#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	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_dbSNPPopFreq	i_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
RERE	473	hgsc.bcm.edu	37	1	8418319	8418319	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:8418319G>A	ENST00000337907.3	-	21	4910	c.4276C>T	c.(4276-4278)Cat>Tat	p.H1426Y	RERE_ENST00000377464.1_Missense_Mutation_p.H1158Y|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.H872Y|RERE_ENST00000400908.2_Missense_Mutation_p.H1426Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1426	His-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tgctggtgatggtgCGGAGTC	0.647																																					p.H1426Y		Atlas-SNP	.											.	RERE	129	.	0			c.C4276T						.						132.0	106.0	115.0					1																	8418319		2203	4300	6503	SO:0001583	missense	473	exon21			GGTGATGGTGCGG	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4276C>T	chr1.hg19:g.8418319G>A	ENSP00000338629:p.His1426Tyr	66.0	0.0		38.0	7.0	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112835	0.77210	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.52057	0.68;0.71;0.68	5.61	5.61	0.85477	.	.	.	.	.	T	0.68879	0.3049	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.65022	-0.6269	9	0.36615	T	0.2	-17.8192	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1426	Q9P2R6	RERE_HUMAN	Y	1426;1158;872;1426	ENSP00000338629:H1426Y;ENSP00000366684:H1158Y;ENSP00000383700:H1426Y	ENSP00000338629:H1426Y	H	-	1	0	RERE	8340906	1.000000	0.71417	0.993000	0.49108	0.846000	0.48090	9.723000	0.98772	2.793000	0.96121	0.655000	0.94253	CAT	.	.		0.647	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
SH2D5	400745	hgsc.bcm.edu	37	1	21048322	21048322	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:21048322T>A	ENST00000444387.2	-	10	1632	c.1235A>T	c.(1234-1236)cAt>cTt	p.H412L	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.H328L	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	412										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGACTTGGCATGGCTGAGGGG	0.716																																					p.H412L		Atlas-SNP	.											.	SH2D5	26	.	0			c.A1235T						.						10.0	13.0	12.0					1																	21048322		1835	4061	5896	SO:0001583	missense	400745	exon10			TTGGCATGGCTGA	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.1235A>T	chr1.hg19:g.21048322T>A	ENSP00000406026:p.His412Leu	129.0	0.0		116.0	34.0	NM_001103161	B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	hg19	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316354	0.81469	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	5.01	5.01	0.66863	.	0.000000	0.46145	D	0.000317	T	0.43523	0.1251	N	0.24115	0.695	0.33567	D	0.598058	D	0.56968	0.978	P	0.53649	0.731	T	0.58323	-0.7656	9	0.52906	T	0.07	.	8.9444	0.35749	0.0:0.0887:0.0:0.9113	.	412	Q6ZV89	SH2D5_HUMAN	L	328;412	.	ENSP00000364171:H328L	H	-	2	0	SH2D5	20920909	0.997000	0.39634	0.997000	0.53966	0.982000	0.71751	2.889000	0.48601	1.888000	0.54679	0.460000	0.39030	CAT	.	.		0.716	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698	
GPR3	2827	hgsc.bcm.edu	37	1	27721062	27721062	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:27721062G>C	ENST00000374024.3	+	2	859	c.760G>C	c.(760-762)Gga>Cga	p.G254R		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	254					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGTGCTTGGAGCCTTTGC	0.627																																					p.G254R		Atlas-SNP	.											.	GPR3	23	.	0			c.G760C						.						175.0	138.0	150.0					1																	27721062		2203	4300	6503	SO:0001583	missense	2827	exon2			GTGCTTGGAGCCT	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.760G>C	chr1.hg19:g.27721062G>C	ENSP00000363136:p.Gly254Arg	48.0	0.0		56.0	15.0	NM_005281	A8K570	Missense_Mutation	SNP	ENST00000374024.3	hg19	CCDS303.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591157	0.66219	.	.	ENSG00000181773	ENST00000374024	T	0.38401	1.14	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.205916	0.42821	D	0.000645	T	0.74038	0.3664	H	0.96547	3.84	0.50039	D	0.999848	D	0.89917	1.0	D	0.97110	1.0	T	0.82643	-0.0356	10	0.87932	D	0	.	19.3241	0.94254	0.0:0.0:1.0:0.0	.	254	P46089	GPR3_HUMAN	R	254	ENSP00000363136:G254R	ENSP00000363136:G254R	G	+	1	0	GPR3	27593649	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.541000	0.82084	2.655000	0.90218	0.462000	0.41574	GGA	.	.		0.627	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281	
SMIM12	113444	hgsc.bcm.edu	37	1	35321400	35321400	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:35321400T>A	ENST00000521580.2	-	2	323	c.179A>T	c.(178-180)gAg>gTg	p.E60V	SMIM12_ENST00000456842.1_Missense_Mutation_p.E60V|SMIM12_ENST00000423898.1_Missense_Mutation_p.E60V|SMIM12_ENST00000446026.1_Missense_Mutation_p.E60V|SMIM12_ENST00000417239.1_Missense_Mutation_p.E60V	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3	Q96EX1	SIM12_HUMAN	small integral membrane protein 12	60						integral component of membrane (GO:0016021)											GCCTAGAAGCTCATCCAGCTT	0.552																																					p.E60V		Atlas-SNP	.											.	.	.	.	0			c.A179T						.						93.0	86.0	88.0					1																	35321400		692	1591	2283	SO:0001583	missense	113444	exon3			AGAAGCTCATCCA		CCDS53295.1	1p34.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000163866	ENSG00000163866			25154	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 212"""	C1orf212		12477932	Standard	NM_138428		Approved	FLJ90372	uc001byb.3	Q96EX1	OTTHUMG00000004375	ENST00000521580.2:c.179A>T	chr1.hg19:g.35321400T>A	ENSP00000428585:p.Glu60Val	102.0	0.0		120.0	37.0	NM_001164824	D3DPR5|Q49AP7|Q52LP9|Q8NCB4	Missense_Mutation	SNP	ENST00000521580.2	hg19	CCDS53295.1	.	.	.	.	.	.	.	.	.	.	T	32	5.162336	0.94727	.	.	ENSG00000163866	ENST00000521580;ENST00000446026;ENST00000456842;ENST00000423898;ENST00000417239	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	T	0.76492	0.3995	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79391	-0.1823	5	0.87932	D	0	.	15.9408	0.79754	0.0:0.0:0.0:1.0	.	.	.	.	V	60	.	ENSP00000428541:E60V	E	-	2	0	C1orf212	35093987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.933000	0.87642	2.251000	0.74343	0.482000	0.46254	GAG	.	.		0.552	SMIM12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012715.3	NM_138428	
ZMYM1	79830	hgsc.bcm.edu	37	1	35580361	35580361	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:35580361A>G	ENST00000373330.1	+	11	3104	c.2930A>G	c.(2929-2931)cAa>cGa	p.Q977R	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.Q977R			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	977						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTATATTACAAAATTTAAAG	0.254																																					p.Q977R		Atlas-SNP	.											.	ZMYM1	86	.	0			c.A2930G						.						15.0	15.0	15.0					1																	35580361		1762	3974	5736	SO:0001583	missense	79830	exon10			TATTACAAAATTT	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2930A>G	chr1.hg19:g.35580361A>G	ENSP00000362427:p.Gln977Arg	241.0	0.0		275.0	78.0	NM_024772	D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	hg19	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	A	0.941	-0.709646	0.03230	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.18016	2.5;2.24;2.5	4.1	2.98	0.34508	Ribonuclease H-like (1);	0.541346	0.15579	N	0.255008	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.23442	0.085;0.035	B;B	0.19666	0.026;0.018	T	0.33394	-0.9870	9	.	.	.	-0.2559	4.3683	0.11235	0.6936:0.2023:0.1041:0.0	.	958;977	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	R	977;902;977	ENSP00000352920:Q977R;ENSP00000362426:Q902R;ENSP00000362427:Q977R	.	Q	+	2	0	ZMYM1	35352948	0.981000	0.34729	0.761000	0.31378	0.004000	0.04260	2.192000	0.42649	0.925000	0.37094	-0.385000	0.06624	CAA	.	.		0.254	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772	
ZFP69	339559	hgsc.bcm.edu	37	1	40955271	40955271	+	Missense_Mutation	SNP	A	A	T	rs148845197	byFrequency	TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:40955271A>T	ENST00000372706.1	+	5	1423	c.417A>T	c.(415-417)aaA>aaT	p.K139N	ZFP69_ENST00000482712.1_3'UTR|ZFP69_ENST00000372705.3_Missense_Mutation_p.K139N			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	139	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGGCAGAGAAAGAAGGCCCAG	0.383																																					p.K139N		Atlas-SNP	.											.	.	.	.	0			c.A417T						.						146.0	161.0	156.0					1																	40955271		2203	4300	6503	SO:0001583	missense	339559	exon5			AGAGAAAGAAGGC	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.417A>T	chr1.hg19:g.40955271A>T	ENSP00000361791:p.Lys139Asn	109.0	0.0		155.0	48.0	NM_198494	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	hg19	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311804	0.40895	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04970	3.52;3.52	4.13	1.5	0.22942	Krueppel-associated box (1);	0.779497	0.10939	N	0.617447	T	0.04272	0.0118	N	0.25031	0.7	0.23277	N	0.997996	B	0.02656	0.0	B	0.04013	0.001	T	0.41945	-0.9480	10	0.51188	T	0.08	-4.1434	3.1102	0.06356	0.5946:0.0:0.1124:0.293	.	139	Q49AA0	ZN642_HUMAN	N	139	ENSP00000361791:K139N;ENSP00000361790:K139N	ENSP00000361790:K139N	K	+	3	2	ZNF642	40727858	0.325000	0.24660	0.996000	0.52242	0.997000	0.91878	1.156000	0.31712	0.267000	0.21916	0.533000	0.62120	AAA	.	A|0.997;G|0.003		0.383	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494	
TIE1	7075	hgsc.bcm.edu	37	1	43774798	43774798	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:43774798T>C	ENST00000372476.3	+	8	1263	c.1184T>C	c.(1183-1185)cTc>cCc	p.L395P	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Missense_Mutation_p.L40P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	395	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCACTGTGCTCCTGGTCAGC	0.617																																					p.L395P		Atlas-SNP	.											.	TIE1	132	.	0			c.T1184C						.						41.0	44.0	43.0					1																	43774798		2203	4300	6503	SO:0001583	missense	7075	exon8			CTGTGCTCCTGGT	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1184T>C	chr1.hg19:g.43774798T>C	ENSP00000361554:p.Leu395Pro	143.0	0.0		167.0	48.0	NM_005424	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	hg19	CCDS482.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465736	0.84425	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.40756	2.25;1.02	5.13	5.13	0.70059	Immunoglobulin-like fold (1);	0.215542	0.23409	N	0.048481	T	0.63546	0.2520	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.993;0.994;0.975;0.988;1.0	D;D;D;P;D	0.72075	0.912;0.947;0.916;0.819;0.976	T	0.67917	-0.5546	10	0.87932	D	0	.	14.9642	0.71179	0.0:0.0:0.0:1.0	.	40;350;395;40;395	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	P	395;40	ENSP00000361554:L395P;ENSP00000411728:L40P	ENSP00000361554:L395P	L	+	2	0	TIE1	43547385	1.000000	0.71417	0.614000	0.29051	0.984000	0.73092	7.662000	0.83803	1.941000	0.56285	0.460000	0.39030	CTC	.	.		0.617	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
FPGT-TNNI3K	100526835	hgsc.bcm.edu	37	1	74716453	74716453	+	Splice_Site	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:74716453G>A	ENST00000370899.3	+	6	673	c.636G>A	c.(634-636)aaG>aaA	p.K212K	TNNI3K_ENST00000370891.2_Splice_Site_p.K212K|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.K212K|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.K225K|TNNI3K_ENST00000326637.3_Splice_Site_p.K111K	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CAGTTTACAAGGTAGGACACT	0.353																																					p.K212K		Atlas-SNP	.											.	.	.	.	0			c.G636A						.						83.0	77.0	79.0					1																	74716453		2203	4300	6503	SO:0001630	splice_region_variant	100526835	exon6			TTACAAGGTAGGA			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.636+1G>A	chr1.hg19:g.74716453G>A		61.0	0.0		60.0	19.0	NM_001199327		Silent	SNP	ENST00000370899.3	hg19																																																																																				.	.		0.353	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		Silent
