Q53H12	AGK_HUMAN	I	6	ENSP00000347581:K6I;ENSP00000444349:K6I;ENSP00000418789:K6I	ENSP00000347581:K6I	K	+	2	0	AGK	140901752	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.116000	0.41930	0.828000	0.34709	0.528000	0.53228	AAA		0.428	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1		NM_018238	
ARAP1	116985	hgsc.bcm.edu	37	11	72418405	72418405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:72418405G>T	ENST00000393609.3	-	12	1740	c.1538C>A	c.(1537-1539)tCa>tAa	p.S513*	ARAP1_ENST00000359373.5_Nonsense_Mutation_p.S513*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.S273*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.S268*|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.S513*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.S268*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.S268*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	513	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTCTAGCTCTGAGTCAGCAGA	0.617																																					Ovarian(102;1198 1520 13195 17913 37529)												0													38.0	35.0	36.0					11																	72418405		2200	4293	6493	SO:0001587	stop_gained	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1538C>A	11.37:g.72418405G>T	ENSP00000377233:p.Ser513*		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	44	10.688969	0.99450	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	.	.	.	4.49	4.49	0.54785	.	0.175858	0.39407	N	0.001362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8852	0.52598	0.0:0.1765:0.8235:0.0	.	.	.	.	X	513;513;273;268;513;268;268;302	.	ENSP00000335506:S268X	S	-	2	0	ARAP1	72096053	0.997000	0.39634	0.819000	0.32651	0.944000	0.59088	6.059000	0.71133	2.338000	0.79540	0.655000	0.94253	TCA		0.617	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118	
APOC3	345	hgsc.bcm.edu	37	11	116703546	116703546	+	Silent	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:116703546T>C	ENST00000227667.3	+	4	308	c.246T>C	c.(244-246)tcT>tcC	p.S82S	APOC3_ENST00000375345.1_Silent_p.S100S	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	82	Lipid-binding.				cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACAAGTTCTCTGAGTTCTGGG	0.557																																					GBM(81;259 1650 7161 35190)												0													119.0	110.0	113.0					11																	116703546		2201	4296	6497	SO:0001819	synonymous_variant	345			X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.246T>C	11.37:g.116703546T>C			Q08E83|Q6Q786	Silent	SNP	ENST00000227667.3	37	CCDS8377.1																																																																																				0.557	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2		NM_000040	
BNC1	646	hgsc.bcm.edu;ucsc.edu	37	15	83926300	83926300	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr15:83926300A>T	ENST00000345382.2	-	5	2964	c.2879T>A	c.(2878-2880)gTa>gAa	p.V960E	BNC1_ENST00000569704.1_Missense_Mutation_p.V953E|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	960					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCAGCCTGGTACTTTGCATTT	0.507																																																	0													143.0	140.0	141.0					15																	83926300		2203	4300	6503	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2879T>A	15.37:g.83926300A>T	ENSP00000307041:p.Val960Glu		Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811446	0.90707	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.57436	0.4	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.063358	0.64402	D	0.000008	T	0.69351	0.3101	L	0.57536	1.79	0.58432	D	0.99999	D;D	0.76494	0.999;0.995	D;P	0.71184	0.972;0.821	T	0.71978	-0.4429	10	0.87932	D	0	-23.8929	16.379	0.83439	1.0:0.0:0.0:0.0	.	953;960	F5GY04;Q01954	.;BNC1_HUMAN	E	960;953	ENSP00000307041:V960E	ENSP00000307041:V960E	V	-	2	0	BNC1	81717304	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.262000	0.95591	2.268000	0.75426	0.455000	0.32223	GTA		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1		NM_001717	
C18orf21	83608	hgsc.bcm.edu;ucsc.edu	37	18	33557476	33557476	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr18:33557476T>G	ENST00000592875.1	+	4	1050	c.404T>G	c.(403-405)cTc>cGc	p.L135R	C18orf21_ENST00000333234.5_Missense_Mutation_p.L47R	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	135										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						ACAAGTAAACTCAGCCTGAAG	0.433																																																	0													112.0	100.0	104.0					18																	33557476		2203	4300	6503	SO:0001583	missense	83608			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.404T>G	18.37:g.33557476T>G	ENSP00000465517:p.Leu135Arg		Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	T	8.935	0.964440	0.18583	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.44083	0.93	5.52	2.15	0.27550	.	0.722042	0.14076	N	0.343061	T	0.33847	0.0877	M	0.66939	2.045	0.09310	N	1	P	0.41265	0.744	B	0.40825	0.341	T	0.18871	-1.0323	10	0.08837	T	0.75	-5.5101	3.2658	0.06864	0.0:0.4196:0.252:0.3284	.	135	Q32NC0	CR021_HUMAN	R	135;47	ENSP00000269194:L47R	ENSP00000269194:L47R	L	+	2	0	C18orf21	31811474	0.002000	0.14202	0.056000	0.19401	0.095000	0.18619	1.241000	0.32743	0.149000	0.19098	0.455000	0.32223	CTC		0.433	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1		NM_031446	
MMS22L	253714	hgsc.bcm.edu	37	6	97629924	97629924	+	Missense_Mutation	SNP	G	G	C	rs189009132	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr6:97629924G>C	ENST00000275053.4	-	16	2505	c.2240C>G	c.(2239-2241)aCt>aGt	p.T747S	MMS22L_ENST00000369251.2_Missense_Mutation_p.T707S	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	747					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCTAGCAAAGTAAAGTCTAG	0.373													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16902	0.0		0.0	False		,,,				2504	0.0																0													131.0	132.0	131.0					6																	97629924		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2240C>G	6.37:g.97629924G>C	ENSP00000275053:p.Thr747Ser		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	21.5	4.164446	0.78339	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.38560	1.47;1.13	5.04	5.04	0.67666	.	0.064390	0.64402	D	0.000009	T	0.43255	0.1239	L	0.50333	1.59	0.44098	D	0.996863	D;D	0.57571	0.98;0.98	P;P	0.52514	0.701;0.701	T	0.41034	-0.9531	10	0.59425	D	0.04	-0.1984	18.7344	0.91749	0.0:0.0:1.0:0.0	.	707;747	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	S	747;707	ENSP00000275053:T747S;ENSP00000358254:T707S	ENSP00000275053:T747S	T	-	2	0	MMS22L	97736645	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.438000	0.80431	2.510000	0.84645	0.467000	0.42956	ACT		0.373	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3		NM_198468	
C9orf116	138162	hgsc.bcm.edu;ucsc.edu	37	9	138387377	138387377	+	Silent	SNP	G	G	A	rs140869229		TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr9:138387377G>A	ENST00000429260.2	-	3	327	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C9orf116_ENST00000371791.1_Silent_p.T87T|C9orf116_ENST00000371789.3_Silent_p.T87T	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	103															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		CTTTTCTCCAGGTAAACATTG	0.448																																																	0													183.0	150.0	161.0					9																	138387377		2203	4300	6503	SO:0001819	synonymous_variant	138162			BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"""p53-induced expression 1 in Rb&#8722;/&#8722; cells"""	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.307C>T	9.37:g.138387377G>A			Q5T897|Q8WU44	Silent	SNP	ENST00000429260.2	37	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.099431	0.01843	.	.	ENSG00000160345	ENST00000419770	.	.	.	5.03	-2.76	0.05896	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	T	0.27054	-1.0085	4	.	.	.	-5.3576	2.4481	0.04511	0.2297:0.0773:0.3811:0.3118	.	.	.	.	L	65	.	.	P	-	2	0	C9orf116	137527198	0.117000	0.22190	0.182000	0.23118	0.020000	0.10135	-0.197000	0.09518	-0.347000	0.08299	-0.276000	0.10085	CCT		0.448	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2		NM_144654	
CASZ1	54897	hgsc.bcm.edu	37	1	10725193	10725193	+	Missense_Mutation	SNP	G	G	A	rs116460699	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:10725193G>A	ENST00000377022.3	-	5	769	c.452C>T	c.(451-453)tCg>tTg	p.S151L	CASZ1_ENST00000344008.5_Missense_Mutation_p.S151L|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	151					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGCCCCGTCCGAATCCTTCTC	0.682													G|||	52	0.0103834	0.0008	0.0231	5008	,	,		14431	0.0		0.0318	False		,,,				2504	0.0031																0								G	LEU/SER,LEU/SER	28,4378	34.3+/-65.2	0,28,2175	43.0	37.0	39.0		452,452	4.4	0.2	1	dbSNP_132	39	296,8304	106.0+/-166.9	11,274,4015	yes	missense,missense	CASZ1	NM_001079843.1,NM_017766.3	145,145	11,302,6190	AA,AG,GG		3.4419,0.6355,2.4912	benign,benign	151/1760,151/1167	10725193	324,12682	2203	4300	6503	SO:0001583	missense	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.452C>T	1.37:g.10725193G>A	ENSP00000366221:p.Ser151Leu		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	CCDS41246.1	29	0.013278388278388278	2	0.0040650406504065045	6	0.016574585635359115	0	0.0	21	0.027704485488126648	G	10.48	1.362389	0.24684	0.006355	0.034419	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.509796	0.18339	N	0.144232	T	0.11281	0.0275	N	0.12746	0.255	0.31220	N	0.697641	B;B;B	0.13594	0.007;0.002;0.008	B;B;B	0.11329	0.006;0.002;0.004	T	0.09143	-1.0688	9	0.39692	T	0.17	-3.1351	11.0321	0.47779	0.0866:0.0:0.9134:0.0	.	175;151;151	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	L	151	.	ENSP00000339445:S151L	S	-	2	0	CASZ1	10647780	0.996000	0.38824	0.217000	0.23759	0.071000	0.16799	5.073000	0.64395	2.191000	0.70037	0.511000	0.50034	TCG		0.682	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766	
CCDC97	90324	hgsc.bcm.edu	37	19	41822486	41822486	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:41822486C>A	ENST00000269967.3	+	2	366	c.244C>A	c.(244-246)Cag>Aag	p.Q82K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	82										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CAGCCAGCAGCAGGGTGAACC	0.617																																																	0													61.0	55.0	57.0					19																	41822486		2203	4300	6503	SO:0001583	missense	90324			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.244C>A	19.37:g.41822486C>A	ENSP00000269967:p.Gln82Lys		Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206352	0.01568	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.66	3.58	0.41010	.	0.409334	0.23062	N	0.052366	T	0.13543	0.0328	N	0.04063	-0.285	0.28770	N	0.900417	B	0.02656	0.0	B	0.04013	0.001	T	0.21965	-1.0230	9	0.02654	T	1	-3.0749	9.3167	0.37939	0.4391:0.5609:0.0:0.0	.	82	Q96F63	CCD97_HUMAN	K	82	.	ENSP00000269967:Q82K	Q	+	1	0	CCDC97	46514326	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	2.236000	0.43052	2.145000	0.66743	0.557000	0.71058	CAG		0.617	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1		NM_052848	
