#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
ACOX2	8309	hgsc.bcm.edu	37	3	58512375	58512375	+	Silent	SNP	T	T	C	rs1127743	byFrequency	TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:58512375T>C	ENST00000302819.5	-	10	1455	c.1164A>G	c.(1162-1164)gcA>gcG	p.A388A	ACOX2_ENST00000459701.2_Silent_p.A374A	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	388					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCGTGCTCAGTGCGTGGAGCT	0.592													T|||	818	0.163339	0.3041	0.1066	5008	,	,		19469	0.2282		0.0427	False		,,,				2504	0.0706																0								T		1245,3161	427.6+/-341.6	171,903,1129	72.0	67.0	69.0		1164	-2.9	0.6	3	dbSNP_86	69	444,8156	134.1+/-191.5	10,424,3866	yes	coding-synonymous	ACOX2	NM_003500.3		181,1327,4995	CC,CT,TT		5.1628,28.2569,12.9863		388/682	58512375	1689,11317	2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1164A>G	3.37:g.58512375T>C			A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	CCDS33775.1																																																																																				0.592	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			
ACTRT1	139741	hgsc.bcm.edu;ucsc.edu	37	X	127185831	127185831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chrX:127185831G>A	ENST00000371124.3	-	1	551	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGCTTTTCTCGAATTTCCCTA	0.493																																																	0													230.0	219.0	222.0					X																	127185831		2203	4300	6503	SO:0001587	stop_gained	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.355C>T	X.37:g.127185831G>A	ENSP00000360165:p.Arg119*		Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434129	0.43224	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.76	-1.72	0.08107	.	0.118284	0.36066	N	0.002818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.9993	0.36072	0.0:0.1325:0.1935:0.674	.	.	.	.	X	119	.	ENSP00000360165:R119X	R	-	1	2	ACTRT1	127013512	0.995000	0.38212	0.003000	0.11579	0.034000	0.12701	0.291000	0.18994	-0.560000	0.06102	0.544000	0.68410	CGA		0.493	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1		NM_138289	
AGL	178	hgsc.bcm.edu;ucsc.edu	37	1	100343224	100343225	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr1:100343224_100343225insTA	ENST00000294724.4	+	12	1929_1930	c.1451_1452insTA	c.(1450-1455)cttattfs	p.LI484fs	AGL_ENST00000370161.2_Frame_Shift_Ins_p.LI468fs|AGL_ENST00000370165.3_Frame_Shift_Ins_p.LI484fs|AGL_ENST00000370163.3_Frame_Shift_Ins_p.LI484fs|AGL_ENST00000361522.4_Frame_Shift_Ins_p.LI467fs|AGL_ENST00000361302.3_Frame_Shift_Ins_p.LI468fs|AGL_ENST00000361915.3_Frame_Shift_Ins_p.LI484fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	484					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGGAGAGAACTTATTTGCTGGG	0.366																																																	0																																										SO:0001589	frameshift_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1452_1453dupTA	1.37:g.100343225_100343226dupTA	ENSP00000294724:p.Leu484fs		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Ins	INS	ENST00000294724.4	37	CCDS759.1																																																																																				0.366	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028	
AKR1B1	231	hgsc.bcm.edu	37	7	134136494	134136494	+	Silent	SNP	C	C	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr7:134136494C>A	ENST00000285930.4	-	2	157	c.78G>T	c.(76-78)ggG>ggT	p.G26G	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	26					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	CAGTCACCTGCCCTGGAGGGG	0.602																																																	0													44.0	39.0	41.0					7																	134136494		2203	4300	6503	SO:0001819	synonymous_variant	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.78G>T	7.37:g.134136494C>A			B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	37	CCDS5831.1																																																																																				0.602	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2		NM_001628	
ARHGAP8	23779	hgsc.bcm.edu	37	22	45255656	45255656	+	Missense_Mutation	SNP	G	G	T	rs148303608		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr22:45255656G>T	ENST00000389774.2	+	12	1157	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	ARHGAP8_ENST00000336963.4_Intron|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.R308L|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.R430L|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.R518L|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.R439L|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.R518L	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	339	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CAGATCTTACGGAGCCTCCCA	0.667																																																	0													79.0	67.0	71.0					22																	45255656		2203	4300	6503	SO:0001583	missense	23779			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.1016G>T	22.37:g.45255656G>T	ENSP00000374424:p.Arg339Leu		A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.210|8.210	0.800167|0.800167	0.16397|0.16397	.|.	.|.	ENSG00000248405|ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000515632|ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000356099	.|T;T;T;T;T;T	.|0.19394	.|2.15;2.15;2.15;2.15;2.15;2.15	4.14|4.14	-4.12|-4.12	0.03916|0.03916	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|1.671310	.|0.04113	.|U	.|0.314876	.|T	.|0.09158	.|0.0226	N|N	0.05510|0.05510	-0.035|-0.035	0.09310|0.09310	N|N	1|1	.|B;P;B;B;B	.|0.38992	.|0.082;0.653;0.011;0.025;0.166	.|B;B;B;B;B	.|0.32583	.|0.048;0.148;0.048;0.048;0.069	.|T	.|0.26744	.|-1.0094	.|10	.|0.42905	.|T	.|0.14	.|.	7.4653|7.4653	0.27318|0.27318	0.6815:0.1162:0.2023:0.0|0.6815:0.1162:0.2023:0.0	.|.	.|361;344;339;518;439	.|B7ZMA4;A2RU51;P85298;B1AHC4;B1AHC3	.|.;.;RHG08_HUMAN;.;.	X|L	379|439;518;518;430;339;308	.|ENSP00000354732:R439L;ENSP00000262731:R518L;ENSP00000429240:R518L;ENSP00000374423:R430L;ENSP00000374424:R339L;ENSP00000348407:R308L	.|ENSP00000348407:R308L	G|R	+|+	1|2	0|0	PRR5-ARHGAP8|PRR5-ARHGAP8;ARHGAP8	43634320|43634320	0.000000|0.000000	0.05858|0.05858	0.092000|0.092000	0.20876|0.20876	0.010000|0.010000	0.07245|0.07245	0.557000|0.557000	0.23454|0.23454	-0.403000|-0.403000	0.07622|0.07622	0.467000|0.467000	0.42956|0.42956	GGA|CGG		0.667	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4		NM_017701	
ASB8	140461	hgsc.bcm.edu;ucsc.edu	37	12	48547222	48547222	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:48547222C>T	ENST00000317697.3	-	2	227	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ASB8_ENST00000535055.1_Missense_Mutation_p.E20K|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000539528.1_Missense_Mutation_p.E20K|ASB8_ENST00000540782.1_Missense_Mutation_p.E20K|ASB8_ENST00000535988.1_Missense_Mutation_p.E20K|ASB8_ENST00000536071.1_Missense_Mutation_p.E20K|ASB8_ENST00000536549.1_Missense_Mutation_p.E20K|ASB8_ENST00000536953.1_Missense_Mutation_p.E20K	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	20					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						ATTAAGCGCTCGGAGAGAGAG	0.468																																																	0													172.0	161.0	164.0					12																	48547222		2203	4300	6503	SO:0001583	missense	140461			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.58G>A	12.37:g.48547222C>T	ENSP00000320893:p.Glu20Lys		A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926163	0.73327	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549;ENST00000536953;ENST00000539528;ENST00000535055;ENST00000536071;ENST00000539503;ENST00000545791;ENST00000540212;ENST00000540782;ENST00000535988;ENST00000548228	T;T;T;T;T	0.55930	0.94;0.94;0.64;0.49;0.49	5.34	4.45	0.53987	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	N	0.08118	0	0.80722	D	1	P	0.36199	0.543	B	0.30646	0.118	T	0.09952	-1.0651	10	0.16420	T	0.52	-13.149	13.7243	0.62748	0.0:0.925:0.0:0.075	.	20	Q9H765	ASB8_HUMAN	K	20	ENSP00000320893:E20K;ENSP00000445622:E20K;ENSP00000444093:E20K;ENSP00000437769:E20K;ENSP00000442639:E20K	ENSP00000320893:E20K	E	-	1	0	ASB8	46833489	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	7.123000	0.77176	1.389000	0.46526	0.650000	0.86243	GAG		0.468	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			
