#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
ATAD3C	219293	hgsc.bcm.edu	37	1	1403814	1403814	+	Silent	SNP	C	C	T	rs146537972	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:1403814C>T	ENST00000378785.2	+	12	2135	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	380							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCATGATGGACGCCTGCGTGC	0.662													N|||	386	0.0770767	0.0643	0.0807	5008	,	,		15876	0.127		0.0388	False		,,,				2504	0.0798																0								C		231,4171		8,215,1978	38.0	40.0	39.0		1140	-2.5	0.3	1	dbSNP_134	39	265,8325		7,251,4037	no	coding-synonymous	ATAD3C	NM_001039211.2		15,466,6015	TT,TC,CC		3.085,5.2476,3.8177		380/412	1403814	496,12496	2201	4295	6496	SO:0001819	synonymous_variant	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1140C>T	1.37:g.1403814C>T			Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.662	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3		NM_001039211	
AKR7L	246181	hgsc.bcm.edu	37	1	19595194	19595194	+	RNA	SNP	A	A	G	rs75616155	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:19595194A>G	ENST00000429712.1	-	0	825				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCCTTCCAGAAGCTGTTCAGT	0.647													.|||	576	0.115016	0.3154	0.0778	5008	,	,		16606	0.0		0.0944	False		,,,				2504	0.0102																0								A		1210,3196	413.5+/-336.5	169,872,1162	76.0	67.0	70.0			3.5	1.0	1	dbSNP_131	70	814,7786	186.6+/-234.0	40,734,3526	no	intergenic				209,1606,4688	GG,GA,AA		9.4651,27.4626,15.562			19595194	2024,10982	2203	4300	6503			246181					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595194A>G			Q5U614	Missense_Mutation	SNP	ENST00000429712.1	37		254	0.1163003663003663	150	0.3048780487804878	32	0.08839779005524862	0	0.0	72	0.09498680738786279	A	17.65	3.442406	0.63067	0.274626	0.094651	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	T	0.03889	3.77	3.49	3.49	0.39957	NADP-dependent oxidoreductase domain (3);	0.184226	0.49916	D	0.000134	T	0.00012	0.0000	.	.	.	0.40273	P	0.021683000000000008	P	0.44006	0.824	P	0.50934	0.654	T	0.47923	-0.9079	8	0.72032	D	0.01	.	11.2248	0.48877	1.0:0.0:0.0:0.0	.	236	Q8NHP1	ARK74_HUMAN	L	58;126;236;201	ENSP00000406430:F58L	ENSP00000373538:F201L	F	-	1	0	AKR7L	19467781	1.000000	0.71417	0.952000	0.39060	0.311000	0.27955	8.284000	0.89912	1.587000	0.49959	0.377000	0.23210	TTC		0.647	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3		NM_201252	
ATP2C2	9914	hgsc.bcm.edu	37	16	84495698	84495698	+	Silent	SNP	G	G	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr16:84495698G>C	ENST00000262429.4	+	26	2774	c.2685G>C	c.(2683-2685)ctG>ctC	p.L895L	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Silent_p.L924L|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	895					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCCCCCCGCTGCAGAGGGTCT	0.622																																																	0													75.0	83.0	81.0					16																	84495698		1950	4145	6095	SO:0001819	synonymous_variant	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2685G>C	16.37:g.84495698G>C			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	CCDS42207.1																																																																																				0.622	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1		NM_014861	
CFAP43	80217	hgsc.bcm.edu;ucsc.edu	37	10	105893489	105893489	+	Silent	SNP	T	T	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:105893489T>C	ENST00000357060.3	-	35	4600	c.4485A>G	c.(4483-4485)aaA>aaG	p.K1495K	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.K1467K	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAAGTATTCTTTTGTGTACAT	0.323																																																	0													180.0	164.0	169.0					10																	105893489		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000357060.3:c.4485A>G	10.37:g.105893489T>C				Silent	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	T	8.939	0.965299	0.18583	.	.	ENSG00000197748	ENST00000457071;ENST00000434629	T	0.47177	0.85	5.61	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51872	-0.8650	7	0.66056	D	0.02	.	5.6143	0.17422	0.1257:0.1515:0.0:0.7228	.	.	.	.	R	344;827	ENSP00000391364:K827R	ENSP00000391364:K827R	K	-	2	0	WDR96	105883479	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.106000	0.41835	0.946000	0.37632	0.528000	0.53228	AAA		0.323	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
FOXL2NB	401089	hgsc.bcm.edu	37	3	138669387	138669387	+	Silent	SNP	C	C	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr3:138669387C>T	ENST00000383165.3	+	3	632	c.501C>T	c.(499-501)agC>agT	p.S167S		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		167										large_intestine(1)|lung(3)	4						GCTTGGCTAGCAAAGGGAAGC	0.597																																																	0													83.0	94.0	90.0					3																	138669387		2039	4200	6239	SO:0001819	synonymous_variant	401089																														ENST00000383165.3:c.501C>T	3.37:g.138669387C>T			A6NGX0	Silent	SNP	ENST00000383165.3	37	CCDS43155.1																																																																																				0.597	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			