CCDC114	93233	hgsc.bcm.edu	37	19	48821663	48821663	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:48821663G>C	ENST00000315396.7	-	3	912	c.230C>G	c.(229-231)aCc>aGc	p.T77S	CCDC114_ENST00000497803.1_5'Flank	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	77					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		cagggccctggtctgctcctg	0.617																																																	0													46.0	48.0	47.0					19																	48821663		692	1591	2283	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.230C>G	19.37:g.48821663G>C	ENSP00000318429:p.Thr77Ser		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	G	1.458	-0.563293	0.03939	.	.	ENSG00000105479	ENST00000315396	T	0.22134	1.97	4.56	-6.42	0.01932	.	.	.	.	.	T	0.07234	0.0183	N	0.19112	0.55	0.09310	N	1	B;B	0.21606	0.058;0.021	B;B	0.18871	0.023;0.013	T	0.40496	-0.9560	9	0.06625	T	0.88	-0.8531	1.0	0.01475	0.4312:0.1223:0.1851:0.2615	.	77;77	Q96M63;Q96M63-5	CC114_HUMAN;.	S	77	ENSP00000318429:T77S	ENSP00000318429:T77S	T	-	2	0	CCDC114	53513475	0.001000	0.12720	0.005000	0.12908	0.612000	0.37316	-0.939000	0.03933	-0.928000	0.03761	-0.225000	0.12378	ACC		0.617	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1		NM_144577	
CCNB3	85417	hgsc.bcm.edu;ucsc.edu	37	X	50090767	50090767	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:50090767G>A	ENST00000376042.1	+	11	4251	c.3953G>A	c.(3952-3954)gGa>gAa	p.G1318E	CCNB3_ENST00000376038.1_Missense_Mutation_p.G214E|CCNB3_ENST00000348603.2_Missense_Mutation_p.G214E|CCNB3_ENST00000276014.7_Missense_Mutation_p.G1318E			Q8WWL7	CCNB3_HUMAN	cyclin B3	1318					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGAAGCTCGGATACTGGGTA	0.498																																																	0													61.0	47.0	52.0					X																	50090767		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3953G>A	X.37:g.50090767G>A	ENSP00000365210:p.Gly1318Glu		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488159	0.44249	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.96	0.544	0.17185	Cyclin, C-terminal (1);Cyclin-like (3);	1.362850	0.05259	N	0.515322	T	0.31071	0.0785	L	0.50993	1.605	0.09310	N	1	P;D;P	0.57899	0.8;0.981;0.872	P;P;P	0.55303	0.561;0.773;0.636	T	0.15983	-1.0418	9	.	.	.	.	5.7635	0.18213	0.289:0.1322:0.5788:0.0	.	1318;214;1318	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	E	1318;214;214;1318	ENSP00000365210:G1318E;ENSP00000365206:G214E;ENSP00000338682:G214E;ENSP00000276014:G1318E	.	G	+	2	0	CCNB3	50107507	0.404000	0.25328	0.000000	0.03702	0.001000	0.01503	1.783000	0.38664	-0.278000	0.09180	-0.368000	0.07277	GGA		0.498	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			
CLCN6	1185	hgsc.bcm.edu;ucsc.edu	37	1	11894064	11894064	+	Silent	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:11894064T>C	ENST00000346436.6	+	15	1555	c.1503T>C	c.(1501-1503)cgT>cgC	p.R501R	CLCN6_ENST00000376496.3_Silent_p.R501R|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.R479R	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	501					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTTGGACGTTTAGTTGCCA	0.483																																																	0													148.0	130.0	136.0					1																	11894064		2203	4300	6503	SO:0001819	synonymous_variant	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1503T>C	1.37:g.11894064T>C			A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	CCDS138.1																																																																																				0.483	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2		NM_001286	
CNOT3	4849	hgsc.bcm.edu;ucsc.edu	37	19	54656179	54656179	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:54656179A>T	ENST00000406403.1	+	14	3323	c.1720A>T	c.(1720-1722)Agt>Tgt	p.S574C	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.S574C|CNOT3_ENST00000358389.3_Missense_Mutation_p.S393C			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	574	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATCCTGAGCAGTACATCAGC	0.672																																																	0													109.0	121.0	117.0					19																	54656179		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1720A>T	19.37:g.54656179A>T	ENSP00000383954:p.Ser574Cys		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.26|16.26	3.072043|3.072043	0.55646|0.55646	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000457463|ENST00000221232;ENST00000358389;ENST00000406403	.|T;T	.|0.49432	.|0.78;0.78	4.32|4.32	3.3|3.3	0.37823|0.37823	.|.	.|0.601201	.|0.16414	.|N	.|0.215475	T|T	0.45677|0.45677	0.1354|0.1354	L|L	0.51422|0.51422	1.61|1.61	0.20638|0.20638	N|N	0.999877|0.999877	.|B;P;B;B	.|0.50272	.|0.001;0.933;0.0;0.003	.|B;P;B;B	.|0.46339	.|0.001;0.513;0.0;0.002	T|T	0.32322|0.32322	-0.9911|-0.9911	5|10	.|0.62326	.|D	.|0.03	-12.5158|-12.5158	9.0286|9.0286	0.36245|0.36245	0.9087:0.0:0.0913:0.0|0.9087:0.0:0.0913:0.0	.|.	.|574;393;574;498	.|B7Z6J7;O75175-3;O75175;Q6ZMJ6	.|.;.;CNOT3_HUMAN;.	L|C	105|574;393;574	.|ENSP00000221232:S574C;ENSP00000383954:S574C	.|ENSP00000221232:S574C	Q|S	+|+	2|1	0|0	CNOT3|CNOT3	59347991|59347991	0.661000|0.661000	0.27430|0.27430	0.805000|0.805000	0.32314|0.32314	0.803000|0.803000	0.45373|0.45373	1.650000|1.650000	0.37292|0.37292	0.634000|0.634000	0.30469|0.30469	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.672	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3		NM_014516	
COX15	1355	hgsc.bcm.edu;ucsc.edu	37	10	101478155	101478155	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr10:101478155A>C	ENST00000016171.5	-	7	985	c.935T>G	c.(934-936)cTg>cGg	p.L312R	COX15_ENST00000370483.5_Missense_Mutation_p.L312R|CUTC_ENST00000493385.1_Intron|COX15_ENST00000497381.1_5'Flank			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	312					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AACATTCCTCAGGATGGGGGA	0.498																																																	0													90.0	91.0	91.0					10																	101478155		2203	4300	6503	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.935T>G	10.37:g.101478155A>C	ENSP00000016171:p.Leu312Arg		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896661	0.72639	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83506	-1.73;-1.73	5.23	5.23	0.72850	.	0.130345	0.52532	D	0.000064	D	0.85860	0.5795	M	0.73962	2.25	0.51767	D	0.999938	P;P	0.40000	0.698;0.619	P;P	0.45343	0.465;0.477	D	0.86604	0.1868	10	0.49607	T	0.09	-4.2554	15.1416	0.72615	1.0:0.0:0.0:0.0	.	312;312	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	R	312	ENSP00000359514:L312R;ENSP00000016171:L312R	ENSP00000016171:L312R	L	-	2	0	COX15	101468145	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	8.962000	0.93254	1.978000	0.57642	0.456000	0.33151	CTG		0.498	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1		NP_510870	
CRB1	23418	hgsc.bcm.edu;ucsc.edu	37	1	197390461	197390461	+	Silent	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:197390461G>C	ENST00000367400.3	+	6	1638	c.1503G>C	c.(1501-1503)gtG>gtC	p.V501V	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Silent_p.V501V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.V200V|CRB1_ENST00000367399.2_Silent_p.V389V|CRB1_ENST00000535699.1_Silent_p.V432V|CRB1_ENST00000544212.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	501	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGGCTCAGTGACAACCAAGG	0.507																																																	0													106.0	99.0	101.0					1																	197390461		2203	4300	6503	SO:0001819	synonymous_variant	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1503G>C	1.37:g.197390461G>C			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.507	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253	
CSMD1	64478	hgsc.bcm.edu;ucsc.edu	37	8	3046472	3046472	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr8:3046472C>A	ENST00000520002.1	-	36	6018	c.5463G>T	c.(5461-5463)gaG>gaT	p.E1821D	CSMD1_ENST00000602557.1_Missense_Mutation_p.E1821D|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1820D|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1821D|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1821D|CSMD1_ENST00000539096.1_Missense_Mutation_p.E1820D|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1820D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1821	CUB 11. {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)		TTCCGTATGGCTCAGGGTAGC	0.468																																																	0													71.0	67.0	68.0					8																	3046472		1893	4113	6006	SO:0001583	missense	64478					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.5463G>T	8.37:g.3046472C>A	ENSP00000430733:p.Glu1821Asp		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.058149|3.058149	0.55325|0.55325	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.18338	.|2.22;2.22;2.22;2.22;2.22	5.53|5.53	-2.16|-2.16	0.07080|0.07080	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.19525|0.19525	0.0469|0.0469	N|N	0.13168|0.13168	0.305|0.305	0.48341|0.48341	D|D	0.999635|0.999635	.|D;B;B	.|0.69078	.|0.997;0.048;0.077	.|D;B;B	.|0.80764	.|0.994;0.317;0.109	T|T	0.00605|0.00605	-1.1648|-1.1648	5|10	.|0.44086	.|T	.|0.13	.|.	11.9229|11.9229	0.52801|0.52801	0.0:0.4496:0.0:0.5504|0.0:0.4496:0.0:0.5504	.|.	.|1821;1821;1821	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	S|D	1301|1821;1821;1683;1820;1820;1820	.|ENSP00000383047:E1821D;ENSP00000430733:E1821D;ENSP00000441462:E1820D;ENSP00000446243:E1820D;ENSP00000441675:E1820D	.|ENSP00000320445:E1683D	A|E	-|-	1|3	0|2	CSMD1|CSMD1	3033879|3033879	0.998000|0.998000	0.40836|0.40836	0.625000|0.625000	0.29200|0.29200	0.773000|0.773000	0.43773|0.43773	0.496000|0.496000	0.22499|0.22499	-0.278000|-0.278000	0.09180|0.09180	0.637000|0.637000	0.83480|0.83480	GCC|GAG		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225	
DAGLA	747	hgsc.bcm.edu	37	11	61505673	61505673	+	Silent	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:61505673G>A	ENST00000257215.5	+	16	1766	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	550					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAAGCACCAAGCCCAAAGTGA	0.637																																																	0													49.0	48.0	48.0					11																	61505673		2202	4299	6501	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1650G>A	11.37:g.61505673G>A			A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																				0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1		NM_006133	
DUSP9	1852	hgsc.bcm.edu;ucsc.edu	37	X	152915555	152915555	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:152915555A>G	ENST00000342782.3	+	4	1215	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	DUSP9_ENST00000370167.4_Missense_Mutation_p.Y317C			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	317	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACGATGCCTATGACCTGGTC	0.587																																																	0													298.0	257.0	271.0					X																	152915555		2203	4300	6503	SO:0001583	missense	1852			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.950A>G	X.37:g.152915555A>G	ENSP00000345853:p.Tyr317Cys		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	20.3|20.3	3.965625|3.965625	0.74131|0.74131	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000433144|ENST00000370167;ENST00000342782	.|D;D	.|0.87103	.|-2.21;-2.21	4.83|4.83	3.63|3.63	0.41609|0.41609	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|0.000000	.|0.56097	.|D	.|0.000027	D|D	0.92218|0.92218	0.7532|0.7532	M|M	0.90595|0.90595	3.13|3.13	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.56035	.|0.974	.|P	.|0.56788	.|0.806	D|D	0.91584|0.91584	0.5281|0.5281	5|10	.|0.72032	.|D	.|0.01	.|.	9.1555|9.1555	0.36990|0.36990	0.8344:0.0:0.0:0.1656|0.8344:0.0:0.0:0.1656	.|.	.|317	.|Q99956	.|DUS9_HUMAN	V|C	288|317	.|ENSP00000359186:Y317C;ENSP00000345853:Y317C	.|ENSP00000345853:Y317C	M|Y	+|+	1|2	0|0	DUSP9|DUSP9	152568749|152568749	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.986000|0.986000	0.74619|0.74619	7.170000|7.170000	0.77587|0.77587	0.658000|0.658000	0.30925|0.30925	0.430000|0.430000	0.28490|0.28490	ATG|TAT		0.587	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3		NM_001395	