BIRC2	329	hgsc.bcm.edu;ucsc.edu	37	11	102239263	102239263	+	Silent	SNP	T	T	C			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr11:102239263T>C	ENST00000227758.2	+	6	2749	c.1350T>C	c.(1348-1350)gcT>gcC	p.A450A	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Silent_p.A429A|BIRC2_ENST00000530675.1_Silent_p.A401A	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	450					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAAAACAAGCTGAAGAAATGG	0.403																																																	0													127.0	134.0	131.0					11																	102239263		2203	4299	6502	SO:0001819	synonymous_variant	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1350T>C	11.37:g.102239263T>C			B4E026|Q16516|Q4TTG0	Silent	SNP	ENST00000227758.2	37	CCDS8316.1																																																																																				0.403	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1		NM_001166	
ELP6	54859	hgsc.bcm.edu;ucsc.edu	37	3	47551730	47551730	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:47551730A>G	ENST00000296149.4	-	3	318	c.148T>C	c.(148-150)Tgc>Cgc	p.C50R	ELP6_ENST00000446787.1_5'UTR|ELP6_ENST00000460502.1_5'Flank|ELP6_ENST00000439305.1_5'UTR	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6	50					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)											GCCACAAAGCAGACTTTACAA	0.403																																																	0													81.0	75.0	77.0					3																	47551730		1860	4103	5963	SO:0001583	missense	0			AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"""Elongator acetyltransferase complex subunits"""	25976	protein-coding gene	gene with protein product		615020	"""transmembrane protein 103"", ""chromosome 3 open reading frame 75"""	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.148T>C	3.37:g.47551730A>G	ENSP00000296149:p.Cys50Arg		Q9BW57|Q9NXJ3	Missense_Mutation	SNP	ENST00000296149.4	37	CCDS43082.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734416	0.69189	.	.	ENSG00000163832	ENST00000296149	.	.	.	5.83	5.83	0.93111	.	0.085303	0.85682	D	0.000000	T	0.79046	0.4380	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.986;0.993	T	0.81769	-0.0781	9	0.72032	D	0.01	-10.552	12.6046	0.56516	1.0:0.0:0.0:0.0	.	50;50	C9JAS1;Q0PNE2	.;CC075_HUMAN	R	50	.	ENSP00000296149:C50R	C	-	1	0	C3orf75	47526734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.589000	0.67523	2.236000	0.73375	0.533000	0.62120	TGC		0.403	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257493.1		NM_017713	
CACNA1S	779	hgsc.bcm.edu	37	1	201058500	201058500	+	Silent	SNP	C	C	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr1:201058500C>A	ENST00000362061.3	-	6	1012	c.786G>T	c.(784-786)cgG>cgT	p.R262R	CACNA1S_ENST00000367338.3_Silent_p.R262R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	262					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCAGCCGCCCCGGCACTCAC	0.627																																																	0													58.0	51.0	53.0					1																	201058500		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.786G>T	1.37:g.201058500C>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.627	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
ACKR2	1238	hgsc.bcm.edu;ucsc.edu	37	3	42906057	42906057	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:42906057C>G	ENST00000422265.1	+	3	238	c.63C>G	c.(61-63)agC>agG	p.S21R	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.S21R|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.S21R|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	21					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										AGAATAGCAGCTTCTATTACT	0.542																																																	0													89.0	84.0	86.0					3																	42906057		2203	4300	6503	SO:0001583	missense	1238			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.63C>G	3.37:g.42906057C>G	ENSP00000416996:p.Ser21Arg		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560299	0.27827	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.54479	0.57;0.57;0.57	4.99	2.24	0.28232	.	5.203640	0.00357	N	0.000032	T	0.62744	0.2453	L	0.59436	1.845	0.80722	D	1	D;D	0.58268	0.964;0.982	P;P	0.53450	0.642;0.726	T	0.43048	-0.9415	9	.	.	.	.	7.2631	0.26214	0.0:0.719:0.0:0.281	.	21;21	O00590;Q7Z7I1	CCBP2_HUMAN;.	R	21	ENSP00000396150:S21R;ENSP00000416996:S21R;ENSP00000273145:S21R	.	S	+	3	2	CCBP2	42881061	0.747000	0.28283	0.834000	0.33040	0.020000	0.10135	0.957000	0.29215	0.166000	0.19597	-0.251000	0.11542	AGC		0.542	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2		NM_001296	
CCDC57	284001	hgsc.bcm.edu	37	17	80130525	80130525	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr17:80130525G>A	ENST00000389641.4	-	11	1754	c.1718C>T	c.(1717-1719)gCc>gTc	p.A573V	CCDC57_ENST00000392347.1_Missense_Mutation_p.A573V|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.A573V			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	573										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGGAGTGGCGGCATCTCCCCC	0.592																																																	0													25.0	29.0	27.0					17																	80130525		1970	4080	6050	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1718C>T	17.37:g.80130525G>A	ENSP00000374292:p.Ala573Val		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.	.	.	.	.	.	.	.	.	.	G	11.86	1.765333	0.31228	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.23950	3.05;3.05;1.88	4.08	3.07	0.35406	.	1.418230	0.04486	N	0.378620	T	0.22205	0.0535	L	0.36672	1.1	0.20489	N	0.999899	B;B	0.25904	0.02;0.137	B;B	0.24155	0.05;0.051	T	0.12785	-1.0534	10	0.30854	T	0.27	0.1194	7.9294	0.29893	0.1187:0.0:0.8813:0.0	.	573;573	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	V	573;573;81;573	ENSP00000374292:A573V;ENSP00000376158:A573V;ENSP00000376154:A573V	ENSP00000315967:A81V	A	-	2	0	CCDC57	77723814	0.004000	0.15560	0.002000	0.10522	0.041000	0.13682	1.401000	0.34589	2.086000	0.62901	0.563000	0.77884	GCC		0.592	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3		NM_198082	
CLCN5	1184	hgsc.bcm.edu;ucsc.edu	37	X	49853520	49853520	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chrX:49853520G>A	ENST00000307367.2	+	9	1804	c.1513G>A	c.(1513-1515)Gtt>Att	p.V505I	CLCN5_ENST00000376108.3_Missense_Mutation_p.V505I|CLCN5_ENST00000376088.3_Missense_Mutation_p.V575I|CLCN5_ENST00000376091.3_Missense_Mutation_p.V575I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	505					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TTATGCAATGGTTGGGGCTGC	0.468																																																	0													90.0	81.0	84.0					X																	49853520		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1513G>A	X.37:g.49853520G>A	ENSP00000304257:p.Val505Ile		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186712	0.94885	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.54	5.54	0.83059	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	L	0.53780	1.695	0.80722	D	1	P;D	0.61697	0.544;0.99	P;D	0.73380	0.474;0.98	D	0.94754	0.7930	10	0.38643	T	0.18	-16.0045	17.459	0.87615	0.0:0.0:1.0:0.0	.	505;575	P51795;P51795-2	CLCN5_HUMAN;.	I	575;407;575;505;505	ENSP00000365256:V575I;ENSP00000365259:V575I;ENSP00000365276:V505I;ENSP00000304257:V505I	ENSP00000304257:V505I	V	+	1	0	CLCN5	49740260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.592000	0.98245	2.480000	0.83734	0.523000	0.50628	GTT		0.468	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			
