#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
ACOXL	55289	hgsc.bcm.edu;ucsc.edu	37	2	111753532	111753532	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:111753532T>A	ENST00000389811.4	+	15	1546	c.1322T>A	c.(1321-1323)tTt>tAt	p.F441Y	ACOXL_ENST00000439055.1_Missense_Mutation_p.F411Y			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	441					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCAGTGAAATTTCGTGAAAGG	0.373																																																	0													150.0	166.0	161.0					2																	111753532		2203	4300	6503	SO:0001583	missense	55289				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1322T>A	2.37:g.111753532T>A	ENSP00000374461:p.Phe441Tyr		A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37		.	.	.	.	.	.	.	.	.	.	T	1.315	-0.600987	0.03744	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074;ENST00000441974	T;T;T;T	0.40756	1.02;1.02;1.02;1.05	4.71	3.55	0.40652	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.235838	0.36628	N	0.002498	T	0.23649	0.0572	N	0.13003	0.285	0.80722	D	1	B;B;B	0.34264	0.446;0.392;0.001	B;B;B	0.40165	0.321;0.215;0.006	T	0.10870	-1.0611	10	0.02654	T	1	-24.162	8.5625	0.33520	0.0:0.0924:0.0:0.9076	.	411;411;441	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	Y	441;411;262;249;28	ENSP00000374461:F441Y;ENSP00000407761:F411Y;ENSP00000387832:F249Y;ENSP00000393823:F28Y	ENSP00000374461:F441Y	F	+	2	0	ACOXL	111470003	1.000000	0.71417	0.881000	0.34555	0.475000	0.33008	1.807000	0.38902	0.934000	0.37316	0.459000	0.35465	TTT		0.373	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2		NM_018308	
ACSS1	84532	hgsc.bcm.edu	37	20	25003643	25003643	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:25003643G>A	ENST00000323482.4	-	5	972	c.893C>T	c.(892-894)aCc>aTc	p.T298I	ACSS1_ENST00000542618.1_Missense_Mutation_p.T177I|ACSS1_ENST00000432802.2_Missense_Mutation_p.T298I|ACSS1_ENST00000537502.1_Missense_Mutation_p.T215I	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	298					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCATTCCGGTGCTCCCTGA	0.617																																																	0													80.0	60.0	67.0					20																	25003643		2203	4300	6503	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.893C>T	20.37:g.25003643G>A	ENSP00000316924:p.Thr298Ile		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703649	0.68501	.	.	ENSG00000154930	ENST00000323482;ENST00000537502;ENST00000432802;ENST00000542618	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.57	5.57	0.84162	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.95903	0.8917	10	0.87932	D	0	-31.9452	18.1312	0.89602	0.0:0.0:1.0:0.0	.	298;298;215	Q9NUB1-2;Q9NUB1;Q6ZV30	.;ACS2L_HUMAN;.	I	298;215;298;177	ENSP00000316924:T298I;ENSP00000439304:T215I;ENSP00000388793:T298I;ENSP00000437657:T177I	ENSP00000316924:T298I	T	-	2	0	ACSS1	24951643	1.000000	0.71417	0.966000	0.40874	0.197000	0.23852	9.361000	0.97122	2.642000	0.89623	0.462000	0.41574	ACC		0.617	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2		NM_032501	
ALPK2	115701	hgsc.bcm.edu;ucsc.edu	37	18	56246200	56246200	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr18:56246200G>A	ENST00000361673.3	-	4	2021	c.1808C>T	c.(1807-1809)gCt>gTt	p.A603V	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	603						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTTGAAATAGCACATTCTCT	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													170.0	150.0	157.0					18																	56246200		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1808C>T	18.37:g.56246200G>A	ENSP00000354991:p.Ala603Val	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324601	0.60634	.	.	ENSG00000198796	ENST00000361673	T	0.53423	0.62	5.28	-3.11	0.05299	.	1.982170	0.02667	N	0.108185	T	0.37100	0.0991	L	0.58101	1.795	0.09310	N	1	B	0.27997	0.197	B	0.28638	0.092	T	0.04915	-1.0918	10	0.18276	T	0.48	1.1618	0.4214	0.00456	0.2307:0.244:0.276:0.2493	.	603	Q86TB3	ALPK2_HUMAN	V	603	ENSP00000354991:A603V	ENSP00000354991:A603V	A	-	2	0	ALPK2	54397180	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.300000	0.19156	-0.607000	0.05738	-0.150000	0.13652	GCT		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1		NM_052947	
APPL2	55198	hgsc.bcm.edu;ucsc.edu	37	12	105583814	105583814	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:105583814A>C	ENST00000258530.3	-	15	1586	c.1361T>G	c.(1360-1362)aTt>aGt	p.I454S	APPL2_ENST00000551662.1_Missense_Mutation_p.I460S|APPL2_ENST00000539978.2_Missense_Mutation_p.I411S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGGAAGCACAATATCGAATTG	0.458																																																	0													119.0	112.0	114.0					12																	105583814		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1361T>G	12.37:g.105583814A>C	ENSP00000258530:p.Ile454Ser		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618530	0.87359	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T	0.28069	2.44;1.63;2.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.99	T	0.58103	-0.7695	10	0.56958	D	0.05	-24.7543	15.9051	0.79423	1.0:0.0:0.0:0.0	.	460;411;454	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	S	454;411;460;2	ENSP00000258530:I454S;ENSP00000444472:I411S;ENSP00000446917:I460S	ENSP00000258530:I454S	I	-	2	0	APPL2	104107944	1.000000	0.71417	0.922000	0.36590	0.932000	0.56968	9.078000	0.94023	2.151000	0.67156	0.456000	0.33151	ATT		0.458	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3		NM_018171	
BRD7	29117	hgsc.bcm.edu;ucsc.edu	37	16	50373909	50373909	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr16:50373909G>A	ENST00000394688.3	-	6	839	c.680C>T	c.(679-681)tCa>tTa	p.S227L	BRD7_ENST00000394689.2_Missense_Mutation_p.S227L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	227					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTTCATTCCTGAGTGCAACAG	0.333																																																	0													113.0	114.0	114.0					16																	50373909		2198	4298	6496	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.680C>T	16.37:g.50373909G>A	ENSP00000378180:p.Ser227Leu		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465162	0.96257	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.16196	2.36;2.36	5.31	5.31	0.75309	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.66497	0.881;0.944	T	0.07751	-1.0756	10	0.21540	T	0.41	-8.4496	18.9611	0.92678	0.0:0.0:1.0:0.0	.	227;227	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	L	227	ENSP00000378180:S227L;ENSP00000378181:S227L	ENSP00000378180:S227L	S	-	2	0	BRD7	48931410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.496000	0.84212	0.591000	0.81541	TCA		0.333	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263	
BTAF1	9044	hgsc.bcm.edu;ucsc.edu	37	10	93699745	93699745	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr10:93699745C>T	ENST00000265990.6	+	3	483	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	59					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGGGATACCCGGATTGCAGC	0.378																																																	0													66.0	68.0	67.0					10																	93699745		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.175C>T	10.37:g.93699745C>T	ENSP00000265990:p.Arg59Trp		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248679	0.95305	.	.	ENSG00000095564	ENST00000265990	T	0.74842	-0.88	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89801	0.6820	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91330	0.5089	10	0.87932	D	0	-14.2483	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	O14981	BTAF1_HUMAN	W	59	ENSP00000265990:R59W	ENSP00000265990:R59W	R	+	1	2	BTAF1	93689725	1.000000	0.71417	0.976000	0.42696	0.940000	0.58332	7.678000	0.84035	2.709000	0.92574	0.655000	0.94253	CGG		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972	
C19orf54	284325	hgsc.bcm.edu	37	19	41250530	41250530	+	Missense_Mutation	SNP	G	G	A	rs199634087		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr19:41250530G>A	ENST00000378313.2	-	3	570	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000339153.3_Missense_Mutation_p.P20L|C19orf54_ENST00000598729.1_Missense_Mutation_p.P20L|C19orf54_ENST00000470681.1_Missense_Mutation_p.P13S|C19orf54_ENST00000598485.2_Missense_Mutation_p.P20L	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	151										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCTCCAGGGGGACGCCACTG	0.612																																																	0								G	SER/PRO	0,4406		0,0,2203	67.0	54.0	59.0		451	4.6	0.8	19		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	C19orf54	NM_198476.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	151/352	41250530	1,13005	2203	4300	6503	SO:0001583	missense	284325			AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.451C>T	19.37:g.41250530G>A	ENSP00000367564:p.Pro151Ser		A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	CCDS12564.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	7.031|7.031	0.560550|0.560550	0.13498|0.13498	0.0|0.0	1.16E-4|1.16E-4	ENSG00000188493|ENSG00000188493	ENST00000339153|ENST00000378313	.|.	.|.	.|.	5.83|5.83	4.57|4.57	0.56435|0.56435	.|.	1.444980|1.444980	0.04033|0.04033	N|N	0.301831|0.301831	T|T	0.20170|0.20170	0.0485|0.0485	N|N	0.04994|0.04994	-0.135|-0.135	0.26804|0.26804	N|N	0.969145|0.969145	B|P;B	0.09022|0.45715	0.002|0.865;0.041	B|P;B	0.08055|0.46585	0.003|0.521;0.022	T|T	0.18116|0.18116	-1.0347|-1.0347	9|9	0.02654|0.02654	T|T	1|1	-8.7314|-8.7314	9.0082|9.0082	0.36124|0.36124	0.2118:0.0:0.7882:0.0|0.2118:0.0:0.7882:0.0	.|.	20|13;151	Q5BKX5-3|Q6ZWG5;Q5BKX5	.|.;CS054_HUMAN	L|S	20|151	.|.	ENSP00000341122:P20L|ENSP00000367564:P151S	P|P	-|-	2|1	0|0	C19orf54|C19orf54	45942370|45942370	0.995000|0.995000	0.38212|0.38212	0.753000|0.753000	0.31225|0.31225	0.623000|0.623000	0.37688|0.37688	2.471000|2.471000	0.45127|0.45127	1.134000|1.134000	0.42165|0.42165	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.612	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1		NM_198476	
C1orf85	112770	hgsc.bcm.edu	37	1	156264685	156264685	+	Silent	SNP	T	T	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr1:156264685T>G	ENST00000362007.1	-	2	269	c.243A>C	c.(241-243)gtA>gtC	p.V81V	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	81					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGGCCACCATTACCACTGCCA	0.622																																																	0													76.0	82.0	80.0					1																	156264685		2203	4300	6503	SO:0001819	synonymous_variant	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.243A>C	1.37:g.156264685T>G			A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	CCDS1139.1																																																																																				0.622	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1		NM_144580	
CARD11	84433	hgsc.bcm.edu	37	7	2949758	2949758	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:2949758T>A	ENST00000396946.4	-	24	3589	c.3186A>T	c.(3184-3186)agA>agT	p.R1062S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1062	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGATCAAGTCTCTTGTGCAGC	0.587			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													159.0	136.0	144.0					7																	2949758		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3186A>T	7.37:g.2949758T>A	ENSP00000380150:p.Arg1062Ser		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	9.717	1.158580	0.21454	.	.	ENSG00000198286	ENST00000396946	T	0.29917	1.55	4.6	-4.07	0.03975	.	0.159403	0.37437	N	0.002086	T	0.16854	0.0405	L	0.29908	0.895	0.25434	N	0.988151	B	0.09022	0.002	B	0.10450	0.005	T	0.08513	-1.0718	10	0.62326	D	0.03	-2.8488	7.0107	0.24861	0.0:0.4786:0.3032:0.2182	.	1062	Q9BXL7	CAR11_HUMAN	S	1062	ENSP00000380150:R1062S	ENSP00000380150:R1062S	R	-	3	2	CARD11	2916284	0.154000	0.22792	0.056000	0.19401	0.079000	0.17450	-0.678000	0.05209	-0.830000	0.04262	-0.256000	0.11100	AGA		0.587	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415	