EDAR	10913	hgsc.bcm.edu;ucsc.edu	37	2	109513432	109513432	+	Silent	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:109513432G>T	ENST00000258443.2	-	12	1708	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	EDAR_ENST00000376651.1_Silent_p.S458S|EDAR_ENST00000409271.1_Silent_p.S458S	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	426	Death.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGCACACAAGGACTCCACAG	0.587																																																	0													85.0	65.0	72.0					2																	109513432		2203	4300	6503	SO:0001819	synonymous_variant	10913			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1278C>A	2.37:g.109513432G>T			B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	CCDS2081.1																																																																																				0.587	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			
FGF6	2251	hgsc.bcm.edu	37	12	4553398	4553398	+	Silent	SNP	C	C	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr12:4553398C>G	ENST00000228837.2	-	2	394	c.351G>C	c.(349-351)ctG>ctC	p.L117L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	117					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AAATTTCCAGCAGGCCTGACA	0.532																																																	0													60.0	53.0	55.0					12																	4553398		2203	4300	6503	SO:0001819	synonymous_variant	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.351G>C	12.37:g.4553398C>G			Q0VAE1	Silent	SNP	ENST00000228837.2	37	CCDS8527.1																																																																																				0.532	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1		NM_020996	
FMN2	56776	hgsc.bcm.edu	37	1	240370934	240370934	+	Missense_Mutation	SNP	G	G	C	rs71170718|rs4997328|rs562038978	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:240370934G>C	ENST00000319653.9	+	5	3052	c.2822G>C	c.(2821-2823)gGa>gCa	p.G941A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	941	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCGGAGCGGGAATACCTCCT	0.706													G|||	1385	0.276558	0.3616	0.1902	5008	,	,		7542	0.3115		0.2276	False		,,,				2504	0.2372																0													25.0	31.0	29.0					1																	240370934		2135	4205	6340	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2822G>C	1.37:g.240370934G>C	ENSP00000318884:p.Gly941Ala		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	510	0.23351648351648352	149	0.30284552845528456	59	0.16298342541436464	154	0.2692307692307692	148	0.19525065963060687	G	6.179	0.401283	0.11696	.	.	ENSG00000155816	ENST00000319653	T	0.51574	0.7	3.52	2.6	0.31112	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.28291	0.206	B	0.31869	0.137	T	0.28618	-1.0038	7	.	.	.	.	8.7591	0.34663	0.0:0.2724:0.5786:0.149	rs4997328	941	Q9NZ56	FMN2_HUMAN	A	941	ENSP00000318884:G941A	.	G	+	2	0	FMN2	238437557	0.024000	0.19004	0.019000	0.16419	0.001000	0.01503	0.529000	0.23019	1.071000	0.40834	-0.415000	0.06103	GGA		0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
GGT7	2686	hgsc.bcm.edu;ucsc.edu	37	20	33450696	33450696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr20:33450696G>A	ENST00000336431.5	-	3	522	c.478C>T	c.(478-480)Cag>Tag	p.Q160*		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	160					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GAAGATCCCTGTTTACTGAGC	0.617																																																	0													73.0	58.0	63.0					20																	33450696		2203	4300	6503	SO:0001587	stop_gained	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.478C>T	20.37:g.33450696G>A	ENSP00000338964:p.Gln160*		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Nonsense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	g	15.96	2.985896	0.53934	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	.	.	.	5.25	4.24	0.50183	.	0.232106	0.38897	N	0.001533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.8878	12.3908	0.55358	0.0:0.1345:0.7429:0.1226	.	.	.	.	X	160;177	.	ENSP00000338964:Q160X	Q	-	1	0	GGT7	32914357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.221000	0.72243	2.454000	0.82982	0.651000	0.88453	CAG		0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2		NM_178026	
GIPC1	10755	hgsc.bcm.edu	37	19	14591229	14591229	+	Silent	SNP	A	A	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:14591229A>G	ENST00000393033.4	-	6	812	c.543T>C	c.(541-543)atT>atC	p.I181I	GIPC1_ENST00000393028.1_Silent_p.I84I|GIPC1_ENST00000393029.3_Silent_p.I84I|GIPC1_ENST00000586027.1_Silent_p.I181I|GIPC1_ENST00000591349.1_Silent_p.I84I|GIPC1_ENST00000345425.2_Silent_p.I181I	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	181	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCTGCCCGTTAATGGCCTCGA	0.667											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)												0													71.0	72.0	72.0					19																	14591229		2203	4300	6503	SO:0001819	synonymous_variant	10755			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.543T>C	19.37:g.14591229A>G		696	A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	CCDS12310.1																																																																																				0.667	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			
GLYR1	84656	hgsc.bcm.edu;ucsc.edu	37	16	4855240	4855240	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr16:4855240G>C	ENST00000321919.9	-	16	1735	c.1659C>G	c.(1657-1659)caC>caG	p.H553Q	GLYR1_ENST00000591451.1_Missense_Mutation_p.H547Q|ROGDI_ENST00000322048.7_5'Flank|GLYR1_ENST00000436648.5_Missense_Mutation_p.H472Q|GLYR1_ENST00000381983.3_Missense_Mutation_p.H536Q	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	553					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CGACAGCTTAGTGTATGTAGG	0.577																																																	0													118.0	100.0	106.0					16																	4855240		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1659C>G	16.37:g.4855240G>C	ENSP00000322716:p.His553Gln		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540037	0.45176	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.71698	-0.35;-0.3;-0.59	4.72	4.72	0.59763	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	N	0.08118	0	0.58432	D	0.999999	B;P;B;P	0.48016	0.132;0.904;0.056;0.744	B;B;B;P	0.46320	0.038;0.28;0.026;0.512	T	0.54925	-0.8220	10	0.30854	T	0.27	.	10.8623	0.46833	0.0926:0.0:0.9074:0.0	.	472;547;536;553	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	Q	553;536;472	ENSP00000322716:H553Q;ENSP00000371413:H536Q;ENSP00000390276:H472Q	ENSP00000322716:H553Q	H	-	3	2	GLYR1	4795241	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.516000	0.60496	2.159000	0.67721	0.655000	0.94253	CAC		0.577	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2		NM_032569	
GMCL1	64395	hgsc.bcm.edu;ucsc.edu	37	2	70096896	70096896	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:70096896G>T	ENST00000282570.3	+	12	1515	c.1264G>T	c.(1264-1266)Gta>Tta	p.V422L		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	422					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						CGACCTACTTGTAACTTACAC	0.388																																																	0													163.0	144.0	150.0					2																	70096896		2203	4300	6503	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1264G>T	2.37:g.70096896G>T	ENSP00000282570:p.Val422Leu		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532619	0.85812	.	.	ENSG00000087338	ENST00000282570	T	0.55052	0.54	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	L	0.35644	1.08	0.80722	D	1	D	0.56746	0.977	P	0.52343	0.696	T	0.45906	-0.9229	10	0.25751	T	0.34	-33.129	16.6259	0.84970	0.0:0.0:1.0:0.0	.	422	Q96IK5	GMCL1_HUMAN	L	422	ENSP00000282570:V422L	ENSP00000282570:V422L	V	+	1	0	GMCL1	69950400	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.554000	0.82212	2.585000	0.87301	0.655000	0.94253	GTA		0.388	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2		NM_178439	
GRIA4	2893	hgsc.bcm.edu;ucsc.edu	37	11	105795320	105795320	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:105795320G>A	ENST00000530497.1	+	11	1672	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	GRIA4_ENST00000282499.5_Missense_Mutation_p.V558I|GRIA4_ENST00000525187.1_Missense_Mutation_p.V558I|GRIA4_ENST00000393127.2_Missense_Mutation_p.V558I			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	558					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTACATTGGTGTCAGCGTGGT	0.473																																																	0													198.0	173.0	182.0					11																	105795320		2202	4299	6501	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1672G>A	11.37:g.105795320G>A	ENSP00000435775:p.Val558Ile		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977355	0.92982	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.55	5.55	0.83447	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000009	T	0.75019	0.3793	M	0.78344	2.41	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.986;0.995	T	0.77096	-0.2714	10	0.87932	D	0	.	19.8639	0.96797	0.0:0.0:1.0:0.0	.	558;558	P48058;G3V164	GRIA4_HUMAN;.	I	558	ENSP00000282499:V558I;ENSP00000376835:V558I;ENSP00000435775:V558I;ENSP00000432180:V558I	ENSP00000282499:V558I	V	+	1	0	GRIA4	105300530	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.772000	0.95346	0.650000	0.86243	GTC		0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			
GRM4	2914	hgsc.bcm.edu	37	6	34059775	34059775	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr6:34059775C>A	ENST00000538487.2	-	3	1064	c.621G>T	c.(619-621)caG>caT	p.Q207H	GRM4_ENST00000455714.2_Missense_Mutation_p.Q67H|GRM4_ENST00000609222.1_Missense_Mutation_p.Q74H|GRM4_ENST00000374177.3_Missense_Mutation_p.Q138H|GRM4_ENST00000535756.1_Missense_Mutation_p.Q74H|GRM4_ENST00000544773.2_Missense_Mutation_p.Q38H|GRM4_ENST00000374181.4_Missense_Mutation_p.Q207H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	207					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCACCATGGCCTGGGCCTGGT	0.617																																																	0													122.0	88.0	99.0					6																	34059775		2203	4300	6503	SO:0001583	missense	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.621G>T	6.37:g.34059775C>A	ENSP00000440556:p.Gln207His		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546149	0.65198	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	3.83	2.95	0.34219	Extracellular ligand-binding receptor (1);	0.000000	0.64402	U	0.000002	D	0.85660	0.5748	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.999;0.999;0.996;0.996;1.0	D;D;D;D;D;D	0.83275	0.976;0.992;0.996;0.995;0.995;0.995	D	0.84829	0.0801	10	0.44086	T	0.13	.	9.8505	0.41055	0.0:0.8223:0.0:0.1777	.	207;38;67;207;207;74	B7ZLU9;B7Z1T9;F5GXM5;A1L4F9;Q14833;B3KVL9	.;.;.;.;GRM4_HUMAN;.	H	207;138;74;38;207;67	ENSP00000363296:Q207H;ENSP00000363292:Q138H;ENSP00000437925:Q74H;ENSP00000437730:Q38H;ENSP00000440556:Q207H;ENSP00000398456:Q67H	ENSP00000363292:Q138H	Q	-	3	2	GRM4	34167753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.082000	0.41605	0.811000	0.34303	-0.258000	0.10820	CAG		0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			