CLIP1	6249	hgsc.bcm.edu;ucsc.edu	37	12	122812845	122812845	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:122812845T>A	ENST00000540338.1	-	15	3037	c.2996A>T	c.(2995-2997)gAa>gTa	p.E999V	CLIP1_ENST00000537178.1_Missense_Mutation_p.E953V|CLIP1_ENST00000545889.1_Missense_Mutation_p.E574V|CLIP1_ENST00000302528.7_Missense_Mutation_p.E988V|CLIP1_ENST00000358808.2_Missense_Mutation_p.E988V|CLIP1_ENST00000361654.4_Missense_Mutation_p.E877V			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	999					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTCTTTTCTTCCTCATGCTT	0.448																																																	0													281.0	277.0	278.0					12																	122812845		2203	4300	6503	SO:0001583	missense	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2996A>T	12.37:g.122812845T>A	ENSP00000439093:p.Glu999Val		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812482	0.50527	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.55760	2.57;0.5;0.5;0.57;0.55	5.25	4.08	0.47627	.	0.348665	0.31113	N	0.008236	T	0.49167	0.1541	M	0.69823	2.125	0.42842	D	0.994059	B;B;B	0.33940	0.433;0.294;0.306	B;B;B	0.32980	0.156;0.156;0.075	T	0.51220	-0.8733	10	0.59425	D	0.04	-11.5727	7.8973	0.29715	0.0:0.0745:0.1371:0.7885	.	953;988;999	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	V	574;988;988;718;30;953;999	ENSP00000438743:E574V;ENSP00000303585:E988V;ENSP00000351665:E988V;ENSP00000445531:E953V;ENSP00000439093:E999V	ENSP00000303585:E988V	E	-	2	0	CLIP1	121378798	0.841000	0.29509	0.993000	0.49108	0.984000	0.73092	1.287000	0.33284	0.907000	0.36646	0.459000	0.35465	GAA		0.448	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	
DHRS2	10202	hgsc.bcm.edu	37	14	24108525	24108525	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr14:24108525A>G	ENST00000250383.6	+	3	754	c.278A>G	c.(277-279)cAc>cGc	p.H93R	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.H93R	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	93					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ATTGTGTGCCACGTGGGGAAG	0.657																																																	0													28.0	32.0	31.0					14																	24108525		2201	4299	6500	SO:0001583	missense	10202				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.278A>G	14.37:g.24108525A>G	ENSP00000250383:p.His93Arg		D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	15.20	2.763056	0.49574	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.21734	1.99;1.99;1.99	5.05	1.29	0.21616	NAD(P)-binding domain (1);	0.050422	0.85682	D	0.000000	T	0.35624	0.0938	L	0.60455	1.87	0.47374	D	0.999401	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.997;0.996;0.999;0.952	T	0.04723	-1.0931	10	0.87932	D	0	.	6.3812	0.21536	0.6166:0.3017:0.0817:0.0	.	71;93;93;71	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	R	93	ENSP00000401213:H93R;ENSP00000250383:H93R;ENSP00000344674:H93R	ENSP00000250383:H93R	H	+	2	0	DHRS2	23178365	0.999000	0.42202	0.971000	0.41717	0.011000	0.07611	4.235000	0.58666	0.065000	0.16485	0.402000	0.26972	CAC		0.657	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2		NM_182908	
DPM2	8818	hgsc.bcm.edu;ucsc.edu	37	9	130698858	130698858	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr9:130698858G>A	ENST00000314392.8	-	3	833	c.170C>T	c.(169-171)gCa>gTa	p.A57V	RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|DPM2_ENST00000373110.4_Missense_Mutation_p.A57V|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	57					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						CAGGAGGCCTGCAGCCAGTGG	0.582																																																	0													183.0	140.0	154.0					9																	130698858		2203	4300	6503	SO:0001583	missense	8818			AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.170C>T	9.37:g.130698858G>A	ENSP00000322181:p.Ala57Val		Q5XKK9|Q6FGH3	Missense_Mutation	SNP	ENST00000314392.8	37	CCDS6886.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.414618	0.01145	.	.	ENSG00000136908	ENST00000314392;ENST00000373110	T;T	0.64803	-0.12;-0.12	5.68	1.28	0.21552	.	0.109203	0.64402	N	0.000009	T	0.42471	0.1204	.	.	.	0.24276	N	0.995229	B	0.16166	0.016	B	0.16722	0.016	T	0.19712	-1.0297	9	0.26408	T	0.33	-6.8852	7.1609	0.25662	0.424:0.0:0.576:0.0	.	57	O94777	DPM2_HUMAN	V	57	ENSP00000322181:A57V;ENSP00000362202:A57V	ENSP00000322181:A57V	A	-	2	0	DPM2	129738679	0.398000	0.25279	0.003000	0.11579	0.012000	0.07955	1.223000	0.32527	0.196000	0.20367	-0.367000	0.07326	GCA		0.582	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054324.1		NM_003863	
EDNRA	1909	hgsc.bcm.edu;ucsc.edu	37	4	148463689	148463689	+	Silent	SNP	C	C	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr4:148463689C>T	ENST00000324300.5	+	8	1718	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	EDNRA_ENST00000358556.4_Silent_p.N292N|EDNRA_ENST00000506066.1_Silent_p.N292N|EDNRA_ENST00000511804.1_Silent_p.N176N|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	401					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TCCCCATGAACGGAACAAGCA	0.532																																																	0													191.0	169.0	176.0					4																	148463689		2203	4300	6503	SO:0001819	synonymous_variant	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.1203C>T	4.37:g.148463689C>T			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	CCDS3769.1																																																																																				0.532	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			
EHBP1	23301	hgsc.bcm.edu;ucsc.edu	37	2	63175596	63175596	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr2:63175596G>A	ENST00000263991.5	+	14	2202	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	EHBP1_ENST00000405015.3_Missense_Mutation_p.D539N|EHBP1_ENST00000354487.3_Missense_Mutation_p.D539N|EHBP1_ENST00000405289.1_Missense_Mutation_p.D539N|EHBP1_ENST00000431489.1_Missense_Mutation_p.D539N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	574						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CTATGAAACAGATACAAACAG	0.398																																																	0													69.0	69.0	69.0					2																	63175596		2203	4300	6503	SO:0001583	missense	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1720G>A	2.37:g.63175596G>A	ENSP00000263991:p.Asp574Asn		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044821	0.75732	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.77229	-1.07;-1.07;-1.08;-1.06;-1.06	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	N	0.19112	0.55	0.80722	D	1	D;B;D	0.76494	0.999;0.197;0.998	D;B;D	0.87578	0.998;0.062;0.995	T	0.77913	-0.2410	10	0.30078	T	0.28	.	14.4764	0.67548	0.0703:0.0:0.9297:0.0	.	539;539;574	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	N	539;539;574;539;539	ENSP00000384143:D539N;ENSP00000403783:D539N;ENSP00000263991:D574N;ENSP00000346482:D539N;ENSP00000385524:D539N	ENSP00000263991:D574N	D	+	1	0	EHBP1	63029100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	1.423000	0.47198	0.655000	0.94253	GAT		0.398	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1		NM_015252	
GOLGB1	2804	hgsc.bcm.edu;ucsc.edu	37	3	121415214	121415214	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:121415214T>A	ENST00000340645.5	-	13	4266	c.4141A>T	c.(4141-4143)Att>Ttt	p.I1381F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I1386F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1381					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGCCAGCAATTTGTAGTTGG	0.418																																																	0													159.0	164.0	162.0					3																	121415214		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4141A>T	3.37:g.121415214T>A	ENSP00000341848:p.Ile1381Phe		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625141	0.28889	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.24908	2.38;2.38;1.83	6.17	2.47	0.30058	.	0.222757	0.31519	N	0.007511	T	0.25044	0.0608	L	0.60455	1.87	0.31317	N	0.686472	D;D;P;P;P	0.53151	0.958;0.958;0.919;0.919;0.589	P;P;P;P;B	0.45506	0.483;0.483;0.483;0.483;0.162	T	0.20806	-1.0264	10	0.31617	T	0.26	.	7.3555	0.26717	0.0:0.2439:0.0:0.7561	.	1306;1345;1386;1386;1381	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	F	1381;1386;1345	ENSP00000341848:I1381F;ENSP00000377275:I1386F;ENSP00000418231:I1345F	ENSP00000341848:I1381F	I	-	1	0	GOLGB1	122897904	0.000000	0.05858	0.954000	0.39281	0.679000	0.39708	-0.376000	0.07465	0.528000	0.28580	0.533000	0.62120	ATT		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487	