CBLL1	79872	hgsc.bcm.edu	37	7	107393904	107393904	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:107393904A>G	ENST00000440859.3	+	3	697	c.230A>G	c.(229-231)gAg>gGg	p.E77G	CBLL1_ENST00000415884.2_Missense_Mutation_p.E77G|CBLL1_ENST00000222597.2_Missense_Mutation_p.E76G	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	77					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAAGGGGGTGAGCTGTTTGCA	0.299																																																	0													67.0	75.0	72.0					7																	107393904		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.230A>G	7.37:g.107393904A>G	ENSP00000401277:p.Glu77Gly		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763105	0.49574	.	.	ENSG00000105879	ENST00000440859;ENST00000222597;ENST00000420796;ENST00000415884;ENST00000417616	T;T;T	0.36340	1.31;1.26;1.33	5.67	5.67	0.87782	.	0.263957	0.37715	N	0.001963	T	0.33089	0.0851	L	0.34521	1.04	0.51233	D	0.999916	B;B	0.32245	0.361;0.361	B;B	0.34652	0.187;0.187	T	0.14615	-1.0466	10	0.59425	D	0.04	-2.3153	15.9124	0.79482	1.0:0.0:0.0:0.0	.	76;77	B7ZM03;Q75N03	.;HAKAI_HUMAN	G	77;76;27;27;23	ENSP00000401277:E77G;ENSP00000222597:E76G;ENSP00000410615:E27G	ENSP00000222597:E76G	E	+	2	0	CBLL1	107181140	1.000000	0.71417	0.330000	0.25442	0.311000	0.27955	8.502000	0.90505	2.164000	0.68074	0.460000	0.39030	GAG		0.299	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2		NM_024814	
CD177	57126	hgsc.bcm.edu	37	19	43857873	43857873	+	RNA	SNP	G	G	C	rs45441892	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr19:43857873G>C	ENST00000607517.1	+	0	63				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GGTCATGAGCGCGGTATTACT	0.577													C|||	2302	0.459665	0.3147	0.4726	5008	,	,		16037	0.7173		0.3519	False		,,,				2504	0.4918																0								C	PRO/ALA	1150,2668		190,770,949	81.0	79.0	80.0		7	-3.7	0.0	19	dbSNP_127	80	2835,5397		479,1877,1760	yes	missense	CD177	NM_020406.2	27	669,2647,2709	CC,CG,GG		34.4388,30.1205,33.0705	benign	3/438	43857873	3985,8065	1909	4116	6025			57126			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43857873G>C			Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Missense_Mutation	SNP	ENST00000607517.1	37		985	0.451007326007326	168	0.34146341463414637	163	0.45027624309392267	392	0.6853146853146853	262	0.34564643799472294	c	0.073	-1.197988	0.01594	0.301205	0.344388	ENSG00000204936	ENST00000378009;ENST00000378012;ENST00000457794	T;T;T	0.14640	3.07;2.49;2.49	3.42	-3.7	0.04437	.	.	.	.	.	T	0.00012	0.0000	N	0.00092	-2.175	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	8	0.02654	T	1	.	4.7527	0.13068	0.0:0.2645:0.2979:0.4376	rs45441892;rs62113734	3	Q8N6Q3	CD177_HUMAN	P	3	ENSP00000367248:A3P;ENSP00000367251:A3P;ENSP00000388794:A3P	ENSP00000367248:A3P	A	+	1	0	CD177	48549713	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.873000	0.01637	-0.973000	0.03555	-1.086000	0.02197	GCG		0.577	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1		NM_020406	
CENPH	64946	hgsc.bcm.edu;ucsc.edu	37	5	68504122	68504122	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr5:68504122A>G	ENST00000283006.2	+	8	674	c.587A>G	c.(586-588)aAg>aGg	p.K196R	CENPH_ENST00000515001.1_Missense_Mutation_p.K177R	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		GAGAGGATAAAGATCATACGA	0.308																																																	0													99.0	106.0	103.0					5																	68504122		2203	4300	6503	SO:0001583	missense	64946			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.587A>G	5.37:g.68504122A>G	ENSP00000283006:p.Lys196Arg			Missense_Mutation	SNP	ENST00000283006.2	37	CCDS3998.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.710271	0.30322	.	.	ENSG00000153044	ENST00000283006;ENST00000515001	.	.	.	5.2	2.82	0.32997	.	0.173429	0.49916	D	0.000127	T	0.52709	0.1751	M	0.61703	1.905	0.26266	N	0.9785	D;D	0.71674	0.99;0.998	D;D	0.69824	0.921;0.966	T	0.40608	-0.9554	9	0.66056	D	0.02	-18.654	3.9929	0.09545	0.7216:0.0:0.095:0.1834	.	177;196	B3KVZ3;Q9H3R5	.;CENPH_HUMAN	R	196;177	.	ENSP00000283006:K196R	K	+	2	0	CENPH	68539878	0.992000	0.36948	0.654000	0.29608	0.036000	0.12997	2.492000	0.45311	1.057000	0.40506	0.533000	0.62120	AAG		0.308	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1			
CHD6	84181	hgsc.bcm.edu;ucsc.edu	37	20	40116335	40116335	+	Silent	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:40116335C>T	ENST00000373233.3	-	14	2148	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	657	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCCAAATTCCTCCAAGAAAG	0.443																																																	0													101.0	104.0	103.0					20																	40116335		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1971G>A	20.37:g.40116335C>T			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.443	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			
CLLU1OS	574016	hgsc.bcm.edu	37	12	92816354	92816354	+	Silent	SNP	T	T	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:92816354T>G	ENST00000378487.2	-	2	112	c.111A>C	c.(109-111)gcA>gcC	p.A37A	CLLU1OS_ENST00000538965.1_Silent_p.A37A|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000472839.2_Intron|CLLU1_ENST00000378485.1_5'Flank	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	37										large_intestine(1)|lung(7)	8						gggccccaagtgcagggccat	0.398																																																	0													60.0	61.0	61.0					12																	92816354		2203	4298	6501	SO:0001819	synonymous_variant	574016			AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"""chronic lymphocytic leukemia up-regulated 1 overlapping strand"""				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.111A>C	12.37:g.92816354T>G				Silent	SNP	ENST00000378487.2	37	CCDS31871.1																																																																																				0.398	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			
COPB1	1315	hgsc.bcm.edu;ucsc.edu	37	11	14487933	14487933	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:14487933C>T	ENST00000249923.3	-	17	2485	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	COPB1_ENST00000439561.2_Missense_Mutation_p.E729K	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	729					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACGTAAGCTTCTGCATATACA	0.378																																																	0													173.0	156.0	162.0					11																	14487933		2200	4294	6494	SO:0001583	missense	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2185G>A	11.37:g.14487933C>T	ENSP00000249923:p.Glu729Lys		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622535	0.96660	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	D;D	0.81996	-1.56;-1.56	5.48	5.48	0.80851	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94417	0.8204	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95829	0.8856	10	0.87932	D	0	.	19.3415	0.94344	0.0:1.0:0.0:0.0	.	729	P53618	COPB_HUMAN	K	729	ENSP00000249923:E729K;ENSP00000397873:E729K	ENSP00000249923:E729K	E	-	1	0	COPB1	14444509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.576000	0.86940	0.655000	0.94253	GAA		0.378	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1		NM_016451	
COPB1	1315	hgsc.bcm.edu;ucsc.edu	37	11	14487935	14487935	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:14487935G>T	ENST00000249923.3	-	17	2483	c.2183C>A	c.(2182-2184)gCa>gAa	p.A728E	COPB1_ENST00000439561.2_Missense_Mutation_p.A728E	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	728					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTAAGCTTCTGCATATACAGG	0.383																																																	0													165.0	148.0	154.0					11																	14487935		2200	4294	6494	SO:0001583	missense	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2183C>A	11.37:g.14487935G>T	ENSP00000249923:p.Ala728Glu		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177613	0.94846	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	H	0.95079	3.62	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.87179	0.2226	10	0.87932	D	0	.	19.3415	0.94344	0.0:0.0:1.0:0.0	.	728	P53618	COPB_HUMAN	E	728	ENSP00000249923:A728E;ENSP00000397873:A728E	ENSP00000249923:A728E	A	-	2	0	COPB1	14444511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.576000	0.86940	0.655000	0.94253	GCA		0.383	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1		NM_016451	
DNAJC7	7266	hgsc.bcm.edu;ucsc.edu	37	17	40148372	40148372	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:40148372C>T	ENST00000457167.4	-	4	598	c.362G>A	c.(361-363)aGa>aAa	p.R121K	DNAJC7_ENST00000316603.7_Missense_Mutation_p.R65K|DNAJC7_ENST00000426588.3_Missense_Mutation_p.R65K	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	121					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TTCTAGGGCTCTCTGGAAGCT	0.488																																					Colon(63;618 1117 8600 10857 19751)												0													91.0	85.0	87.0					17																	40148372		1908	4138	6046	SO:0001583	missense	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.362G>A	17.37:g.40148372C>T	ENSP00000406463:p.Arg121Lys		Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	C	7.099	0.573657	0.13623	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.73363	1.45;-0.74;-0.74	5.47	3.11	0.35812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.314639	0.40469	N	0.001081	T	0.38427	0.1040	N	0.01352	-0.895	0.41952	D	0.990669	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.45600	-0.9250	10	0.02654	T	1	-5.7302	8.8846	0.35396	0.0:0.7276:0.0:0.2724	.	110;65;121	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	K	121;65;65	ENSP00000406463:R121K;ENSP00000394327:R65K;ENSP00000313311:R65K	ENSP00000313311:R65K	R	-	2	0	DNAJC7	37401898	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.476000	0.35420	1.438000	0.47492	0.655000	0.94253	AGA		0.488	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			
DPY19L3	147991	hgsc.bcm.edu	37	19	32949399	32949399	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr19:32949399G>C	ENST00000342179.5	+	12	1521	c.1306G>C	c.(1306-1308)Gcc>Ccc	p.A436P	DPY19L3_ENST00000586987.1_Missense_Mutation_p.A436P|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.A436P	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	436						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATTCGTTGTTGCCTTTCATAA	0.358																																																	0													198.0	197.0	197.0					19																	32949399		2203	4300	6503	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1306G>C	19.37:g.32949399G>C	ENSP00000344937:p.Ala436Pro		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951389	0.53186	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.56103	0.48;0.48	6.04	6.04	0.98038	.	0.051703	0.85682	D	0.000000	T	0.62183	0.2407	M	0.62723	1.935	0.44055	D	0.996795	D	0.56287	0.975	P	0.54965	0.765	T	0.56774	-0.7923	10	0.28530	T	0.3	-9.2336	13.7888	0.63126	0.0696:0.0:0.9304:0.0	.	436	Q6ZPD9	D19L3_HUMAN	P	436	ENSP00000376081:A436P;ENSP00000344937:A436P	ENSP00000315672:A436P	A	+	1	0	DPY19L3	37641239	1.000000	0.71417	0.973000	0.42090	0.396000	0.30629	4.959000	0.63666	2.881000	0.98747	0.650000	0.86243	GCC		0.358	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1		NM_207325	
ERBB2IP	55914	hgsc.bcm.edu;ucsc.edu	37	5	65350608	65350608	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr5:65350608G>C	ENST00000284037.5	+	21	3851	c.3462G>C	c.(3460-3462)gaG>gaC	p.E1154D	ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E1150D	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1154					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAATACCAGAGAGAACTATGT	0.423																																																	0													63.0	60.0	61.0					5																	65350608		2203	4300	6503	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3462G>C	5.37:g.65350608G>C	ENSP00000284037:p.Glu1154Asp		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.556399|2.556399	0.45487|0.45487	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|T	0.72615|0.58506	-0.56;-0.67;-0.65;-0.29;0.59;-0.26;-0.66;-0.51;0.59|0.33	5.57|5.57	2.4|2.4	0.29515|0.29515	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59810|0.59810	0.2221|0.2221	L|L	0.47190|0.47190	1.495|1.495	0.50632|0.50632	D|D	0.999885|0.999885	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.998;0.997;0.992;0.997;0.999;0.998|.	D;D;D;D;D;D;D|.	0.87578|.	0.998;0.99;0.992;0.986;0.978;0.958;0.994|.	T|T	0.62530|0.62530	-0.6835|-0.6835	10|8	0.66056|0.87932	D|D	0.02|0	.|.	11.238|11.238	0.48953|0.48953	0.2956:0.0:0.7044:0.0|0.2956:0.0:0.7044:0.0	.|.	1154;1154;1154;1150;1154;1154;1154|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	D|Q	1154;1154;1154;1154;1154;1154;1150;1154;1154|50	ENSP00000284037:E1154D;ENSP00000370330:E1154D;ENSP00000370326:E1154D;ENSP00000370323:E1154D;ENSP00000370322:E1154D;ENSP00000370325:E1154D;ENSP00000422766:E1150D;ENSP00000426632:E1154D;ENSP00000422015:E1154D|ENSP00000425728:E50Q	ENSP00000284037:E1154D|ENSP00000425728:E50Q	E|E	+|+	3|1	2|0	ERBB2IP|ERBB2IP	65386364|65386364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.895000|0.895000	0.28363|0.28363	0.729000|0.729000	0.32403|0.32403	-0.142000|-0.142000	0.14014|0.14014	GAG|GAG		0.423	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695	