HNRNPLL	92906	hgsc.bcm.edu	37	2	38800465	38800465	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:38800465T>C	ENST00000449105.3	-	8	1318	c.979A>G	c.(979-981)Atg>Gtg	p.M327V	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.M293V|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.M327V|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.M293V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.M322V			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	327					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CCTCCATGCATGTAAGAGGAA	0.413																																																	0													111.0	107.0	109.0					2																	38800465		2203	4300	6503	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.979A>G	2.37:g.38800465T>C	ENSP00000390625:p.Met327Val		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37		.	.	.	.	.	.	.	.	.	.	T	10.58	1.388806	0.25118	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328	.	.	.	5.42	5.42	0.78866	.	0.114714	0.64402	D	0.000007	T	0.42743	0.1216	N	0.22421	0.69	0.80722	D	1	B;B;B	0.21381	0.055;0.055;0.027	B;B;B	0.18263	0.021;0.021;0.004	T	0.31916	-0.9926	9	0.12766	T	0.61	1.2017	15.7498	0.77976	0.0:0.0:0.0:1.0	.	322;327;327	C9J9G0;D6W592;Q8WVV9	.;.;HNRLL_HUMAN	V	327;322;293;293	.	ENSP00000368195:M293V	M	-	1	0	HNRPLL	38653969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.806000	0.27126	2.172000	0.68678	0.482000	0.46254	ATG		0.413	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2		NM_138394	
ISG15	9636	hgsc.bcm.edu	37	1	949654	949654	+	Silent	SNP	A	A	G	rs8997	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:949654A>G	ENST00000379389.4	+	2	445	c.294A>G	c.(292-294)gtA>gtG	p.V98V	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	98	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTACGAGGTACGGCTGACGC	0.642													A|||	4135	0.825679	0.5083	0.9179	5008	,	,		17827	0.9266		0.9453	False		,,,				2504	0.9622																0								A		2526,1880	618.6+/-393.2	720,1086,397	63.0	60.0	61.0		294	1.2	0.0	1	dbSNP_52	61	8142,456	789.0+/-407.6	3858,426,15	no	coding-synonymous	ISG15	NM_005101.3		4578,1512,412	GG,GA,AA		5.3036,42.6691,17.9637		98/166	949654	10668,2336	2203	4299	6502	SO:0001819	synonymous_variant	9636			BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.294A>G	1.37:g.949654A>G			Q5SVA4|Q7Z2G2|Q96GF0	Silent	SNP	ENST00000379389.4	37	CCDS6.1																																																																																				0.642	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1		NM_005101	
KCNJ12	3768	hgsc.bcm.edu	37	17	21319845	21319845	+	Silent	SNP	C	C	T	rs72846670		TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr17:21319845C>T	ENST00000583088.1	+	3	2086	c.1191C>T	c.(1189-1191)gaC>gaT	p.D397D	KCNJ12_ENST00000331718.5_Silent_p.D397D	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	397					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GAGACCAGGACGGCCGAAGCC	0.662										Prostate(3;0.18)			.|||	1	0.000199681	0.0	0.0014	5008	,	,		29707	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001819	synonymous_variant	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1191C>T	17.37:g.21319845C>T			O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.662	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
LRP8	7804	hgsc.bcm.edu	37	1	53792606	53792606	+	Silent	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:53792606G>T	ENST00000306052.6	-	2	284	c.183C>A	c.(181-183)ccC>ccA	p.P61P	LRP8_ENST00000347547.2_Silent_p.P61P|LRP8_ENST00000354412.3_Silent_p.P61P|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.P61P|RP4-784A16.5_ENST00000445039.2_lincRNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	61	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCCACACAGAGGGGATGCAGC	0.647																																																	0													99.0	90.0	93.0					1																	53792606		2203	4300	6503	SO:0001819	synonymous_variant	7804			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.183C>A	1.37:g.53792606G>T			B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	CCDS578.1																																																																																				0.647	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1		NM_004631	
LRRC48	83450	hgsc.bcm.edu;ucsc.edu	37	17	17910368	17910368	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr17:17910368C>G	ENST00000399187.1	+	12	1451	c.1233C>G	c.(1231-1233)caC>caG	p.H411Q	LRRC48_ENST00000313838.8_Missense_Mutation_p.H411Q|LRRC48_ENST00000399182.1_Missense_Mutation_p.H411Q|LRRC48_ENST00000411504.2_Missense_Mutation_p.H411Q|LRRC48_ENST00000584166.1_Missense_Mutation_p.H411Q	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	411						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TGGAGAATCACCACCACGAGA	0.647																																																	0													36.0	40.0	38.0					17																	17910368		2019	4175	6194	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1233C>G	17.37:g.17910368C>G	ENSP00000382140:p.His411Gln		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761347	0.15914	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.34	1.75	0.24633	.	0.258781	0.43919	D	0.000517	T	0.20373	0.0490	N	0.20685	0.6	0.80722	D	1	B;B	0.23806	0.091;0.033	B;B	0.17433	0.007;0.018	T	0.15435	-1.0437	10	0.02654	T	1	-34.1312	9.1264	0.36818	0.0:0.6433:0.0:0.3567	.	411;411	Q9H069;Q9H069-2	LRC48_HUMAN;.	Q	411	ENSP00000326870:H411Q;ENSP00000394020:H411Q;ENSP00000382140:H411Q;ENSP00000382136:H411Q	ENSP00000326870:H411Q	H	+	3	2	LRRC48	17851093	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.524000	0.22940	0.623000	0.30267	-0.226000	0.12346	CAC		0.647	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3		NM_031294	
LRRC8B	23507	hgsc.bcm.edu;ucsc.edu	37	1	90049857	90049857	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:90049857T>C	ENST00000330947.2	+	5	2008	c.1648T>C	c.(1648-1650)Tcc>Ccc	p.S550P	LRRC8B_ENST00000358200.4_Missense_Mutation_p.S550P|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S550P|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	550					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GAGCAGCCTCTCCCGGATCCC	0.458																																																	0													55.0	59.0	57.0					1																	90049857		2203	4300	6503	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1648T>C	1.37:g.90049857T>C	ENSP00000332674:p.Ser550Pro		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	CCDS724.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473272	0.26423	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.01015	5.44;5.44;5.44	5.53	5.53	0.82687	.	0.074619	0.56097	D	0.000022	T	0.00412	0.0013	L	0.28400	0.85	0.45227	D	0.998231	B	0.09022	0.002	B	0.06405	0.002	T	0.58896	-0.7555	9	.	.	.	.	10.3305	0.43820	0.0:0.0737:0.0:0.9263	.	550	Q6P9F7	LRC8B_HUMAN	P	550	ENSP00000332674:S550P;ENSP00000350933:S550P;ENSP00000400704:S550P	.	S	+	1	0	LRRC8B	89822445	0.998000	0.40836	0.998000	0.56505	0.924000	0.55760	3.177000	0.50871	2.220000	0.72140	0.533000	0.62120	TCC		0.458	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1		NM_015350	
MAGEB16	139604	hgsc.bcm.edu;ucsc.edu	37	X	35821146	35821146	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:35821146G>A	ENST00000399989.1	+	2	1112	c.833G>A	c.(832-834)gGc>gAc	p.G278D	MAGEB16_ENST00000399992.1_Missense_Mutation_p.G310D|MAGEB16_ENST00000399988.1_Missense_Mutation_p.G278D|MAGEB16_ENST00000399985.1_Missense_Mutation_p.G278D|MAGEB16_ENST00000399987.1_Missense_Mutation_p.G278D	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	278	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCCTGTGGGGCCCAAGAGCC	0.493																																																	0													36.0	37.0	36.0					X																	35821146		2201	4300	6501	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.833G>A	X.37:g.35821146G>A	ENSP00000382871:p.Gly278Asp		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058599	0.36277	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	3.13	2.27	0.28462	.	0.051919	0.85682	N	0.000000	T	0.45276	0.1334	M	0.93808	3.46	0.26833	N	0.968549	D	0.89917	1.0	D	0.83275	0.996	T	0.33497	-0.9866	10	0.62326	D	0.03	.	5.8226	0.18536	0.1511:0.0:0.8489:0.0	.	278	A2A368	MAGBG_HUMAN	D	278;310;278;278;278	ENSP00000382870:G278D;ENSP00000382874:G310D;ENSP00000382869:G278D;ENSP00000382871:G278D;ENSP00000382867:G278D	ENSP00000382867:G278D	G	+	2	0	MAGEB16	35731067	0.988000	0.35896	0.781000	0.31783	0.473000	0.32948	1.830000	0.39131	0.743000	0.32719	-0.286000	0.09958	GGC		0.493	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			
MSLN	10232	hgsc.bcm.edu	37	16	813650	813650	+	Silent	SNP	G	G	A	rs3765319	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr16:813650G>A	ENST00000382862.3	+	4	233	c.138G>A	c.(136-138)gcG>gcA	p.A46A	MSLN_ENST00000545450.2_Silent_p.A46A|MSLN_ENST00000563941.1_Silent_p.A46A|MSLN_ENST00000566549.1_Silent_p.A46A	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	46					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AGGAGGCTGCGCCCCTGGACG	0.662													G|||	724	0.144569	0.0477	0.1153	5008	,	,		11642	0.3006		0.1501	False		,,,				2504	0.1299																0								G	,,	299,4089	156.6+/-189.7	11,277,1906	37.0	34.0	35.0		138,138,138	-3.2	0.0	16	dbSNP_107	35	1605,6979	289.3+/-299.2	158,1289,2845	no	coding-synonymous,coding-synonymous,coding-synonymous	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	,,	169,1566,4751	AA,AG,GG		18.6976,6.814,14.6778	,,	46/623,46/623,46/631	813650	1904,11068	2194	4292	6486	SO:0001819	synonymous_variant	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.138G>A	16.37:g.813650G>A			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																				0.662	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9087231	9087231	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:9087231T>G	ENST00000397910.4	-	1	4787	c.4584A>C	c.(4582-4584)agA>agC	p.R1528S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1528	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCCCCAGTTCTGCCCAAAC	0.468																																																	0													305.0	285.0	292.0					19																	9087231		2017	4179	6196	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4584A>C	19.37:g.9087231T>G	ENSP00000381008:p.Arg1528Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.227	-0.377049	0.05000	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	0.821	-0.553	0.11815	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.10296	0.003	B	0.04013	0.001	T	0.44406	-0.9330	8	0.87932	D	0	.	2.8029	0.05419	0.4643:0.0:0.0:0.5357	.	1528	B5ME49	.	S	1528	ENSP00000381008:R1528S	ENSP00000381008:R1528S	R	-	3	2	MUC16	8948231	0.000000	0.05858	0.006000	0.13384	0.026000	0.11368	-0.758000	0.04766	-0.290000	0.09025	0.260000	0.18958	AGA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MYT1L	23040	hgsc.bcm.edu;ucsc.edu	37	2	1926319	1926319	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:1926319G>A	ENST00000399161.2	-	10	1969	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	MYT1L_ENST00000428368.2_Missense_Mutation_p.R408W	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	408					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCGTCGTCCCGCTCATGACAC	0.572																																																	0													69.0	69.0	69.0					2																	1926319		2144	4246	6390	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1222C>T	2.37:g.1926319G>A	ENSP00000382114:p.Arg408Trp		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	14.70	2.612571	0.46631	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.47869	0.83;0.83	5.97	-0.454	0.12197	.	0.263887	0.43260	D	0.000589	T	0.45736	0.1357	L	0.27053	0.805	0.43632	D	0.996028	D;D	0.71674	0.997;0.998	P;P	0.57776	0.563;0.827	T	0.40117	-0.9580	10	0.72032	D	0.01	-21.4504	11.1983	0.48726	0.0:0.062:0.4907:0.4472	.	408;408	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	W	408;356;408	ENSP00000382114:R408W;ENSP00000396103:R408W	ENSP00000295067:R356W	R	-	1	2	MYT1L	1905326	1.000000	0.71417	0.024000	0.17045	0.272000	0.26649	0.752000	0.26362	-0.289000	0.09038	0.655000	0.94253	CGG		0.572	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025	