ZNF644	84146	hgsc.bcm.edu	37	1	91406719	91406719	+	Silent	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:91406719T>C	ENST00000370440.1	-	3	409	c.192A>G	c.(190-192)acA>acG	p.T64T	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.T64T|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTGAAATGATGTTTGACAAT	0.373																																					p.T64T		Atlas-SNP	.											.	ZNF644	120	.	0			c.A192G						.						167.0	163.0	164.0					1																	91406719		2203	4300	6503	SO:0001819	synonymous_variant	84146	exon3			AAATGATGTTTGA	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.192A>G	chr1.hg19:g.91406719T>C		123.0	0.0		125.0	38.0	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	hg19	CCDS731.1																																																																																			.	.		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
FNDC7	163479	hgsc.bcm.edu	37	1	109265059	109265059	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:109265059T>C	ENST00000370017.3	+	5	978	c.701T>C	c.(700-702)aTg>aCg	p.M234T	FNDC7_ENST00000271311.2_Missense_Mutation_p.M235T	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	234	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TATACTGTGATGGCTTTGAGC	0.483																																					p.M234T		Atlas-SNP	.											.	FNDC7	113	.	0			c.T701C						.						95.0	88.0	91.0					1																	109265059		2203	4300	6503	SO:0001583	missense	163479	exon5			CTGTGATGGCTTT		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.701T>C	chr1.hg19:g.109265059T>C	ENSP00000359034:p.Met234Thr	95.0	0.0		139.0	7.0	NM_001144937	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	hg19	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	T	7.155	0.584613	0.13749	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.52295	0.67;0.67	5.78	0.599	0.17519	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.755938	0.13995	N	0.348530	T	0.05686	0.0149	N	0.08118	0	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35895	-0.9770	10	0.08837	T	0.75	-0.9092	1.9873	0.03439	0.1227:0.226:0.1261:0.5252	.	235;234	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	T	234;235	ENSP00000359034:M234T;ENSP00000271311:M235T	ENSP00000271311:M235T	M	+	2	0	FNDC7	109066582	0.856000	0.29760	0.219000	0.23793	0.936000	0.57629	1.205000	0.32308	0.091000	0.17302	0.374000	0.22700	ATG	.	.		0.483	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532	
VANGL1	81839	hgsc.bcm.edu	37	1	116206555	116206555	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:116206555C>T	ENST00000355485.2	+	4	749	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F	VANGL1_ENST00000369510.4_Missense_Mutation_p.L158F|VANGL1_ENST00000310260.3_Missense_Mutation_p.L160F|VANGL1_ENST00000369509.1_Missense_Mutation_p.L160F	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	160					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGCATTCAAACTCCTCATTCT	0.512																																					p.L160F		Atlas-SNP	.											.	VANGL1	65	.	0			c.C478T						.						121.0	124.0	123.0					1																	116206555		2203	4300	6503	SO:0001583	missense	81839	exon4			TTCAAACTCCTCA	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.478C>T	chr1.hg19:g.116206555C>T	ENSP00000347672:p.Leu160Phe	87.0	0.0		105.0	38.0	NM_001172412	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	hg19	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815675	0.90790	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94530	0.7735	10	0.66056	D	0.02	-0.168	19.4118	0.94677	0.0:1.0:0.0:0.0	.	158;160	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	F	160;158;160;160	ENSP00000347672:L160F;ENSP00000358523:L158F;ENSP00000310800:L160F;ENSP00000358522:L160F	ENSP00000310800:L160F	L	+	1	0	VANGL1	116008078	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.487000	0.81328	2.662000	0.90505	0.650000	0.86243	CTC	.	.		0.512	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
RPRD2	23248	hgsc.bcm.edu	37	1	150437119	150437119	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:150437119A>G	ENST00000369068.4	+	10	1532	c.1528A>G	c.(1528-1530)Atc>Gtc	p.I510V	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.I484V|RPRD2_ENST00000539519.1_Missense_Mutation_p.I484V	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	510	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTGGCAAATATCCTCTCCAA	0.547											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I510V		Atlas-SNP	.											.	RPRD2	189	.	0			c.A1528G						.						90.0	102.0	98.0					1																	150437119		2044	4189	6233	SO:0001583	missense	23248	exon10			GCAAATATCCTCT	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1528A>G	chr1.hg19:g.150437119A>G	ENSP00000358064:p.Ile510Val	62.0	0.0	1732	108.0	37.0	NM_015203	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	hg19	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728496	0.69074	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.56941	0.54;0.51;0.43	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.61703	1.905	0.41573	D	0.988691	P;P;P	0.50528	0.766;0.894;0.936	B;P;P	0.52424	0.33;0.502;0.698	T	0.55755	-0.8091	10	0.46703	T	0.11	-13.1513	15.4877	0.75578	1.0:0.0:0.0:0.0	.	484;510;484	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	V	484;484;510	ENSP00000383785:I484V;ENSP00000445482:I484V;ENSP00000358064:I510V	ENSP00000358064:I510V	I	+	1	0	RPRD2	148703743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.347000	0.65998	2.248000	0.74166	0.533000	0.62120	ATC	.	.		0.547	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
PRG4	10216	hgsc.bcm.edu	37	1	186282008	186282008	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:186282008T>A	ENST00000445192.2	+	12	4144	c.4099T>A	c.(4099-4101)Tac>Aac	p.Y1367N	RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1324N|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1326N|TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367484.3_Missense_Mutation_p.Y896N|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1274N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1367					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CGGCTATGATTACTATGCCTT	0.373																																					p.Y1367N		Atlas-SNP	.											.	PRG4	259	.	0			c.T4099A						.						107.0	101.0	103.0					1																	186282008		2203	4300	6503	SO:0001583	missense	10216	exon12			TATGATTACTATG	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.4099T>A	chr1.hg19:g.186282008T>A	ENSP00000399679:p.Tyr1367Asn	85.0	0.0		172.0	78.0	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	hg19	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390499	0.62066	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.78	5.78	0.91487	Hemopexin/matrixin (2);	0.000000	0.41500	D	0.000863	T	0.68522	0.3010	M	0.70275	2.135	0.48830	D	0.999713	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.72070	-0.4401	10	0.87932	D	0	-6.1025	15.7842	0.78289	0.0:0.0:0.0:1.0	.	1233;1274;1367;1326	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	1324;896;1326;1274;1367	ENSP00000356456:Y1324N;ENSP00000356454:Y896N;ENSP00000356453:Y1326N;ENSP00000356455:Y1274N;ENSP00000399679:Y1367N	ENSP00000356453:Y1326N	Y	+	1	0	PRG4	184548631	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.109000	0.64615	2.206000	0.71126	0.477000	0.44152	TAC	.	.		0.373	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
CFH	3075	hgsc.bcm.edu	37	1	196648796	196648796	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:196648796A>G	ENST00000359637.2	+	5	533	c.471A>G	c.(469-471)atA>atG	p.I157M	CFH_ENST00000439155.2_Missense_Mutation_p.I221M|CFH_ENST00000367429.4_Missense_Mutation_p.I221M			P08603	CFAH_HUMAN	complement factor H	221	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATCTCCTATATCTCAGAAGA	0.313																																					p.I221M		Atlas-SNP	.											.	CFH	251	.	0			c.A663G						.						54.0	58.0	57.0					1																	196648796		2203	4297	6500	SO:0001583	missense	3075	exon6			TCCTATATCTCAG	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.471A>G	chr1.hg19:g.196648796A>G	ENSP00000352658:p.Ile157Met	165.0	0.0		300.0	77.0	NM_001014975	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	hg19		.	.	.	.	.	.	.	.	.	.	A	14.23	2.474628	0.43942	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.67698	-0.28;-0.28;-0.28	5.99	-2.77	0.05877	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.66197	0.2765	M	0.71581	2.175	0.09310	N	1	P;P;D;P	0.55605	0.837;0.852;0.972;0.86	P;P;P;B	0.52424	0.698;0.579;0.698;0.331	T	0.57493	-0.7802	9	0.27785	T	0.31	.	4.6656	0.12664	0.2978:0.0:0.1543:0.5479	.	157;221;221;221	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	M	221;221;221;157	ENSP00000356399:I221M;ENSP00000402656:I221M;ENSP00000352658:I157M	ENSP00000352658:I157M	I	+	3	3	CFH	194915419	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.081000	0.03403	-0.387000	0.07809	0.533000	0.62120	ATA	.	.		0.313	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
NR5A2	2494	hgsc.bcm.edu	37	1	200017315	200017315	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:200017315G>A	ENST00000367362.3	+	5	725	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	NR5A2_ENST00000544748.1_Missense_Mutation_p.R88Q|NR5A2_ENST00000236914.3_Missense_Mutation_p.R114Q	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	160					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGGGCCGACCGAATGCGTGGA	0.463																																					p.R160K	Melanoma(179;1138 2773 15678 26136)	Atlas-SNP	.											.	NR5A2	83	.	0			c.G479A						.						68.0	70.0	69.0					1																	200017315		2203	4300	6503	SO:0001583	missense	2494	exon5			CCGACCGAATGCG	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.479G>A	chr1.hg19:g.200017315G>A	ENSP00000356331:p.Arg160Gln	91.0	0.0		153.0	36.0	NM_205860	B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	hg19	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.430947|5.430947	0.96150|0.96150	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367357|ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	.|T;T;T	.|0.78707	.|-1.2;-1.2;-1.2	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88855|0.88855	0.6550|0.6550	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.87633|0.87633	0.2517|0.2517	5|9	.|.	.|.	.|.	.|.	20.312|20.312	0.98644|0.98644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|114;160	.|F1D8R9;O00482	.|.;NR5A2_HUMAN	K|Q	81|160;114;88;80	.|ENSP00000356331:R160Q;ENSP00000236914:R114Q;ENSP00000439116:R88Q	.|.	E|R	+|+	1|2	0|0	NR5A2|NR5A2	198283938|198283938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.747000|9.747000	0.98863|0.98863	2.866000|2.866000	0.98385|0.98385	0.650000|0.650000	0.86243|0.86243	GAA|CGA	.	.		0.463	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2		
IL10	3586	hgsc.bcm.edu	37	1	206941984	206941984	+	Silent	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:206941984G>A	ENST00000423557.1	-	5	592	c.534C>T	c.(532-534)aaC>aaT	p.N178N	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	178					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TGATGTCTCAGTTTCGTATCT	0.463																																					p.N178N		Atlas-SNP	.											.	IL10	22	.	0			c.C534T						.						139.0	118.0	125.0					1																	206941984		2203	4300	6503	SO:0001819	synonymous_variant	3586	exon5			GTCTCAGTTTCGT	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.534C>T	chr1.hg19:g.206941984G>A		61.0	0.0		78.0	37.0	NM_000572		Silent	SNP	ENST00000423557.1	hg19	CCDS1467.1																																																																																			.	.		0.463	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	
C4BPA	722	hgsc.bcm.edu	37	1	207288805	207288805	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr1:207288805G>A	ENST00000367070.3	+	4	567	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	125	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGGCAAGTAGAGATTAAGAC	0.348																																					p.E125K		Atlas-SNP	.											.	C4BPA	70	.	0			c.G373A						.						103.0	102.0	102.0					1																	207288805		2203	4300	6503	SO:0001583	missense	722	exon4			CAAGTAGAGATTA	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.373G>A	chr1.hg19:g.207288805G>A	ENSP00000356037:p.Glu125Lys	107.0	0.0		172.0	51.0	NM_000715	Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	hg19	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	9.410	1.080358	0.20309	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.63255	-0.03;-0.03	5.36	2.14	0.27477	Complement control module (2);Sushi/SCR/CCP (3);	1.727610	0.02959	N	0.142827	T	0.55130	0.1901	L	0.27944	0.81	0.09310	N	1	B	0.32031	0.352	P	0.44394	0.448	T	0.48885	-0.8995	10	0.06236	T	0.91	.	6.0865	0.19970	0.4824:0.0:0.5176:0.0	.	125	P04003	C4BPA_HUMAN	K	125	ENSP00000356037:E125K;ENSP00000403386:E125K	ENSP00000356037:E125K	E	+	1	0	C4BPA	205355428	0.047000	0.20315	0.003000	0.11579	0.022000	0.10575	0.318000	0.19504	0.588000	0.29660	0.585000	0.79938	GAG	.	.		0.348	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3		