CDK4	1019	hgsc.bcm.edu;ucsc.edu	37	12	58144726	58144726	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr12:58144726G>C	ENST00000257904.6	-	4	867	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.Q48E|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGTGCCATCTGGTAGCTGTAG	0.498			Mis			melanoma			Hereditary Melanoma																														yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													116.0	113.0	114.0					12																	58144726		2203	4300	6503	SO:0001583	missense	1019	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.502C>G	12.37:g.58144726G>C	ENSP00000257904:p.Gln168Glu		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275879	0.40294	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.68479	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.33	4.66	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057896	0.64402	D	0.000001	T	0.50292	0.1607	N	0.10972	0.075	0.80722	D	1	B	0.24317	0.101	B	0.22880	0.042	T	0.54309	-0.8313	10	0.87932	D	0	.	16.8541	0.86001	0.0:0.0:1.0:0.0	.	168	P11802	CDK4_HUMAN	E	168;48;94;94;94;168;168	ENSP00000257904:Q168E;ENSP00000439076:Q48E;ENSP00000447779:Q94E;ENSP00000447274:Q94E;ENSP00000449391:Q94E;ENSP00000449179:Q168E;ENSP00000448963:Q168E	ENSP00000257904:Q168E	Q	-	1	0	CDK4	56430993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.365000	0.97139	2.581000	0.87130	0.655000	0.94253	CAG		0.498	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2		NM_000075	
CHRNA4	1137	hgsc.bcm.edu	37	20	61987735	61987735	+	Silent	SNP	T	T	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr20:61987735T>C	ENST00000370263.4	-	3	482	c.261A>G	c.(259-261)gtA>gtG	p.V87V	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	87					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCTTCACCCATACGTTCGTGG	0.642																																																	0													64.0	45.0	51.0					20																	61987735		2198	4291	6489	SO:0001819	synonymous_variant	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.261A>G	20.37:g.61987735T>C			Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																				0.642	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			
DMBX1	127343	hgsc.bcm.edu	37	1	46976717	46976717	+	Silent	SNP	C	C	T	rs12045245	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:46976717C>T	ENST00000360032.3	+	3	458	c.444C>T	c.(442-444)gcC>gcT	p.A148A	DMBX1_ENST00000371956.4_Silent_p.A153A	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AAGGCAAGGCCGAGGCCCCCA	0.637													C|||	1516	0.302716	0.4924	0.1916	5008	,	,		17349	0.2718		0.175	False		,,,				2504	0.2883																0								C	,	1891,2515	537.0+/-374.6	392,1107,704	51.0	61.0	58.0		459,444	-9.7	0.0	1	dbSNP_120	58	1401,7199	269.1+/-288.2	146,1109,3045	no	coding-synonymous,coding-synonymous	DMBX1	NM_147192.2,NM_172225.1	,	538,2216,3749	TT,TC,CC		16.2907,42.9187,25.3114	,	153/383,148/378	46976717	3292,9714	2203	4300	6503	SO:0001819	synonymous_variant	127343			AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.444C>T	1.37:g.46976717C>T				Silent	SNP	ENST00000360032.3	37	CCDS536.1																																																																																				0.637	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			
EHD2	30846	hgsc.bcm.edu	37	19	48239721	48239721	+	Silent	SNP	C	C	A	rs141588825		TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr19:48239721C>A	ENST00000263277.3	+	5	1262	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	EHD2_ENST00000538399.1_Silent_p.V201V|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	337					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.V337V(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AACTGCCCGTCATCTTTGCGA	0.517																																																	1	Substitution - coding silent(1)	skin(1)											155.0	132.0	140.0					19																	48239721		2203	4300	6503	SO:0001819	synonymous_variant	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1011C>A	19.37:g.48239721C>A			B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	CCDS12704.1																																																																																				0.517	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			
EIF4G1	1981	hgsc.bcm.edu	37	3	184041029	184041029	+	Splice_Site	SNP	G	G	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr3:184041029G>T	ENST00000346169.2	+	14	2359	c.2088G>T	c.(2086-2088)ccG>ccT	p.P696P	EIF4G1_ENST00000434061.2_Splice_Site_p.P500P|EIF4G1_ENST00000342981.4_Splice_Site_p.P696P|EIF4G1_ENST00000350481.5_Splice_Site_p.P532P|EIF4G1_ENST00000352767.3_Splice_Site_p.P703P|EIF4G1_ENST00000382330.3_Splice_Site_p.P703P|EIF4G1_ENST00000414031.1_Splice_Site_p.P656P|EIF4G1_ENST00000427845.1_Splice_Site_p.P609P|EIF4G1_ENST00000441154.1_Splice_Site_p.P532P|EIF4G1_ENST00000435046.2_Splice_Site_p.P500P|EIF4G1_ENST00000424196.1_Splice_Site_p.P703P|EIF4G1_ENST00000392537.2_Splice_Site_p.P609P|SNORD66_ENST00000390856.1_RNA|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Splice_Site_p.P656P|EIF4G1_ENST00000319274.6_Splice_Site_p.P696P	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	696	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding.		P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.	P -> A (in Ref. 1; BAA02185). {ECO:0000305}.	cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGTGGGCCGGTGAGTGGGG	0.667																																																	0													48.0	59.0	55.0					3																	184041029		2203	4298	6501	SO:0001630	splice_region_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2088+1G>T	3.37:g.184041029G>T			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.667	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1		NM_182917	Silent