GRB7	2886	hgsc.bcm.edu	37	17	37903011	37903011	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr17:37903011A>C	ENST00000309156.4	+	15	1717	c.1460A>C	c.(1459-1461)gAg>gCg	p.E487A	GRB7_ENST00000394209.2_Missense_Mutation_p.E487A|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.E487A|GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000445327.2_Missense_Mutation_p.E510A	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	487	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGAGCGAGGAGGAGGGCCGC	0.627																																																	0													84.0	74.0	78.0					17																	37903011		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1460A>C	17.37:g.37903011A>C	ENSP00000310771:p.Glu487Ala		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.915172	0.52546	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.89	2.58	0.30949	SH2 motif (4);	0.398328	0.27826	N	0.017687	T	0.35537	0.0935	L	0.44542	1.39	0.80722	D	1	B	0.02656	0.0	B	0.22386	0.039	T	0.17048	-1.0382	10	0.66056	D	0.02	-8.7022	10.8618	0.46831	0.6986:0.3014:0.0:0.0	.	487	Q14451	GRB7_HUMAN	A	487;487;487;510	ENSP00000310771:E487A;ENSP00000377761:E487A;ENSP00000377759:E487A;ENSP00000403459:E510A	ENSP00000310771:E487A	E	+	2	0	GRB7	35156537	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.474000	0.60203	0.319000	0.23209	0.533000	0.62120	GAG		0.627	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2		NM_005310	
ARHGAP35	2909	hgsc.bcm.edu;ucsc.edu	37	19	47424564	47424564	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr19:47424564C>A	ENST00000404338.3	+	1	2632	c.2632C>A	c.(2632-2634)Cag>Aag	p.Q878K		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	878					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TTGTGAAGTGCAGGATATTAT	0.453																																																	0													127.0	124.0	125.0					19																	47424564		1955	4159	6114	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2632C>A	19.37:g.47424564C>A	ENSP00000385720:p.Gln878Lys		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319828	0.60634	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.43294	0.95	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.45137	1.4	0.80722	D	1	P	0.49961	0.93	P	0.45037	0.467	T	0.11842	-1.0571	10	0.29301	T	0.29	-30.094	18.8035	0.92028	0.0:1.0:0.0:0.0	.	878	Q9NRY4-2	.	K	878	ENSP00000385720:Q878K	ENSP00000324820:Q878K	Q	+	1	0	ARHGAP35	52116404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.743000	0.94032	0.655000	0.94253	CAG		0.453	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491	
IFT172	26160	hgsc.bcm.edu;ucsc.edu	37	2	27671791	27671791	+	Silent	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr2:27671791A>G	ENST00000260570.3	-	40	4522	c.4419T>C	c.(4417-4419)gcT>gcC	p.A1473A		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1473					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTGTGGGTTAGCAGGGGCTC	0.502																																																	0													115.0	114.0	114.0					2																	27671791		2203	4300	6503	SO:0001819	synonymous_variant	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4419T>C	2.37:g.27671791A>G			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																				0.502	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2		NM_015662	
KRT76	51350	hgsc.bcm.edu	37	12	53162773	53162773	+	Silent	SNP	A	A	G	rs1464423|rs370657661|rs576463918|rs201384439	byFrequency	TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:53162773A>G	ENST00000332411.2	-	9	1694	c.1641T>C	c.(1639-1641)agT>agC	p.S547S		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	547	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S547_G548insS(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ctccatagccactgctgctgc	0.637													a|||	3905	0.779752	0.6241	0.8804	5008	,	,		15053	0.9028		0.8926	False		,,,				2504	0.6759																1	Insertion - In frame(1)	prostate(1)						G		2734,1470		944,846,312	14.0	11.0	12.0		1641	-0.6	0.0	12	dbSNP_88	12	7205,1029		3202,801,114	no	coding-synonymous	KRT76	NM_015848.4		4146,1647,426	GG,GA,AA		12.497,34.9667,20.0917		547/639	53162773	9939,2499	2102	4117	6219	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1641T>C	12.37:g.53162773A>G			B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	CCDS8838.1																																																																																				0.637	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1		NM_015848	
KRT4	3851	hgsc.bcm.edu	37	12	53207576	53207576	+	Missense_Mutation	SNP	A	A	T	rs372168510	byFrequency	TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:53207576A>T	ENST00000551956.1	-	1	759	c.267T>A	c.(265-267)ttT>ttA	p.F89L	KRT4_ENST00000458244.2_Missense_Mutation_p.F69L|KRT4_ENST00000293774.4_Missense_Mutation_p.F163L			P19013	K2C4_HUMAN	keratin 4	89	Gly-rich.|Head.		Missing (in allele K4B). {ECO:0000269|PubMed:16541075, ECO:0000269|PubMed:7684424}.		cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGGAGCCCCCAAATCCACCAC	0.617																																					Pancreas(190;284 2995 41444 45903)												0													42.0	57.0	52.0					12																	53207576		2117	4258	6375	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.267T>A	12.37:g.53207576A>T	ENSP00000448220:p.Phe89Leu		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554656	0.27739	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.89681	-1.99;-1.99;-2.55	5.14	-2.97	0.05530	.	0.286130	0.25430	N	0.030721	T	0.79464	0.4450	L	0.48218	1.51	0.22911	N	0.998574	B	0.06786	0.001	B	0.06405	0.002	T	0.62647	-0.6810	10	0.11794	T	0.64	.	8.6177	0.33842	0.3759:0.1244:0.4997:0.0	.	103	P19013	K2C4_HUMAN	L	89;163;69	ENSP00000448220:F89L;ENSP00000293774:F163L;ENSP00000387904:F69L	ENSP00000293774:F163L	F	-	3	2	KRT4	51493843	0.000000	0.05858	0.895000	0.35142	0.416000	0.31233	-0.848000	0.04326	-0.378000	0.07918	-0.361000	0.07541	TTT		0.617	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1		NM_002272	
MAGI3	260425	hgsc.bcm.edu;ucsc.edu	37	1	114157263	114157263	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr1:114157263T>A	ENST00000307546.9	+	7	1134	c.1059T>A	c.(1057-1059)taT>taA	p.Y353*	MAGI3_ENST00000369615.1_Nonsense_Mutation_p.Y353*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Y353*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Y353*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	353	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCTCAGTATGGGACATACT	0.358																																																	0													108.0	114.0	112.0					1																	114157263		2203	4300	6503	SO:0001587	stop_gained	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1059T>A	1.37:g.114157263T>A	ENSP00000304604:p.Tyr353*		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	T	38	7.225246	0.98146	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.77	2.17	0.27698	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.9265	9.7861	0.40677	0.0:0.199:0.0:0.801	.	.	.	.	X	353	.	ENSP00000304604:Y353X	Y	+	3	2	MAGI3	113958786	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.415000	0.21181	0.465000	0.27167	0.533000	0.62120	TAT		0.358	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900	