NALCN	259232	hgsc.bcm.edu;ucsc.edu	37	13	101944628	101944628	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr13:101944628G>A	ENST00000251127.6	-	8	970	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	NALCN_ENST00000376196.3_Missense_Mutation_p.R297C|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	297					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R297C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGTAGGAACGCCAACGGGGA	0.458																																																	1	Substitution - Missense(1)	endometrium(1)											86.0	69.0	75.0					13																	101944628		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.889C>T	13.37:g.101944628G>A	ENSP00000251127:p.Arg297Cys		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062118	0.93846	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98437	-4.93;-4.93	6.16	6.16	0.99307	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.971;0.998;0.978	D	0.98648	1.0678	10	0.39692	T	0.17	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	297;297;297	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	C	297	ENSP00000251127:R297C;ENSP00000365367:R297C	ENSP00000251127:R297C	R	-	1	0	NALCN	100742629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.937000	0.99478	0.650000	0.86243	CGT		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867	
NEGR1	257194	hgsc.bcm.edu;ucsc.edu	37	1	71873192	71873192	+	Silent	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:71873192G>A	ENST00000357731.5	-	7	1241	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|NEGR1_ENST00000434200.1_Silent_p.Y288Y|NEGR1_ENST00000306821.3_Silent_p.Y206Y|ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	334					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAACACAAGGTACCAGCAGG	0.393																																																	0													90.0	89.0	89.0					1																	71873192		2203	4299	6502	SO:0001819	synonymous_variant	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1002C>T	1.37:g.71873192G>A			Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	CCDS661.1																																																																																				0.393	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4		NM_173808	
NUAK1	9891	hgsc.bcm.edu	37	12	106461281	106461281	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr12:106461281A>G	ENST00000261402.2	-	7	2664	c.1285T>C	c.(1285-1287)Ttc>Ctc	p.F429L		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	429					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCCATCTTGAAAGTAGAGGGT	0.577																																																	0													75.0	76.0	75.0					12																	106461281		2203	4300	6503	SO:0001583	missense	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1285T>C	12.37:g.106461281A>G	ENSP00000261402:p.Phe429Leu		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	A	9.457	1.092102	0.20471	.	.	ENSG00000074590	ENST00000261402	T	0.72051	-0.62	5.56	4.42	0.53409	.	0.000000	0.56097	D	0.000025	T	0.53883	0.1824	N	0.25647	0.755	0.40685	D	0.982341	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.11794	T	0.64	.	11.429	0.50029	0.9293:0.0:0.0706:0.0	.	429	O60285	NUAK1_HUMAN	L	429	ENSP00000261402:F429L	ENSP00000261402:F429L	F	-	1	0	NUAK1	104985411	0.999000	0.42202	0.778000	0.31720	0.951000	0.60555	3.957000	0.56730	0.949000	0.37715	0.402000	0.26972	TTC		0.577	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2		NM_014840	
NWD1	284434	hgsc.bcm.edu	37	19	16910780	16910780	+	Silent	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:16910780G>T	ENST00000552788.1	+	15	3543	c.3543G>T	c.(3541-3543)ggG>ggT	p.G1181G	CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000523826.1_Silent_p.G975G|NWD1_ENST00000379808.3_Silent_p.G1181G|NWD1_ENST00000339803.6_Silent_p.G1046G|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000524140.2_Silent_p.G1181G			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1181							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCGCGGCGGGGCTTTGGTGG	0.622																																																	0													51.0	50.0	50.0					19																	16910780		2203	4300	6503	SO:0001819	synonymous_variant	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3543G>T	19.37:g.16910780G>T			C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																					0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		NM_001007525	
OGDH	4967	hgsc.bcm.edu	37	7	44747514	44747514	+	Silent	SNP	C	C	T	rs61756583	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr7:44747514C>T	ENST00000222673.5	+	23	3030	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	OGDH_ENST00000444676.1_Silent_p.T1011T|OGDH_ENST00000449767.1_Silent_p.T992T|OGDH_ENST00000439616.2_Silent_p.T846T|OGDH_ENST00000543843.1_Silent_p.T947T|OGDH_ENST00000447398.1_Silent_p.T1007T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	996					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTCCAGCCACCGGCAACAAGA	0.642													C|||	234	0.0467252	0.0038	0.0504	5008	,	,		17701	0.0823		0.0417	False		,,,				2504	0.0706																0								C	,	51,4355	49.6+/-84.7	1,49,2153	58.0	54.0	55.0		2976,2988	-7.0	0.9	7	dbSNP_129	55	471,8129	137.3+/-194.3	10,451,3839	no	coding-synonymous,coding-synonymous	OGDH	NM_001165036.1,NM_002541.3	,	11,500,5992	TT,TC,CC		5.4767,1.1575,4.0135	,	992/1020,996/1024	44747514	522,12484	2203	4300	6503	SO:0001819	synonymous_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2988C>T	7.37:g.44747514C>T			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																				0.642	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			
OR2T35	403244	hgsc.bcm.edu	37	1	248802249	248802250	+	In_Frame_Ins	INS	-	-	AGA	rs201914328|rs201931676|rs200445622	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:248802249_248802250insAGA	ENST00000317450.3	-	1	309_310	c.310_311insTCT	c.(310-312)tac>tTCTac	p.103_104insF		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGGGTCAGGTAGAAGATTTGA	0.525														4304	0.859425	0.7088	0.8919	5008	,	,		2563	0.9315		0.8956	False		,,,				2504	0.9284																0																																										SO:0001652	inframe_insertion	403244			BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.308_310dupTCT	1.37:g.248802253_248802255dupAGA	ENSP00000324369:p.Phe103_Phe103dup		Q6IEY7	In_Frame_Ins	INS	ENST00000317450.3	37	CCDS31123.1																																																																																				0.525	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1		NM_001001827	
OR6K2	81448	hgsc.bcm.edu;ucsc.edu	37	1	158669955	158669955	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:158669955G>C	ENST00000359610.2	-	1	531	c.488C>G	c.(487-489)tCt>tGt	p.S163C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGCAGTGTAGAGATCCAGGC	0.488																																																	0													119.0	105.0	110.0					1																	158669955		2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.488C>G	1.37:g.158669955G>C	ENSP00000352626:p.Ser163Cys		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127299	0.56721	.	.	ENSG00000196171	ENST00000359610	T	0.00169	8.63	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37809	N	0.001940	T	0.00300	0.0009	M	0.79926	2.475	0.19945	N	0.999949	D	0.89917	1.0	D	0.79108	0.992	T	0.56226	-0.8014	10	0.39692	T	0.17	-14.0467	15.5046	0.75728	0.0:0.0:1.0:0.0	.	163	Q8NGY2	OR6K2_HUMAN	C	163	ENSP00000352626:S163C	ENSP00000352626:S163C	S	-	2	0	OR6K2	156936579	0.002000	0.14202	0.999000	0.59377	0.857000	0.48899	1.082000	0.30803	2.494000	0.84150	0.650000	0.86243	TCT		0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1		NM_001005279	
PASK	23178	hgsc.bcm.edu	37	2	242047620	242047620	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:242047620A>T	ENST00000405260.1	-	16	4327	c.3629T>A	c.(3628-3630)gTg>gAg	p.V1210E	PASK_ENST00000358649.4_Missense_Mutation_p.V1217E|PASK_ENST00000234040.4_Missense_Mutation_p.V1210E|PASK_ENST00000544142.1_Missense_Mutation_p.V1024E|PASK_ENST00000539818.1_Missense_Mutation_p.V994E|PASK_ENST00000475666.1_5'UTR	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> M (in dbSNP:rs10167000). {ECO:0000269|PubMed:17344846}.		negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGCAGCCTCCACGGTCTCCTC	0.562																																																	0													120.0	111.0	114.0					2																	242047620		2203	4300	6503	SO:0001583	missense	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3629T>A	2.37:g.242047620A>T	ENSP00000384016:p.Val1210Glu		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.718440	0.68844	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.268080	0.31542	N	0.007469	T	0.68247	0.2980	L	0.41236	1.265	0.49582	D	0.999803	P;P;P;P	0.39576	0.679;0.629;0.629;0.679	P;B;B;P	0.47603	0.551;0.416;0.416;0.551	T	0.71961	-0.4434	10	0.87932	D	0	.	15.806	0.78513	1.0:0.0:0.0:0.0	.	1175;1024;1217;1210	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	E	1210;1024;1210;1217;994	ENSP00000234040:V1210E;ENSP00000441374:V1024E;ENSP00000384016:V1210E;ENSP00000351475:V1217E;ENSP00000443083:V994E	ENSP00000234040:V1210E	V	-	2	0	PASK	241696293	1.000000	0.71417	0.947000	0.38551	0.528000	0.34623	6.936000	0.75892	2.196000	0.70406	0.533000	0.62120	GTG		0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1		NM_015148	