GATA3	2625	hgsc.bcm.edu;ucsc.edu	37	10	8115905	8115905	+	Silent	SNP	C	C	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:8115905C>T	ENST00000346208.3	+	6	1706	c.1251C>T	c.(1249-1251)acC>acT	p.T417T	GATA3_ENST00000379328.3_Silent_p.T418T|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	417					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.T419fs*28(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACATGCTGACCACGCCCACGC	0.627			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	breast(1)											97.0	85.0	89.0					10																	8115905		2203	4300	6503	SO:0001819	synonymous_variant	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1251C>T	10.37:g.8115905C>T			Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	CCDS7083.1																																																																																				0.627	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1		NM_001002295	
IL1RAPL2	26280	hgsc.bcm.edu;ucsc.edu	37	X	104961395	104961395	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chrX:104961395G>A	ENST00000372582.1	+	7	1564	c.808G>A	c.(808-810)Gga>Aga	p.G270R	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G270R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	270	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCATTCTTCGGATTCAGTGG	0.438																																																	0													159.0	150.0	153.0					X																	104961395		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.808G>A	X.37:g.104961395G>A	ENSP00000361663:p.Gly270Arg		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665623	0.88251	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03663	3.85;3.85	5.32	5.32	0.75619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.19406	0.0466	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00320	-1.1820	10	0.54805	T	0.06	.	16.8989	0.86108	0.0:0.0:1.0:0.0	.	270	Q9NP60	IRPL2_HUMAN	R	270	ENSP00000361663:G270R;ENSP00000344976:G270R	ENSP00000344976:G270R	G	+	1	0	IL1RAPL2	104848051	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.367000	0.97148	2.197000	0.70478	0.506000	0.49869	GGA		0.438	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1		NM_017416	
IWS1	55677	hgsc.bcm.edu	37	2	128262648	128262648	+	Silent	SNP	T	T	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr2:128262648T>C	ENST00000295321.4	-	3	1090	c.831A>G	c.(829-831)gaA>gaG	p.E277E	IWS1_ENST00000486662.1_5'Flank|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.E284E	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	277	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GATCCTCACTTTCCGAATCAC	0.547																																																	0													146.0	159.0	155.0					2																	128262648		2203	4300	6503	SO:0001819	synonymous_variant	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.831A>G	2.37:g.128262648T>C			Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	CCDS2146.1																																																																																				0.547	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2		NM_017969	
JAK2	3717	hgsc.bcm.edu	37	9	5072549	5072549	+	Missense_Mutation	SNP	G	G	T	rs552162949		TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr9:5072549G>T	ENST00000381652.3	+	13	2193	c.1699G>T	c.(1699-1701)Gta>Tta	p.V567L	JAK2_ENST00000539801.1_Missense_Mutation_p.V567L|JAK2_ENST00000544510.1_Missense_Mutation_p.V418L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	567	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACGAAGAGAAGTAGGAGACTA	0.353		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													68.0	69.0	69.0					9																	5072549		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1699G>T	9.37:g.5072549G>T	ENSP00000371067:p.Val567Leu		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	7.210	0.595231	0.13875	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.32023	1.47;1.47;1.47	5.56	1.11	0.20524	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.423794	0.26887	N	0.021995	T	0.11623	0.0283	N	0.04335	-0.225	0.39342	D	0.965594	B	0.02656	0.0	B	0.08055	0.003	T	0.11012	-1.0605	10	0.26408	T	0.33	-8.1033	6.3322	0.21276	0.3453:0.1274:0.5273:0.0	.	567	O60674	JAK2_HUMAN	L	567;567;418	ENSP00000440387:V567L;ENSP00000371067:V567L;ENSP00000443103:V418L	ENSP00000371067:V567L	V	+	1	0	JAK2	5062549	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.804000	0.38873	0.313000	0.23062	0.585000	0.79938	GTA		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			