FAM135A	57579	hgsc.bcm.edu	37	6	71185160	71185160	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr6:71185160A>G	ENST00000418814.2	+	6	819	c.205A>G	c.(205-207)Agt>Ggt	p.S69G	FAM135A_ENST00000370479.3_Splice_Site|FAM135A_ENST00000505769.1_Missense_Mutation_p.S69G|FAM135A_ENST00000361499.3_Missense_Mutation_p.S69G|FAM135A_ENST00000457062.2_Splice_Site|FAM135A_ENST00000505868.1_Missense_Mutation_p.S69G	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	69										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCTAATTTGCAGTAAAACATT	0.284																																																	0													43.0	45.0	44.0					6																	71185160		2195	4271	6466	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.205A>G	6.37:g.71185160A>G	ENSP00000410768:p.Ser69Gly		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.365224|4.365224	0.82463|0.82463	.|.	.|.	ENSG00000082269|ENSG00000082269	ENST00000370479;ENST00000457062|ENST00000418814;ENST00000505769;ENST00000515323;ENST00000361499;ENST00000505868	.|T;T;T;T;T	.|0.79352	.|-1.26;-1.26;-1.26;-1.26;-1.26	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.86961	.|0.6059	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;0.998	.|D;D;D	.|0.87578	.|0.998;0.985;0.994	.|D	.|0.88022	.|0.2769	.|10	.|0.49607	.|T	.|0.09	.|.	15.7723|15.7723	0.78180|0.78180	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|69;69;69	.|D6RC17;Q9P2D6;Q9P2D6-2	.|.;F135A_HUMAN;.	.|G	-1|69	.|ENSP00000410768:S69G;ENSP00000423785:S69G;ENSP00000422406:S69G;ENSP00000354913:S69G;ENSP00000423307:S69G	.|ENSP00000194672:S69G	.|S	+|+	.|1	.|0	FAM135A|FAM135A	71241881|71241881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.287000|9.287000	0.95975|0.95975	2.195000|2.195000	0.70347|0.70347	0.528000|0.528000	0.53228|0.53228	.|AGT		0.284	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2		NM_020819	
FITM2	128486	hgsc.bcm.edu;ucsc.edu	37	20	42935614	42935614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:42935614C>T	ENST00000396825.3	-	2	460	c.440G>A	c.(439-441)tGg>tAg	p.W147*		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	147					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						AAAGCCATGCCAAAAGCCCCC	0.567																																																	0													124.0	89.0	101.0					20																	42935614		2203	4300	6503	SO:0001587	stop_gained	128486			BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.440G>A	20.37:g.42935614C>T	ENSP00000380037:p.Trp147*		A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Nonsense_Mutation	SNP	ENST00000396825.3	37	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531516	0.96446	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8405	0.96681	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	ENSP00000380037:W147X	W	-	2	0	FITM2	42369028	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.398000	0.79919	2.671000	0.90904	0.655000	0.94253	TGG		0.567	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2		XM_371399	
FNBP1	23048	hgsc.bcm.edu;ucsc.edu	37	9	132757177	132757177	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr9:132757177T>C	ENST00000446176.2	-	2	271	c.85A>G	c.(85-87)Atc>Gtc	p.I29V	FNBP1_ENST00000420781.1_Missense_Mutation_p.I29V|FNBP1_ENST00000355681.3_Missense_Mutation_p.I29V	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	29	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ACAAACTTGATATATTTCTCA	0.348			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													228.0	222.0	224.0					9																	132757177		1825	4077	5902	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.85A>G	9.37:g.132757177T>C	ENSP00000413625:p.Ile29Val		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	T	0.599	-0.829753	0.02734	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.17370	2.28;2.28;2.28	5.55	5.55	0.83447	Fps/Fes/Fer/CIP4 homology (3);	0.046907	0.85682	D	0.000000	T	0.09113	0.0225	N	0.02916	-0.46	0.80722	D	1	B;B;B;B;B	0.20780	0.002;0.048;0.0;0.0;0.04	B;B;B;B;B	0.30179	0.02;0.112;0.009;0.003;0.077	T	0.35151	-0.9800	10	0.17832	T	0.49	-19.8242	14.8746	0.70485	0.0:0.0:0.0:1.0	.	29;29;29;29;29	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q96RU3	.;.;.;.;FNBP1_HUMAN	V	29	ENSP00000413625:I29V;ENSP00000407548:I29V;ENSP00000347907:I29V	ENSP00000347907:I29V	I	-	1	0	FNBP1	131796998	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	2.243000	0.43115	2.098000	0.63641	0.460000	0.39030	ATC		0.348	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			
FOXD1	2297	hgsc.bcm.edu	37	5	72743761	72743761	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr5:72743761T>A	ENST00000499003.3	-	1	591	c.427A>T	c.(427-429)Aag>Tag	p.K143*	FOXD1_ENST00000513595.1_5'Flank|RP11-79P5.2_ENST00000514661.1_lincRNA	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	143					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		AGCCGCTTCTTGGGGCTCTGC	0.647																																																	0													31.0	41.0	38.0					5																	72743761		2203	4300	6503	SO:0001587	stop_gained	2297			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"""Forkhead boxes"""	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.427A>T	5.37:g.72743761T>A	ENSP00000462795:p.Lys143*		Q12949	Nonsense_Mutation	SNP	ENST00000499003.3	37																																																																																					0.647	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2		NM_004472	
GLRA1	2741	hgsc.bcm.edu	37	5	151208500	151208500	+	Silent	SNP	C	C	T	rs75463357	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr5:151208500C>T	ENST00000455880.2	-	8	1327	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	GLRA1_ENST00000274576.4_Silent_p.R347R|GLRA1_ENST00000545569.1_Silent_p.R264R			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	347					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCTCCGCTTCCTCCTGAATC	0.468													C|||	42	0.00838658	0.0008	0.0159	5008	,	,		21283	0.0		0.0258	False		,,,				2504	0.0041																0								C	,	23,4383	30.8+/-60.4	0,23,2180	172.0	167.0	169.0		1041,1041	4.2	1.0	5	dbSNP_132	169	209,8391	89.2+/-151.4	5,199,4096	no	coding-synonymous,coding-synonymous	GLRA1	NM_000171.3,NM_001146040.1	,	5,222,6276	TT,TC,CC		2.4302,0.522,1.7838	,	347/450,347/458	151208500	232,12774	2203	4300	6503	SO:0001819	synonymous_variant	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1041G>A	5.37:g.151208500C>T			B2R6T3|Q14C77|Q6DJV9	Silent	SNP	ENST00000455880.2	37	CCDS54942.1																																																																																				0.468	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			
GLS2	27165	hgsc.bcm.edu	37	12	56865905	56865905	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:56865905T>G	ENST00000311966.4	-	16	1864	c.1586A>C	c.(1585-1587)gAa>gCa	p.E529A	MIP_ENST00000555551.1_5'Flank|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	529					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TTCAGTACCTTCAGCTGCAGC	0.478																																																	0													141.0	134.0	136.0					12																	56865905		2203	4300	6503	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1586A>C	12.37:g.56865905T>G	ENSP00000310447:p.Glu529Ala		B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.955069	0.92726	.	.	ENSG00000135423	ENST00000311966	T	0.32753	1.44	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.046667	0.85682	D	0.000000	T	0.44095	0.1277	L	0.42686	1.345	0.80722	D	1	P	0.46952	0.887	P	0.59221	0.854	T	0.36212	-0.9757	10	0.62326	D	0.03	-36.3841	14.0932	0.65004	0.0:0.0:0.0:1.0	.	529	Q9UI32	GLSL_HUMAN	A	529	ENSP00000310447:E529A	ENSP00000310447:E529A	E	-	2	0	GLS2	55152172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.819000	0.69243	2.112000	0.64535	0.533000	0.62120	GAA		0.478	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1		NM_013267	
GOSR2	9570	hgsc.bcm.edu;ucsc.edu	37	17	45006907	45006907	+	Silent	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:45006907T>C	ENST00000393456.2	+	2	108	c.51T>C	c.(49-51)tcT>tcC	p.S17S	GOSR2_ENST00000415811.2_Silent_p.S17S|GOSR2_ENST00000225567.4_Silent_p.S17S|GOSR2_ENST00000576910.2_Silent_p.S17S|RP11-156P1.2_ENST00000571841.1_Silent_p.S17S|GOSR2_ENST00000439730.2_Silent_p.S17S|GOSR2_ENST00000575949.1_Silent_p.S17S	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	17					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			AGATCCAGTCTTGCATGGGAC	0.493																																																	0													100.0	84.0	89.0					17																	45006907		2203	4300	6503	SO:0001819	synonymous_variant	9570			AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.51T>C	17.37:g.45006907T>C			D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Silent	SNP	ENST00000393456.2	37	CCDS42355.1																																																																																				0.493	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			
HLA-DQB1	3119	hgsc.bcm.edu	37	6	32629891	32629891	+	Missense_Mutation	SNP	C	C	T	rs386699585|rs1063323	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr6:32629891C>T	ENST00000399082.3	-	2	288	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.A172T|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.A172T|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.A172T|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.A172T|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1-AS1_ENST00000419852.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	172	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	ACAACGCCGGCTGTCTCCTCC	0.547									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	1979	0.395168	0.3154	0.5447	5008	,	,		15401	0.4782		0.3946	False		,,,				2504	0.3119				Esophageal Squamous(151;720 1825 15000 40336 43415)												0								T	THR/ALA	1264,3120		198,868,1126	45.0	47.0	47.0		514	1.8	0.0	6	dbSNP_86	47	3012,5578		578,1856,1861	no	missense	HLA-DQB1	NM_002123.4	58	776,2724,2987	TT,TC,CC		35.064,28.8321,32.9582	benign	172/262	32629891	4276,8698	2192	4295	6487	SO:0001583	missense	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.244G>A	6.37:g.32629891C>T	ENSP00000382032:p.Ala82Thr		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37		927	0.42445054945054944	152	0.3089430894308943	189	0.5220994475138122	281	0.49125874125874125	305	0.4023746701846966	.	0.892	-0.725235	0.03158	0.288321	0.35064	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15	4.52	1.78	0.24846	.	0.459394	0.20863	N	0.084310	T	0.00815	0.0027	.	.	.	0.80722	P	0.0	B;B;B;B	0.13594	0.002;0.001;0.008;0.0	B;B;B;B	0.12837	0.003;0.003;0.008;0.003	T	0.48969	-0.8987	8	0.31617	T	0.26	.	8.6058	0.33773	0.0:0.7426:0.0:0.2574	rs1063323;rs3204390;rs9280014;rs17840143;rs28724256;rs34109183	172;137;172;172	A2AAZ0;A2VCT9;Q5Y7D6;Q5Y7A9	.;.;.;.	T	82;172;172;172;172;108	ENSP00000382032:A82T;ENSP00000382029:A172T;ENSP00000364080:A172T;ENSP00000407332:A172T;ENSP00000382034:A172T	ENSP00000364080:A172T	A	-	1	0	HLA-DQB1	32737869	0.000000	0.05858	0.034000	0.17996	0.001000	0.01503	0.431000	0.21444	0.057000	0.16193	-1.922000	0.00515	GCC		0.547	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1		NM_002123	