RASGRP3	25780	hgsc.bcm.edu	37	2	33749508	33749508	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:33749508C>A	ENST00000403687.3	+	9	1440	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	RASGRP3_ENST00000402538.3_Missense_Mutation_p.Q234K|RASGRP3_ENST00000407811.1_Missense_Mutation_p.Q234K	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	234	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAAGCTCCTTCAGCTCAAAAA	0.348																																					p.Q234K		Atlas-SNP	.											.	RASGRP3	87	.	0			c.C700A						.						50.0	47.0	48.0					2																	33749508		1821	4084	5905	SO:0001583	missense	25780	exon10			CTCCTTCAGCTCA	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.700C>A	chr2.hg19:g.33749508C>A	ENSP00000384192:p.Gln234Lys	125.0	0.0		149.0	53.0	NM_170672	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	hg19	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810636	0.50421	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.26957	1.7;1.7;1.7	5.34	5.34	0.76211	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.064270	0.64402	D	0.000007	T	0.20659	0.0497	N	0.21282	0.65	0.31990	N	0.604737	B;B	0.31859	0.343;0.343	B;B	0.36092	0.217;0.217	T	0.18967	-1.0320	10	0.38643	T	0.18	-13.3663	13.3651	0.60678	0.0:0.9248:0.0:0.0752	.	234;234	D6W583;Q8IV61	.;GRP3_HUMAN	K	234	ENSP00000385886:Q234K;ENSP00000384192:Q234K;ENSP00000383917:Q234K	ENSP00000385886:Q234K	Q	+	1	0	RASGRP3	33603012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.723000	0.54955	2.496000	0.84212	0.655000	0.94253	CAG	.	.		0.348	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	
USP34	9736	hgsc.bcm.edu	37	2	61441503	61441503	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:61441503T>C	ENST00000398571.2	-	68	8450	c.8374A>G	c.(8374-8376)Ata>Gta	p.I2792V	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2792					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTGTAGCTATTGCTGGCTCA	0.388																																					p.I2792V		Atlas-SNP	.											.	USP34	334	.	0			c.A8374G						.						114.0	108.0	110.0					2																	61441503		1881	4112	5993	SO:0001583	missense	9736	exon68			TAGCTATTGCTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8374A>G	chr2.hg19:g.61441503T>C	ENSP00000381577:p.Ile2792Val	125.0	0.0		151.0	53.0	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	hg19	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.38|14.38	2.519649|2.519649	0.44866|0.44866	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.39406|.	1.08|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57902|0.57902	0.2085|0.2085	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P|.	0.35745|.	0.518|.	P|.	0.47827|.	0.558|.	T|T	0.54241|0.54241	-0.8323|-0.8323	10|5	0.25106|.	T|.	0.35|.	.|.	16.1095|16.1095	0.81250|0.81250	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2792|.	Q70CQ2|.	UBP34_HUMAN|.	V|S	2640;2640;2792|551	ENSP00000381577:I2792V|.	ENSP00000263989:I2640V|.	I|N	-|-	1|2	0|0	USP34|USP34	61295007|61295007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.013000|8.013000	0.88655|0.88655	2.210000|2.210000	0.71456|0.71456	0.482000|0.482000	0.46254|0.46254	ATA|AAT	.	.		0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
TET3	200424	hgsc.bcm.edu	37	2	74274165	74274165	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:74274165C>G	ENST00000409262.3	+	1	716	c.716C>G	c.(715-717)tCt>tGt	p.S239C		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	239					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGCAGCCTTCTCATTCCACC	0.597																																					p.S239C		Atlas-SNP	.											.	TET3	101	.	0			c.C716G						.						45.0	49.0	48.0					2																	74274165		2048	4196	6244	SO:0001583	missense	200424	exon1			AGCCTTCTCATTC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.716C>G	chr2.hg19:g.74274165C>G	ENSP00000386869:p.Ser239Cys	52.0	0.0		69.0	26.0	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	hg19	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901326	0.52227	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.25912	1.77;2.6	5.84	5.84	0.93424	.	.	.	.	.	T	0.24699	0.0599	N	0.14661	0.345	0.25373	N	0.988682	D	0.63880	0.993	P	0.49999	0.628	T	0.13548	-1.0505	9	0.72032	D	0.01	.	13.8201	0.63315	0.1533:0.8467:0.0:0.0	.	239	O43151	TET3_HUMAN	C	281;239;239	ENSP00000307803:S281C;ENSP00000386869:S239C	ENSP00000233310:S239C	S	+	2	0	TET3	74127673	0.012000	0.17670	1.000000	0.80357	0.990000	0.78478	2.360000	0.44151	2.768000	0.95171	0.561000	0.74099	TCT	.	.		0.597	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
GCFC2	6936	hgsc.bcm.edu	37	2	75937765	75937765	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:75937765T>A	ENST00000321027.3	-	1	350	c.217A>T	c.(217-219)Agc>Tgc	p.S73C	GCFC2_ENST00000409857.3_Missense_Mutation_p.S73C|GCFC2_ENST00000470503.1_Missense_Mutation_p.S73C|GCFC2_ENST00000541687.1_Missense_Mutation_p.S73C	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	73					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										CGCCGGGAGCTCGCCCAGACC	0.756																																					p.S73C		Atlas-SNP	.											.	.	.	.	0			c.A217T						.						2.0	2.0	2.0					2																	75937765		1340	2997	4337	SO:0001583	missense	6936	exon1			GGGAGCTCGCCCA	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.217A>T	chr2.hg19:g.75937765T>A	ENSP00000318690:p.Ser73Cys	47.0	0.0		35.0	16.0	NM_001201335	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	hg19	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466362	0.43839	.	.	ENSG00000005436	ENST00000321027;ENST00000541687;ENST00000409857;ENST00000442309	T;T;T;T	0.52057	1.94;0.88;1.34;0.68	3.76	2.59	0.31030	.	1.482010	0.03709	N	0.249902	T	0.61098	0.2320	L	0.60455	1.87	0.27845	N	0.94097	D;D	0.76494	0.999;0.992	P;P	0.60345	0.873;0.615	T	0.33574	-0.9863	10	0.62326	D	0.03	-3.2265	6.0083	0.19559	0.0:0.1192:0.0:0.8808	.	73;73	A4UHQ8;P16383	.;GCF_HUMAN	C	73	ENSP00000318690:S73C;ENSP00000437767:S73C;ENSP00000386552:S73C;ENSP00000415831:S73C	ENSP00000318690:S73C	S	-	1	0	C2orf3	75791273	0.696000	0.27757	0.880000	0.34516	0.062000	0.15995	1.811000	0.38942	0.793000	0.33875	-0.451000	0.05528	AGC	.	.		0.756	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203	
CHST10	9486	hgsc.bcm.edu	37	2	101014387	101014387	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:101014387A>G	ENST00000264249.3	-	5	795	c.410T>C	c.(409-411)gTg>gCg	p.V137A	CHST10_ENST00000542617.1_Missense_Mutation_p.V185A|CHST10_ENST00000409701.1_Missense_Mutation_p.V137A	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	137					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AACAATCAGCACTTTCTTCCA	0.522																																					p.V137A		Atlas-SNP	.											.	CHST10	42	.	0			c.T410C						.						149.0	135.0	140.0					2																	101014387		2203	4300	6503	SO:0001583	missense	9486	exon5			ATCAGCACTTTCT	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.410T>C	chr2.hg19:g.101014387A>G	ENSP00000264249:p.Val137Ala	83.0	0.0		103.0	30.0	NM_004854	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	hg19	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135354	0.77662	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.85274	0.5659	M	0.78344	2.41	0.80722	D	1	D	0.56968	0.978	D	0.64410	0.925	D	0.86263	0.1656	10	0.51188	T	0.08	-28.2325	15.7533	0.78005	1.0:0.0:0.0:0.0	.	137	O43529	CHSTA_HUMAN	A	137;185;137;137	ENSP00000264249:V137A;ENSP00000438869:V185A;ENSP00000387309:V137A;ENSP00000387121:V137A	ENSP00000264249:V137A	V	-	2	0	CHST10	100380819	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	9.339000	0.96797	2.123000	0.65237	0.533000	0.62120	GTG	.	.		0.522	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
MAP3K2	10746	hgsc.bcm.edu	37	2	128065257	128065257	+	Silent	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:128065257G>C	ENST00000409947.1	-	17	2040	c.1758C>G	c.(1756-1758)gtC>gtG	p.V586V	MAP3K2_ENST00000344908.5_Silent_p.V586V			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	586	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TATAGTCTGAGACATGAGGTG	0.443																																					p.V586V		Atlas-SNP	.											.	MAP3K2	78	.	0			c.C1758G						.						71.0	75.0	74.0					2																	128065257		2081	4222	6303	SO:0001819	synonymous_variant	10746	exon16			GTCTGAGACATGA	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1758C>G	chr2.hg19:g.128065257G>C		114.0	0.0		131.0	36.0	NM_006609	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	hg19	CCDS46404.1																																																																																			.	.		0.443	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609	
LRP1B	53353	hgsc.bcm.edu	37	2	141812829	141812829	+	Splice_Site	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:141812829C>A	ENST00000389484.3	-	10	2380		c.e10-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGCTTCTGACTACAACAAAT	0.398										TSP Lung(27;0.18)																											.	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.1409-1G>T						.						74.0	67.0	70.0					2																	141812829		2203	4300	6503	SO:0001630	splice_region_variant	53353	exon11			TTCTGACTACAAC	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1409-1G>T	chr2.hg19:g.141812829C>A		78.0	0.0		75.0	19.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572186	0.86542	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2912	0.94100	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	141529299	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.396000	0.79891	2.569000	0.86673	0.557000	0.71058	.	.	.		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron
NEB	4703	hgsc.bcm.edu	37	2	152350375	152350375	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:152350375A>G	ENST00000172853.10	-	142	19165	c.19018T>C	c.(19018-19020)Tac>Cac	p.Y6340H	NEB_ENST00000498015.2_Intron|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.Y171H|NEB_ENST00000604864.1_Missense_Mutation_p.Y8196H|NEB_ENST00000509223.2_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.Y8196H|NEB_ENST00000603639.1_Missense_Mutation_p.Y8196H|NEB_ENST00000427231.2_Missense_Mutation_p.Y8196H|NEB_ENST00000409198.1_Missense_Mutation_p.Y6340H			P20929	NEBU_HUMAN	nebulin	6340					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCTTTGTATAACACCTGT	0.393																																					p.Y8231H		Atlas-SNP	.											.	NEB	1697	.	0			c.T24691C						.						58.0	54.0	55.0					2																	152350375		1823	4078	5901	SO:0001583	missense	4703	exon176			CTTTGTATAACAC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19018T>C	chr2.hg19:g.152350375A>G	ENSP00000172853:p.Tyr6340His	83.0	0.0		97.0	31.0	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.67|19.67	3.871833|3.871833	0.72180|0.72180	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000397336	.|D;D;D;D;D	.|0.99958	.|-9.03;-9.03;-9.03;-9.03;-9.03	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.229361	.|0.46145	.|D	.|0.000314	D|D	0.99963|0.99963	0.9985|0.9985	H|H	0.95611|0.95611	3.695|3.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.96009|0.96009	0.9000|0.9000	5|10	.|0.87932	.|D	.|0	.|.	16.0454|16.0454	0.80717|0.80717	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|171;6340;8196	.|B7Z6P9;P20929;F8WCL5	.|.;NEBU_HUMAN;.	T|H	341|6340;8196;8196;6340;171	.|ENSP00000386259:Y6340H;ENSP00000380505:Y8196H;ENSP00000416578:Y8196H;ENSP00000172853:Y6340H;ENSP00000380497:Y171H	.|ENSP00000172853:Y6340H	I|Y	-|-	2|1	0|0	NEB|NEB	152058621|152058621	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.931000|0.931000	0.56810|0.56810	7.003000|7.003000	0.76310|0.76310	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	ATA|TAC	.	.		0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