PCDHB3	56132	hgsc.bcm.edu;ucsc.edu	37	5	140481267	140481267	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr5:140481267C>A	ENST00000231130.2	+	1	1034	c.1034C>A	c.(1033-1035)cCg>cAg	p.P345Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	345	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACCCACCGGAACTGACC	0.483																																																	0													85.0	82.0	83.0					5																	140481267		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1034C>A	5.37:g.140481267C>A	ENSP00000231130:p.Pro345Gln		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145825	0.77888	.	.	ENSG00000113205	ENST00000231130	D	0.81579	-1.51	4.93	4.93	0.64822	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.94938	0.8363	H	0.99642	4.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97626	1.0139	9	0.87932	D	0	.	18.5316	0.90995	0.0:1.0:0.0:0.0	.	345	Q9Y5E6	PCDB3_HUMAN	Q	345	ENSP00000231130:P345Q	ENSP00000231130:P345Q	P	+	2	0	PCDHB3	140461451	1.000000	0.71417	0.988000	0.46212	0.818000	0.46254	7.756000	0.85195	2.438000	0.82558	0.655000	0.94253	CCG		0.483	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2		NM_018937	
PCMTD1	115294	hgsc.bcm.edu;ucsc.edu	37	8	52773607	52773607	+	Silent	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr8:52773607C>A	ENST00000360540.5	-	3	511	c.105G>T	c.(103-105)gcG>gcT	p.A35A	PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000521344.1_Silent_p.A35A|PCMTD1_ENST00000522514.1_Silent_p.A35A	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	35						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CACGATCAATCGCTCTGAAGG	0.418																																																	0													90.0	82.0	85.0					8																	52773607		2203	4300	6503	SO:0001819	synonymous_variant	115294				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.105G>T	8.37:g.52773607C>A			Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1																																																																																				0.418	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2		NM_052937	
PDS5A	23244	hgsc.bcm.edu;ucsc.edu	37	4	39850476	39850476	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr4:39850476C>T	ENST00000303538.8	-	28	3873	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATTACCTTTTCAGGTTGTGTA	0.363																																																	0													81.0	79.0	79.0					4																	39850476		1825	4089	5914	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3334G>A	4.37:g.39850476C>T	ENSP00000303427:p.Glu1112Lys			Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198626	0.79015	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.47	5.47	0.80525	.	0.047188	0.85682	D	0.000000	T	0.44350	0.1289	N	0.14661	0.345	0.80722	D	1	B	0.25719	0.132	B	0.28916	0.096	T	0.30707	-0.9969	8	.	.	.	-19.2423	19.3219	0.94245	0.0:1.0:0.0:0.0	.	1112	Q29RF7	PDS5A_HUMAN	K	1112	.	.	E	-	1	0	PDS5A	39526871	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.298000	0.78815	2.538000	0.85594	0.655000	0.94253	GAA		0.363	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1		NM_015200	
PHF6	84295	hgsc.bcm.edu;ucsc.edu	37	X	133547905	133547905	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:133547905G>T	ENST00000332070.3	+	7	840	c.638G>T	c.(637-639)gGa>gTa	p.G213V	PHF6_ENST00000394292.1_Missense_Mutation_p.G214V|PHF6_ENST00000370803.3_Missense_Mutation_p.G213V|PHF6_ENST00000416404.2_Missense_Mutation_p.G179V|PHF6_ENST00000370799.1_Missense_Mutation_p.G214V|PHF6_ENST00000370800.4_Missense_Mutation_p.G214V	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	213	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					CCTAAATGTGGATTTTGCCAT	0.398			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)			Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0													109.0	98.0	102.0					X																	133547905		2203	4300	6503	SO:0001583	missense	84295			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.638G>T	X.37:g.133547905G>T	ENSP00000329097:p.Gly213Val		A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234748	0.58886	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.89746	-2.56;-2.56;-1.96;-2.55;-1.54;-2.47	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89949	0.6863	L	0.29908	0.895	0.80722	D	1	P;D;D;D;P	0.89917	0.761;1.0;1.0;1.0;0.933	B;D;D;D;P	0.97110	0.42;1.0;0.998;0.998;0.732	D	0.85367	0.1111	10	0.07482	T	0.82	-19.3005	17.6836	0.88250	0.0:0.0:1.0:0.0	.	179;213;213;214;214	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	V	213;213;214;214;179;214	ENSP00000359839:G213V;ENSP00000329097:G213V;ENSP00000377831:G214V;ENSP00000359835:G214V;ENSP00000394480:G179V;ENSP00000359836:G214V	ENSP00000329097:G213V	G	+	2	0	PHF6	133375571	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	9.399000	0.97285	2.480000	0.83734	0.594000	0.82650	GGA		0.398	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1		NM_032458	
PLEKHA1	59338	hgsc.bcm.edu;ucsc.edu	37	10	124189325	124189325	+	Silent	SNP	T	T	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr10:124189325T>A	ENST00000368990.3	+	12	1217	c.1086T>A	c.(1084-1086)tcT>tcA	p.S362S	PLEKHA1_ENST00000368988.1_Missense_Mutation_p.L376H|PLEKHA1_ENST00000433307.1_Silent_p.S362S|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L376H	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	362					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGACTGTCTCTCCAAGAGAAC	0.468																																																	0													96.0	90.0	92.0					10																	124189325		2203	4300	6503	SO:0001819	synonymous_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.1086T>A	10.37:g.124189325T>A			B3KQ55|D3DRE2|Q9BVK0	Silent	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219694	0.79464	.	.	ENSG00000107679	ENST00000368989;ENST00000368988	T;T	0.11821	2.74;2.74	5.71	5.71	0.89125	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01879	-1.1255	6	0.56958	D	0.05	-4.4286	16.2826	0.82703	0.0:0.0:0.0:1.0	.	.	.	.	H	376	ENSP00000357985:L376H;ENSP00000357984:L376H	ENSP00000357984:L376H	L	+	2	0	PLEKHA1	124179315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.493000	0.73658	2.307000	0.77673	0.528000	0.53228	CTC		0.468	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1		NM_001001974	
PRR19	284338	hgsc.bcm.edu	37	19	42814578	42814578	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:42814578G>A	ENST00000499536.2	+	2	1568	c.757G>A	c.(757-759)Ggg>Agg	p.G253R	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Missense_Mutation_p.G253R|TMEM145_ENST00000598766.1_5'Flank|TMEM145_ENST00000301204.3_5'Flank			A6NJB7	PRR19_HUMAN	proline rich 19	253	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGCGCACAGGGGGAGTCTGGC	0.582																																																	0													129.0	122.0	124.0					19																	42814578		2203	4300	6503	SO:0001583	missense	284338			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.757G>A	19.37:g.42814578G>A	ENSP00000445247:p.Gly253Arg		A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972711	0.02215	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	3.89	2.86	0.33363	.	0.689771	0.11073	U	0.602703	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	1	B	0.27791	0.189	B	0.24848	0.056	T	0.15065	-1.0450	9	0.37606	T	0.19	0.0213	7.3674	0.26781	0.1179:0.0:0.8821:0.0	.	253	A6NJB7	PRR19_HUMAN	R	253	.	ENSP00000342709:G253R	G	+	1	0	PRR19	47506418	0.068000	0.21057	0.017000	0.16124	0.017000	0.09413	2.703000	0.47110	1.215000	0.43411	0.643000	0.83706	GGG		0.582	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1		NM_199285	
PRKD2	25865	hgsc.bcm.edu	37	19	47177809	47177809	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:47177809C>T	ENST00000291281.4	-	18	2833	c.2608G>A	c.(2608-2610)Ggg>Agg	p.G870R	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.G713R|PRKD2_ENST00000595515.1_Missense_Mutation_p.G880R|PRKD2_ENST00000433867.1_Missense_Mutation_p.G870R|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.G713R			Q9BZL6	KPCD2_HUMAN	protein kinase D2	870			G -> E (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCCGCCAGCCCCTGCATGTCG	0.632																																																	0													45.0	33.0	37.0					19																	47177809		2203	4300	6503	SO:0001583	missense	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2608G>A	19.37:g.47177809C>T	ENSP00000291281:p.Gly870Arg		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646784	0.67358	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65732	-0.17;-0.17	4.2	4.2	0.49525	.	0.082535	0.44902	D	0.000406	T	0.50446	0.1616	N	0.25647	0.755	0.39490	D	0.968037	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.11329	0.006;0.004;0.006	T	0.52268	-0.8598	10	0.48119	T	0.1	-39.3968	15.8425	0.78861	0.0:1.0:0.0:0.0	.	880;355;870	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	R	870	ENSP00000291281:G870R;ENSP00000393978:G870R	ENSP00000291281:G870R	G	-	1	0	PRKD2	51869649	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	3.777000	0.55364	2.332000	0.79248	0.655000	0.94253	GGG		0.632	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457	
PTEN	5728	hgsc.bcm.edu	37	10	89692891	89692891	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr10:89692891A>C	ENST00000371953.3	+	5	1732	c.375A>C	c.(373-375)aaA>aaC	p.K125N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	125	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.K125N(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCACTGTAAAGCTGGAAAGG	0.403		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(1)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	GRCh37	CI004327	PTEN	I							141.0	130.0	134.0					10																	89692891		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.375A>C	10.37:g.89692891A>C	ENSP00000361021:p.Lys125Asn		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385476	0.82792	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98283	1.0509	9	.	.	.	-13.1019	15.1019	0.72284	1.0:0.0:0.0:0.0	.	125	P60484	PTEN_HUMAN	N	125	ENSP00000361021:K125N	.	K	+	3	2	PTEN	89682871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.925000	0.75829	1.953000	0.56701	0.533000	0.62120	AAA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
PTPRJ	5795	hgsc.bcm.edu;ucsc.edu	37	11	48171013	48171013	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:48171013A>C	ENST00000418331.2	+	16	3366	c.3014A>C	c.(3013-3015)aAt>aCt	p.N1005T		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1005					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GATGCAAAGAATAATGAAGTG	0.328																																																	0													119.0	132.0	128.0					11																	48171013		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3014A>C	11.37:g.48171013A>C	ENSP00000400010:p.Asn1005Thr		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955608	0.34471	.	.	ENSG00000149177	ENST00000418331	T	0.13657	2.57	5.81	5.81	0.92471	.	.	.	.	.	T	0.32285	0.0824	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01464	-1.1348	9	0.40728	T	0.16	.	12.5586	0.56267	1.0:0.0:0.0:0.0	.	1005	Q12913	PTPRJ_HUMAN	T	1005	ENSP00000400010:N1005T	ENSP00000400010:N1005T	N	+	2	0	PTPRJ	48127589	1.000000	0.71417	0.992000	0.48379	0.444000	0.32077	3.961000	0.56759	2.210000	0.71456	0.533000	0.62120	AAT		0.328	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			
RNF44	22838	hgsc.bcm.edu;ucsc.edu	37	5	175957205	175957206	+	Splice_Site	DEL	TG	TG	-			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr5:175957205_175957206delTG	ENST00000274811.4	-	7	1327_1328	c.803_804delCA	c.(802-804)cca>c	p.P268fs	RNF44_ENST00000537487.1_Splice_Site_p.P187fs|RNF44_ENST00000509404.1_5'Flank	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	268	Pro-rich.						zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGAGAATATGGCTGCAAGAG	0.703																																																	0																																										SO:0001630	splice_region_variant	22838			AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.802-1CA>-	5.37:g.175957205_175957206delTG			B4DYE0|Q8ND05|Q9UPQ2	Frame_Shift_Del	DEL	ENST00000274811.4	37	CCDS4404.1																																																																																				0.703	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			Frame_Shift_Del