HNRNPR	10236	hgsc.bcm.edu;ucsc.edu	37	1	23640079	23640079	+	Missense_Mutation	SNP	A	A	T	rs372162584		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr1:23640079A>T	ENST00000374612.1	-	9	1257	c.1134T>A	c.(1132-1134)ttT>ttA	p.F378L	HNRNPR_ENST00000426846.2_Missense_Mutation_p.F218L|HNRNPR_ENST00000606561.1_Missense_Mutation_p.F239L|HNRNPR_ENST00000302271.6_Missense_Mutation_p.F378L|HNRNPR_ENST00000476660.1_5'Flank|HNRNPR_ENST00000478691.1_Missense_Mutation_p.F280L|HNRNPR_ENST00000374616.3_Missense_Mutation_p.F381L|HNRNPR_ENST00000427764.2_Missense_Mutation_p.F340L	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	378	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAAAATGAACAAATGCATAAT	0.323																																																	0													76.0	80.0	79.0					1																	23640079		2201	4299	6500	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1134T>A	1.37:g.23640079A>T	ENSP00000363741:p.Phe378Leu		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	CCDS232.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596313	0.86953	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	D;T;T;T;D	0.82619	-1.63;1.54;1.54;1.54;-1.63	5.75	3.4	0.38934	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	M	0.83223	2.63	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.99;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.996;0.996;0.999;1.0;0.999	D	0.89713	0.3913	10	0.87932	D	0	.	9.149	0.36951	0.8478:0.0:0.1522:0.0	.	218;340;239;358;378;381	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	L	381;378;378;340;218	ENSP00000363745:F381L;ENSP00000363741:F378L;ENSP00000304405:F378L;ENSP00000392799:F340L;ENSP00000415042:F218L	ENSP00000304405:F378L	F	-	3	2	HNRNPR	23512666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.245000	0.43133	0.959000	0.37980	0.477000	0.44152	TTT		0.323	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1		NM_005826	
HOXC10	3226	hgsc.bcm.edu;ucsc.edu	37	12	54383107	54383107	+	Silent	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:54383107C>T	ENST00000303460.4	+	2	980	c.906C>T	c.(904-906)agC>agT	p.S302S	MIR196A2_ENST00000385189.1_RNA|HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	302					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TGGAGATTAGCAAGACCATTA	0.438											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79.0	77.0	78.0					12																	54383107		2203	4300	6503	SO:0001819	synonymous_variant	3226				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.906C>T	12.37:g.54383107C>T		999	O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	37	CCDS8868.1																																																																																				0.438	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			
HPS3	84343	hgsc.bcm.edu;ucsc.edu	37	3	148858222	148858222	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr3:148858222A>T	ENST00000296051.2	+	2	789	c.649A>T	c.(649-651)Aat>Tat	p.N217Y	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	217					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGGCCCTAAAAATGGAGAGAG	0.378									Hermansky-Pudlak syndrome																																								0													94.0	95.0	95.0					3																	148858222		2194	4300	6494	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.649A>T	3.37:g.148858222A>T	ENSP00000296051:p.Asn217Tyr		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633035	0.29068	.	.	ENSG00000163755	ENST00000296051	T	0.64618	-0.11	5.04	1.27	0.21489	.	0.804837	0.11895	N	0.519237	T	0.50871	0.1641	L	0.40543	1.245	0.20703	N	0.999868	P	0.34462	0.454	B	0.36244	0.22	T	0.43988	-0.9357	10	0.54805	T	0.06	-3.6689	6.972	0.24654	0.6249:0.297:0.0781:0.0	.	217	Q969F9	HPS3_HUMAN	Y	217	ENSP00000296051:N217Y	ENSP00000296051:N217Y	N	+	1	0	HPS3	150340912	0.008000	0.16893	0.046000	0.18839	0.648000	0.38561	0.082000	0.14847	0.393000	0.25203	0.528000	0.53228	AAT		0.378	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383	
IL1R1	3554	hgsc.bcm.edu;ucsc.edu	37	2	102792950	102792950	+	Missense_Mutation	SNP	G	G	A	rs200215516		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:102792950G>A	ENST00000410023.1	+	12	1759	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	IL1R1_ENST00000409929.1_Missense_Mutation_p.D450N|IL1R1_ENST00000424272.1_3'UTR|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.D481N|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	481	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCTTGTTCAGGATGGAATTAA	0.408																																																	0													71.0	69.0	70.0					2																	102792950		2203	4300	6503	SO:0001583	missense	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1441G>A	2.37:g.102792950G>A	ENSP00000386380:p.Asp481Asn		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188842	0.78789	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.07444	3.19;3.19;3.19	5.61	3.83	0.44106	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.367292	0.33712	N	0.004624	T	0.10252	0.0251	L	0.31207	0.915	0.29985	N	0.817365	P;B	0.40834	0.73;0.095	P;B	0.49477	0.612;0.041	T	0.06752	-1.0809	10	0.27785	T	0.31	.	9.2404	0.37493	0.2178:0.0:0.7822:0.0	.	450;481	B8ZZW4;P14778	.;IL1R1_HUMAN	N	450;481;481	ENSP00000386776:D450N;ENSP00000386380:D481N;ENSP00000233946:D481N	ENSP00000233946:D481N	D	+	1	0	IL1R1	102159382	0.988000	0.35896	0.700000	0.30305	0.995000	0.86356	2.841000	0.48223	0.744000	0.32741	0.563000	0.77884	GAT		0.408	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			
KIAA1919	91749	hgsc.bcm.edu;ucsc.edu	37	6	111587971	111587971	+	Silent	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr6:111587971T>A	ENST00000368847.4	+	4	1559	c.1206T>A	c.(1204-1206)ccT>ccA	p.P402P		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	402					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTTATTTCCTGTGCTATATA	0.428																																																	0													96.0	103.0	100.0					6																	111587971		2203	4300	6503	SO:0001819	synonymous_variant	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1206T>A	6.37:g.111587971T>A			A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	ENST00000368847.4	37	CCDS5090.1																																																																																				0.428	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1		NM_153369	
KIF2B	84643	hgsc.bcm.edu	37	17	51900836	51900836	+	Missense_Mutation	SNP	C	C	T	rs59657238	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:51900836C>T	ENST00000268919.4	+	1	598	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	148			P -> S (in dbSNP:rs59657238).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAAAAGTCTCCCTGCCTCTG	0.567													C|||	293	0.0585064	0.1483	0.0259	5008	,	,		17038	0.001		0.0626	False		,,,				2504	0.0153																0								C	SER/PRO	497,3909	211.5+/-231.7	22,453,1728	53.0	57.0	55.0		442	0.3	0.3	17	dbSNP_129	55	446,8154	126.7+/-185.1	12,422,3866	yes	missense	KIF2B	NM_032559.4	74	34,875,5594	TT,TC,CC		5.186,11.2801,7.2505	benign	148/674	51900836	943,12063	2203	4300	6503	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.442C>T	17.37:g.51900836C>T	ENSP00000268919:p.Pro148Ser		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	144	0.06593406593406594	83	0.16869918699186992	13	0.03591160220994475	0	0.0	48	0.0633245382585752	C	0.971	-0.700139	0.03279	0.112801	0.05186	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.72725	-0.68	4.99	0.323	0.15893	.	0.317263	0.22194	N	0.063336	T	0.00144	0.0004	N	0.11927	0.2	0.36768	P	0.11636500000000005	B	0.20887	0.049	B	0.16722	0.016	T	0.03112	-1.1071	9	0.07482	T	0.82	.	3.98	0.09490	0.2754:0.4093:0.2414:0.0739	rs59657238;rs62069524	148	Q8N4N8	KIF2B_HUMAN	S	148;71	ENSP00000268919:P148S	ENSP00000268919:P148S	P	+	1	0	KIF2B	49255835	0.000000	0.05858	0.291000	0.24904	0.377000	0.30045	0.255000	0.18333	0.023000	0.15187	-0.136000	0.14681	CCC		0.567	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1		NM_032559	
KLHL36	79786	hgsc.bcm.edu;ucsc.edu	37	16	84690712	84690712	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr16:84690712T>A	ENST00000564996.1	+	3	440	c.299T>A	c.(298-300)gTg>gAg	p.V100E	KLHL36_ENST00000258157.5_Missense_Mutation_p.V100E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	100	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTCAAGGCCGTGGTGGACTTC	0.597																																																	0													81.0	73.0	75.0					16																	84690712		2199	4300	6499	SO:0001583	missense	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.299T>A	16.37:g.84690712T>A	ENSP00000456743:p.Val100Glu		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371440	0.61624	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69685	-0.42	5.79	4.71	0.59529	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.055610	0.64402	D	0.000001	T	0.82157	0.4976	M	0.92784	3.345	0.80722	D	1	D;D	0.57257	0.979;0.962	P;P	0.59703	0.849;0.862	D	0.85829	0.1390	10	0.87932	D	0	.	10.5386	0.45020	0.0:0.0748:0.0:0.9252	.	100;100	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	E	100	ENSP00000258157:V100E	ENSP00000258157:V100E	V	+	2	0	KLHL36	83248213	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	6.134000	0.71689	2.198000	0.70561	0.533000	0.62120	GTG		0.597	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			
LIMK2	3985	hgsc.bcm.edu	37	22	31658681	31658681	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr22:31658681T>C	ENST00000331728.4	+	7	872	c.758T>C	c.(757-759)cTc>cCc	p.L253P	LIMK2_ENST00000333611.4_Missense_Mutation_p.L232P|LIMK2_ENST00000406516.1_Missense_Mutation_p.L175P|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.L232P	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	253					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAGGCCCGGCTCGCTCCTCAC	0.612																																																	0													65.0	63.0	64.0					22																	31658681		2203	4300	6503	SO:0001583	missense	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.758T>C	22.37:g.31658681T>C	ENSP00000332687:p.Leu253Pro		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444361	0.43429	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.75477	-0.94;-0.78;-0.84;-0.91	5.53	5.53	0.82687	.	0.193453	0.45867	D	0.000339	T	0.72977	0.3528	M	0.61703	1.905	0.80722	D	1	P;B;B;P	0.49961	0.588;0.002;0.203;0.93	B;B;B;P	0.44732	0.195;0.002;0.122;0.459	T	0.71922	-0.4446	10	0.26408	T	0.33	-26.804	13.3924	0.60830	0.0:0.0:0.0:1.0	.	285;232;253;175	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	P	175;253;285;232;232	ENSP00000384602:L175P;ENSP00000332687:L253P;ENSP00000330470:L232P;ENSP00000339916:L232P	ENSP00000332687:L253P	L	+	2	0	LIMK2	29988681	0.998000	0.40836	1.000000	0.80357	0.485000	0.33311	4.686000	0.61700	2.100000	0.63781	0.482000	0.46254	CTC		0.612	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1		NM_016733	
MLF2	8079	hgsc.bcm.edu;ucsc.edu	37	12	6859057	6859057	+	Silent	SNP	C	C	T	rs201104363	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:6859057C>T	ENST00000203630.5	-	7	1160	c.516G>A	c.(514-516)acG>acA	p.T172T	MLF2_ENST00000435120.1_Silent_p.T172T|MLF2_ENST00000539187.1_Silent_p.T172T|MLF2_ENST00000542154.1_Silent_p.T172T|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	172					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T172T(1)		kidney(2)|large_intestine(3)|lung(4)	9						CCTGGTCCCCCGTGCGATGGT	0.612													C|||	12	0.00239617	0.0	0.0	5008	,	,		16205	0.0		0.001	False		,,,				2504	0.0112																1	Substitution - coding silent(1)	lung(1)											109.0	91.0	97.0					12																	6859057		2203	4300	6503	SO:0001819	synonymous_variant	8079			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.516G>A	12.37:g.6859057C>T				Silent	SNP	ENST00000203630.5	37	CCDS8559.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.13	1.844842	0.32606	.	.	ENSG00000089693	ENST00000537126	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.63034	0.2477	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80908	-0.1172	5	0.87932	D	0	.	11.3127	0.49372	0.0696:0.0898:0.1311:0.7095	.	.	.	.	Q	183	.	ENSP00000439789:R183Q	R	-	2	0	MLF2	6729318	0.000000	0.05858	0.093000	0.20910	0.970000	0.65996	-2.378000	0.01068	-3.057000	0.00258	-1.069000	0.02264	CGG		0.612	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			