FAP	2191	hgsc.bcm.edu	37	2	163059608	163059608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:163059608G>T	ENST00000188790.4	-	13	1302	c.1095C>A	c.(1093-1095)taC>taA	p.Y365*	FAP_ENST00000443424.1_Nonsense_Mutation_p.Y340*	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAAATATTTTGTAGTACGAAA	0.338																																					p.Y365X		Atlas-SNP	.											FAP,NS,carcinoma,0,1	FAP	122	.	0			c.C1095A						.						82.0	78.0	79.0					2																	163059608		2203	4299	6502	SO:0001587	stop_gained	2191	exon13			TATTTTGTAGTAC	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1095C>A	chr2.hg19:g.163059608G>T	ENSP00000188790:p.Tyr365*	89.0	0.0		94.0	19.0	NM_004460		Nonsense_Mutation	SNP	ENST00000188790.4	hg19	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	39	7.431903	0.98279	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3153	20.3011	0.98612	0.0:0.0:1.0:0.0	.	.	.	.	X	365;340	.	ENSP00000188790:Y365X	Y	-	3	2	FAP	162767854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.250000	0.78287	2.804000	0.96469	0.650000	0.86243	TAC	.	.		0.338	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
AOX1	316	hgsc.bcm.edu	37	2	201462122	201462122	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:201462122A>G	ENST00000374700.2	+	4	444	c.203A>G	c.(202-204)cAt>cGt	p.H68R		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	68	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTCTGAAGGCATCACCCAGCC	0.483																																					p.H68R		Atlas-SNP	.											.	AOX1	152	.	0			c.A203G						.						116.0	98.0	105.0					2																	201462122		2203	4300	6503	SO:0001583	missense	316	exon4			GAAGGCATCACCC	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.203A>G	chr2.hg19:g.201462122A>G	ENSP00000363832:p.His68Arg	37.0	0.0		41.0	14.0	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	hg19	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417876	0.62622	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.55052	1.75;0.54	5.29	5.29	0.74685	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.67625	2.065	0.80722	D	1	B	0.33904	0.431	B	0.43225	0.412	T	0.65038	-0.6265	10	0.72032	D	0.01	-47.6721	15.0474	0.71838	1.0:0.0:0.0:0.0	.	68	Q06278	ADO_HUMAN	R	68;43	ENSP00000363832:H68R;ENSP00000392485:H43R	ENSP00000363832:H68R	H	+	2	0	AOX1	201170367	1.000000	0.71417	0.917000	0.36280	0.292000	0.27327	8.034000	0.88864	2.211000	0.71520	0.533000	0.62120	CAT	.	.		0.483	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
AOX1	316	hgsc.bcm.edu	37	2	201515713	201515713	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:201515713T>C	ENST00000374700.2	+	26	3105	c.2864T>C	c.(2863-2865)aTg>aCg	p.M955T	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	955					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATCATAAACATGTACAAGGAA	0.433																																					p.M955T		Atlas-SNP	.											.	AOX1	152	.	0			c.T2864C						.						95.0	87.0	90.0					2																	201515713		2203	4300	6503	SO:0001583	missense	316	exon26			TAAACATGTACAA	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2864T>C	chr2.hg19:g.201515713T>C	ENSP00000363832:p.Met955Thr	113.0	0.0		131.0	35.0	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	hg19	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880323	0.72294	.	.	ENSG00000138356	ENST00000374700	T	0.38560	1.13	5.41	5.41	0.78517	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.130792	0.64402	D	0.000002	T	0.68403	0.2997	M	0.91663	3.23	0.80722	D	1	P	0.45957	0.869	P	0.57009	0.811	T	0.76225	-0.3037	10	0.87932	D	0	-51.9765	15.612	0.76733	0.0:0.0:0.0:1.0	.	955	Q06278	ADO_HUMAN	T	955	ENSP00000363832:M955T	ENSP00000363832:M955T	M	+	2	0	AOX1	201223958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.161000	0.77505	2.281000	0.76405	0.533000	0.62120	ATG	.	.		0.433	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
NBEAL1	65065	hgsc.bcm.edu	37	2	204066340	204066340	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr2:204066340A>G	ENST00000449802.1	+	49	7559	c.7226A>G	c.(7225-7227)gAt>gGt	p.D2409G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2409										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTATCACATGATGCAAAGTTG	0.393																																					p.D2409G		Atlas-SNP	.											.	NBEAL1	266	.	0			c.A7226G						.						155.0	135.0	141.0					2																	204066340		1876	4120	5996	SO:0001583	missense	65065	exon49			CACATGATGCAAA	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7226A>G	chr2.hg19:g.204066340A>G	ENSP00000399903:p.Asp2409Gly	173.0	0.0		213.0	56.0	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	hg19	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.729527	0.89390	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.38887	4.62;1.11	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67166	-0.5739	10	0.32370	T	0.25	.	15.9289	0.79644	1.0:0.0:0.0:0.0	.	2409;2398	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	G	2409;2340;424	ENSP00000399903:D2409G;ENSP00000388466:D424G	ENSP00000344985:D2340G	D	+	2	0	NBEAL1	203774585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.797000	0.91882	2.242000	0.73789	0.533000	0.62120	GAT	.	.		0.393	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
ANKRD28	23243	hgsc.bcm.edu	37	3	15736711	15736711	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:15736711T>C	ENST00000399451.2	-	16	1947	c.1580A>G	c.(1579-1581)gAa>gGa	p.E527G	MIR3134_ENST00000579433.1_RNA|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E560G|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	527						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TAGAGGAGTTTCACTTGCAAT	0.333																																					p.E527G		Atlas-SNP	.											.	ANKRD28	121	.	0			c.A1580G						.						63.0	58.0	60.0					3																	15736711		1836	4085	5921	SO:0001583	missense	23243	exon16			GGAGTTTCACTTG	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1580A>G	chr3.hg19:g.15736711T>C	ENSP00000382379:p.Glu527Gly	281.0	0.0		359.0	109.0	NM_015199	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	hg19	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141605	0.57044	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.65364	1.34;-0.15;1.34	6.07	6.07	0.98685	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.34521	1.04	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.12156	0.007;0.007;0.003	T	0.46871	-0.9160	10	0.38643	T	0.18	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	560;557;527	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	G	527;560;527	ENSP00000382379:E527G;ENSP00000373287:E560G;ENSP00000397341:E527G	ENSP00000373287:E560G	E	-	2	0	ANKRD28	15711715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	GAA	.	.		0.333	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
LRRC2	79442	hgsc.bcm.edu	37	3	46586621	46586621	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:46586621G>C	ENST00000395905.3	-	3	640	c.248C>G	c.(247-249)aCt>aGt	p.T83S	LRRC2_ENST00000496388.1_5'Flank|LRRC2_ENST00000296144.3_Missense_Mutation_p.T83S	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	83			T -> A (in dbSNP:rs17286758).							breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CCTTGTGAGAGTGTTCCTTTC	0.542																																					p.T83S		Atlas-SNP	.											.	LRRC2	37	.	0			c.C248G						.						238.0	214.0	222.0					3																	46586621		2203	4300	6503	SO:0001583	missense	79442	exon3			GTGAGAGTGTTCC	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.248C>G	chr3.hg19:g.46586621G>C	ENSP00000379241:p.Thr83Ser	82.0	0.0		130.0	50.0	NM_024512	B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	hg19	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	G	0.433	-0.902292	0.02453	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.15952	2.38;2.38	5.23	3.18	0.36537	.	1.238380	0.05597	N	0.575640	T	0.07234	0.0183	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29058	-1.0024	10	0.06236	T	0.91	.	8.5735	0.33583	0.2209:0.0:0.7791:0.0	.	83	Q9BYS8	LRRC2_HUMAN	S	83	ENSP00000379241:T83S;ENSP00000296144:T83S	ENSP00000296144:T83S	T	-	2	0	LRRC2	46561625	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	2.186000	0.42593	0.540000	0.28808	-0.145000	0.13849	ACT	.	.		0.542	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2		
ARL6IP5	10550	hgsc.bcm.edu	37	3	69134210	69134210	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:69134210T>A	ENST00000273258.3	+	1	116	c.12T>A	c.(10-12)aaT>aaA	p.N4K	ARL6IP5_ENST00000478935.1_Missense_Mutation_p.N4K	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	4					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		TGGACGTTAATATCGCCCCAC	0.592																																					p.N4K		Atlas-SNP	.											.	ARL6IP5	19	.	0			c.T12A						.						53.0	59.0	57.0					3																	69134210		2203	4300	6503	SO:0001583	missense	10550	exon1			CGTTAATATCGCC	AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"""PRA1 domain family 3"""	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.12T>A	chr3.hg19:g.69134210T>A	ENSP00000273258:p.Asn4Lys	68.0	0.0		66.0	25.0	NM_006407	B2R6V5|Q53ES3|Q5KU08	Missense_Mutation	SNP	ENST00000273258.3	hg19	CCDS2912.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581596	0.46006	.	.	ENSG00000144746	ENST00000273258;ENST00000412089;ENST00000478935	T;T	0.39997	1.05;1.05	5.69	-6.35	0.01975	.	0.822034	0.11613	N	0.546584	T	0.15912	0.0383	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.10450	0.005	T	0.11275	-1.0594	10	0.44086	T	0.13	-0.5963	3.6533	0.08212	0.2171:0.406:0.2639:0.1131	.	4	O75915	PRAF3_HUMAN	K	4	ENSP00000273258:N4K;ENSP00000420138:N4K	ENSP00000273258:N4K	N	+	3	2	ARL6IP5	69216900	0.110000	0.22057	0.000000	0.03702	0.545000	0.35147	-0.114000	0.10757	-0.947000	0.03673	-0.297000	0.09499	AAT	.	.		0.592	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352132.1	NM_006407	
CHMP2B	25978	hgsc.bcm.edu	37	3	87276703	87276703	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:87276703G>T	ENST00000263780.4	+	1	269	c.31G>T	c.(31-33)Gat>Tat	p.D11Y	CHMP2B_ENST00000494980.1_Missense_Mutation_p.D11Y|MIR4795_ENST00000584182.1_RNA|CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_5'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	11					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GAAAACCGTGGATGGTGAGTT	0.652																																					p.D11Y		Atlas-SNP	.											.	CHMP2B	28	.	0			c.G31T						.						62.0	73.0	69.0					3																	87276703		2203	4300	6503	SO:0001583	missense	25978	exon1			ACCGTGGATGGTG	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.31G>T	chr3.hg19:g.87276703G>T	ENSP00000263780:p.Asp11Tyr	153.0	0.0		123.0	49.0	NM_014043	B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	hg19	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076568	0.55753	.	.	ENSG00000083937	ENST00000263780;ENST00000494980	D;D	0.89050	-2.42;-2.46	4.2	4.2	0.49525	.	0.097447	0.64402	D	0.000002	D	0.87529	0.6200	M	0.65498	2.005	0.58432	D	0.999999	B	0.22480	0.07	B	0.26614	0.071	D	0.86740	0.1954	10	0.87932	D	0	-40.5373	12.2244	0.54451	0.0:0.0:1.0:0.0	.	11	Q9UQN3	CHM2B_HUMAN	Y	11	ENSP00000263780:D11Y;ENSP00000418920:D11Y	ENSP00000263780:D11Y	D	+	1	0	CHMP2B	87359393	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.140000	0.58031	2.330000	0.79161	0.455000	0.32223	GAT	.	.		0.652	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043	
POGLUT1	56983	hgsc.bcm.edu	37	3	119209506	119209506	+	Silent	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:119209506T>C	ENST00000295588.4	+	9	990	c.906T>C	c.(904-906)taT>taC	p.Y302Y		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	302					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AATTCTTCTATCCACAGCTGA	0.443																																					p.Y302Y		Atlas-SNP	.											.	POGLUT1	32	.	0			c.T906C						.						142.0	131.0	135.0					3																	119209506		2203	4300	6503	SO:0001819	synonymous_variant	56983	exon9			CTTCTATCCACAG	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.906T>C	chr3.hg19:g.119209506T>C		97.0	0.0		88.0	26.0	NM_152305	B2RD13|Q53GJ4|Q8N2T1	Silent	SNP	ENST00000295588.4	hg19	CCDS2988.1																																																																																			.	.		0.443	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305	