ROBO4	54538	hgsc.bcm.edu	37	11	124763776	124763776	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:124763776G>A	ENST00000306534.3	-	9	1969	c.1484C>T	c.(1483-1485)gCt>gTt	p.A495V	ROBO4_ENST00000533054.1_Missense_Mutation_p.A350V|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	495					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A495D(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTGCACCCTAGCTCGGCGCCG	0.632																																																	1	Substitution - Missense(1)	ovary(1)											19.0	23.0	22.0					11																	124763776		2200	4297	6497	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1484C>T	11.37:g.124763776G>A	ENSP00000304945:p.Ala495Val		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810268	0.50421	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64618	-0.11;0.26	5.31	4.34	0.51931	.	0.000000	0.37219	N	0.002184	T	0.57169	0.2035	M	0.63428	1.95	0.09310	N	1	B;P;P	0.44734	0.16;0.617;0.842	B;B;B	0.39660	0.088;0.306;0.095	T	0.59032	-0.7530	10	0.51188	T	0.08	.	11.1115	0.48235	0.0:0.1866:0.8134:0.0	.	495;385;495	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	V	495;385;350	ENSP00000304945:A495V;ENSP00000437129:A350V	ENSP00000304945:A495V	A	-	2	0	ROBO4	124268986	0.030000	0.19436	0.257000	0.24404	0.949000	0.60115	2.179000	0.42528	2.481000	0.83766	0.655000	0.94253	GCT		0.632	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1		NM_019055	
RPH3AL	9501	hgsc.bcm.edu	37	17	171098	171098	+	Silent	SNP	T	T	G	rs73971738	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr17:171098T>G	ENST00000331302.7	-	4	493	c.186A>C	c.(184-186)gcA>gcC	p.A62A	RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000323434.8_Silent_p.A62A|RPH3AL_ENST00000536489.2_Silent_p.A62A|RP11-1260E13.1_ENST00000572998.1_RNA	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	62	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CGAGCCGCTCTGCCCTCTGGA	0.682													G|||	700	0.139776	0.2708	0.0893	5008	,	,		13780	0.0536		0.1173	False		,,,				2504	0.1104																0								G	,,,	1093,3313	720.2+/-409.0	124,845,1234	85.0	85.0	85.0		186,186,186,186	-5.0	0.9	17	dbSNP_130	85	1079,7521	768.7+/-407.6	73,933,3294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RPH3AL	NM_001190411.1,NM_001190412.1,NM_001190413.1,NM_006987.3	,,,	197,1778,4528	GG,GT,TT		12.5465,24.8071,16.7	,,,	62/316,62/287,62/287,62/316	171098	2172,10834	2203	4300	6503	SO:0001819	synonymous_variant	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.186A>C	17.37:g.171098T>G			D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	CCDS10994.1																																																																																				0.682	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2		NM_006987	
SENP6	26054	hgsc.bcm.edu;ucsc.edu	37	6	76388338	76388338	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr6:76388338G>C	ENST00000447266.2	+	15	2366	c.1888G>C	c.(1888-1890)Gaa>Caa	p.E630Q	SENP6_ENST00000370010.2_Missense_Mutation_p.E623Q|SENP6_ENST00000541192.1_Missense_Mutation_p.E226Q|SENP6_ENST00000327284.8_Missense_Mutation_p.E623Q|SENP6_ENST00000370014.3_Missense_Mutation_p.E630Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	630					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAGCAAACAAGAATTTCAGTT	0.308																																																	0													107.0	101.0	103.0					6																	76388338		1797	4062	5859	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1888G>C	6.37:g.76388338G>C	ENSP00000402527:p.Glu630Gln		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	6.894	0.534445	0.13188	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.31510	2.72;2.72;1.49;2.72;1.49;1.49	5.83	3.99	0.46301	.	0.414193	0.29225	N	0.012773	T	0.04497	0.0123	N	0.02315	-0.6	0.28282	N	0.923924	B;B;B	0.13594	0.003;0.002;0.008	B;B;B	0.17433	0.005;0.002;0.018	T	0.35773	-0.9775	10	0.13853	T	0.58	-13.4978	14.7149	0.69259	0.0:0.5644:0.4356:0.0	.	623;630;623	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	Q	623;630;623;630;520;226	ENSP00000359027:E623Q;ENSP00000359031:E630Q;ENSP00000321820:E623Q;ENSP00000402527:E630Q;ENSP00000391426:E520Q;ENSP00000441715:E226Q	ENSP00000321820:E623Q	E	+	1	0	SENP6	76445058	1.000000	0.71417	0.985000	0.45067	0.914000	0.54420	3.431000	0.52814	1.443000	0.47586	0.655000	0.94253	GAA		0.308	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2		NM_015571	
SIGLEC8	27181	hgsc.bcm.edu	37	19	51958885	51958885	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:51958885G>A	ENST00000321424.3	-	4	904	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R187C|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R171C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	280	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGACCAGGCGCAGAGACTGG	0.592																																																	0													72.0	71.0	71.0					19																	51958885		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.838C>T	19.37:g.51958885G>A	ENSP00000321077:p.Arg280Cys		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.51	1.661657	0.29515	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.12672	2.66;2.66;2.66	2.19	-0.0813	0.13703	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198225	0.25154	N	0.032724	T	0.11196	0.0273	M	0.63843	1.955	0.09310	N	1	P;P;B	0.44690	0.838;0.841;0.434	B;B;B	0.39590	0.259;0.304;0.189	T	0.18335	-1.0340	10	0.30854	T	0.27	.	4.8029	0.13305	0.311:0.0:0.689:0.0	.	171;187;280	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	171;280;187	ENSP00000389142:R171C;ENSP00000321077:R280C;ENSP00000339448:R187C	ENSP00000321077:R280C	R	-	1	0	SIGLEC8	56650697	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.052000	0.11865	0.057000	0.16193	0.502000	0.49764	CGC		0.592	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442	
STARD9	57519	hgsc.bcm.edu	37	15	42978600	42978600	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr15:42978600T>G	ENST00000290607.7	+	23	4881	c.4824T>G	c.(4822-4824)ttT>ttG	p.F1608L		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	1608					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CACAGGTCTTTGCAACAGAGA	0.433																																																	0													94.0	81.0	85.0					15																	42978600		692	1590	2282	SO:0001583	missense	57519			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.4824T>G	15.37:g.42978600T>G	ENSP00000290607:p.Phe1608Leu		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	ENST00000290607.7	37	CCDS53935.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879437	0.51801	.	.	ENSG00000159433	ENST00000290607	T	0.67698	-0.28	5.57	-1.48	0.08745	.	0.685475	0.11496	U	0.558167	T	0.54822	0.1882	L	0.43152	1.355	0.09310	N	1	.	.	.	.	.	.	T	0.52268	-0.8598	8	0.66056	D	0.02	0.0014	1.3834	0.02235	0.1326:0.1549:0.2748:0.4377	.	.	.	.	L	1608	ENSP00000290607:F1608L	ENSP00000290607:F1608L	F	+	3	2	STARD9	40765892	0.022000	0.18835	0.000000	0.03702	0.058000	0.15608	2.139000	0.42149	-0.555000	0.06142	0.383000	0.25322	TTT		0.433	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431094.1			
TAS2R9	50835	hgsc.bcm.edu;ucsc.edu	37	12	10962229	10962229	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr12:10962229T>A	ENST00000240691.2	-	1	538	c.446A>T	c.(445-447)aAt>aTt	p.N149I	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	149					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATATCATCATTCTTTGGAAC	0.358																																																	0													54.0	56.0	55.0					12																	10962229		2203	4300	6503	SO:0001583	missense	50835			AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.446A>T	12.37:g.10962229T>A	ENSP00000240691:p.Asn149Ile		Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	T	9.152	1.016508	0.19355	.	.	ENSG00000121381	ENST00000240691	T	0.00768	5.72	4.3	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	1.555650	0.04166	U	0.323998	T	0.01189	0.0039	N	0.10809	0.05	0.09310	N	1	D	0.56968	0.978	D	0.63703	0.917	T	0.52193	-0.8608	10	0.18710	T	0.47	.	2.9576	0.05882	0.1892:0.1752:0.0:0.6356	.	149	Q9NYW1	TA2R9_HUMAN	I	149	ENSP00000240691:N149I	ENSP00000240691:N149I	N	-	2	0	TAS2R9	10853496	0.000000	0.05858	0.010000	0.14722	0.026000	0.11368	-0.837000	0.04377	0.474000	0.27392	0.481000	0.45027	AAT		0.358	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			
STAT6	6778	hgsc.bcm.edu;ucsc.edu	37	12	57501489	57501489	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr12:57501489A>C	ENST00000300134.3	-	3	479	c.154T>G	c.(154-156)Ttg>Gtg	p.L52V	STAT6_ENST00000454075.3_Missense_Mutation_p.L52V|STAT6_ENST00000543873.2_Missense_Mutation_p.L52V|STAT6_ENST00000556155.1_Missense_Mutation_p.L52V|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	52					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCACTAGCCAAGTTGCAGCAG	0.592																																																	0													77.0	65.0	69.0					12																	57501489		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.154T>G	12.37:g.57501489A>C	ENSP00000300134:p.Leu52Val		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	A	7.402	0.632992	0.14322	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825;ENST00000557635;ENST00000553275	T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.88	2.5	0.30297	STAT transcription factor, protein interaction (4);	0.312383	0.35436	N	0.003217	T	0.27349	0.0671	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05550	-1.0878	10	0.20046	T	0.44	-11.3277	4.2639	0.10754	0.1769:0.0939:0.0:0.7292	.	52;52	A8K4S9;P42226	.;STAT6_HUMAN	V	52	ENSP00000300134:L52V;ENSP00000438451:L52V;ENSP00000451742:L52V;ENSP00000401486:L52V;ENSP00000452394:L52V;ENSP00000452373:L52V;ENSP00000451074:L52V;ENSP00000452203:L52V;ENSP00000450665:L52V;ENSP00000451209:L52V;ENSP00000450747:L52V;ENSP00000450732:L52V	ENSP00000300134:L52V	L	-	1	2	STAT6	55787756	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	0.278000	0.18753	0.358000	0.24211	-1.065000	0.02276	TTG		0.592	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3		NM_003153	
TEX11	56159	hgsc.bcm.edu;ucsc.edu	37	X	69811638	69811638	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:69811638C>A	ENST00000395889.2	-	26	2303	c.2148G>T	c.(2146-2148)caG>caT	p.Q716H	TEX11_ENST00000374333.2_Missense_Mutation_p.Q701H|TEX11_ENST00000344304.3_Missense_Mutation_p.Q716H|TEX11_ENST00000374320.2_Missense_Mutation_p.Q391H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	716					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CATTGCATGTCTGGATCTCCT	0.378																																																	0													152.0	106.0	121.0					X																	69811638		2203	4300	6503	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2148G>T	X.37:g.69811638C>A	ENSP00000379226:p.Gln716His		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152135	0.06585	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.53206	1.24;1.25;0.63;1.25	3.71	-1.75	0.08031	.	0.841423	0.10644	N	0.650642	T	0.21921	0.0528	N	0.13003	0.285	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.16837	-1.0389	9	.	.	.	3.9922	1.7224	0.02915	0.2938:0.4269:0.1177:0.1615	.	701;716	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	H	701;716;391;716	ENSP00000363453:Q701H;ENSP00000379226:Q716H;ENSP00000363440:Q391H;ENSP00000340995:Q716H	.	Q	-	3	2	TEX11	69728363	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.102000	0.10956	-0.449000	0.07117	-1.158000	0.01797	CAG		0.378	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			