MPHOSPH10	10199	hgsc.bcm.edu;ucsc.edu	37	2	71360308	71360308	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:71360308G>T	ENST00000244230.2	+	2	722	c.370G>T	c.(370-372)Gct>Tct	p.A124S	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.A124S|MCEE_ENST00000244217.5_5'Flank	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	124					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGAGATAGAGGCTGATGACAA	0.433																																																	0													82.0	81.0	81.0					2																	71360308		2203	4300	6503	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.370G>T	2.37:g.71360308G>T	ENSP00000244230:p.Ala124Ser		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	7.210	0.595273	0.13875	.	.	ENSG00000124383	ENST00000244230	T	0.10668	2.85	5.01	2.09	0.27110	.	0.477946	0.19852	N	0.104610	T	0.05731	0.0150	L	0.27053	0.805	0.19300	N	0.999979	B;B	0.13145	0.007;0.001	B;B	0.14578	0.011;0.008	T	0.42682	-0.9437	10	0.09843	T	0.71	.	4.8479	0.13523	0.1704:0.0:0.5326:0.297	.	124;124	B3KPV5;O00566	.;MPP10_HUMAN	S	124	ENSP00000244230:A124S	ENSP00000244230:A124S	A	+	1	0	MPHOSPH10	71213816	0.003000	0.15002	0.440000	0.26846	0.547000	0.35210	0.554000	0.23407	0.605000	0.29947	0.455000	0.32223	GCT		0.433	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2		NM_005791	
MRVI1	10335	hgsc.bcm.edu	37	11	10673639	10673639	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:10673639A>T	ENST00000436272.1	-	1	209	c.131T>A	c.(130-132)aTg>aAg	p.M44K	MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.M44K|MRVI1_ENST00000541483.1_Missense_Mutation_p.M53K|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.M53K|MRVI1_ENST00000421747.1_Missense_Mutation_p.M44K|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000532037.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	44					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AATGTGGGGCATGGCAGCCTC	0.687																																																	0													14.0	19.0	17.0					11																	10673639		2002	4164	6166	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.131T>A	11.37:g.10673639A>T	ENSP00000412229:p.Met44Lys		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	A	23.7	4.446550	0.84101	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000529547	T;T;T;T;T;T	0.59083	2.53;2.48;2.33;1.82;2.53;0.29	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.63165	0.2488	L	0.32530	0.975	0.80722	D	1	D;P;P;D	0.53462	0.96;0.932;0.932;0.96	D;P;P;D	0.66979	0.948;0.888;0.888;0.948	T	0.62006	-0.6945	10	0.39692	T	0.17	-16.8624	11.4764	0.50300	1.0:0.0:0.0:0.0	.	53;44;44;44	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	K	44;44;44;53;53;44;1	ENSP00000414598:M44K;ENSP00000412229:M44K;ENSP00000412130:M53K;ENSP00000437784:M53K;ENSP00000432436:M44K;ENSP00000432325:M1K	ENSP00000307885:M44K	M	-	2	0	MRVI1	10630215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.512000	0.60469	2.205000	0.71048	0.533000	0.62120	ATG		0.687	MRVI1-203	KNOWN	basic	protein_coding	protein_coding			NM_001098579	
MYO15A	51168	hgsc.bcm.edu	37	17	18022777	18022777	+	Silent	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:18022777G>A	ENST00000205890.5	+	2	1001	c.663G>A	c.(661-663)aaG>aaA	p.K221K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	221					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCCCGCAAGTCGCTGTACG	0.652																																																	0													34.0	38.0	37.0					17																	18022777		2068	4195	6263	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.663G>A	17.37:g.18022777G>A			B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239	
NAT9	26151	hgsc.bcm.edu;ucsc.edu	37	17	72769044	72769044	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:72769044T>C	ENST00000357814.3	-	4	398	c.325A>G	c.(325-327)Atg>Gtg	p.M109V	NAT9_ENST00000581136.1_Missense_Mutation_p.M109V|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000580301.1_Missense_Mutation_p.M108V|NAT9_ENST00000583757.1_Missense_Mutation_p.M108V|NAT9_ENST00000580632.1_Missense_Mutation_p.M108V|NAT9_ENST00000582524.1_Missense_Mutation_p.M109V|NAT9_ENST00000578822.1_Missense_Mutation_p.M114V|NAT9_ENST00000582870.1_Missense_Mutation_p.M113V|NAT9_ENST00000583476.1_Missense_Mutation_p.M109V	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	109	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CCTGCAATCATGACCTCGATC	0.592																																																	0													126.0	99.0	108.0					17																	72769044		2203	4300	6503	SO:0001583	missense	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.325A>G	17.37:g.72769044T>C	ENSP00000350467:p.Met109Val		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515369	0.44763	.	.	ENSG00000109065	ENST00000357814	T	0.45668	0.89	5.41	5.41	0.78517	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.115651	0.85682	D	0.000000	T	0.68522	0.3010	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.978	T	0.72606	-0.4242	10	0.45353	T	0.12	-35.1353	15.4037	0.74861	0.0:0.0:0.0:1.0	.	108;109	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	V	109	ENSP00000350467:M109V	ENSP00000350467:M109V	M	-	1	0	NAT9	70280639	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.942000	0.87708	2.172000	0.68678	0.533000	0.62120	ATG		0.592	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1		NM_015654	
NCAM1	4684	hgsc.bcm.edu	37	11	113140927	113140927	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:113140927T>C	ENST00000316851.7	+	16	2119	c.2119T>C	c.(2119-2121)Tca>Cca	p.S707P	NCAM1-AS1_ENST00000533638.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	717					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGCCCCACCTCAGGCCTGAG	0.602																																																	0													100.0	119.0	113.0					11																	113140927		2106	4248	6354	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.2119T>C	11.37:g.113140927T>C	ENSP00000318472:p.Ser707Pro		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000316851.7	37		.	.	.	.	.	.	.	.	.	.	T	12.95	2.090651	0.36855	.	.	ENSG00000149294	ENST00000531044;ENST00000316851;ENST00000433634	T	0.65549	-0.16	5.53	-5.33	0.02713	.	0.278142	0.29995	U	0.010669	T	0.44414	0.1292	.	.	.	0.29865	N	0.827285	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.001;0.004;0.0	T	0.30707	-0.9969	9	0.52906	T	0.07	-21.6365	11.0966	0.48147	0.1796:0.0:0.5066:0.3138	.	589;707;717	E9PLH7;P13591-1;P13591	.;.;NCAM1_HUMAN	P	589;707;172	ENSP00000318472:S707P	ENSP00000318472:S707P	S	+	1	0	NCAM1	112646137	0.009000	0.17119	0.193000	0.23327	0.951000	0.60555	0.138000	0.16016	-0.589000	0.05874	-0.461000	0.05368	TCA		0.602	NCAM1-201	KNOWN	basic	protein_coding	protein_coding			NM_000615	
NEURL4	84461	hgsc.bcm.edu	37	17	7229846	7229846	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:7229846C>G	ENST00000399464.2	-	5	1129	c.1114G>C	c.(1114-1116)Gat>Cat	p.D372H	NEURL4_ENST00000315614.7_Missense_Mutation_p.D372H|NEURL4_ENST00000570460.1_Missense_Mutation_p.D350H	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	372	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCACTTATCAACAAGCTTG	0.542																																																	0													99.0	106.0	104.0					17																	7229846		2035	4180	6215	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1114G>C	17.37:g.7229846C>G	ENSP00000382390:p.Asp372His		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118976	0.77323	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35605	1.3;1.33	5.28	5.28	0.74379	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.58101	1.795	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.55192	-0.8179	10	0.54805	T	0.06	-24.2076	15.9324	0.79675	0.0:1.0:0.0:0.0	.	372;372	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	H	372	ENSP00000319826:D372H;ENSP00000382390:D372H	ENSP00000319826:D372H	D	-	1	0	NEURL4	7170570	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.192000	0.77771	2.755000	0.94549	0.655000	0.94253	GAT		0.542	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2		NM_032442	
NR4A2	4929	hgsc.bcm.edu	37	2	157185033	157185033	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:157185033T>G	ENST00000339562.4	-	4	1239	c.877A>C	c.(877-879)Aaa>Caa	p.K293Q	NR4A2_ENST00000426264.1_Missense_Mutation_p.K230Q|NR4A2_ENST00000429376.1_Missense_Mutation_p.K230Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.K293Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.K293Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.K304Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	293					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTTGCATTTTTTTGCACTGTG	0.428																																																	0													73.0	72.0	72.0					2																	157185033		2203	4300	6503	SO:0001583	missense	4929			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.877A>C	2.37:g.157185033T>G	ENSP00000344479:p.Lys293Gln		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.70|16.70	3.194630|3.194630	0.58017|0.58017	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376|ENST00000406048	D;D;D;D;D;D|.	0.97480|.	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);|.	0.043726|0.043726	0.85682|0.85682	D|N	0.000000|0.000000	T|T	0.74520|0.74520	0.3727|0.3727	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.75569|0.75569	-0.3272|-0.3272	10|6	0.87932|.	D|.	0|.	.|.	12.8066|12.8066	0.57618|0.57618	0.1223:0.0:0.0:0.8777|0.1223:0.0:0.0:0.8777	.|.	293|.	P43354|.	NR4A2_HUMAN|.	Q|T	293;230;293;304;293;230|74	ENSP00000344479:K293Q;ENSP00000389986:K230Q;ENSP00000386747:K293Q;ENSP00000444925:K304Q;ENSP00000386993:K293Q;ENSP00000410952:K230Q|.	ENSP00000344479:K293Q|.	K|K	-|-	1|2	0|0	NR4A2|NR4A2	156893279|156893279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.294000|6.294000	0.72738|0.72738	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.428	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			
OR6F1	343169	hgsc.bcm.edu	37	1	247875706	247875706	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr1:247875706T>A	ENST00000302084.2	-	1	399	c.352A>T	c.(352-354)Atg>Ttg	p.M118L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCATAAGCCATGGCTGCCAGG	0.517																																																	0													85.0	82.0	83.0					1																	247875706		2203	4300	6503	SO:0001583	missense	343169			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.352A>T	1.37:g.247875706T>A	ENSP00000305640:p.Met118Leu		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158259	0.78114	.	.	ENSG00000169214	ENST00000302084	T	0.00892	5.57	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.07098	0.0180	H	0.95402	3.665	0.45005	D	0.998025	P	0.45283	0.855	P	0.57101	0.813	T	0.00151	-1.1985	10	0.72032	D	0.01	-57.2479	12.1482	0.54036	0.0:0.0:0.0:1.0	.	118	Q8NGZ6	OR6F1_HUMAN	L	118	ENSP00000305640:M118L	ENSP00000305640:M118L	M	-	1	0	OR6F1	245942329	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.949000	0.63596	1.793000	0.52555	0.482000	0.46254	ATG		0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1		NM_001005286	
PDE1A	5136	hgsc.bcm.edu;ucsc.edu	37	2	183050723	183050723	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:183050723G>T	ENST00000410103.1	-	14	1543	c.1460C>A	c.(1459-1461)tCc>tAc	p.S487Y	PDE1A_ENST00000331935.6_Missense_Mutation_p.S487Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.S383Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.S487Y|PDE1A_ENST00000435564.1_Missense_Mutation_p.S487Y|PDE1A_ENST00000346717.4_Missense_Mutation_p.S453Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.S471Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.S471Y|PDE1A_ENST00000456212.1_Missense_Mutation_p.S487Y	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	487	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GTAGTCTGGGGAATAGGACCC	0.463																																																	0													200.0	169.0	179.0					2																	183050723		2203	4300	6503	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1460C>A	2.37:g.183050723G>T	ENSP00000387037:p.Ser487Tyr		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.847098	0.32606	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.72051	-0.56;-0.55;-0.54;-0.55;-0.56;-0.54;-0.55;-0.55;-0.62	5.66	3.69	0.42338	.	0.780519	0.12539	N	0.460124	T	0.62539	0.2436	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B	0.31435	0.013;0.257;0.044;0.323;0.022	B;B;B;B;B	0.38378	0.035;0.187;0.035;0.272;0.077	T	0.56631	-0.7947	10	0.59425	D	0.04	.	7.252	0.26154	0.16:0.0:0.6989:0.141	.	383;453;487;471;487	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	Y	487;453;383;471;487;471;487;487;487	ENSP00000410309:S487Y;ENSP00000329112:S453Y;ENSP00000439938:S383Y;ENSP00000386767:S471Y;ENSP00000331574:S487Y;ENSP00000309269:S471Y;ENSP00000387037:S487Y;ENSP00000350858:S487Y;ENSP00000408874:S487Y	ENSP00000331574:S487Y	S	-	2	0	PDE1A	182758968	0.285000	0.24296	0.054000	0.19295	0.096000	0.18686	1.155000	0.31700	0.741000	0.32674	-0.140000	0.14226	TCC		0.463	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			