KIF21A	55605	hgsc.bcm.edu	37	12	39695437	39695437	+	Silent	SNP	C	C	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr12:39695437C>A	ENST00000361418.5	-	37	4791	c.4776G>T	c.(4774-4776)gtG>gtT	p.V1592V	KIF21A_ENST00000361961.3_Silent_p.V1579V|KIF21A_ENST00000395670.3_Silent_p.V1593V|KIF21A_ENST00000541463.2_Silent_p.V1539V|KIF21A_ENST00000544797.2_Silent_p.V1555V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1592					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1579V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTCTGGCACCACTCCCAGGG	0.463																																																	1	Substitution - coding silent(1)	ovary(1)											134.0	138.0	137.0					12																	39695437		2203	4300	6503	SO:0001819	synonymous_variant	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4776G>T	12.37:g.39695437C>A			A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	6.071	0.381317	0.11466	.	.	ENSG00000139116	ENST00000552961	.	.	.	4.43	3.54	0.40534	.	.	.	.	.	T	0.57902	0.2085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51325	-0.8720	4	.	.	.	.	8.3139	0.32088	0.0:0.7135:0.1315:0.1549	.	.	.	.	L	893	.	.	W	-	2	0	KIF21A	37981704	0.983000	0.35010	0.992000	0.48379	0.885000	0.51271	0.720000	0.25896	0.509000	0.28195	-0.813000	0.03139	TGG		0.463	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641	
LDB3	11155	hgsc.bcm.edu	37	10	88476148	88476148	+	Silent	SNP	C	C	A	rs397517209		TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:88476148C>A	ENST00000361373.4	+	9	1317	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S	LDB3_ENST00000429277.2_Silent_p.S437S|LDB3_ENST00000352360.5_Silent_p.S175S|LDB3_ENST00000263066.6_Silent_p.S322S|LDB3_ENST00000458213.2_Silent_p.S322S	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						Acaccccctcccctgcccctg	0.612																																																	0													28.0	27.0	27.0					10																	88476148		2203	4300	6503	SO:0001819	synonymous_variant	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1296C>A	10.37:g.88476148C>A				Silent	SNP	ENST00000361373.4	37	CCDS7377.1																																																																																				0.612	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			
LOXHD1	125336	hgsc.bcm.edu	37	18	44104808	44104808	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr18:44104808T>G	ENST00000398722.4	-	23	3768	c.3769A>C	c.(3769-3771)Aag>Cag	p.K1257Q	LOXHD1_ENST00000579038.1_Missense_Mutation_p.K328Q|LOXHD1_ENST00000582408.1_Missense_Mutation_p.K424Q|LOXHD1_ENST00000536736.1_Missense_Mutation_p.K1535Q|LOXHD1_ENST00000441551.2_Missense_Mutation_p.K1329Q|LOXHD1_ENST00000300591.6_Missense_Mutation_p.K424Q|LOXHD1_ENST00000441893.2_Missense_Mutation_p.K468Q			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1257	PLAT 9. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GCGCACCACTTGGAGTTGTCA	0.567																																																	0													131.0	130.0	130.0					18																	44104808		692	1591	2283	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.3769A>C	18.37:g.44104808T>G	ENSP00000381707:p.Lys1257Gln		B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	T	13.14	2.147936	0.37923	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.19	5.19	0.71726	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.253923	0.43579	D	0.000556	T	0.18841	0.0452	N	0.02539	-0.55	0.29908	N	0.823842	D;D;D;D	0.76494	0.993;0.999;0.997;0.998	P;D;D;D	0.72625	0.896;0.921;0.917;0.978	T	0.12451	-1.0547	10	0.34782	T	0.22	.	9.8768	0.41209	0.1531:0.0:0.0:0.8469	.	1535;468;1257;1257	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	Q	424;1257;1535;468;1257	ENSP00000300591:K424Q;ENSP00000381707:K1257Q;ENSP00000444586:K1535Q;ENSP00000409062:K468Q	ENSP00000300591:K424Q	K	-	1	0	LOXHD1	42358806	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.833000	0.55790	1.959000	0.56917	0.459000	0.35465	AAG		0.567	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding			NM_144612	
MAML1	9794	hgsc.bcm.edu	37	5	179201298	179201298	+	Missense_Mutation	SNP	C	C	T	rs61753466	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr5:179201298C>T	ENST00000292599.3	+	5	2734	c.2471C>T	c.(2470-2472)cCg>cTg	p.P824L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAAGCCACCGGTCCCAAGG	0.597													C|||	19	0.00379393	0.0	0.0072	5008	,	,		17023	0.0		0.0139	False		,,,				2504	0.0																0								C	LEU/PRO	9,4397	15.5+/-35.6	0,9,2194	40.0	37.0	38.0		2471	0.7	0.9	5	dbSNP_129	38	96,8504	52.3+/-112.8	0,96,4204	yes	missense	MAML1	NM_014757.4	98	0,105,6398	TT,TC,CC		1.1163,0.2043,0.8073	benign	824/1017	179201298	105,12901	2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2471C>T	5.37:g.179201298C>T	ENSP00000292599:p.Pro824Leu			Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	11	0.005036630036630037	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	6	0.0079155672823219	C	7.063	0.566738	0.13560	0.002043	0.011163	ENSG00000161021	ENST00000292599	T	0.22539	1.95	4.94	0.661	0.17874	.	0.360529	0.26971	N	0.021575	T	0.07052	0.0179	N	0.08118	0	0.28627	N	0.90788	B	0.26041	0.14	B	0.15870	0.014	T	0.13710	-1.0499	10	0.44086	T	0.13	-3.3956	13.5267	0.61599	0.6005:0.3995:0.0:0.0	rs61753466	824	Q92585	MAML1_HUMAN	L	824	ENSP00000292599:P824L	ENSP00000292599:P824L	P	+	2	0	MAML1	179133904	1.000000	0.71417	0.910000	0.35882	0.113000	0.19764	2.609000	0.46317	0.225000	0.20959	-0.521000	0.04368	CCG		0.597	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2		NM_014757	