TMEM198	130612	hgsc.bcm.edu	37	2	220414019	220414019	+	Silent	SNP	T	T	C	rs13023533	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:220414019T>C	ENST00000344458.2	+	5	1473	c.888T>C	c.(886-888)ccT>ccC	p.P296P	TMEM198_ENST00000373883.3_Silent_p.P296P|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	296	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CACCAGACCCTGCTTATCGGC	0.622													T|||	1965	0.392372	0.4077	0.5231	5008	,	,		11770	0.38		0.4592	False		,,,				2504	0.2229																0								T		716,3690		295,126,1782	41.0	45.0	44.0		888	-1.4	1.0	2	dbSNP_121	44	1537,7063		640,257,3403	no	coding-synonymous	TMEM198	NM_001005209.1		935,383,5185	CC,CT,TT		17.8721,16.2506,17.3228		296/361	220414019	2253,10753	2203	4300	6503	SO:0001819	synonymous_variant	130612			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.888T>C	2.37:g.220414019T>C				Silent	SNP	ENST00000344458.2	37	CCDS33385.1																																																																																				0.622	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1		NM_001005209	
TXNL4A	10907	hgsc.bcm.edu	37	18	77733688	77733688	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr18:77733688G>T	ENST00000269601.5	-	3	626	c.426C>A	c.(424-426)taC>taA	p.Y142*	TXNL4A_ENST00000585474.1_Nonsense_Mutation_p.Y71*|TXNL4A_ENST00000592957.1_Nonsense_Mutation_p.Y71*|TXNL4A_ENST00000592837.1_Nonsense_Mutation_p.Y71*|TXNL4A_ENST00000588162.1_3'UTR	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	142					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		GGGCGCCTCAGTAGCGGTACT	0.552																																					Ovarian(160;2333 2597 11821 36245)												0													77.0	80.0	79.0					18																	77733688		2203	4300	6503	SO:0001587	stop_gained	10907			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"""similar to S. pombe dim1+"""	611595	"""thioredoxin-like 4"""	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.426C>A	18.37:g.77733688G>T	ENSP00000269601:p.Tyr142*		B2RC18|O14834	Nonsense_Mutation	SNP	ENST00000269601.5	37	CCDS32852.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349335	0.95830	.	.	ENSG00000141759	ENST00000269601	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0261	19.9113	0.97025	0.0:0.0:1.0:0.0	.	.	.	.	X	142	.	ENSP00000269601:Y142X	Y	-	3	2	TXNL4A	75834676	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.125000	0.50469	2.876000	0.98609	0.655000	0.94253	TAC		0.552	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451036.1		NM_006701	
UBE2A	7319	hgsc.bcm.edu;ucsc.edu	37	X	118716565	118716565	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:118716565A>G	ENST00000371558.2	+	5	430	c.256A>G	c.(256-258)Agt>Ggt	p.S86G	UBE2A_ENST00000371569.5_Missense_Mutation_p.S11G|UBE2A_ENST00000346330.3_Missense_Mutation_p.S56G	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	86					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						TGCAGATGGTAGTATATGTCT	0.353								Rad6 pathway																																									0													192.0	176.0	182.0					X																	118716565		2203	4300	6503	SO:0001583	missense	7319			AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.256A>G	X.37:g.118716565A>G	ENSP00000360613:p.Ser86Gly		A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Missense_Mutation	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078274	0.55753	.	.	ENSG00000077721	ENST00000371558;ENST00000346330;ENST00000371569	T;T;T	0.38401	1.14;1.14;1.14	5.74	5.74	0.90152	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	L	0.41824	1.3	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.04840	-1.0923	10	0.38643	T	0.18	-4.8775	14.1022	0.65065	1.0:0.0:0.0:0.0	.	56;86	A6NGR2;P49459	.;UBE2A_HUMAN	G	86;56;11	ENSP00000360613:S86G;ENSP00000335027:S56G;ENSP00000360624:S11G	ENSP00000335027:S56G	S	+	1	0	UBE2A	118600593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.329000	0.96413	1.928000	0.55862	0.481000	0.45027	AGT		0.353	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1		NM_003336	
VWA3A	146177	hgsc.bcm.edu	37	16	22122217	22122217	+	Silent	SNP	C	C	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr16:22122217C>T	ENST00000389398.5	+	8	687	c.591C>T	c.(589-591)atC>atT	p.I197I	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	197						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGAGCCTCATCGATGAGCAGC	0.607																																																	0													84.0	87.0	86.0					16																	22122217		2043	4198	6241	SO:0001819	synonymous_variant	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.591C>T	16.37:g.22122217C>T			A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	37	CCDS45441.1																																																																																				0.607	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			
WNT11	7481	hgsc.bcm.edu	37	11	75898207	75898207	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:75898207C>A	ENST00000322563.3	-	5	1091	c.967G>T	c.(967-969)Gac>Tac	p.D323Y		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	323					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						ACCACGCGGTCTGTGTAGGGG	0.602																																																	0													172.0	130.0	144.0					11																	75898207		2200	4292	6492	SO:0001583	missense	7481			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.967G>T	11.37:g.75898207C>A	ENSP00000325526:p.Asp323Tyr		B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469449	0.84533	.	.	ENSG00000085741	ENST00000322563	T	0.75589	-0.95	4.63	4.63	0.57726	.	0.049234	0.85682	D	0.000000	T	0.66577	0.2803	N	0.02802	-0.49	0.80722	D	1	D	0.56287	0.975	P	0.58077	0.832	T	0.72808	-0.4181	10	0.34782	T	0.22	.	17.3486	0.87316	0.0:1.0:0.0:0.0	.	323	O96014	WNT11_HUMAN	Y	323	ENSP00000325526:D323Y	ENSP00000325526:D323Y	D	-	1	0	WNT11	75575855	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	5.938000	0.70170	2.515000	0.84797	0.305000	0.20034	GAC		0.602	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1		NM_004626	
XPO1	7514	hgsc.bcm.edu;ucsc.edu	37	2	61706043	61706043	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:61706043C>G	ENST00000401558.2	-	25	3855	c.3128G>C	c.(3127-3129)cGg>cCg	p.R1043P	XPO1_ENST00000404992.2_Missense_Mutation_p.R1043P|XPO1_ENST00000406957.1_Missense_Mutation_p.R1043P|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1043					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATCAGCCTGCCGTAGGGCTAT	0.378			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													127.0	128.0	127.0					2																	61706043		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3128G>C	2.37:g.61706043C>G	ENSP00000384863:p.Arg1043Pro		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120863	0.56613	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.80746	2.51	0.80722	D	1	P;P	0.38767	0.506;0.646	B;B	0.35413	0.124;0.202	T	0.67757	-0.5588	9	0.34782	T	0.22	-10.7929	19.8731	0.96858	0.0:1.0:0.0:0.0	.	690;1043	B3KWD0;O14980	.;XPO1_HUMAN	P	1043	.	ENSP00000384863:R1043P	R	-	2	0	XPO1	61559547	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	7.784000	0.85713	2.690000	0.91761	0.655000	0.94253	CGG		0.378	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3		NM_003400	
ZNF225	7768	hgsc.bcm.edu;ucsc.edu	37	19	44636673	44636673	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:44636673G>T	ENST00000262894.6	+	5	2186	c.1906G>T	c.(1906-1908)Gcc>Tcc	p.A636S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.A636S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CTTCAGATGGGCCTCAACTCA	0.443																																																	0													55.0	56.0	55.0					19																	44636673		2179	4288	6467	SO:0001583	missense	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1906G>T	19.37:g.44636673G>T	ENSP00000262894:p.Ala636Ser		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	1.930	-0.446295	0.04604	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.05382	3.45	2.87	-1.22	0.09494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01353	0.0044	N	0.01128	-1	0.09310	N	1	B	0.21688	0.059	B	0.22152	0.038	T	0.41574	-0.9501	9	0.02654	T	1	.	0.4803	0.00547	0.3798:0.1803:0.2624:0.1775	.	636	Q9UK10	ZN225_HUMAN	S	636;600	ENSP00000262894:A636S	ENSP00000262894:A636S	A	+	1	0	ZNF225	49328513	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	-2.154000	0.01285	-0.526000	0.06383	0.561000	0.74099	GCC		0.443	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			
ZNF619	285267	hgsc.bcm.edu;ucsc.edu	37	3	40529519	40529519	+	Silent	SNP	C	C	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr3:40529519C>G	ENST00000314686.5	+	6	1875	c.1470C>G	c.(1468-1470)ccC>ccG	p.P490P	ZNF619_ENST00000432264.2_Silent_p.P506P|ZNF619_ENST00000521353.1_Silent_p.P546P|ZNF619_ENST00000429348.2_Silent_p.P506P|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000447116.2_Silent_p.P546P|ZNF619_ENST00000456778.1_Silent_p.P462P|ZNF619_ENST00000522736.1_Silent_p.P497P			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	490					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)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTCTGCCTCCCCAACATACCT	0.547																																																	0													154.0	105.0	122.0					3																	40529519		2203	4300	6503	SO:0001819	synonymous_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1470C>G	3.37:g.40529519C>G			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37																																																																																					0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2		NM_173656	
KDM5C	8242	ucsc.edu	37	X	53224160	53224160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	C	-	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:53224160delC	ENST00000375401.3	-	22	3923	c.3391delG	c.(3391-3393)gagfs	p.E1131fs	KDM5C_ENST00000404049.3_Frame_Shift_Del_p.E1130fs|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.E1064fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.E1090fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.E1131fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1131					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCAGCAGCTCTGTGTCAGAT	0.597			"""N, F, S"""		clear cell renal carcinoma																																	.		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													73.0	54.0	61.0					X																	53224160		2203	4300	6503	SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3391delG	X.37:g.53224160delC	ENSP00000364550:p.Glu1131fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.597	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