PDGFC	56034	hgsc.bcm.edu	37	4	157892006	157892006	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr4:157892006C>T	ENST00000502773.1	-	1	540	c.50G>A	c.(49-51)aGa>aAa	p.R17K	PDGFC_ENST00000422544.2_Missense_Mutation_p.R17K|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	17					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGTCCCCTGTCTCTGGCCGGC	0.572											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													74.0	80.0	78.0					4																	157892006		2203	4300	6503	SO:0001583	missense	56034			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.50G>A	4.37:g.157892006C>T	ENSP00000422464:p.Arg17Lys	1789	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736496	0.15574	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.15372	2.48;2.43	4.67	2.91	0.33838	.	0.369992	0.19059	N	0.123824	T	0.12347	0.0300	L	0.32530	0.975	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07404	-1.0774	10	0.87932	D	0	-5.602	6.4022	0.21644	0.3235:0.5912:0.0:0.0853	.	17	Q9NRA1	PDGFC_HUMAN	K	17	ENSP00000422464:R17K;ENSP00000410048:R17K	ENSP00000274071:R17K	R	-	2	0	PDGFC	158111456	0.981000	0.34729	0.774000	0.31636	0.399000	0.30720	0.362000	0.20284	0.375000	0.24679	0.460000	0.39030	AGA		0.572	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			
PKHD1L1	93035	hgsc.bcm.edu;ucsc.edu	37	8	110456096	110456096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr8:110456096G>T	ENST00000378402.5	+	37	4860	c.4756G>T	c.(4756-4758)Gga>Tga	p.G1586*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1586	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACAATTATTGGACATGGCTT	0.318										HNSCC(38;0.096)																																							0													102.0	98.0	99.0					8																	110456096		1818	4076	5894	SO:0001587	stop_gained	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4756G>T	8.37:g.110456096G>T	ENSP00000367655:p.Gly1586*		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	45	11.971930	0.99622	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	.	.	.	X	1586	.	ENSP00000367655:G1586X	G	+	1	0	PKHD1L1	110525272	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	4.717000	0.61923	2.884000	0.98904	0.655000	0.94253	GGA		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	
PLEKHB1	58473	hgsc.bcm.edu	37	11	73362890	73362890	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:73362890A>C	ENST00000354190.5	+	4	736	c.305A>C	c.(304-306)gAa>gCa	p.E102A	PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.E102A|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.E83A|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.E32A|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.E83A|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.E83A	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	102	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						AACCTACGGGAAGGCGGCCGC	0.602																																																	0													32.0	36.0	35.0					11																	73362890		2005	4156	6161	SO:0001583	missense	58473			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.305A>C	11.37:g.73362890A>C	ENSP00000346127:p.Glu102Ala		A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625480	0.46840	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000545798;ENST00000539157;ENST00000546251;ENST00000535582;ENST00000538227;ENST00000539549;ENST00000542185;ENST00000543524;ENST00000541597;ENST00000535129;ENST00000542389;ENST00000540431	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.53	4.53	0.55603	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.181915	0.44483	D	0.000447	T	0.28532	0.0706	L	0.43152	1.355	0.32638	N	0.52113	B;B;B;B	0.33637	0.18;0.028;0.344;0.42	B;B;B;B	0.37304	0.19;0.06;0.228;0.246	T	0.44190	-0.9344	10	0.52906	T	0.07	-1.7058	10.4148	0.44316	1.0:0.0:0.0:0.0	.	83;106;102;102	F5GXN2;Q59EU5;Q9UF11-2;Q9UF11	.;.;.;PKHB1_HUMAN	A	102;102;83;83;32;83;90;83;83;83;83;83;83;83;83;83;90	ENSP00000346127:E102A;ENSP00000381505:E102A;ENSP00000227214:E83A;ENSP00000381507:E83A;ENSP00000441224:E32A;ENSP00000445990:E90A;ENSP00000439714:E83A;ENSP00000438809:E83A;ENSP00000445807:E83A;ENSP00000444453:E83A;ENSP00000442136:E83A;ENSP00000442616:E83A;ENSP00000440102:E83A;ENSP00000441558:E90A	ENSP00000227214:E83A	E	+	2	0	PLEKHB1	73040538	1.000000	0.71417	0.936000	0.37596	0.873000	0.50193	5.488000	0.66869	2.023000	0.59567	0.482000	0.46254	GAA		0.602	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			
PRKCE	5581	hgsc.bcm.edu;ucsc.edu	37	2	46211702	46211702	+	Silent	SNP	C	C	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:46211702C>A	ENST00000306156.3	+	6	1033	c.706C>A	c.(706-708)Cgg>Agg	p.R236R		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	236					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GGGCTCCCAGCGGTTCAGCGT	0.552																																																	0													127.0	138.0	135.0					2																	46211702		2081	4191	6272	SO:0001819	synonymous_variant	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.706C>A	2.37:g.46211702C>A			B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	CCDS1824.1																																																																																				0.552	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			
PTPRK	5796	hgsc.bcm.edu;ucsc.edu	37	6	128643199	128643199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr6:128643199C>T	ENST00000368215.3	-	3	479	c.480G>A	c.(478-480)tgG>tgA	p.W160*	PTPRK_ENST00000368213.5_Nonsense_Mutation_p.W160*|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.W160*|PTPRK_ENST00000525459.1_Nonsense_Mutation_p.W160*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.W160*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.W160*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.W160*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.W160*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	160	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTCATTGGGCCAAAAGGTGC	0.408																																																	0													104.0	100.0	101.0					6																	128643199		2203	4300	6503	SO:0001587	stop_gained	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.480G>A	6.37:g.128643199C>T	ENSP00000357198:p.Trp160*		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.256630|7.256630	0.98168|0.98168	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000490332|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.31888|.	0.0811|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29761|.	-1.0001|.	3|.	.|0.02654	.|T	.|1	.|.	19.3054|19.3054	0.94161|0.94161	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	43|160	.|.	.|ENSP00000357190:W160X	G|W	-|-	2|3	0|0	PTPRK|PTPRK	128684892|128684892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.408	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			
RABL3	285282	hgsc.bcm.edu	37	3	120428688	120428688	+	Silent	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr3:120428688G>A	ENST00000273375.3	-	3	236	c.207C>T	c.(205-207)ggC>ggT	p.G69G	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Silent_p.G69G	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	69	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGCCCACAGAGCCTCCAACAT	0.348																																																	0													97.0	96.0	96.0					3																	120428688		2203	4300	6503	SO:0001819	synonymous_variant	285282			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.207C>T	3.37:g.120428688G>A			Q8WUD3	Silent	SNP	ENST00000273375.3	37	CCDS3001.1																																																																																				0.348	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1		NM_173825	
RDH11	51109	hgsc.bcm.edu;ucsc.edu	37	14	68145133	68145133	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr14:68145133G>T	ENST00000381346.4	-	7	972	c.862C>A	c.(862-864)Cat>Aat	p.H288N	RP11-1012A1.4_ENST00000553306.1_Intron|RDH11_ENST00000428130.2_Missense_Mutation_p.H218N|RP11-1012A1.4_ENST00000554493.1_Intron|RDH11_ENST00000553384.1_Missense_Mutation_p.H275N	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	288					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CATGCCACATGACAGTCACTG	0.488																																																	0													83.0	74.0	77.0					14																	68145133		2203	4300	6503	SO:0001583	missense	51109			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.862C>A	14.37:g.68145133G>T	ENSP00000370750:p.His288Asn		A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621921	0.28889	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.31	2.14	0.27477	NAD(P)-binding domain (1);	0.962394	0.08716	N	0.904233	T	0.35682	0.0940	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.16396	0.005;0.017;0.01	B;B;B	0.19666	0.006;0.026;0.017	T	0.19257	-1.0311	10	0.20519	T	0.43	.	11.6335	0.51189	0.0:0.0:0.3886:0.6114	.	218;275;288	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	N	288;275;218;174	ENSP00000370750:H288N;ENSP00000452079:H275N;ENSP00000416395:H218N;ENSP00000450802:H174N	ENSP00000370750:H288N	H	-	1	0	RDH11	67214886	0.189000	0.23263	0.731000	0.30826	0.837000	0.47467	0.331000	0.19733	0.753000	0.32945	0.650000	0.86243	CAT		0.488	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			
MOK	5891	hgsc.bcm.edu;ucsc.edu	37	14	102698939	102698939	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr14:102698939C>G	ENST00000361847.2	-	9	1030	c.799G>C	c.(799-801)Gcc>Ccc	p.A267P	MOK_ENST00000517966.1_5'UTR|MOK_ENST00000523231.1_5'UTR|MOK_ENST00000193029.6_Missense_Mutation_p.A33P|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.A266P|MOK_ENST00000519058.1_5'UTR|MOK_ENST00000520266.1_Intron|MOK_ENST00000524214.1_Missense_Mutation_p.A237P|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000561150.1_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										GGATCATAGGCCACCATTGCG	0.517																																																	0													160.0	160.0	160.0					14																	102698939		2203	4300	6503	SO:0001583	missense	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.799G>C	14.37:g.102698939C>G	ENSP00000355304:p.Ala267Pro		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	18.81	3.703785	0.68501	.	.	ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214	T;T;T;T	0.66815	0.89;-0.23;-0.23;-0.23	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.221093	0.40640	N	0.001049	T	0.74935	0.3782	M	0.80422	2.495	0.39511	D	0.968352	P;P	0.52463	0.953;0.916	P;P	0.54026	0.74;0.74	T	0.76963	-0.2764	10	0.41790	T	0.15	-4.9579	9.2087	0.37304	0.0:0.7668:0.1497:0.0835	.	237;267	E7ERR8;Q9UQ07	.;MOK_HUMAN	P	33;266;267;237	ENSP00000193029:A33P;ENSP00000429469:A266P;ENSP00000355304:A267P;ENSP00000428942:A237P	ENSP00000193029:A33P	A	-	1	0	RAGE	101768692	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.463000	0.53050	2.590000	0.87494	0.462000	0.41574	GCC		0.517	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			