MOCS1	4337	hgsc.bcm.edu	37	6	39895231	39895231	+	Intron	SNP	G	G	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr6:39895231G>T	ENST00000340692.5	-	2	127				MOCS1_ENST00000425303.2_Missense_Mutation_p.S29R|MOCS1_ENST00000373186.4_Missense_Mutation_p.S29R|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000373175.4_Intron|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000432280.2_Intron|MOCS1_ENST00000373195.3_Intron			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1						Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATGGGCCCCTGCTACCGGGCT	0.637																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													41.0	39.0	40.0					6																	39895231		2201	4298	6499	SO:0001627	intron_variant	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.124-37C>A	6.37:g.39895231G>T			B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37		.	.	.	.	.	.	.	.	.	.	G	7.128	0.579309	0.13686	.	.	ENSG00000124615	ENST00000373186;ENST00000425303	T	0.31247	1.5	3.81	3.81	0.43845	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.80722	D	1	B;B	0.17038	0.02;0.002	B;B	0.15870	0.014;0.003	T	0.07597	-1.0764	7	.	.	.	.	11.4849	0.50348	0.0:0.0:1.0:0.0	.	29;29	Q9NZB8-8;Q9NZB8-6	.;.	R	29	ENSP00000416478:S29R	.	S	-	3	2	MOCS1	40003209	0.004000	0.15560	0.005000	0.12908	0.001000	0.01503	0.926000	0.28804	2.416000	0.81992	0.561000	0.74099	AGC		0.637	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2		NM_005943	
PHKA2	5256	hgsc.bcm.edu	37	X	18926100	18926100	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chrX:18926100C>T	ENST00000379942.4	-	22	3100	c.2435G>A	c.(2434-2436)gGg>gAg	p.G812E		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	812	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCCGGCTTTCCCATAGAGCTC	0.552																																																	0													192.0	175.0	181.0					X																	18926100		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2435G>A	X.37:g.18926100C>T	ENSP00000369274:p.Gly812Glu		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	0.250	-1.007395	0.02112	.	.	ENSG00000044446	ENST00000379942	D	0.87571	-2.27	5.78	4.0	0.46444	Glycoside hydrolase 15-related (1);	0.702515	0.15273	N	0.271121	T	0.69106	0.3074	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.50162	-0.8860	10	0.02654	T	1	-5.2331	11.2992	0.49295	0.0:0.8065:0.1232:0.0702	.	812	P46019	KPB2_HUMAN	E	812	ENSP00000369274:G812E	ENSP00000369274:G812E	G	-	2	0	PHKA2	18836021	0.013000	0.17824	0.386000	0.26170	0.591000	0.36615	1.112000	0.31172	0.673000	0.31224	0.600000	0.82982	GGG		0.552	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1		NM_000292	
PLEKHG4B	153478	hgsc.bcm.edu	37	5	155056	155056	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr5:155056C>A	ENST00000283426.6	+	6	1041	c.991C>A	c.(991-993)Ctc>Atc	p.L331I		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	331							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCGCAGACCTCGACGGCTC	0.582																																																	0													90.0	79.0	83.0					5																	155056		2203	4300	6503	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.991C>A	5.37:g.155056C>A	ENSP00000283426:p.Leu331Ile			Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	10.20	1.285256	0.23478	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.63913	-0.07;-0.07	3.88	1.19	0.21007	.	.	.	.	.	T	0.62672	0.2447	M	0.82517	2.595	0.09310	N	1	P	0.48694	0.914	B	0.44044	0.439	T	0.57093	-0.7870	9	0.66056	D	0.02	.	4.5953	0.12327	0.0:0.5458:0.0:0.4542	.	331	Q96PX9	PKH4B_HUMAN	I	331;245	ENSP00000283426:L331I;ENSP00000422493:L245I	ENSP00000283426:L331I	L	+	1	0	PLEKHG4B	208056	0.860000	0.29831	0.001000	0.08648	0.136000	0.21042	0.272000	0.18644	0.465000	0.27167	0.460000	0.39030	CTC		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1		NM_052909	
PPARGC1A	10891	hgsc.bcm.edu;ucsc.edu	37	4	23886513	23886513	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr4:23886513A>C	ENST00000264867.2	-	2	215	c.96T>G	c.(94-96)gaT>gaG	p.D32E	PPARGC1A_ENST00000507380.1_Missense_Mutation_p.D32E|PPARGC1A_ENST00000509702.1_5'Flank	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	32					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTCAGGAAGATCTGGGCAAA	0.413																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													72.0	67.0	68.0					4																	23886513		2203	4300	6503	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.96T>G	4.37:g.23886513A>C	ENSP00000264867:p.Asp32Glu		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378509	0.82682	.	.	ENSG00000109819	ENST00000264867;ENST00000507380	T	0.59083	0.29	6.07	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.81112	2.525	0.48901	D	0.999727	D;D	0.89917	1.0;0.984	D;D	0.83275	0.996;0.967	T	0.77968	-0.2388	10	0.87932	D	0	-10.632	10.5449	0.45054	0.8743:0.0:0.1257:0.0	.	32;32	D6RBF3;Q9UBK2	.;PRGC1_HUMAN	E	32	ENSP00000264867:D32E	ENSP00000264867:D32E	D	-	3	2	PPARGC1A	23495611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.805000	0.55575	2.326000	0.78906	0.533000	0.62120	GAT		0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1		NM_013261	