MGEA5	10724	hgsc.bcm.edu	37	10	103547234	103547234	+	Missense_Mutation	SNP	G	G	T	rs369274136		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr10:103547234G>T	ENST00000361464.3	-	15	2896	c.2501C>A	c.(2500-2502)aCt>aAt	p.T834N	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.T781N|MGEA5_ENST00000357797.5_Missense_Mutation_p.T767N	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	834					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AGCAAGGAAAGTTTCTGGCAG	0.373																																																	0													144.0	143.0	143.0					10																	103547234		2203	4300	6503	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2501C>A	10.37:g.103547234G>T	ENSP00000354850:p.Thr834Asn		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379652	0.42207	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797	T;T;T	0.30182	1.55;1.54;1.54	5.63	5.63	0.86233	Acyl-CoA N-acyltransferase (2);	0.047665	0.85682	D	0.000000	T	0.14787	0.0357	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.19811	-1.0294	10	0.14656	T	0.56	-5.9963	20.0959	0.97842	0.0:0.0:1.0:0.0	.	781;767;834	E9PGF9;O60502-2;O60502	.;.;NCOAT_HUMAN	N	781;834;767	ENSP00000409973:T781N;ENSP00000354850:T834N;ENSP00000350445:T767N	ENSP00000350445:T767N	T	-	2	0	MGEA5	103537224	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.416000	0.97383	2.819000	0.97034	0.650000	0.86243	ACT		0.373	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1		NM_012215	
KMT2C	58508	hgsc.bcm.edu;ucsc.edu	37	7	151882665	151882665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr7:151882665G>T	ENST00000262189.6	-	34	5278	c.5060C>A	c.(5059-5061)tCa>tAa	p.S1687*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1687*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1687					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTTTCTTGTGAGCTTGCTTT	0.328																																																	0													151.0	130.0	137.0					7																	151882665		2202	4300	6502	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5060C>A	7.37:g.151882665G>T	ENSP00000262189:p.Ser1687*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	47	13.303067	0.99733	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.03	5.03	0.67393	.	0.000000	0.40818	N	0.001017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3905	0.90481	0.0:0.0:1.0:0.0	.	.	.	.	X	1687	.	ENSP00000262189:S1687X	S	-	2	0	MLL3	151513598	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.675000	0.98638	2.330000	0.79161	0.643000	0.83706	TCA		0.328	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			
MSRB3	253827	hgsc.bcm.edu;ucsc.edu	37	12	65856991	65856991	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:65856991A>T	ENST00000355192.3	+	6	594	c.468A>T	c.(466-468)agA>agT	p.R156S	MSRB3_ENST00000535664.1_Missense_Mutation_p.R149S|MSRB3_ENST00000308259.5_Missense_Mutation_p.R149S	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	156					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTGGGAAAAGATACTGCATAA	0.537																																																	0													161.0	143.0	149.0					12																	65856991		2203	4300	6503	SO:0001583	missense	253827			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.468A>T	12.37:g.65856991A>T	ENSP00000347324:p.Arg156Ser		B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589958	0.86851	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.000000	0.85682	D	0.000000	D	0.95459	0.8525	H	0.99090	4.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96375	0.9277	9	.	.	.	-0.7053	11.0014	0.47607	0.9217:0.0:0.0783:0.0	.	156;149	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	S	156;149;149;149	ENSP00000347324:R156S;ENSP00000312274:R149S;ENSP00000441650:R149S;ENSP00000445843:R149S	.	R	+	3	2	MSRB3	64143258	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.079000	0.50104	2.330000	0.79161	0.533000	0.62120	AGA		0.537	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1		NM_198080	
MTHFD1	4522	hgsc.bcm.edu	37	14	64891605	64891605	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr14:64891605G>T	ENST00000545908.1	+	9	1208	c.979G>T	c.(979-981)Gtt>Ttt	p.V327F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V271F|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	271	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CATCACTCCTGTTCCTGGCGG	0.473																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												0													112.0	89.0	97.0					14																	64891605		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.979G>T	14.37:g.64891605G>T	ENSP00000438588:p.Val327Phe		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.204198	0.79127	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.89	5.89	0.94794	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91506	0.7318	H	0.99949	5.025	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.951;0.958;0.98	D	0.95281	0.8386	10	0.87932	D	0	-25.3332	18.5149	0.90933	0.0:0.0:1.0:0.0	.	327;271;271	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	F	327;271;327;251	ENSP00000438588:V327F;ENSP00000450560:V271F;ENSP00000216605:V327F;ENSP00000451309:V251F	ENSP00000216605:V271F	V	+	1	0	MTHFD1	63961358	1.000000	0.71417	0.993000	0.49108	0.261000	0.26267	9.793000	0.99091	2.822000	0.97130	0.650000	0.86243	GTT		0.473	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			
KAT6B	23522	hgsc.bcm.edu;ucsc.edu	37	10	76788758	76788758	+	Silent	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr10:76788758A>G	ENST00000287239.4	+	18	4665	c.4176A>G	c.(4174-4176)gaA>gaG	p.E1392E	KAT6B_ENST00000372711.1_Silent_p.E1209E|KAT6B_ENST00000372714.1_Silent_p.E1100E|KAT6B_ENST00000372725.1_Silent_p.E1100E|KAT6B_ENST00000372724.1_Silent_p.E1100E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1392					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AAAAAGAGGAACCAGAAATCT	0.463																																																	0													73.0	72.0	72.0					10																	76788758		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4176A>G	10.37:g.76788758A>G			O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	CCDS7345.1																																																																																				0.463	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1		NM_012330	
NFXL1	152518	hgsc.bcm.edu;ucsc.edu	37	4	47892656	47892656	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr4:47892656T>G	ENST00000507489.1	-	12	1693	c.1517A>C	c.(1516-1518)cAt>cCt	p.H506P	NFXL1_ENST00000381538.3_Missense_Mutation_p.H506P|NFXL1_ENST00000329043.3_Missense_Mutation_p.H506P	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	506						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGGACACTTATGGTTTCTACA	0.348																																																	0													103.0	94.0	97.0					4																	47892656		2203	4300	6503	SO:0001583	missense	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1517A>C	4.37:g.47892656T>G	ENSP00000422037:p.His506Pro		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395062	0.83011	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.55588	0.51;0.51;0.51	5.26	5.26	0.73747	Zinc finger, NF-X1-type (1);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88687	0.3206	10	0.87932	D	0	-17.2328	15.1691	0.72854	0.0:0.0:0.0:1.0	.	506	Q6ZNB6	NFXL1_HUMAN	P	506	ENSP00000370949:H506P;ENSP00000422037:H506P;ENSP00000333113:H506P	ENSP00000333113:H506P	H	-	2	0	NFXL1	47587413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.631000	0.83237	2.000000	0.58554	0.528000	0.53228	CAT		0.348	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1		NM_152995	
TENM4	26011	hgsc.bcm.edu;ucsc.edu	37	11	78565192	78565192	+	Silent	SNP	G	G	A	rs372323028		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr11:78565192G>A	ENST00000278550.7	-	12	2100	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	546					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ACTCCTTTCCGTCATTGTAAA	0.547																																																	0								G		0,1384		0,0,692	48.0	49.0	48.0		1638	-10.0	0.5	11		48	1,3181		0,1,1590	no	coding-synonymous	ODZ4	NM_001098816.2		0,1,2282	AA,AG,GG		0.0314,0.0,0.0219		546/2770	78565192	1,4565	692	1591	2283	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1638C>T	11.37:g.78565192G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			