REM1	28954	hgsc.bcm.edu	37	20	30064331	30064331	+	Missense_Mutation	SNP	A	A	G	rs1006459	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:30064331A>G	ENST00000201979.2	+	2	376	c.83A>G	c.(82-84)cAc>cGc	p.H28R	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	28			H -> R (in dbSNP:rs1006459). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCACGGGGCCACCAGCCTGGC	0.647													G|||	2277	0.454673	0.9024	0.3386	5008	,	,		15593	0.2659		0.3221	False		,,,				2504	0.2628																0								G	ARG/HIS	3545,861	334.7+/-303.5	1425,695,83	72.0	86.0	81.0		83	0.2	0.7	20	dbSNP_86	81	2700,5900	681.6+/-403.7	411,1878,2011	yes	missense	REM1	NM_014012.4	29	1836,2573,2094	GG,GA,AA		31.3953,19.5415,48.0163	benign	28/299	30064331	6245,6761	2203	4300	6503	SO:0001583	missense	28954			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.83A>G	20.37:g.30064331A>G	ENSP00000201979:p.His28Arg		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	CCDS13181.1	974	0.445970695970696	437	0.8882113821138211	137	0.3784530386740331	163	0.28496503496503495	237	0.31266490765171506	G	3.961	-0.010297	0.07727	0.804585	0.313953	ENSG00000088320	ENST00000201979	T	0.65364	-0.15	4.25	0.213	0.15244	.	1.023970	0.07776	N	0.952480	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31194	-0.9952	9	0.24483	T	0.36	.	5.039	0.14449	0.4557:0.1613:0.383:0.0	rs1006459;rs60259937	28	O75628	REM1_HUMAN	R	28	ENSP00000201979:H28R	ENSP00000201979:H28R	H	+	2	0	REM1	29527992	0.001000	0.12720	0.662000	0.29724	0.712000	0.41017	-0.783000	0.04638	-0.017000	0.14103	-0.119000	0.15052	CAC		0.647	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2		NM_014012	
RNF149	284996	hgsc.bcm.edu;ucsc.edu	37	2	101898370	101898370	+	Silent	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:101898370C>T	ENST00000295317.3	-	6	1217	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	370					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TGGGATCACACTGTGGCTCAG	0.488																																					Colon(25;331 612 6521 7355 31028)												0													165.0	150.0	155.0					2																	101898370		2203	4300	6503	SO:0001819	synonymous_variant	284996			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1110G>A	2.37:g.101898370C>T			Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Silent	SNP	ENST00000295317.3	37	CCDS2051.1																																																																																				0.488	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2		NM_173647	
SDK1	221935	hgsc.bcm.edu;ucsc.edu	37	7	4218135	4218135	+	Missense_Mutation	SNP	G	G	A	rs373316963		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:4218135G>A	ENST00000404826.2	+	35	5154	c.5015G>A	c.(5014-5016)cGc>cAc	p.R1672H	SDK1_ENST00000389531.3_Missense_Mutation_p.R1652H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1672	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGTACCGGCGCTATGAAGTA	0.532																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	110.0	106.0		5015	4.2	1.0	7		106	0,8600		0,0,4300	no	missense	SDK1	NM_152744.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1672/2214	4218135	1,13005	2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5015G>A	7.37:g.4218135G>A	ENSP00000385899:p.Arg1672His		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568435	0.45798	2.27E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57436	0.4;0.4	5.09	4.19	0.49359	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.52853	0.1760	M	0.74881	2.28	0.42644	D	0.993429	P;P;P	0.42649	0.746;0.786;0.611	B;B;B	0.40444	0.262;0.329;0.185	T	0.61584	-0.7033	10	0.59425	D	0.04	.	11.6065	0.51035	0.083:0.0:0.917:0.0	.	1652;159;1672	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	H	1672;1652	ENSP00000385899:R1672H;ENSP00000374182:R1652H	ENSP00000374182:R1652H	R	+	2	0	SDK1	4184661	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	5.808000	0.69165	2.525000	0.85131	0.655000	0.94253	CGC		0.532	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744	
SEC16B	89866	hgsc.bcm.edu	37	1	177927420	177927420	+	Silent	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr1:177927420A>C	ENST00000308284.6	-	10	1301	c.1212T>G	c.(1210-1212)ccT>ccG	p.P404P	SEC16B_ENST00000464631.2_Silent_p.P405P|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	404					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGTTGGCCACAGGGGGCTGCC	0.582																																																	0													42.0	46.0	45.0					1																	177927420		1972	4159	6131	SO:0001819	synonymous_variant	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1212T>G	1.37:g.177927420A>C			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	A	8.611	0.889147	0.17540	.	.	ENSG00000120341	ENST00000527976	.	.	.	4.96	-9.92	0.00455	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.45777	D	0.998663	.	.	.	.	.	.	T	0.49890	-0.8891	4	.	.	.	-10.8265	1.6007	0.02673	0.159:0.2898:0.2615:0.2897	.	.	.	.	G	48	.	.	C	-	1	0	AL359075.1	176194043	0.000000	0.05858	0.006000	0.13384	0.990000	0.78478	-7.795000	0.00029	-4.053000	0.00078	-0.350000	0.07774	TGT		0.582	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16		NM_033127	
SESTD1	91404	hgsc.bcm.edu	37	2	179997085	179997085	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:179997085A>C	ENST00000428443.3	-	10	1234	c.918T>G	c.(916-918)atT>atG	p.I306M		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	306							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGGAGGCCCTAATGGAGTCTC	0.458																																																	0													173.0	185.0	181.0					2																	179997085		2203	4300	6503	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.918T>G	2.37:g.179997085A>C	ENSP00000415332:p.Ile306Met		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508001	0.44558	.	.	ENSG00000187231	ENST00000428443	T	0.35789	1.29	6.0	-10.5	0.00291	.	0.085529	0.85682	D	0.000000	T	0.12008	0.0292	N	0.03608	-0.345	0.31670	N	0.64452	B	0.18461	0.028	B	0.11329	0.006	T	0.14643	-1.0465	9	.	.	.	-14.8141	17.6689	0.88211	0.1968:0.0:0.7157:0.0875	.	306	Q86VW0	SESD1_HUMAN	M	306	ENSP00000415332:I306M	.	I	-	3	3	SESTD1	179705330	0.001000	0.12720	0.383000	0.26132	0.973000	0.67179	-1.137000	0.03219	-1.972000	0.01001	-0.312000	0.09012	ATT		0.458	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2		NM_178123	
SGCZ	137868	hgsc.bcm.edu	37	8	13959919	13959919	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr8:13959919C>T	ENST00000382080.1	-	7	1425	c.710G>A	c.(709-711)aGg>aAg	p.R237K	SGCZ_ENST00000421524.2_Missense_Mutation_p.R190K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	224					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.R237M(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GAGCTCCTTCCTGCAGGTGGC	0.522																																																	1	Substitution - Missense(1)	lung(1)											73.0	71.0	72.0					8																	13959919		2203	4300	6503	SO:0001583	missense	137868			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.710G>A	8.37:g.13959919C>T	ENSP00000371512:p.Arg237Lys		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770481	0.90108	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.11495	2.77;2.77	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	M	0.71581	2.175	0.51012	D	0.999903	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.986	T	0.00677	-1.1614	10	0.24483	T	0.36	.	18.5461	0.91047	0.0:1.0:0.0:0.0	.	190;237	Q08AT0;Q96LD1-2	.;.	K	237;190	ENSP00000371512:R237K;ENSP00000405224:R190K	ENSP00000371512:R237K	R	-	2	0	SGCZ	14004290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.216000	0.77974	2.804000	0.96469	0.650000	0.86243	AGG		0.522	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2		NM_139167	
SKIV2L	6499	hgsc.bcm.edu	37	6	31930351	31930351	+	Silent	SNP	A	A	G	rs2734331	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr6:31930351A>G	ENST00000375394.2	+	11	1313	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	SKIV2L_ENST00000544581.1_Silent_p.T207T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	400	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCATGACCACAGAGATCCTTC	0.577													A|||	259	0.0517173	0.0068	0.0562	5008	,	,		19732	0.127		0.0318	False		,,,				2504	0.0521																0								A		87,4319	73.1+/-111.1	2,83,2118	57.0	53.0	54.0		1200	-3.3	0.9	6	dbSNP_100	54	340,8260	117.6+/-177.1	7,326,3967	yes	coding-synonymous	SKIV2L	NM_006929.4		9,409,6085	GG,GA,AA		3.9535,1.9746,3.2831		400/1247	31930351	427,12579	2203	4300	6503	SO:0001819	synonymous_variant	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1200A>G	6.37:g.31930351A>G			O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	CCDS4731.1																																																																																				0.577	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			
SLC26A4	5172	hgsc.bcm.edu;ucsc.edu	37	7	107335133	107335133	+	Missense_Mutation	SNP	G	G	A	rs200779286	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:107335133G>A	ENST00000265715.3	+	12	1633	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	SLC26A4_ENST00000544569.1_Missense_Mutation_p.R57H|SLC26A4_ENST00000541474.1_Missense_Mutation_p.R31H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.R39H|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	470					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACATTCCTCGTCTGTGGAGA	0.418									Pendred syndrome				G|||	2	0.000399361	0.0	0.0	5008	,	,		21267	0.001		0.001	False		,,,				2504	0.0																0			GRCh37	CM086956	SLC26A4	M							165.0	148.0	154.0					7																	107335133		2203	4300	6503	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1409G>A	7.37:g.107335133G>A	ENSP00000265715:p.Arg470His		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.77	1.443663	0.25987	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94723	-3.13;-3.5;-3.13;-3.13	5.76	4.88	0.63580	Sulphate transporter (1);	0.197585	0.45606	N	0.000342	D	0.90123	0.6914	L	0.35723	1.085	0.39179	D	0.962741	B;B;B	0.25235	0.048;0.121;0.031	B;B;B	0.21917	0.014;0.037;0.035	D	0.87203	0.2242	10	0.13853	T	0.58	.	15.1486	0.72677	0.0678:0.0:0.9322:0.0	.	31;57;470	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	H	470;31;57;39	ENSP00000265715:R470H;ENSP00000439743:R31H;ENSP00000437427:R57H;ENSP00000441209:R39H	ENSP00000265715:R470H	R	+	2	0	SLC26A4	107122369	0.992000	0.36948	1.000000	0.80357	0.988000	0.76386	3.008000	0.49544	1.583000	0.49898	0.655000	0.94253	CGT		0.418	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1		NM_000441	
SMG6	23293	hgsc.bcm.edu;ucsc.edu	37	17	2195864	2195864	+	Silent	SNP	A	A	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:2195864A>T	ENST00000263073.6	-	6	2369	c.2319T>A	c.(2317-2319)gcT>gcA	p.A773A	SMG6_ENST00000544865.1_Silent_p.A742A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	773					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCCAGCAAAGCCAACTGGT	0.443																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													127.0	133.0	131.0					17																	2195864		2203	4300	6503	SO:0001819	synonymous_variant	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2319T>A	17.37:g.2195864A>T			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																				0.443	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			
SYTL2	54843	hgsc.bcm.edu;ucsc.edu	37	11	85438961	85438961	+	Silent	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:85438961G>T	ENST00000528231.1	-	7	1714	c.1437C>A	c.(1435-1437)ggC>ggA	p.G479G	SYTL2_ENST00000359152.5_Silent_p.G37G|SYTL2_ENST00000354566.3_5'Flank|SYTL2_ENST00000524452.1_Silent_p.G479G|SYTL2_ENST00000389960.4_Silent_p.G479G|SYTL2_ENST00000316356.4_Silent_p.G480G|SYTL2_ENST00000527523.1_Silent_p.G431G|SYTL2_ENST00000525423.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	479					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCTAGAACTGCCACCTGGCA	0.453																																																	0													86.0	78.0	81.0					11																	85438961		2203	4299	6502	SO:0001819	synonymous_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1437C>A	11.37:g.85438961G>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.453	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927	
TAF1D	79101	hgsc.bcm.edu	37	11	93470348	93470348	+	Missense_Mutation	SNP	G	G	C	rs559531634		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:93470348G>C	ENST00000448108.2	-	4	1167	c.517C>G	c.(517-519)Ctg>Gtg	p.L173V	SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	173					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GATTCTTTCAGGTGGTGTTCA	0.299																																																	0													80.0	76.0	77.0					11																	93470348		2201	4298	6499	SO:0001583	missense	79101				CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.517C>G	11.37:g.93470348G>C	ENSP00000410409:p.Leu173Val		Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024233	0.75390	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000008	T	0.79575	0.4469	M	0.71581	2.175	0.52501	D	0.999955	D	0.89917	1.0	D	0.83275	0.996	T	0.80540	-0.1337	9	0.72032	D	0.01	-20.6792	18.7117	0.91659	0.0:0.0:1.0:0.0	.	173	Q9H5J8	TAF1D_HUMAN	V	173	.	ENSP00000314971:L173V	L	-	1	2	TAF1D	93109996	1.000000	0.71417	0.997000	0.53966	0.683000	0.39861	5.985000	0.70556	2.712000	0.92718	0.650000	0.86243	CTG		0.299	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2		NM_024116	