PTPRU	10076	hgsc.bcm.edu	37	1	29618536	29618536	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:29618536G>T	ENST00000345512.3	+	16	2633	c.2504G>T	c.(2503-2505)cGg>cTg	p.R835L	PTPRU_ENST00000428026.2_Missense_Mutation_p.R825L|PTPRU_ENST00000323874.8_Missense_Mutation_p.R825L|PTPRU_ENST00000373779.3_Missense_Mutation_p.R825L|PTPRU_ENST00000356870.3_Missense_Mutation_p.R825L|PTPRU_ENST00000460170.2_Missense_Mutation_p.R825L|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	835	Mediates interaction with CTNNB1. {ECO:0000250}.		R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TACAGCACCCGGGGTGAGTGC	0.617																																																	0													44.0	45.0	45.0					1																	29618536		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2504G>T	1.37:g.29618536G>T	ENSP00000334941:p.Arg835Leu		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902851	0.92035	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.34275	1.41;1.43;1.43;1.43;1.37;1.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.62723	1.935	0.52501	D	0.99995	P;B;P;P;P	0.48998	0.918;0.065;0.918;0.866;0.866	P;B;P;B;B	0.46975	0.533;0.036;0.533;0.353;0.333	T	0.35599	-0.9782	9	.	.	.	.	15.8259	0.78706	0.0:0.0:1.0:0.0	.	825;825;825;825;835	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	L	835;825;825;825;825;825	ENSP00000334941:R835L;ENSP00000362884:R825L;ENSP00000349333:R825L;ENSP00000314987:R825L;ENSP00000392332:R825L;ENSP00000432906:R825L	.	R	+	2	0	PTPRU	29491123	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.432000	0.80349	2.477000	0.83638	0.655000	0.94253	CGG		0.617	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47079155	47079155	+	Splice_Site	SNP	C	C	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr3:47079155C>G	ENST00000409792.3	-	18	7393		c.e18+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCCACACTCACCTTCATGGGG	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													135.0	118.0	123.0					3																	47079155		2203	4300	6503	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7350+1G>C	3.37:g.47079155C>G			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978373	0.92982	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47054159	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.703000	0.84585	2.779000	0.95612	0.591000	0.81541	.		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	Intron
SLC13A2	9058	hgsc.bcm.edu	37	17	26817926	26817926	+	Splice_Site	SNP	T	T	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr17:26817926T>G	ENST00000314669.5	+	4	994		c.e4+2		SLC13A2_ENST00000444914.3_Splice_Site|SLC13A2_ENST00000545060.1_Splice_Site|SLC13A2_ENST00000537681.1_Splice_Site	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2						dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAAGCTTGGTGAGAAAAATG	0.577																																																	0													47.0	39.0	42.0					17																	26817926		2203	4300	6503	SO:0001630	splice_region_variant	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.574+2T>G	17.37:g.26817926T>G			B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Splice_Site	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.496429	0.44352	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	.	.	.	5.31	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1273	0.31005	0.0:0.0934:0.0:0.9066	.	.	.	.	.	-1	.	.	.	+	.	.	SLC13A2	23842053	0.987000	0.35691	1.000000	0.80357	0.614000	0.37383	1.521000	0.35910	0.826000	0.34661	0.528000	0.53228	.		0.577	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1		NM_003984	Intron
SLC35B2	347734	hgsc.bcm.edu	37	6	44223195	44223195	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr6:44223195T>C	ENST00000393812.3	-	4	690	c.547A>G	c.(547-549)Atg>Gtg	p.M183V	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.M50V|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.M90V	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	183					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACCGGTACATGGGTGCCCCA	0.577																																																	0													96.0	104.0	101.0					6																	44223195		2203	4300	6503	SO:0001583	missense	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.547A>G	6.37:g.44223195T>C	ENSP00000377401:p.Met183Val		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371684	0.61624	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.28454	1.61;1.61;1.61	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	L	0.40543	1.245	0.80722	D	1	B;B	0.25904	0.014;0.137	B;B	0.30401	0.032;0.115	T	0.03695	-1.1012	10	0.35671	T	0.21	-15.4946	16.104	0.81205	0.0:0.0:0.0:1.0	.	90;183	F5H7Y9;Q8TB61	.;S35B2_HUMAN	V	183;50;90;183	ENSP00000377401:M183V;ENSP00000440340:M50V;ENSP00000443845:M90V	ENSP00000342455:M183V	M	-	1	0	SLC35B2	44331173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.210000	0.72176	2.216000	0.71823	0.454000	0.30748	ATG		0.577	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			
SPZ1	84654	hgsc.bcm.edu;ucsc.edu	37	5	79616716	79616716	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr5:79616716G>C	ENST00000296739.4	+	1	927	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	228	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ACAAAGTCAGGAAAAAGCAAA	0.358																																																	0													61.0	55.0	57.0					5																	79616716		1831	4084	5915	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.682G>C	5.37:g.79616716G>C	ENSP00000369611:p.Glu228Gln		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461729	0.43736	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.63417	-0.04;1.25	4.35	1.56	0.23342	.	0.650115	0.13700	N	0.368899	T	0.67135	0.2861	L	0.52905	1.665	0.09310	N	1	D	0.71674	0.998	D	0.63877	0.919	T	0.53535	-0.8425	10	0.37606	T	0.19	-8.1379	5.6908	0.17829	0.3489:0.0:0.6511:0.0	.	228	Q9BXG8	SPZ1_HUMAN	Q	228	ENSP00000426530:E228Q;ENSP00000369611:E228Q	ENSP00000369611:E228Q	E	+	1	0	SPZ1	79652472	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.224000	0.17738	0.337000	0.23665	0.563000	0.77884	GAA		0.358	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1		NM_032567	