MBNL1	4154	hgsc.bcm.edu	37	3	152174105	152174105	+	Silent	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:152174105A>G	ENST00000463374.1	+	7	1576	c.1065A>G	c.(1063-1065)acA>acG	p.T355T	MBNL1_ENST00000355460.2_Silent_p.T337T|MBNL1_ENST00000485910.1_Silent_p.T269T|MBNL1_ENST00000282488.7_Silent_p.T269T|MBNL1_ENST00000545754.1_Silent_p.T281T|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324210.5_Silent_p.T349T|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000282486.6_Silent_p.T355T|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.H286R|MBNL1_ENST00000493459.1_Silent_p.T310T|MBNL1_ENST00000485509.1_Missense_Mutation_p.H286R|RP11-362A9.3_ENST00000463255.1_RNA	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	355					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAGCAACAACATCTGCCACAA	0.463																																					p.H286R		Atlas-SNP	.											.	MBNL1	100	.	0			c.A857G						.						212.0	219.0	217.0					3																	152174105		2203	4300	6503	SO:0001819	synonymous_variant	4154	exon5			AACAACATCTGCC	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.1065A>G	chr3.hg19:g.152174105A>G		232.0	0.0		295.0	98.0	NM_207296	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	hg19	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.243492	0.22796	.	.	ENSG00000152601	ENST00000324196;ENST00000485509	T;T	0.42513	0.97;0.97	5.51	4.33	0.51752	.	.	.	.	.	T	0.57154	0.2034	.	.	.	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	T	0.56329	-0.7997	8	0.44086	T	0.13	.	11.7765	0.51989	0.8682:0.0:0.0:0.1318	.	286	E9PBW7	.	R	286	ENSP00000319374:H286R;ENSP00000418876:H286R	ENSP00000319374:H286R	H	+	2	0	MBNL1	153656795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.834000	0.62774	0.881000	0.35993	0.460000	0.39030	CAT	.	.		0.463	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
ARHGEF26	26084	hgsc.bcm.edu	37	3	153909105	153909105	+	Silent	SNP	A	A	G	rs370646022		TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:153909105A>G	ENST00000356448.4	+	8	1952	c.1668A>G	c.(1666-1668)gtA>gtG	p.V556V	ARHGEF26_ENST00000465093.1_Silent_p.V556V|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	556	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V556V(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTAAGGAAGTATTGTCAAGGA	0.418																																					p.V556V	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	Atlas-SNP	.											SGEF,NS,carcinoma,0,2	ARHGEF26	158	.	3	Substitution - coding silent(3)	lung(3)	c.A1668G						.	A		0,3752		0,0,1876	106.0	96.0	99.0		1668	-7.2	0.3	3		99	1,8223		0,1,4111	no	coding-synonymous	ARHGEF26	NM_015595.3		0,1,5987	GG,GA,AA		0.0122,0.0,0.0084		556/872	153909105	1,11975	1876	4112	5988	SO:0001819	synonymous_variant	26084	exon8			GGAAGTATTGTCA	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1668A>G	chr3.hg19:g.153909105A>G		52.0	0.0		48.0	14.0	NM_001251962	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	ENST00000356448.4	hg19	CCDS46938.1																																																																																			.	.		0.418	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
RARRES1	5918	hgsc.bcm.edu	37	3	158415600	158415600	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:158415600C>T	ENST00000237696.5	-	6	1032	c.752G>A	c.(751-753)cGc>cAc	p.R251H	RP11-379F4.6_ENST00000606185.1_lincRNA	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	251					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R251H(1)		NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	CAAGTGAATGCGACAGGGAAT	0.373																																					p.R251H		Atlas-SNP	.											RARRES1,colon,carcinoma,0,1	RARRES1	22	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752A						.						87.0	88.0	88.0					3																	158415600		2203	4300	6503	SO:0001583	missense	5918	exon6			TGAATGCGACAGG	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"""latexin-like"""	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.752G>A	chr3.hg19:g.158415600C>T	ENSP00000237696:p.Arg251His	244.0	0.0		252.0	63.0	NM_206963	Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	hg19	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	C	6.639	0.486441	0.12641	.	.	ENSG00000118849	ENST00000237696	T	0.24723	1.84	5.73	-2.85	0.05734	.	0.653776	0.17141	N	0.185445	T	0.17577	0.0422	L	0.50333	1.59	0.09310	N	0.999999	B	0.20550	0.046	B	0.17979	0.02	T	0.27502	-1.0072	10	0.20519	T	0.43	-31.8035	7.8898	0.29672	0.1033:0.405:0.0:0.4917	.	251	P49788	TIG1_HUMAN	H	251	ENSP00000237696:R251H	ENSP00000237696:R251H	R	-	2	0	RARRES1	159898294	0.000000	0.05858	0.000000	0.03702	0.718000	0.41266	-1.052000	0.03503	-0.709000	0.05008	-0.813000	0.03139	CGC	.	.		0.373	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1		
PROM1	8842	hgsc.bcm.edu	37	4	16077376	16077376	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr4:16077376T>C	ENST00000510224.1	-	2	402	c.154A>G	c.(154-156)Att>Gtt	p.I52V	PROM1_ENST00000505450.1_Missense_Mutation_p.I52V|PROM1_ENST00000543373.1_Missense_Mutation_p.I52V|PROM1_ENST00000540805.1_Missense_Mutation_p.I52V|PROM1_ENST00000508167.1_Missense_Mutation_p.I52V|PROM1_ENST00000447510.2_Missense_Mutation_p.I52V|PROM1_ENST00000539194.1_Missense_Mutation_p.I52V			O43490	PROM1_HUMAN	prominin 1	52					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGAATGCCAATGGGTCCAGCT	0.453																																					p.I52V		Atlas-SNP	.											.	PROM1	91	.	0			c.A154G						.						76.0	75.0	75.0					4																	16077376		1918	4141	6059	SO:0001583	missense	8842	exon2			TGCCAATGGGTCC	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.154A>G	chr4.hg19:g.16077376T>C	ENSP00000426809:p.Ile52Val	117.0	0.0		151.0	57.0	NM_001145847	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	hg19	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406307	0.25378	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373;ENST00000508322	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.1	5.62	0.401	0.16338	.	0.363933	0.26571	N	0.023621	T	0.30885	0.0779	L	0.45051	1.395	0.09310	N	1	B;B;B;B;B;P	0.35107	0.429;0.429;0.429;0.429;0.319;0.484	B;B;B;B;B;B	0.38225	0.175;0.175;0.175;0.175;0.069;0.268	T	0.24083	-1.0170	10	0.15952	T	0.53	-6.5814	8.4625	0.32936	0.0:0.3014:0.0:0.6986	.	52;52;52;52;52;52	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	V	52	ENSP00000415481:I52V;ENSP00000438045:I52V;ENSP00000443620:I52V;ENSP00000426090:I52V;ENSP00000427346:I52V;ENSP00000426809:I52V;ENSP00000445526:I52V;ENSP00000425927:I52V	ENSP00000415481:I52V	I	-	1	0	PROM1	15686474	0.210000	0.23517	0.000000	0.03702	0.376000	0.30014	0.672000	0.25187	-0.125000	0.11703	0.528000	0.53228	ATT	.	.		0.453	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
PRDM5	11107	hgsc.bcm.edu	37	4	121720828	121720828	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr4:121720828T>A	ENST00000264808.3	-	9	1258	c.1018A>T	c.(1018-1020)Atc>Ttc	p.I340F	PRDM5_ENST00000428209.2_Missense_Mutation_p.I309F|PRDM5_ENST00000515109.1_Missense_Mutation_p.I309F	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	340					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGTGGGTGATCATATGACGT	0.274																																					p.I340F		Atlas-SNP	.											.	PRDM5	76	.	0			c.A1018T						.						61.0	62.0	62.0					4																	121720828		2201	4297	6498	SO:0001583	missense	11107	exon9			GGGTGATCATATG	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1018A>T	chr4.hg19:g.121720828T>A	ENSP00000264808:p.Ile340Phe	252.0	0.0		162.0	79.0	NM_018699	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	hg19	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161376	0.78226	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.18502	2.21;2.21;2.21	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	N	0.11927	0.2	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.83275	0.996;0.885;0.996	T	0.20207	-1.0282	10	0.72032	D	0.01	-20.759	16.3948	0.83586	0.0:0.0:0.0:1.0	.	309;309;340	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	F	340;309;309	ENSP00000264808:I340F;ENSP00000422309:I309F;ENSP00000404832:I309F	ENSP00000264808:I340F	I	-	1	0	PRDM5	121940278	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.793000	0.85851	2.326000	0.78906	0.533000	0.62120	ATC	.	.		0.274	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2		
TMEM184C	55751	hgsc.bcm.edu	37	4	148555393	148555393	+	Silent	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr4:148555393A>G	ENST00000296582.3	+	10	1699	c.1125A>G	c.(1123-1125)ttA>ttG	p.L375L	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	375						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						ATACAAGTTTATTATCATCAT	0.413																																					p.L375L		Atlas-SNP	.											.	TMEM184C	25	.	0			c.A1125G						.						84.0	76.0	79.0					4																	148555393		2203	4300	6503	SO:0001819	synonymous_variant	55751	exon10			AAGTTTATTATCA	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1125A>G	chr4.hg19:g.148555393A>G		121.0	0.0		199.0	67.0	NM_018241	D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	ENST00000296582.3	hg19	CCDS3770.1																																																																																			.	.		0.413	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241	
DCHS2	54798	hgsc.bcm.edu	37	4	155155901	155155901	+	Silent	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr4:155155901C>A	ENST00000357232.4	-	25	8537	c.8538G>T	c.(8536-8538)ctG>ctT	p.L2846L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2846					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCACCTGCCCCAGGTTTACTG	0.502																																					p.L2846L		Atlas-SNP	.											.	DCHS2	594	.	0			c.G8538T						.						118.0	119.0	119.0					4																	155155901		2203	4300	6503	SO:0001819	synonymous_variant	54798	exon25			CTGCCCCAGGTTT	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8538G>T	chr4.hg19:g.155155901C>A		104.0	0.0		114.0	25.0	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	hg19	CCDS3785.1																																																																																			.	.		0.502	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
TLR3	7098	hgsc.bcm.edu	37	4	187004611	187004611	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr4:187004611A>G	ENST00000296795.3	+	4	1875	c.1771A>G	c.(1771-1773)Atc>Gtc	p.I591V	TLR3_ENST00000504367.1_Missense_Mutation_p.I314V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	591					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ACTAAAGATCATCGATTTAGG	0.388																																					p.I591V		Atlas-SNP	.											.	TLR3	83	.	0			c.A1771G						.						76.0	77.0	77.0					4																	187004611		2203	4300	6503	SO:0001583	missense	7098	exon4			AAGATCATCGATT	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1771A>G	chr4.hg19:g.187004611A>G	ENSP00000296795:p.Ile591Val	147.0	0.0		190.0	54.0	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	hg19	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	A	4.851	0.158145	0.09236	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.59906	0.23;0.23	5.88	1.79	0.24919	.	0.259965	0.39544	N	0.001326	T	0.41627	0.1167	N	0.10707	0.03	0.09310	N	0.999994	B	0.30482	0.281	B	0.43783	0.431	T	0.39396	-0.9616	10	0.51188	T	0.08	.	6.1583	0.20350	0.3947:0.3435:0.0:0.2617	.	591	O15455	TLR3_HUMAN	V	591;591;314	ENSP00000296795:I591V;ENSP00000423684:I314V	ENSP00000296795:I591V	I	+	1	0	TLR3	187241605	0.058000	0.20735	0.210000	0.23637	0.023000	0.10783	0.577000	0.23758	0.450000	0.26774	0.455000	0.32223	ATC	.	.		0.388	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
TTC33	23548	hgsc.bcm.edu	37	5	40716422	40716422	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:40716422T>A	ENST00000337702.4	-	5	766	c.614A>T	c.(613-615)gAc>gTc	p.D205V	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	205										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						ACTTTCAAAGTCATAGTCTGG	0.413																																					p.D205V		Atlas-SNP	.											.	TTC33	29	.	0			c.A614T						.						120.0	107.0	112.0					5																	40716422		2203	4300	6503	SO:0001583	missense	23548	exon5			TCAAAGTCATAGT	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.614A>T	chr5.hg19:g.40716422T>A	ENSP00000338533:p.Asp205Val	85.0	0.0		153.0	25.0	NM_012382	B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	hg19	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131045	0.77549	.	.	ENSG00000113638	ENST00000337702	T	0.46451	0.87	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64067	-0.6494	10	0.54805	T	0.06	-24.377	15.4334	0.75121	0.0:0.0:0.0:1.0	.	205	Q6PID6	TTC33_HUMAN	V	205	ENSP00000338533:D205V	ENSP00000338533:D205V	D	-	2	0	TTC33	40752179	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.470000	0.73558	2.051000	0.60960	0.528000	0.53228	GAC	.	.		0.413	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382	