TAF4B	6875	hgsc.bcm.edu;ucsc.edu	37	18	23969945	23969945	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr18:23969945C>T	ENST00000269142.5	+	15	3556	c.2558C>T	c.(2557-2559)tCt>tTt	p.S853F	TAF4B_ENST00000578121.1_Missense_Mutation_p.S858F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	853	Required for interaction with TAF12.				gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ATGAAGTATTCTCGAGCTCTA	0.468																																																	0													128.0	126.0	127.0					18																	23969945		1918	4127	6045	SO:0001583	missense	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2558C>T	18.37:g.23969945C>T	ENSP00000269142:p.Ser853Phe		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881948	0.33255	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	T	0.51071	0.72	5.71	4.83	0.62350	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.963	T	0.76291	-0.3013	10	0.87932	D	0	-12.2244	16.0234	0.80516	0.1354:0.8646:0.0:0.0	.	853;858	Q92750;A4PBF7	TAF4B_HUMAN;.	F	856;853	ENSP00000269142:S853F	ENSP00000269142:S853F	S	+	2	0	TAF4B	22223943	1.000000	0.71417	0.037000	0.18230	0.938000	0.57974	5.677000	0.68142	1.391000	0.46566	0.644000	0.83932	TCT		0.468	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3		NM_005640	
TET2	54790	hgsc.bcm.edu	37	4	106190890	106190890	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr4:106190890A>C	ENST00000540549.1	+	9	5028	c.4168A>C	c.(4168-4170)Aat>Cat	p.N1390H	TET2_ENST00000513237.1_Missense_Mutation_p.N1411H|TET2_ENST00000380013.4_Missense_Mutation_p.N1390H|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1390					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.N1390fs*59(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAACATGCAGAATGGCAGCAC	0.488			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											70.0	61.0	64.0					4																	106190890		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4168A>C	4.37:g.106190890A>C	ENSP00000442788:p.Asn1390His		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098338	0.76870	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.15952	2.38;2.38;2.38	5.62	5.62	0.85841	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.47764	0.1463	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54906	-0.8223	9	0.87932	D	0	-14.1239	15.8317	0.78757	1.0:0.0:0.0:0.0	.	1411;1390	E7EQS8;Q6N021	.;TET2_HUMAN	H	1390;1411;1390	ENSP00000442788:N1390H;ENSP00000425443:N1411H;ENSP00000369351:N1390H	ENSP00000369351:N1390H	N	+	1	0	TET2	106410339	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	6.061000	0.71148	2.152000	0.67230	0.533000	0.62120	AAT		0.488	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628	
TEX14	56155	hgsc.bcm.edu	37	17	56638928	56638928	+	Silent	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:56638928T>A	ENST00000240361.8	-	30	4333	c.4248A>T	c.(4246-4248)ccA>ccT	p.P1416P	TEX14_ENST00000389934.3_Silent_p.P1410P|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000349033.5_Silent_p.P1370P			Q8IWB6	TEX14_HUMAN	testis expressed 14	1416					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCCTCAGGTGGCTGCAGCC	0.498																																																	0													143.0	138.0	140.0					17																	56638928		2203	4300	6503	SO:0001819	synonymous_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4248A>T	17.37:g.56638928T>A			A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.498	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			
TM7SF3	51768	hgsc.bcm.edu;ucsc.edu	37	12	27152583	27152583	+	Silent	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:27152583T>A	ENST00000343028.4	-	3	498	c.273A>T	c.(271-273)acA>acT	p.T91T	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGGCAGTGCCTGTTTCCGAGG	0.468																																																	0													121.0	110.0	114.0					12																	27152583		2203	4300	6503	SO:0001819	synonymous_variant	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.273A>T	12.37:g.27152583T>A			B3KMZ3|Q9NUS4	Silent	SNP	ENST00000343028.4	37	CCDS8710.1																																																																																				0.468	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1		NM_016551	
TPO	7173	hgsc.bcm.edu	37	2	1488398	1488398	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:1488398A>T	ENST00000345913.4	+	9	1460	c.1369A>T	c.(1369-1371)Atc>Ttc	p.I457F	TPO_ENST00000346956.3_Missense_Mutation_p.I457F|TPO_ENST00000382201.3_Missense_Mutation_p.I457F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.I457F|TPO_ENST00000349624.3_Missense_Mutation_p.I284F|TPO_ENST00000382198.1_Missense_Mutation_p.I284F|TPO_ENST00000329066.4_Missense_Mutation_p.I457F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	457					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CATCCCCAGGATCCTGGGACC	0.587																																																	0													60.0	56.0	58.0					2																	1488398		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1369A>T	2.37:g.1488398A>T	ENSP00000318820:p.Ile457Phe		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.88|13.88	2.368400|2.368400	0.42003|0.42003	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.|T;T;T;T;T;T;T;T	.|0.76839	.|-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.3|5.3	2.89|2.89	0.33648|0.33648	.|.	.|0.149220	.|0.64402	.|D	.|0.000011	D|D	0.83857|0.83857	0.5345|0.5345	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.997;1.0;0.997;1.0	.|D;D;D;D	.|0.76071	.|0.951;0.982;0.964;0.987	T|T	0.82394|0.82394	-0.0479|-0.0479	6|10	0.54805|0.87932	T|D	0.06|0	-27.5985|-27.5985	9.0734|9.0734	0.36506|0.36506	0.8436:0.0:0.1564:0.0|0.8436:0.0:0.1564:0.0	.|.	.|457;284;457;457	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	V|F	140|457;457;457;284;457;457;284;386	.|ENSP00000337263:I457F;ENSP00000318820:I457F;ENSP00000263886:I457F;ENSP00000332044:I284F;ENSP00000329869:I457F;ENSP00000371636:I457F;ENSP00000371633:I284F;ENSP00000405788:I386F	ENSP00000439133:D140V|ENSP00000329869:I457F	D|I	+|+	2|1	0|0	TPO|TPO	1467405|1467405	1.000000|1.000000	0.71417|0.71417	0.470000|0.470000	0.27216|0.27216	0.118000|0.118000	0.20060|0.20060	4.995000|4.995000	0.63908|0.63908	0.317000|0.317000	0.23160|0.23160	-0.386000|-0.386000	0.06593|0.06593	GAT|ATC		0.587	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547	
TRPC5	7224	hgsc.bcm.edu	37	X	111090368	111090368	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chrX:111090368A>C	ENST00000262839.2	-	6	2592	c.1674T>G	c.(1672-1674)tgT>tgG	p.C558W		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	558					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTGTTTCTCACATCGGATCC	0.408																																																	0													164.0	136.0	145.0					X																	111090368		2203	4300	6503	SO:0001583	missense	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1674T>G	X.37:g.111090368A>C	ENSP00000262839:p.Cys558Trp		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986455	0.53934	.	.	ENSG00000072315	ENST00000262839	D	0.98280	-4.84	5.36	4.13	0.48395	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98782	0.9590	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.98552	1.0637	10	0.87932	D	0	-12.8118	7.2209	0.25985	0.7364:0.0:0.2636:0.0	.	559;558	Q59G51;Q9UL62	.;TRPC5_HUMAN	W	558	ENSP00000262839:C558W	ENSP00000262839:C558W	C	-	3	2	TRPC5	110977024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.729000	0.47327	0.631000	0.30412	0.356000	0.21956	TGT		0.408	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1		NM_012471	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191507	10191507	+	Missense_Mutation	SNP	G	G	A	rs5030821		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr3:10191507G>A	ENST00000256474.2	+	3	1340	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.R126Q	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	167			R -> G (in VHLD; type I-II). {ECO:0000269|PubMed:9829911}.|R -> Q (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|R -> W (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8592333, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R167Q(4)|p.V166fs*6(1)|p.S168fs*2(1)|p.R167fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGGTTGTCCGGAGCCTAGTC	0.512		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	7	Substitution - Missense(4)|Deletion - Frameshift(3)	kidney(7)	GRCh37	CM941382	VHL	M	rs5030821						91.0	83.0	85.0					3																	10191507		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.500G>A	3.37:g.10191507G>A	ENSP00000256474:p.Arg167Gln		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038474	0.93630	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99826	-6.98;-6.98	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	M	0.68952	2.095	0.43782	A	0.996316	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.97037	0.9754	9	0.62326	D	0.03	-6.8035	15.8663	0.79067	0.0:0.0:1.0:0.0	rs5030821	126;167	P40337-2;P40337	.;VHL_HUMAN	Q	167;126;85	ENSP00000256474:R167Q;ENSP00000344757:R126Q	ENSP00000256474:R167Q	R	+	2	0	VHL	10166507	1.000000	0.71417	0.896000	0.35187	0.797000	0.45037	7.062000	0.76706	2.676000	0.91093	0.655000	0.94253	CGG		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF596	169270	hgsc.bcm.edu;ucsc.edu	37	8	195379	195380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr8:195379_195380insA	ENST00000398612.1	+	6	915_916	c.532_533insA	c.(532-534)caafs	p.Q178fs	ZNF596_ENST00000308811.4_Frame_Shift_Ins_p.Q178fs|ZNF596_ENST00000320552.2_Frame_Shift_Ins_p.Q108fs	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGCCTTTATCCAAAACTCTGCC	0.371																																																	0																																										SO:0001589	frameshift_variant	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.536dupA	8.37:g.195383_195383dupA	ENSP00000381613:p.Gln178fs		B2R8P4|O95015|Q8N9X0	Frame_Shift_Ins	INS	ENST00000398612.1	37	CCDS5951.2																																																																																				0.371	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4		NM_173539	
ZNF680	340252	hgsc.bcm.edu;ucsc.edu	37	7	63982483	63982483	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:63982483T>C	ENST00000309683.6	-	4	800	c.649A>G	c.(649-651)Aaa>Gaa	p.K217E	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTAAGAACTTTGCCACATTCC	0.358																																																	0													64.0	65.0	65.0					7																	63982483		2203	4299	6502	SO:0001583	missense	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.649A>G	7.37:g.63982483T>C	ENSP00000309330:p.Lys217Glu		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	t	17.19	3.327090	0.60743	.	.	ENSG00000173041	ENST00000309683	T	0.21543	2.0	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32194	0.0821	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.58577	0.841	T	0.09465	-1.0673	9	0.62326	D	0.03	.	4.7382	0.12999	0.0:0.0:0.0:1.0	.	217	Q8NEM1	ZN680_HUMAN	E	217	ENSP00000309330:K217E	ENSP00000309330:K217E	K	-	1	0	ZNF680	63619918	0.826000	0.29277	0.148000	0.22405	0.218000	0.24690	2.157000	0.42320	0.588000	0.29660	0.402000	0.26972	AAA		0.358	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1		NM_178558	
ZNF831	128611	hgsc.bcm.edu	37	20	57782032	57782032	+	Silent	SNP	A	A	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:57782032A>G	ENST00000371030.2	+	3	3948	c.3948A>G	c.(3946-3948)cgA>cgG	p.R1316R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1316							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTGGGTGCGAAGAAGAAGCC	0.537																																																	0													77.0	83.0	81.0					20																	57782032		1941	4141	6082	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3948A>G	20.37:g.57782032A>G			Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.537	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457	