TET1	80312	hgsc.bcm.edu	37	10	70450818	70450818	+	Silent	SNP	A	A	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:70450818A>G	ENST00000373644.4	+	12	5867	c.5658A>G	c.(5656-5658)ggA>ggG	p.G1886G		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1886					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGCCTTCGGGAAGACTCAGTG	0.572																																																	0													74.0	67.0	69.0					10																	70450818		2203	4300	6503	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5658A>G	10.37:g.70450818A>G			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.572	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1		NM_030625	
TMC4	147798	hgsc.bcm.edu	37	19	54675643	54675643	+	Missense_Mutation	SNP	G	G	A	rs77215230	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr19:54675643G>A	ENST00000376591.4	-	2	438	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	TMC4_ENST00000301187.4_Missense_Mutation_p.H97Y|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	103					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTCACCTGTGTGCCCGTCTG	0.667													G|||	628	0.125399	0.1437	0.1037	5008	,	,		14679	0.0367		0.1183	False		,,,				2504	0.2147																0								G	TYR/HIS,TYR/HIS	733,3673	300.1+/-286.2	57,619,1527	82.0	82.0	82.0		307,289	2.7	1.0	19	dbSNP_131	82	1016,7584	218.7+/-257.0	60,896,3344	no	missense,missense	TMC4	NM_001145303.1,NM_144686.2	83,83	117,1515,4871	AA,AG,GG		11.814,16.6364,13.4476	possibly-damaging,possibly-damaging	103/713,97/707	54675643	1749,11257	2203	4300	6503	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.307C>T	19.37:g.54675643G>A	ENSP00000365776:p.His103Tyr		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	229	0.10485347985347986	73	0.1483739837398374	43	0.11878453038674033	23	0.04020979020979021	90	0.11873350923482849	G	2.669	-0.278009	0.05679	0.166364	0.11814	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.76709	0.78;0.78;-1.04	3.8	2.74	0.32292	.	2.664940	0.01530	U	0.018756	T	0.00496	0.0016	M	0.62723	1.935	0.09310	P	0.999999670532	P;B	0.36199	0.543;0.27	B;B	0.36186	0.096;0.219	T	0.34279	-0.9835	9	0.07990	T	0.79	.	6.7276	0.23365	0.1323:0.0:0.8677:0.0	rs11538074	103;97	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	Y	97;103;7	ENSP00000301187:H97Y;ENSP00000365776:H103Y;ENSP00000416444:H7Y	ENSP00000301187:H97Y	H	-	1	0	TMC4	59367455	0.956000	0.32656	0.997000	0.53966	0.954000	0.61252	1.583000	0.36579	1.908000	0.55244	0.435000	0.28638	CAC		0.667	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			
TRAPPC10	7109	hgsc.bcm.edu;ucsc.edu	37	21	45502925	45502925	+	Silent	SNP	G	G	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr21:45502925G>A	ENST00000291574.4	+	14	2155	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	660					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTCCACCCGAGACCGCACCTT	0.488																																																	0													144.0	139.0	141.0					21																	45502925		2203	4300	6503	SO:0001819	synonymous_variant	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1980G>A	21.37:g.45502925G>A			Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	CCDS13704.1																																																																																				0.488	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274	
TRHR	7201	hgsc.bcm.edu	37	8	110100374	110100374	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr8:110100374T>A	ENST00000518632.1	+	2	984	c.633T>A	c.(631-633)taT>taA	p.Y211*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.Y211*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	211					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCGTCCTCTATGGATTCATAG	0.393																																																	0													105.0	99.0	101.0					8																	110100374		2203	4300	6503	SO:0001587	stop_gained	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.633T>A	8.37:g.110100374T>A	ENSP00000430711:p.Tyr211*		Q2M339	Nonsense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	36	5.736728	0.96865	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	.	.	.	6.17	1.0	0.19881	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1098	9.952	0.41645	0.0:0.2554:0.0:0.7446	.	.	.	.	X	211	.	ENSP00000309818:Y211X	Y	+	3	2	TRHR	110169550	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	1.388000	0.34442	-0.049000	0.13379	0.533000	0.62120	TAT		0.393	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			