OXER1	165140	hgsc.bcm.edu;ucsc.edu	37	2	42991163	42991163	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr2:42991163A>G	ENST00000378661.2	-	1	238	c.157T>C	c.(157-159)Tcc>Ccc	p.S53P		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	53	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						acagaggaggagagagaggga	0.612																																																	0													62.0	52.0	55.0					2																	42991163		2203	4300	6503	SO:0001583	missense	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.157T>C	2.37:g.42991163A>G	ENSP00000367930:p.Ser53Pro		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048348	0.36181	.	.	ENSG00000162881	ENST00000378661	T	0.61158	0.13	2.24	0.964	0.19655	.	.	.	.	.	T	0.30293	0.0760	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16364	-1.0405	9	0.23302	T	0.38	.	4.0855	0.09945	0.7726:0.0:0.2274:0.0	.	53	Q8TDS5	OXER1_HUMAN	P	53	ENSP00000367930:S53P	ENSP00000367930:S53P	S	-	1	0	OXER1	42844667	0.381000	0.25140	0.001000	0.08648	0.009000	0.06853	-0.021000	0.12504	0.092000	0.17331	0.254000	0.18369	TCC		0.612	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1		NM_148962	
POLL	27343	hgsc.bcm.edu;ucsc.edu	37	10	103345150	103345150	+	Missense_Mutation	SNP	G	G	C	rs200617884		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr10:103345150G>C	ENST00000370162.3	-	4	990	c.496C>G	c.(496-498)Ctt>Gtt	p.L166V	DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.L166V|POLL_ENST00000456836.2_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000299206.4_Missense_Mutation_p.L166V|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000370172.1_Missense_Mutation_p.L78V|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000436284.2_Intron|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	166					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAGGAGAAAGGGCTGTCTGA	0.597								DNA polymerases (catalytic subunits)																																									0													218.0	181.0	193.0					10																	103345150		2203	4300	6503	SO:0001583	missense	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.496C>G	10.37:g.103345150G>C	ENSP00000359181:p.Leu166Val		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	3.675	-0.066654	0.07273	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000426919;ENST00000413344;ENST00000430045	T;T;T;T;T;T;T	0.44881	2.75;2.75;2.72;2.75;2.18;1.56;0.91	4.89	2.97	0.34412	.	1.657060	0.02929	N	0.138942	T	0.45175	0.1329	M	0.62723	1.935	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.35001	-0.9806	10	0.25106	T	0.35	-31.4672	11.5517	0.50725	0.0:0.3484:0.6516:0.0	.	166;166	Q9UGP5;A8K860	DPOLL_HUMAN;.	V	166;166;166;78;166;166;166;177;166;166	ENSP00000299206:L166V;ENSP00000359188:L166V;ENSP00000359191:L78V;ENSP00000359181:L166V;ENSP00000400676:L166V;ENSP00000411678:L177V;ENSP00000400517:L166V	ENSP00000299206:L166V	L	-	1	0	POLL	103335140	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.740000	0.26188	0.734000	0.32515	-0.304000	0.09214	CTT		0.597	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1		NM_013274	
PNLIPRP3	119548	hgsc.bcm.edu;ucsc.edu	37	10	118228715	118228715	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr10:118228715T>C	ENST00000369230.3	+	9	1092	c.946T>C	c.(946-948)Tcc>Ccc	p.S316P		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	316					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTCTTTTGTTCCAAAGAAGG	0.313																																																	0													79.0	80.0	79.0					10																	118228715		2203	4299	6502	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.946T>C	10.37:g.118228715T>C	ENSP00000358232:p.Ser316Pro			Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.563547	0.00134	.	.	ENSG00000203837	ENST00000369230	D	0.89746	-2.56	4.96	2.06	0.26882	Lipase, N-terminal (1);	0.000000	0.44902	N	0.000409	T	0.59293	0.2183	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.58222	-0.7674	10	0.02654	T	1	.	6.2991	0.21103	0.1295:0.66:0.0:0.2105	.	316	Q17RR3	LIPR3_HUMAN	P	316	ENSP00000358232:S316P	ENSP00000358232:S316P	S	+	1	0	PNLIPRP3	118218705	0.841000	0.29509	0.001000	0.08648	0.564000	0.35744	1.168000	0.31859	0.028000	0.15324	-0.186000	0.12905	TCC		0.313	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1		XM_058404	
MOK	5891	hgsc.bcm.edu;ucsc.edu	37	14	102699021	102699021	+	Missense_Mutation	SNP	A	A	C	rs144699014		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr14:102699021A>C	ENST00000361847.2	-	9	948	c.717T>G	c.(715-717)ttT>ttG	p.F239L	MOK_ENST00000523231.1_Intron|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.F209L|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000520266.1_Intron|MOK_ENST00000561150.1_Intron|MOK_ENST00000517966.1_5'UTR|MOK_ENST00000193029.6_Missense_Mutation_p.F5L|MOK_ENST00000519058.1_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.F238L	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	239	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)										TTTTAAAAGGAAAATCAAAAT	0.448																																																	0													108.0	110.0	109.0					14																	102699021		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.717T>G	14.37:g.102699021A>C	ENSP00000355304:p.Phe239Leu		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.445481	0.84101	.	.	ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214	T;T;T;T	0.69040	-0.37;1.07;1.07;1.07	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.45285	1.41	0.44439	D	0.99736	D;D	0.63880	0.993;0.993	D;D	0.67382	0.951;0.914	T	0.74856	-0.3522	10	0.87932	D	0	-1.1389	8.1021	0.30863	0.845:0.0:0.155:0.0	.	209;239	E7ERR8;Q9UQ07	.;MOK_HUMAN	L	5;238;239;209	ENSP00000193029:F5L;ENSP00000429469:F238L;ENSP00000355304:F239L;ENSP00000428942:F209L	ENSP00000193029:F5L	F	-	3	2	RAGE	101768774	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.887000	0.48586	2.180000	0.69256	0.379000	0.24179	TTT		0.448	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			
RANBP10	57610	hgsc.bcm.edu	37	16	67763369	67763369	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr16:67763369C>T	ENST00000317506.3	-	10	1281	c.1166G>A	c.(1165-1167)tGt>tAt	p.C389Y	RANBP10_ENST00000448631.2_Missense_Mutation_p.C333Y|RANBP10_ENST00000536251.1_Missense_Mutation_p.C160Y|RANBP10_ENST00000602677.1_Missense_Mutation_p.C389Y|RANBP10_ENST00000411657.2_Missense_Mutation_p.C272Y	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	389	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GCCATTGCTACAGCTGGGACT	0.562																																																	0													216.0	240.0	232.0					16																	67763369		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1166G>A	16.37:g.67763369C>T	ENSP00000316589:p.Cys389Tyr		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309480	0.60414	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.63843	1.955	0.80722	D	1	P;D;B	0.61080	0.771;0.989;0.006	B;P;B	0.55055	0.404;0.767;0.034	T	0.73600	-0.3931	9	0.52906	T	0.07	-21.6496	17.2654	0.87085	0.0:1.0:0.0:0.0	.	272;333;389	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	Y	389;333;160;272	.	ENSP00000316589:C389Y	C	-	2	0	RANBP10	66320870	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.454000	0.66651	2.623000	0.88846	0.563000	0.77884	TGT		0.562	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1		NM_020850	
RPH3AL	9501	hgsc.bcm.edu	37	17	171082	171082	+	Silent	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr17:171082G>A	ENST00000331302.7	-	4	509	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	RPH3AL_ENST00000323434.8_Silent_p.L68L|RPH3AL_ENST00000576001.1_5'Flank|RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000536489.2_Silent_p.L68L|RP11-1260E13.1_ENST00000572998.1_RNA	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	68	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGCTGCTCCAGGACGTCGAGC	0.682																																																	0													73.0	77.0	75.0					17																	171082		2203	4300	6503	SO:0001819	synonymous_variant	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.202C>T	17.37:g.171082G>A			D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	CCDS10994.1																																																																																				0.682	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2		NM_006987	