MROH2B	133558	hgsc.bcm.edu	37	5	41018447	41018447	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:41018447A>G	ENST00000399564.4	-	27	3209	c.2759T>C	c.(2758-2760)aTt>aCt	p.I920T	MROH2B_ENST00000506092.2_Missense_Mutation_p.I475T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	920																	ACTTACCTCAATATCATTTGT	0.423																																					p.I920T		Atlas-SNP	.											.	.	.	.	0			c.T2759C						.						92.0	84.0	86.0					5																	41018447		1874	4106	5980	SO:0001583	missense	133558	exon27			ACCTCAATATCAT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2759T>C	chr5.hg19:g.41018447A>G	ENSP00000382476:p.Ile920Thr	37.0	0.0		96.0	15.0	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	hg19	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.389784	0.25118	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07021	3.23;3.23	5.64	-1.21	0.09524	Armadillo-type fold (1);	1.142800	0.06568	N	0.747965	T	0.05777	0.0151	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.45498	-0.9257	10	0.19590	T	0.45	.	5.1104	0.14806	0.5992:0.0:0.2726:0.1282	.	920	Q7Z745	HTRB2_HUMAN	T	475;625;920	ENSP00000441504:I475T;ENSP00000382476:I920T	ENSP00000296803:I625T	I	-	2	0	HEATR7B2	41054204	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.186000	0.16978	-0.045000	0.13468	-0.274000	0.10170	ATT	.	.		0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
PPWD1	23398	hgsc.bcm.edu	37	5	64868010	64868010	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:64868010C>G	ENST00000261308.5	+	5	938	c.866C>G	c.(865-867)tCa>tGa	p.S289*	PPWD1_ENST00000535264.1_Nonsense_Mutation_p.S259*|PPWD1_ENST00000538977.1_Nonsense_Mutation_p.S133*	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	289					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GTATGTTTTTCACCAGATGGG	0.333																																					p.S289X		Atlas-SNP	.											.	PPWD1	47	.	0			c.C866G						.						61.0	67.0	65.0					5																	64868010		2203	4299	6502	SO:0001587	stop_gained	23398	exon5			GTTTTTCACCAGA	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.866C>G	chr5.hg19:g.64868010C>G	ENSP00000261308:p.Ser289*	108.0	0.0		160.0	14.0	NM_015342	B4DWR9|Q15002|Q7KZ89	Nonsense_Mutation	SNP	ENST00000261308.5	hg19	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453113	0.84209	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5825	0.95473	0.0:1.0:0.0:0.0	.	.	.	.	X	289;259;133;208	.	ENSP00000261308:S289X	S	+	2	0	PPWD1	64903766	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.669000	0.83911	2.630000	0.89119	0.561000	0.74099	TCA	.	.		0.333	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342	
ZFYVE16	9765	hgsc.bcm.edu	37	5	79747408	79747408	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:79747408G>T	ENST00000338008.5	+	10	3667	c.3487G>T	c.(3487-3489)Gat>Tat	p.D1163Y	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D1163Y|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D1163Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1163					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAGAAACTTGATGATCTCTC	0.368																																					p.D1163Y	Melanoma(150;1452 1854 16018 17851 37292)	Atlas-SNP	.											.	ZFYVE16	100	.	0			c.G3487T						.						119.0	120.0	119.0					5																	79747408		2203	4300	6503	SO:0001583	missense	9765	exon11			AAACTTGATGATC	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3487G>T	chr5.hg19:g.79747408G>T	ENSP00000337159:p.Asp1163Tyr	109.0	0.0		150.0	32.0	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	hg19	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692785	0.68271	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.41758	0.99;0.99;0.99	5.7	5.7	0.88788	.	0.000000	0.56097	D	0.000023	T	0.58192	0.2105	L	0.54323	1.7	0.38527	D	0.948876	D	0.89917	1.0	D	0.77004	0.989	T	0.62760	-0.6786	10	0.87932	D	0	-23.7142	12.0057	0.53257	0.0801:0.0:0.9199:0.0	.	1163	Q7Z3T8	ZFY16_HUMAN	Y	1163	ENSP00000337159:D1163Y;ENSP00000423663:D1163Y;ENSP00000426848:D1163Y	ENSP00000337159:D1163Y	D	+	1	0	ZFYVE16	79783164	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.837000	0.55820	2.684000	0.91462	0.650000	0.86243	GAT	.	.		0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
ANKRD34B	340120	hgsc.bcm.edu	37	5	79854721	79854721	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:79854721G>A	ENST00000338682.3	-	5	1790	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	373						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGAGAGCTGGGAATCAGAGCT	0.448																																					p.S373F		Atlas-SNP	.											.	ANKRD34B	61	.	0			c.C1118T						.						51.0	56.0	54.0					5																	79854721		2200	4299	6499	SO:0001583	missense	340120	exon5			AGCTGGGAATCAG		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1118C>T	chr5.hg19:g.79854721G>A	ENSP00000339802:p.Ser373Phe	35.0	0.0		73.0	23.0	NM_001004441	B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	hg19	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837810	0.71373	.	.	ENSG00000189127	ENST00000338682	T	0.19669	2.13	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.46541	0.1398	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03750	-1.1007	10	0.25106	T	0.35	-15.6207	19.4575	0.94900	0.0:0.0:1.0:0.0	.	373	A5PLL1	AN34B_HUMAN	F	373	ENSP00000339802:S373F	ENSP00000339802:S373F	S	-	2	0	ANKRD34B	79890477	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.754000	0.98908	2.941000	0.99782	0.655000	0.94253	TCC	.	.		0.448	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441	
CHD1	1105	hgsc.bcm.edu	37	5	98234033	98234033	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:98234033T>G	ENST00000284049.3	-	9	1441	c.1292A>C	c.(1291-1293)aAa>aCa	p.K431T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	431	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTGAAACTTTTTGGAAATGAG	0.383																																					p.K431T		Atlas-SNP	.											.	CHD1	137	.	0			c.A1292C						.						84.0	86.0	86.0					5																	98234033		2203	4300	6503	SO:0001583	missense	1105	exon9			AACTTTTTGGAAA	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1292A>C	chr5.hg19:g.98234033T>G	ENSP00000284049:p.Lys431Thr	75.0	0.0		98.0	24.0	NM_001270	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	hg19	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863992	0.71949	.	.	ENSG00000153922	ENST00000284049	T	0.74209	-0.82	5.61	5.61	0.85477	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.35646	U	0.003062	T	0.81226	0.4778	M	0.77820	2.39	0.58432	D	0.999998	P	0.34662	0.462	B	0.43916	0.436	T	0.82880	-0.0238	10	0.72032	D	0.01	.	15.7959	0.78409	0.0:0.0:0.0:1.0	.	431	O14646	CHD1_HUMAN	T	431	ENSP00000284049:K431T	ENSP00000284049:K431T	K	-	2	0	CHD1	98261933	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.171000	0.50824	2.136000	0.66102	0.482000	0.46254	AAA	.	.		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
SLCO4C1	353189	hgsc.bcm.edu	37	5	101627231	101627231	+	Silent	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:101627231G>T	ENST00000310954.6	-	2	721	c.435C>A	c.(433-435)ggC>ggA	p.G145G		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATGAAATCAGGCCAGTCAGGG	0.363																																					p.G145G		Atlas-SNP	.											.	SLCO4C1	113	.	0			c.C435A						.						64.0	62.0	63.0					5																	101627231		2203	4300	6503	SO:0001819	synonymous_variant	353189	exon2			AATCAGGCCAGTC	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.435C>A	chr5.hg19:g.101627231G>T		239.0	0.0		331.0	90.0	NM_180991		Silent	SNP	ENST00000310954.6	hg19	CCDS34205.1																																																																																			.	.		0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
SNX2	6643	hgsc.bcm.edu	37	5	122137803	122137803	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:122137803A>G	ENST00000379516.2	+	5	593	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.Y45C	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	162	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TATATGGCATATAGAGTAACA	0.318																																					p.Y162C		Atlas-SNP	.											.	SNX2	42	.	0			c.A485G						.						126.0	138.0	134.0					5																	122137803		2203	4300	6503	SO:0001583	missense	6643	exon5			TGGCATATAGAGT	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.485A>G	chr5.hg19:g.122137803A>G	ENSP00000368831:p.Tyr162Cys	167.0	0.0		222.0	56.0	NM_003100	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	hg19	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144254	0.77888	.	.	ENSG00000205302	ENST00000379516;ENST00000505934;ENST00000514949	T;T;T	0.66099	-0.19;-0.19;-0.19	5.51	5.51	0.81932	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.87834	0.6277	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92617	0.6104	10	0.87932	D	0	-17.1257	14.4899	0.67645	1.0:0.0:0.0:0.0	.	162	O60749	SNX2_HUMAN	C	162;161;45	ENSP00000368831:Y162C;ENSP00000422413:Y161C;ENSP00000421663:Y45C	ENSP00000368831:Y162C	Y	+	2	0	SNX2	122165702	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.895000	0.92512	2.230000	0.72887	0.528000	0.53228	TAT	.	.		0.318	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100	
FBN2	2201	hgsc.bcm.edu	37	5	127685084	127685084	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:127685084A>G	ENST00000508053.1	-	29	3918	c.2944T>C	c.(2944-2946)Tgc>Cgc	p.C982R	FBN2_ENST00000508989.1_Missense_Mutation_p.C949R|FBN2_ENST00000262464.4_Missense_Mutation_p.C982R			P35556	FBN2_HUMAN	fibrillin 2	982	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTTCAGGGCACTCGCAATGA	0.463																																					p.C982R		Atlas-SNP	.											.	FBN2	858	.	0			c.T2944C						.						118.0	97.0	104.0					5																	127685084		2203	4300	6503	SO:0001583	missense	2201	exon23			CAGGGCACTCGCA	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2944T>C	chr5.hg19:g.127685084A>G	ENSP00000424571:p.Cys982Arg	159.0	0.0		188.0	32.0	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.116430	0.77323	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99445	-5.91;-5.91;-5.91	4.04	4.04	0.47022	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000005	D	0.99782	0.9909	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	D	0.96586	0.9434	10	0.87932	D	0	.	14.0381	0.64658	1.0:0.0:0.0:0.0	.	949;982	D6RJI3;P35556	.;FBN2_HUMAN	R	982;982;949	ENSP00000262464:C982R;ENSP00000424571:C982R;ENSP00000425596:C949R	ENSP00000262464:C982R	C	-	1	0	FBN2	127712983	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	9.013000	0.93629	2.070000	0.61991	0.533000	0.62120	TGC	.	.		0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
AFF4	27125	hgsc.bcm.edu	37	5	132219082	132219082	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:132219082T>C	ENST00000265343.5	-	20	3693	c.3314A>G	c.(3313-3315)tAt>tGt	p.Y1105C		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1105					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCGGTGGCATAGAGGAAGTT	0.473																																					p.Y1105C	Ovarian(126;889 1733 2942 10745 11605)	Atlas-SNP	.											.	AFF4	120	.	0			c.A3314G						.						129.0	121.0	124.0					5																	132219082		2203	4300	6503	SO:0001583	missense	27125	exon20			GTGGCATAGAGGA	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.3314A>G	chr5.hg19:g.132219082T>C	ENSP00000265343:p.Tyr1105Cys	92.0	0.0		131.0	26.0	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	hg19	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.317210	0.60524	.	.	ENSG00000072364	ENST00000265343	T	0.64438	-0.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76971	-0.2761	10	0.41790	T	0.15	-11.458	16.4075	0.83691	0.0:0.0:0.0:1.0	.	1105	Q9UHB7	AFF4_HUMAN	C	1105	ENSP00000265343:Y1105C	ENSP00000265343:Y1105C	Y	-	2	0	AFF4	132246981	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.143000	0.71756	2.275000	0.75901	0.528000	0.53228	TAT	.	.		0.473	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
PCDHGB3	56102	hgsc.bcm.edu	37	5	140784951	140784951	+	Intron	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:140784951C>A	ENST00000576222.1	+	1	2546				PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGTGAGTTCATTTTTTTTC	0.398																																					p.S811X		Atlas-SNP	.											.	PCDHGA9	110	.	0			c.C2432A						.						30.0	32.0	32.0					5																	140784951		2020	4194	6214	SO:0001627	intron_variant	56107	exon1			TGAGTTCATTTTT	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+32575C>A	chr5.hg19:g.140784951C>A		73.0	0.0		82.0	14.0	NM_032089	A7E229|Q9Y5C7	Nonsense_Mutation	SNP	ENST00000576222.1	hg19	CCDS58980.1																																																																																			.	.		0.398	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