TRPM1	4308	hgsc.bcm.edu;ucsc.edu	37	15	31355418	31355418	+	Silent	SNP	G	G	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr15:31355418G>A	ENST00000256552.6	-	8	1015	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Silent_p.L268L|TRPM1_ENST00000542188.1_Silent_p.L307L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCTTCTTGCAGGTATTCCAAG	0.597																																																	0													80.0	90.0	87.0					15																	31355418		2060	4199	6259	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.868C>T	15.37:g.31355418G>A				Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.597	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2		NM_002420	
VENTX	27287	hgsc.bcm.edu	37	10	135053527	135053527	+	Missense_Mutation	SNP	C	C	T	rs150065198	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:135053527C>T	ENST00000325980.9	+	3	1005	c.494C>T	c.(493-495)gCg>gTg	p.A165V		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	165					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TCTCTCCATGCGCCCCCAGCT	0.597																																																	0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	47.0	52.0	50.0		494	-0.6	0.0	10	dbSNP_134	50	3,8597	3.0+/-9.4	0,3,4297	yes	missense	VENTX	NM_014468.2	64	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	165/259	135053527	4,13002	2203	4300	6503	SO:0001583	missense	27287			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.494C>T	10.37:g.135053527C>T	ENSP00000357556:p.Ala165Val		Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	2.166	-0.390981	0.04932	2.27E-4	3.49E-4	ENSG00000151650	ENST00000325980	D	0.91237	-2.81	2.68	-0.57	0.11753	.	1.766420	0.03653	N	0.241412	T	0.76919	0.4055	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.65689	-0.6107	10	0.17369	T	0.5	.	6.0163	0.19605	0.0:0.6695:0.1938:0.1367	.	165	O95231	VENTX_HUMAN	V	165	ENSP00000357556:A165V	ENSP00000357556:A165V	A	+	2	0	VENTX	134903517	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.976000	0.03786	-0.269000	0.09298	-1.426000	0.01102	GCG		0.597	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4		NM_014468	
VPS13D	55187	hgsc.bcm.edu;ucsc.edu	37	1	12403073	12403073	+	Silent	SNP	C	C	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:12403073C>T	ENST00000358136.3	+	42	8980	c.8850C>T	c.(8848-8850)ccC>ccT	p.P2950P	VPS13D_ENST00000356315.4_Silent_p.P2925P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGAGATTCCCTTTGAATTTG	0.408																																																	0													99.0	90.0	93.0					1																	12403073		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8850C>T	1.37:g.12403073C>T				Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484584	0.12641	.	.	ENSG00000048707	ENST00000011700	T	0.50813	0.73	5.52	-3.11	0.05299	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29488	-1.0010	7	0.51188	T	0.08	.	2.052	0.03573	0.141:0.3482:0.1595:0.3513	.	.	.	.	L	1772	ENSP00000011700:P1772L	ENSP00000011700:P1772L	P	+	2	0	VPS13D	12325660	0.398000	0.25279	0.982000	0.44146	0.820000	0.46376	-0.428000	0.06991	-0.447000	0.07138	-0.810000	0.03169	CCT		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378	
ZNF365	22891	hgsc.bcm.edu;ucsc.edu	37	10	64159446	64159446	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:64159446C>G	ENST00000395254.3	+	5	1402	c.1122C>G	c.(1120-1122)tgC>tgG	p.C374W	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGACCTCTGCAGACCTCCAA	0.522																																																	0													85.0	85.0	85.0					10																	64159446		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1122C>G	10.37:g.64159446C>G	ENSP00000378674:p.Cys374Trp			Missense_Mutation	SNP	ENST00000395254.3	37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	9.917	1.211140	0.22289	.	.	ENSG00000138311	ENST00000395254	T	0.41065	1.01	5.76	3.86	0.44501	.	.	.	.	.	T	0.16171	0.0389	N	0.04203	-0.255	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11891	-1.0569	9	0.05436	T	0.98	.	7.5414	0.27740	0.0:0.6128:0.2893:0.0979	.	374;389	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	W	374	ENSP00000378674:C374W	ENSP00000378674:C374W	C	+	3	2	ZNF365	63829452	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.309000	0.43699	1.432000	0.47375	0.650000	0.86243	TGC		0.522	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2		NM_014951	
ZP1	22917	hgsc.bcm.edu	37	11	60637829	60637829	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr11:60637829G>A	ENST00000278853.5	+	4	707	c.707G>A	c.(706-708)tGc>tAc	p.C236Y		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	236	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGGAGCAGTGCCAGGTGGCC	0.557																																																	0													50.0	46.0	47.0					11																	60637829		2203	4299	6502	SO:0001583	missense	22917			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.707G>A	11.37:g.60637829G>A	ENSP00000278853:p.Cys236Tyr			Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631459	0.46944	.	.	ENSG00000149506	ENST00000278853	T	0.44083	0.93	4.93	4.93	0.64822	P-type trefoil (3);	0.000000	0.47455	D	0.000239	T	0.62454	0.2429	M	0.67953	2.075	0.53005	D	0.999963	D	0.67145	0.996	D	0.69824	0.966	T	0.66779	-0.5837	10	0.87932	D	0	-24.8083	15.914	0.79496	0.0:0.0:1.0:0.0	.	236	P60852	ZP1_HUMAN	Y	236	ENSP00000278853:C236Y	ENSP00000278853:C236Y	C	+	2	0	ZP1	60394405	0.996000	0.38824	0.959000	0.39883	0.192000	0.23643	2.778000	0.47726	2.281000	0.76405	0.467000	0.42956	TGC		0.557	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1		NM_207341	