SAGE1	55511	hgsc.bcm.edu;ucsc.edu	37	X	134992605	134992605	+	Silent	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chrX:134992605G>A	ENST00000370709.3	+	15	1896	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	SAGE1_ENST00000535938.1_Silent_p.E632E|SAGE1_ENST00000537770.1_Silent_p.E256E|SAGE1_ENST00000324447.3_Silent_p.E632E			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	632						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAAGAGAAGATAAATA	0.483																																																	0													145.0	116.0	126.0					X																	134992605		2203	4300	6503	SO:0001819	synonymous_variant	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1896G>A	X.37:g.134992605G>A			Q5JNW0	Silent	SNP	ENST00000370709.3	37	CCDS14652.1																																																																																				0.483	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1		NM_018666	
SECISBP2	79048	hgsc.bcm.edu	37	9	91964776	91964776	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr9:91964776C>G	ENST00000375807.3	+	13	1895	c.1824C>G	c.(1822-1824)gaC>gaG	p.D608E	SECISBP2_ENST00000534113.2_Missense_Mutation_p.D540E|SECISBP2_ENST00000339901.4_Missense_Mutation_p.D535E	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	608					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TCCAGAGGGACACAGAGGCCT	0.587																																																	0													157.0	132.0	140.0					9																	91964776		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1824C>G	9.37:g.91964776C>G	ENSP00000364965:p.Asp608Glu		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	0.938	-0.710512	0.03230	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.72051	-0.61;-0.62;-0.61	4.52	0.193	0.15139	.	0.934042	0.09078	N	0.851699	T	0.45637	0.1352	N	0.16478	0.41	0.09310	N	1	B;B;B	0.14012	0.005;0.009;0.005	B;B;B	0.15484	0.006;0.013;0.004	T	0.32824	-0.9892	10	0.02654	T	1	-8.8123	5.4432	0.16521	0.0:0.4118:0.1967:0.3915	.	615;535;608	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	E	608;614;535;540	ENSP00000364965:D608E;ENSP00000364959:D535E;ENSP00000436650:D540E	ENSP00000364959:D535E	D	+	3	2	SECISBP2	91154596	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	0.006000	0.13152	0.153000	0.19213	0.655000	0.94253	GAC		0.587	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3		NM_024077	
SLC22A25	387601	hgsc.bcm.edu	37	11	62984813	62984813	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr11:62984813G>A	ENST00000306494.6	-	4	802	c.803C>T	c.(802-804)cCa>cTa	p.P268L	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000403374.2_Missense_Mutation_p.P102L|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GACAAAGCATGGTGCAGACAT	0.433																																																	0													138.0	118.0	125.0					11																	62984813		2201	4298	6499	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.803C>T	11.37:g.62984813G>A	ENSP00000307443:p.Pro268Leu			Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812241	0.50527	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.75050	0.77;-0.9	3.49	3.49	0.39957	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.060357	0.64402	D	0.000002	D	0.88066	0.6337	M	0.93462	3.42	0.09310	N	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.994	T	0.80037	-0.1550	10	0.87932	D	0	.	10.6534	0.45661	0.0:0.0:1.0:0.0	.	266;268	A4IF29;Q6T423	.;S22AP_HUMAN	L	268;102	ENSP00000307443:P268L;ENSP00000384208:P102L	ENSP00000307443:P268L	P	-	2	0	SLC22A25	62741389	0.993000	0.37304	0.002000	0.10522	0.001000	0.01503	5.228000	0.65310	1.528000	0.49103	0.530000	0.56133	CCA		0.433	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3		NM_199352	
SLC25A19	60386	hgsc.bcm.edu	37	17	73279618	73279618	+	Silent	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr17:73279618G>A	ENST00000402418.3	-	3	1254	c.345C>T	c.(343-345)gcC>gcT	p.A115A	SLC25A19_ENST00000442286.2_Silent_p.A115A|SLC25A19_ENST00000580994.1_Silent_p.A115A|SLC25A19_ENST00000375261.4_Intron|SLC25A19_ENST00000416858.2_Silent_p.A115A|SLC25A19_ENST00000320362.3_Silent_p.A115A			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	115					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGAATTCCCGGGCGTCATACA	0.557																																																	0													55.0	44.0	48.0					17																	73279618		2203	4300	6503	SO:0001819	synonymous_variant	60386				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.345C>T	17.37:g.73279618G>A			E9PF74|Q6V9R7	Silent	SNP	ENST00000402418.3	37	CCDS11720.1																																																																																				0.557	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1		NM_021734	
SLC35A4	113829	hgsc.bcm.edu	37	5	139946945	139946946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr5:139946945_139946946insA	ENST00000514199.1	+	2	1877_1878	c.191_192insA	c.(190-195)ttatgcfs	p.C65fs	APBB3_ENST00000507279.1_Intron|APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000508496.2_5'Flank|SLC35A4_ENST00000323146.3_Frame_Shift_Ins_p.C65fs			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	65	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTACTGTTATGCGCCTTCT	0.658																																																	0																																										SO:0001589	frameshift_variant	113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.192dupA	5.37:g.139946946_139946946dupA	ENSP00000424566:p.Cys65fs		A8K013	Frame_Shift_Ins	INS	ENST00000514199.1	37	CCDS4231.1																																																																																				0.658	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1		NM_080670	
SLC37A3	84255	hgsc.bcm.edu;ucsc.edu	37	7	140035229	140035229	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr7:140035229G>T	ENST00000326232.9	-	15	1671	c.1468C>A	c.(1468-1470)Cac>Aac	p.H490N	SLC37A3_ENST00000447932.2_Missense_Mutation_p.H474N|SLC37A3_ENST00000340308.3_Nonsense_Mutation_p.S389*	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	490					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTCAATATGTGAGCCTGTCTC	0.448																																					Esophageal Squamous(133;211 1716 4665 11387 37873)												0													107.0	96.0	100.0					7																	140035229		2203	4300	6503	SO:0001583	missense	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1468C>A	7.37:g.140035229G>T	ENSP00000321498:p.His490Asn		Q6PIU7|Q86SS4|Q9BQG7	Nonsense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.67|18.67	3.673884|3.673884	0.67928|0.67928	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000447932;ENST00000326232;ENST00000469636;ENST00000485538;ENST00000477006|ENST00000340308;ENST00000498469;ENST00000491357;ENST00000492027	T;T|.	0.13420|.	2.59;2.59|.	4.9|4.9	4.02|4.02	0.46733|0.46733	.|.	0.469770|.	0.24035|.	N|.	0.042154|.	T|.	0.45736|.	0.1357|.	N|N	0.22421|0.22421	0.69|0.69	0.35514|0.35514	D|D	0.800906|0.800906	B;B;B|.	0.18310|.	0.019;0.011;0.027|.	B;B;B|.	0.21546|.	0.008;0.004;0.035|.	T|.	0.56360|.	-0.7992|.	10|.	0.39692|0.37606	T|T	0.17|0.19	-27.8417|-27.8417	11.9097|11.9097	0.52733|0.52733	0.0808:0.0:0.9192:0.0|0.0808:0.0:0.9192:0.0	.|.	474;490;102|.	Q8NCC5-2;Q8NCC5;B3KX37|.	.;SPX3_HUMAN;.|.	N|X	474;490;52;44;105|389;107;68;76	ENSP00000397481:H474N;ENSP00000321498:H490N|.	ENSP00000321498:H490N|ENSP00000343358:S389X	H|S	-|-	1|2	0|0	SLC37A3|SLC37A3	139681698|139681698	0.987000|0.987000	0.35691|0.35691	0.048000|0.048000	0.18961|0.18961	0.432000|0.432000	0.31715|0.31715	4.311000|4.311000	0.59147|0.59147	1.442000|1.442000	0.47568|0.47568	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.448	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1		NM_032295	