SLU7	10569	hgsc.bcm.edu	37	5	159833579	159833579	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:159833579C>G	ENST00000297151.4	-	12	1570	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	395					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATAGTCTTCAGTCTGGGCT	0.448																																					p.E395Q		Atlas-SNP	.											.	SLU7	35	.	0			c.G1183C						.						126.0	111.0	116.0					5																	159833579		2203	4300	6503	SO:0001583	missense	10569	exon12			AGTCTTCAGTCTG	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1183G>C	chr5.hg19:g.159833579C>G	ENSP00000297151:p.Glu395Gln	92.0	0.0		102.0	31.0	NM_006425	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	hg19	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501439	0.96371	.	.	ENSG00000164609	ENST00000297151	T	0.52983	0.64	6.07	6.07	0.98685	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	T	0.76983	0.4064	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80030	-0.1553	10	0.87932	D	0	-18.8173	20.6593	0.99626	0.0:1.0:0.0:0.0	.	395	O95391	SLU7_HUMAN	Q	395	ENSP00000297151:E395Q	ENSP00000297151:E395Q	E	-	1	0	SLU7	159766157	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	7.328000	0.79160	2.885000	0.99019	0.655000	0.94253	GAA	.	.		0.448	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425	
GABRA6	2559	hgsc.bcm.edu	37	5	161116701	161116701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:161116701G>T	ENST00000274545.5	+	6	1022	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	GABRA6_ENST00000523217.1_Nonsense_Mutation_p.E187*|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	197					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTACTCAGTAGAAGTCCCAGA	0.333										TCGA Ovarian(5;0.080)																											p.E197X		Atlas-SNP	.											.	GABRA6	139	.	0			c.G589T						.						65.0	71.0	69.0					5																	161116701		2202	4300	6502	SO:0001587	stop_gained	2559	exon6			TCAGTAGAAGTCC		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.589G>T	chr5.hg19:g.161116701G>T	ENSP00000274545:p.Glu197*	231.0	0.0		271.0	36.0	NM_000811	A8K096|Q4VAV2	Nonsense_Mutation	SNP	ENST00000274545.5	hg19	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.557183|7.557183	0.98358|0.98358	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.097406|.	0.64402|.	D|.	0.000001|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.48119|.	T|.	0.1|.	.|.	19.1903|19.1903	0.93663|0.93663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	197;187;144;117|136	.|.	ENSP00000274545:E197X|.	E|X	+|+	1|3	0|2	GABRA6|GABRA6	161049279|161049279	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.988000|0.988000	0.76386|0.76386	9.671000|9.671000	0.98627|0.98627	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GAA|TAG	.	.		0.333	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
KCNMB1	3779	hgsc.bcm.edu	37	5	169805835	169805835	+	Missense_Mutation	SNP	C	C	A	rs200287944		TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:169805835C>A	ENST00000274629.4	-	4	891	c.449G>T	c.(448-450)cGc>cTc	p.R150L	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	150					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CCCGTAGAGGCGCTGGAATAG	0.607																																					p.P150L		Atlas-SNP	.											.	KCNMB1	38	.	0			c.C449T						.						86.0	84.0	85.0					5																	169805835		2203	4300	6503	SO:0001583	missense	3779	exon4			TAGAGGCGCTGGA	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.449G>T	chr5.hg19:g.169805835C>A	ENSP00000274629:p.Arg150Leu	103.0	0.0		126.0	36.0	NM_004137	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	hg19	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074008	0.55646	.	.	ENSG00000145936	ENST00000274629	T	0.15834	2.39	5.3	4.43	0.53597	.	0.310182	0.30177	N	0.010223	T	0.33469	0.0864	M	0.63843	1.955	0.52501	D	0.999951	D	0.89917	1.0	D	0.70935	0.971	T	0.01692	-1.1294	9	.	.	.	.	8.5798	0.33621	0.0:0.8236:0.0:0.1764	.	150	Q16558	KCMB1_HUMAN	L	150	ENSP00000274629:R150L	.	R	-	2	0	KCNMB1	169738413	0.996000	0.38824	0.998000	0.56505	0.328000	0.28507	1.749000	0.38319	2.457000	0.83068	0.585000	0.79938	CGC	.	C|1.000;T|0.000		0.607	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3		
HIST1H4H	8365	hgsc.bcm.edu	37	6	26285638	26285638	+	Silent	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:26285638G>A	ENST00000377727.1	-	1	99	c.90C>T	c.(88-90)atC>atT	p.I30I	HIST1H4H_ENST00000289352.1_Silent_p.I30I	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	30					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						CTGGCTTAGTGATGCCCTGGA	0.537										HNSCC(76;0.23)																											p.I30I		Atlas-SNP	.											.	HIST1H4H	16	.	0			c.C90T						.						116.0	109.0	112.0					6																	26285638		2203	4300	6503	SO:0001819	synonymous_variant	8365	exon1			CTTAGTGATGCCC	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"""Histones / Replication-dependent"""	4788	protein-coding gene	gene with protein product		602828	"""H4 histone family, member H"", ""histone 1, H4h"""	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.90C>T	chr6.hg19:g.26285638G>A		99.0	0.0		105.0	40.0	NM_003543	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377727.1	hg19	CCDS4604.1																																																																																			.	.		0.537	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543	
GSTA5	221357	hgsc.bcm.edu	37	6	52697726	52697726	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:52697726G>C	ENST00000370989.2	-	5	506	c.477C>G	c.(475-477)caC>caG	p.H159Q	GSTA5_ENST00000284562.2_Missense_Mutation_p.H159Q|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	159	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	GTTCCACCAGGTGAATGTCAG	0.502																																					p.H159Q		Atlas-SNP	.											.	GSTA5	42	.	0			c.C477G						.						147.0	130.0	136.0					6																	52697726		2203	4300	6503	SO:0001583	missense	221357	exon6			CACCAGGTGAATG	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.477C>G	chr6.hg19:g.52697726G>C	ENSP00000360028:p.His159Gln	87.0	0.0		89.0	28.0	NM_153699	Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	hg19	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	0.713	-0.786423	0.02907	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02067	4.47;4.47	2.66	-0.805	0.10879	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.652466	0.15473	N	0.260507	T	0.00328	0.0010	N	0.11313	0.125	0.26018	N	0.981903	B	0.11235	0.004	B	0.12837	0.008	T	0.39375	-0.9617	10	0.09338	T	0.73	.	3.021	0.06076	0.1231:0.4625:0.2705:0.1438	.	159	Q7RTV2	GSTA5_HUMAN	Q	159	ENSP00000360028:H159Q;ENSP00000284562:H159Q	ENSP00000284562:H159Q	H	-	3	2	GSTA5	52805685	0.010000	0.17322	0.983000	0.44433	0.509000	0.34042	-1.419000	0.02460	0.030000	0.15379	-0.840000	0.03056	CAC	.	.		0.502	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699	
AIM1	202	hgsc.bcm.edu	37	6	106968297	106968297	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:106968297A>G	ENST00000369066.3	+	2	2477	c.1990A>G	c.(1990-1992)Agg>Ggg	p.R664G		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTCCTCAAAGGCCAGATCA	0.488																																					p.R664G		Atlas-SNP	.											.	AIM1	161	.	0			c.A1990G						.						49.0	49.0	49.0					6																	106968297		2203	4300	6503	SO:0001583	missense	202	exon2			CCTCAAAGGCCAG	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1990A>G	chr6.hg19:g.106968297A>G	ENSP00000358062:p.Arg664Gly	132.0	0.0		194.0	51.0	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	hg19	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726188	0.30593	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72725	-0.68	6.17	0.986	0.19784	.	0.693359	0.13286	N	0.399408	T	0.34832	0.0911	L	0.40543	1.245	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	10	0.32370	T	0.25	.	5.6056	0.17377	0.6459:0.1352:0.2189:0.0	.	664	Q9Y4K1	AIM1_HUMAN	G	1072;664	ENSP00000358062:R664G	ENSP00000285105:R1072G	R	+	1	2	AIM1	107074990	0.002000	0.14202	0.000000	0.03702	0.020000	0.10135	1.214000	0.32419	0.155000	0.19261	0.533000	0.62120	AGG	.	.		0.488	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
AK9	221264	hgsc.bcm.edu	37	6	109935589	109935589	+	Splice_Site	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:109935589T>A	ENST00000424296.2	-	14	1570	c.1494A>T	c.(1492-1494)gaA>gaT	p.E498D	AK9_ENST00000341338.6_De_novo_Start_OutOfFrame|AK9_ENST00000368948.2_Splice_Site_p.E498D	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	498					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTTCTTTACCTTCTTCATCAA	0.318																																					p.E498D		Atlas-SNP	.											.	AKD1	223	.	0			c.A1494T						.						153.0	127.0	135.0					6																	109935589		692	1591	2283	SO:0001630	splice_region_variant	221264	exon14			TTTACCTTCTTCA	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1495+1A>T	chr6.hg19:g.109935589T>A		113.0	0.0		107.0	31.0	NM_001145128	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	hg19	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	T	2.497	-0.316091	0.05422	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	T;T	0.64438	-0.1;-0.09	3.24	-0.843	0.10744	.	1.071710	0.07370	N	0.885533	T	0.09379	0.0231	N	0.01576	-0.805	0.22127	N	0.99935	B	0.02656	0.0	B	0.01281	0.0	T	0.13737	-1.0498	9	.	.	.	3.3528	2.8848	0.05658	0.3661:0.0:0.3127:0.3212	.	498	Q5TCS8	AKD1_HUMAN	D	498	ENSP00000410186:E498D;ENSP00000357944:E498D	.	E	-	3	2	AKD1	110042282	0.032000	0.19561	0.001000	0.08648	0.115000	0.19883	-0.124000	0.10595	-0.139000	0.11414	-0.811000	0.03165	GAA	.	.		0.318	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	Missense_Mutation
ZUFSP	221302	hgsc.bcm.edu	37	6	116977888	116977888	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:116977888G>C	ENST00000368576.3	-	5	1163	c.920C>G	c.(919-921)tCa>tGa	p.S307*	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	307							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AAGAGCTAATGATTCCATCAT	0.338																																					p.S307X		Atlas-SNP	.											.	ZUFSP	46	.	0			c.C920G						.						111.0	102.0	105.0					6																	116977888		2203	4299	6502	SO:0001587	stop_gained	221302	exon5			GCTAATGATTCCA	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.920C>G	chr6.hg19:g.116977888G>C	ENSP00000357565:p.Ser307*	87.0	0.0		113.0	6.0	NM_145062	Q5TD92|Q6PJH7|Q96NV6	Nonsense_Mutation	SNP	ENST00000368576.3	hg19	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	38	6.929586	0.97944	.	.	ENSG00000153975	ENST00000368576	.	.	.	5.78	5.78	0.91487	.	0.120439	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.3699	16.4878	0.84189	0.0:0.1395:0.8605:0.0	.	.	.	.	X	307	.	ENSP00000357565:S307X	S	-	2	0	ZUFSP	117084581	1.000000	0.71417	0.963000	0.40424	0.890000	0.51754	5.656000	0.67988	2.726000	0.93360	0.561000	0.74099	TCA	.	.		0.338	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062	
SHPRH	257218	hgsc.bcm.edu	37	6	146264427	146264427	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:146264427T>C	ENST00000367505.2	-	9	2354	c.2090A>G	c.(2089-2091)aAg>aGg	p.K697R	SHPRH_ENST00000275233.7_Missense_Mutation_p.K697R|SHPRH_ENST00000367503.3_Missense_Mutation_p.K697R|SHPRH_ENST00000438092.2_Missense_Mutation_p.K697R			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	697					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGGCTTGATCTTCAGATTTTT	0.453																																					p.K697R		Atlas-SNP	.											.	SHPRH	169	.	0			c.A2090G						.						71.0	74.0	73.0					6																	146264427		1960	4157	6117	SO:0001583	missense	257218	exon9			TTGATCTTCAGAT	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2090A>G	chr6.hg19:g.146264427T>C	ENSP00000356475:p.Lys697Arg	120.0	0.0		150.0	51.0	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	hg19	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354220	0.61293	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.36	4.2	0.49525	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);DEAD-like helicase (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.134339	0.49916	D	0.000133	T	0.51736	0.1692	L	0.43152	1.355	0.35465	D	0.796818	B;D;D;D	0.62365	0.007;0.97;0.962;0.991	B;P;P;P	0.59424	0.007;0.725;0.604;0.857	T	0.53049	-0.8493	10	0.27785	T	0.31	-21.4122	8.7142	0.34401	0.0:0.1477:0.0:0.8523	.	586;697;697;586	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	R	697;697;697;697;586	ENSP00000356475:K697R;ENSP00000356473:K697R;ENSP00000412797:K697R;ENSP00000275233:K697R	ENSP00000275233:K697R	K	-	2	0	SHPRH	146306120	0.986000	0.35501	0.977000	0.42913	0.991000	0.79684	1.993000	0.40747	0.980000	0.38523	0.528000	0.53228	AAG	.	.		0.453	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