ST6GALNAC3	256435	hgsc.bcm.edu;ucsc.edu	37	1	77094396	77094396	+	Missense_Mutation	SNP	G	G	A	rs199754738		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr1:77094396G>A	ENST00000328299.3	+	5	971	c.823G>A	c.(823-825)Ggg>Agg	p.G275R		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	275					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGCCCCATATGGGGGTCATAG	0.378													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20355	0.0		0.0	False		,,,				2504	0.0																0													123.0	126.0	125.0					1																	77094396		2203	4298	6501	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.823G>A	1.37:g.77094396G>A	ENSP00000329214:p.Gly275Arg		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	19.35	3.811002	0.70797	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.33438	1.41	5.3	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.87038	2.855	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.87578	0.989;0.998	T	0.63959	-0.6519	10	0.59425	D	0.04	-26.7341	15.7505	0.77983	0.0:0.0:0.8625:0.1375	.	174;275	B4DM98;Q8NDV1	.;SIA7C_HUMAN	R	275;274;173	ENSP00000329214:G275R	ENSP00000329214:G275R	G	+	1	0	ST6GALNAC3	76866984	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	9.398000	0.97281	1.360000	0.45960	0.645000	0.84053	GGG		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1		NM_152996	
TG	7038	hgsc.bcm.edu	37	8	133941401	133941401	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr8:133941401C>T	ENST00000220616.4	+	23	4820	c.4780C>T	c.(4780-4782)Cct>Tct	p.P1594S	TG_ENST00000377869.1_Missense_Mutation_p.P1537S|TG_ENST00000542445.1_Missense_Mutation_p.P28S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1594					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P1594S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCCAAAGTTCCTGATTCTGA	0.463																																																	1	Substitution - Missense(1)	skin(1)											141.0	118.0	126.0					8																	133941401		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4780C>T	8.37:g.133941401C>T	ENSP00000220616:p.Pro1594Ser		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.764|7.764	0.706102|0.706102	0.15239|0.15239	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.65732|.	-0.17;-0.17;-0.17|.	5.5|5.5	1.34|1.34	0.21922|0.21922	.|.	1.321480|.	0.04795|.	N|.	0.432475|.	T|T	0.34658|0.34658	0.0905|0.0905	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.20052|.	0.041;0.006|.	B;B|.	0.17433|.	0.018;0.003|.	T|T	0.25363|0.25363	-1.0134|-1.0134	10|5	0.20046|.	T|.	0.44|.	.|.	4.751|4.751	0.13061|0.13061	0.1404:0.505:0.2736:0.0811|0.1404:0.505:0.2736:0.0811	.|.	28;1594|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	S|F	1537;400;1594;28|113	ENSP00000367100:P1537S;ENSP00000220616:P1594S;ENSP00000441693:P28S|.	ENSP00000220616:P1594S|.	P|S	+|+	1|2	0|0	TG|TG	134010583|134010583	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.084000|0.084000	0.17831|0.17831	0.570000|0.570000	0.23653|0.23653	0.340000|0.340000	0.23745|0.23745	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235	
TYK2	7297	hgsc.bcm.edu	37	19	10468470	10468470	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr19:10468470C>G	ENST00000525621.1	-	17	2917	c.2436G>C	c.(2434-2436)gaG>gaC	p.E812D	TYK2_ENST00000529370.1_Missense_Mutation_p.E812D|TYK2_ENST00000524462.1_Missense_Mutation_p.E627D|TYK2_ENST00000264818.6_Missense_Mutation_p.E812D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	812	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCAGAGGGGCCTCTCCGTCAA	0.637																																																	0													28.0	28.0	28.0					19																	10468470		2202	4300	6502	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2436G>C	19.37:g.10468470C>G	ENSP00000431885:p.Glu812Asp		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	3.139	-0.176794	0.06380	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.74	-0.076	0.13724	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000085	T	0.75191	0.3816	L	0.48642	1.525	0.33482	D	0.587559	B;B	0.26602	0.154;0.071	B;B	0.36030	0.216;0.107	T	0.67313	-0.5702	10	0.22706	T	0.39	-25.1044	6.7336	0.23397	0.0:0.4798:0.0:0.5202	.	812;812	E9PPF2;P29597	.;TYK2_HUMAN	D	627;812;812;559;812	ENSP00000433203:E627D;ENSP00000431885:E812D;ENSP00000264818:E812D;ENSP00000432728:E812D	ENSP00000264818:E812D	E	-	3	2	TYK2	10329470	0.000000	0.05858	0.932000	0.37286	0.016000	0.09150	-1.743000	0.01834	0.218000	0.20820	-0.140000	0.14226	GAG		0.637	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			
USP4	7375	hgsc.bcm.edu;ucsc.edu	37	3	49321434	49321434	+	Silent	SNP	T	T	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:49321434T>A	ENST00000265560.4	-	19	2572	c.2526A>T	c.(2524-2526)gtA>gtT	p.V842V	USP4_ENST00000351842.4_Silent_p.V795V	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	842	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGGGAATTCTACGACTGTGT	0.458																																																	0													141.0	137.0	138.0					3																	49321434		2203	4300	6503	SO:0001819	synonymous_variant	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2526A>T	3.37:g.49321434T>A			A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	T	7.642	0.681104	0.14907	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.63	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.8739	7.6525	0.28356	0.2504:0.6562:0.0:0.0934	.	.	.	.	X	581	.	.	R	-	1	2	USP4	49296438	0.998000	0.40836	1.000000	0.80357	0.752000	0.42762	0.694000	0.25512	1.347000	0.45714	-0.242000	0.12053	AGA		0.458	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443	
VSIG10	54621	hgsc.bcm.edu	37	12	118506355	118506355	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:118506355T>C	ENST00000359236.5	-	8	1670	c.1394A>G	c.(1393-1395)gAa>gGa	p.E465G		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	465	Glu-rich.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						ctcctcctcttcctcttcTGA	0.453																																																	0													97.0	90.0	92.0					12																	118506355		2036	4183	6219	SO:0001583	missense	54621				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1394A>G	12.37:g.118506355T>C	ENSP00000352172:p.Glu465Gly		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	-	15.14	2.745266	0.49151	.	.	ENSG00000176834	ENST00000359236	T	0.56275	0.47	4.49	4.49	0.54785	.	0.000000	0.39475	N	0.001357	T	0.53045	0.1772	M	0.65975	2.015	0.38696	D	0.952882	P	0.39094	0.659	B	0.42959	0.403	T	0.56408	-0.7984	10	0.31617	T	0.26	-7.9331	10.6405	0.45590	0.0:0.0:0.0:1.0	.	465	Q8N0Z9	VSI10_HUMAN	G	465	ENSP00000352172:E465G	ENSP00000352172:E465G	E	-	2	0	VSIG10	116990738	0.907000	0.30839	0.987000	0.45799	0.693000	0.40251	1.316000	0.33620	1.833000	0.53350	0.234000	0.17832	GAA		0.453	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2		NM_019086	
ZSCAN2	54993	hgsc.bcm.edu	37	15	85164205	85164205	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr15:85164205G>T	ENST00000448803.2	+	3	1071	c.779G>T	c.(778-780)aGt>aTt	p.S260I	ZSCAN2_ENST00000546148.1_Missense_Mutation_p.S260I|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.S259I|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.S110I	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	260					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAAAGCTTTAGTGATGGTTCA	0.483																																																	0													78.0	81.0	80.0					15																	85164205		2203	4299	6502	SO:0001583	missense	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.779G>T	15.37:g.85164205G>T	ENSP00000410198:p.Ser260Ile		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990297	0.54041	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.61040	0.14;0.14;3.15;0.14	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.57021	0.2025	N	0.13140	0.3	0.80722	D	1	P;D	0.67145	0.949;0.996	P;D	0.63283	0.676;0.913	T	0.56661	-0.7942	9	.	.	.	-21.3156	15.6428	0.77020	0.0:0.0:1.0:0.0	.	260;260	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	I	260;260;110;259;241	ENSP00000410198:S260I;ENSP00000445451:S260I;ENSP00000351257:S110I;ENSP00000325123:S259I	.	S	+	2	0	ZSCAN2	82965209	0.002000	0.14202	0.993000	0.49108	0.970000	0.65996	0.008000	0.13197	2.355000	0.79922	0.655000	0.94253	AGT		0.483	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1		NM_017894	