RAET1G	353091	hgsc.bcm.edu	37	6	150240446	150240446	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:150240446G>T	ENST00000367360.2	-	3	431	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.Q122K|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		ATCCTGGCCTGCAGGGTGAGG	0.517																																					p.Q122K		Atlas-SNP	.											.	RAET1G	31	.	0			c.C364A						.						122.0	117.0	119.0					6																	150240446		2203	4300	6503	SO:0001583	missense	353091	exon3			TGGCCTGCAGGGT	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.364C>A	chr6.hg19:g.150240446G>T	ENSP00000356329:p.Gln122Lys	61.0	0.0		90.0	39.0	NM_001001788		Missense_Mutation	SNP	ENST00000367360.2	hg19	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958374	0.34565	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.14640	2.49;2.49	2.67	-1.99	0.07457	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.18800	0.0451	M	0.79926	2.475	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.04178	-1.0971	9	0.87932	D	0	.	7.2321	0.26049	0.0:0.5323:0.2876:0.1801	.	122	Q6H3X3	RET1G_HUMAN	K	122	ENSP00000356329:Q122K;ENSP00000417503:Q122K	ENSP00000356329:Q122K	Q	-	1	0	RAET1G	150282139	0.195000	0.23338	0.001000	0.08648	0.001000	0.01503	0.720000	0.25896	-0.469000	0.06911	-0.458000	0.05436	CAG	.	.		0.517	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2		
WTAP	9589	hgsc.bcm.edu	37	6	160176075	160176075	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:160176075T>C	ENST00000358372.4	+	8	2380	c.623T>C	c.(622-624)aTc>aCc	p.I208T	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	208					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AATGACTTCATCATCCAGCTT	0.448																																					p.I208T		Atlas-SNP	.											.	WTAP	44	.	0			c.T623C						.						50.0	49.0	49.0					6																	160176075		2203	4300	6503	SO:0001583	missense	9589	exon8			ACTTCATCATCCA	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.623T>C	chr6.hg19:g.160176075T>C	ENSP00000351141:p.Ile208Thr	115.0	0.0		148.0	57.0	NM_001270531	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	hg19	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992383	0.74703	.	.	ENSG00000146457	ENST00000358372	T	0.46063	0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.85130	0.997;0.985	T	0.47209	-0.9135	10	0.46703	T	0.11	-3.2925	16.8222	0.85835	0.0:0.0:0.0:1.0	.	208;208	A8K489;Q15007	.;FL2D_HUMAN	T	208	ENSP00000351141:I208T	ENSP00000351141:I208T	I	+	2	0	WTAP	160096065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.018000	0.88722	2.371000	0.80710	0.533000	0.62120	ATC	.	.		0.448	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	
IGF2R	3482	hgsc.bcm.edu	37	6	160448307	160448307	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:160448307G>C	ENST00000356956.1	+	6	885	c.737G>C	c.(736-738)gGc>gCc	p.G246A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	246					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTGATGTTGGCCAGCCCCGG	0.592																																					p.G246A		Atlas-SNP	.											.	IGF2R	251	.	0			c.G737C						.						34.0	34.0	34.0					6																	160448307		2203	4300	6503	SO:0001583	missense	3482	exon6			ATGTTGGCCAGCC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.737G>C	chr6.hg19:g.160448307G>C	ENSP00000349437:p.Gly246Ala	274.0	0.0		252.0	91.0	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733813	0.69189	.	.	ENSG00000197081	ENST00000356956	T	0.74209	-0.82	5.22	5.22	0.72569	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	D	0.88749	0.6521	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90731	0.4642	10	0.66056	D	0.02	-10.141	19.1446	0.93459	0.0:0.0:1.0:0.0	.	246	P11717	MPRI_HUMAN	A	246	ENSP00000349437:G246A	ENSP00000349437:G246A	G	+	2	0	IGF2R	160368297	1.000000	0.71417	0.987000	0.45799	0.266000	0.26442	7.299000	0.78831	2.577000	0.86979	0.655000	0.94253	GGC	.	.		0.592	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
THBS2	7058	hgsc.bcm.edu	37	6	169632798	169632798	+	Silent	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:169632798G>A	ENST00000366787.3	-	13	2142	c.1893C>T	c.(1891-1893)ccC>ccT	p.P631P	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	631					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGACCCCGACGGGCTGGTTCC	0.607																																					p.P631P	Esophageal Squamous(91;219 1934 18562 44706)	Atlas-SNP	.											.	THBS2	230	.	0			c.C1893T						.						63.0	68.0	67.0					6																	169632798		2203	4299	6502	SO:0001819	synonymous_variant	7058	exon13			CCCGACGGGCTGG		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1893C>T	chr6.hg19:g.169632798G>A		106.0	0.0		92.0	35.0	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	hg19	CCDS34574.1																																																																																			.	.		0.607	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
SDK1	221935	hgsc.bcm.edu	37	7	4249794	4249794	+	Splice_Site	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr7:4249794G>C	ENST00000404826.2	+	38	5678	c.5539G>C	c.(5539-5541)Ggg>Cgg	p.G1847R	SDK1_ENST00000389531.3_Splice_Site_p.G1827R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1847	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTGTACAAGGTAAGACCCG	0.667																																					p.G1847R		Atlas-SNP	.											.	SDK1	361	.	0			c.G5539C						.						25.0	25.0	25.0					7																	4249794		2203	4300	6503	SO:0001630	splice_region_variant	221935	exon38			GTACAAGGTAAGA	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5539+1G>C	chr7.hg19:g.4249794G>C		24.0	0.0		32.0	9.0	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	hg19	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295840	0.40594	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.58652	0.32;0.32	4.98	4.98	0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.73583	0.3605	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.979;0.969;1.0	P;P;D	0.78314	0.74;0.77;0.991	T	0.69423	-0.5149	10	0.16420	T	0.52	.	18.2677	0.90057	0.0:0.0:1.0:0.0	.	1827;334;1847	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	R	1847;95;1827	ENSP00000385899:G1847R;ENSP00000374182:G1827R	ENSP00000374182:G1827R	G	+	1	0	SDK1	4216320	1.000000	0.71417	0.999000	0.59377	0.049000	0.14656	9.363000	0.97131	2.318000	0.78349	0.563000	0.77884	GGG	.	.		0.667	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	Missense_Mutation
SCIN	85477	hgsc.bcm.edu	37	7	12666228	12666228	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr7:12666228G>C	ENST00000297029.5	+	8	1102	c.1001G>C	c.(1000-1002)gGa>gCa	p.G334A	SCIN_ENST00000519209.1_Missense_Mutation_p.G87A|SCIN_ENST00000445618.2_Missense_Mutation_p.G87A|SCIN_ENST00000473722.1_3'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	334	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTTCCAGAAGGAGGTGAAACA	0.343																																					p.G334A		Atlas-SNP	.											.	SCIN	105	.	0			c.G1001C						.						30.0	26.0	27.0					7																	12666228		1683	3798	5481	SO:0001583	missense	85477	exon8			CAGAAGGAGGTGA	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1001G>C	chr7.hg19:g.12666228G>C	ENSP00000297029:p.Gly334Ala	88.0	0.0		120.0	25.0	NM_001112706	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	hg19	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183428	0.57800	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.63255	-0.03;-0.03;-0.03	5.94	5.94	0.96194	Gelsolin domain (1);	0.106853	0.64402	D	0.000006	T	0.79149	0.4397	H	0.96861	3.895	0.47905	D	0.999549	P	0.50443	0.935	P	0.47864	0.559	D	0.85644	0.1278	10	0.87932	D	0	-20.8521	13.5436	0.61690	0.0708:0.0:0.9292:0.0	.	334	Q9Y6U3	ADSV_HUMAN	A	334;87;87	ENSP00000297029:G334A;ENSP00000430997:G87A;ENSP00000390189:G87A	ENSP00000297029:G334A	G	+	2	0	SCIN	12632753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.007000	0.49536	2.816000	0.96949	0.563000	0.77884	GGA	.	.		0.343	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128	
TRA2A	29896	hgsc.bcm.edu	37	7	23545772	23545772	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr7:23545772T>C	ENST00000297071.4	-	6	971	c.755A>G	c.(754-756)tAt>tGt	p.Y252C	TRA2A_ENST00000392502.4_Missense_Mutation_p.Y151C|TRA2A_ENST00000538367.1_Missense_Mutation_p.Y151C|TRA2A_ENST00000474586.1_5'Flank	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	252	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCGGTAATCATAGTCTTCATA	0.418																																					p.Y252C	Pancreas(121;2137 2973 46590)	Atlas-SNP	.											.	TRA2A	29	.	0			c.A755G						.						109.0	114.0	112.0					7																	23545772		2203	4300	6503	SO:0001583	missense	29896	exon6			TAATCATAGTCTT	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.755A>G	chr7.hg19:g.23545772T>C	ENSP00000297071:p.Tyr252Cys	69.0	0.0		126.0	15.0	NM_013293	B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	hg19	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655917	0.47467	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.27256	1.68;1.85;1.82	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.54323	1.7	0.49130	D	0.999758	P	0.52463	0.953	P	0.47075	0.536	T	0.04481	-1.0948	10	0.41790	T	0.15	-9.1505	15.2005	0.73132	0.0:0.0:0.0:1.0	.	252	Q13595	TRA2A_HUMAN	C	252;151;151	ENSP00000297071:Y252C;ENSP00000376290:Y151C;ENSP00000441116:Y151C	ENSP00000297071:Y252C	Y	-	2	0	TRA2A	23512297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.503000	0.60407	2.060000	0.61445	0.529000	0.55759	TAT	.	.		0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293	
FZD9	8326	hgsc.bcm.edu	37	7	72848989	72848989	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr7:72848989G>A	ENST00000344575.3	+	1	881	c.652G>A	c.(652-654)Ggc>Agc	p.G218S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	218					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGCGGGCCCGGCGTCGAGGT	0.692																																					p.G218S	Pancreas(144;909 1878 36867 38226 39554)	Atlas-SNP	.											.	FZD9	51	.	0			c.G652A						.						28.0	31.0	30.0					7																	72848989		2201	4299	6500	SO:0001583	missense	8326	exon1			GGGCCCGGCGTCG	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.652G>A	chr7.hg19:g.72848989G>A	ENSP00000345785:p.Gly218Ser	26.0	0.0		32.0	10.0	NM_003508		Missense_Mutation	SNP	ENST00000344575.3	hg19	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479658	0.26511	.	.	ENSG00000188763	ENST00000344575	T	0.77098	-1.07	3.4	3.4	0.38934	.	0.066273	0.64402	U	0.000017	T	0.57286	0.2043	N	0.12746	0.255	0.43130	D	0.994862	B	0.24675	0.109	B	0.17098	0.017	T	0.54275	-0.8318	10	0.09084	T	0.74	.	14.2073	0.65741	0.0:0.0:1.0:0.0	.	218	O00144	FZD9_HUMAN	S	218	ENSP00000345785:G218S	ENSP00000345785:G218S	G	+	1	0	FZD9	72486925	1.000000	0.71417	0.953000	0.39169	0.820000	0.46376	7.935000	0.87658	1.633000	0.50488	0.196000	0.17591	GGC	.	.		0.692	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1		
CTTNBP2	83992	hgsc.bcm.edu	37	7	117424330	117424330	+	Silent	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr7:117424330A>G	ENST00000160373.3	-	5	2338	c.2247T>C	c.(2245-2247)taT>taC	p.Y749Y		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	749					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAGCAGCAGAATACAAGGCAG	0.403																																					p.Y749Y		Atlas-SNP	.											.	CTTNBP2	200	.	0			c.T2247C						.						131.0	136.0	134.0					7																	117424330		2203	4300	6503	SO:0001819	synonymous_variant	83992	exon5			AGCAGAATACAAG		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2247T>C	chr7.hg19:g.117424330A>G		123.0	0.0		212.0	50.0	NM_033427	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	hg19	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	9.048	0.991407	0.18966	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	T	0.71771	0.3379	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71130	-0.4682	4	.	.	.	-0.8195	15.8142	0.78586	1.0:0.0:0.0:0.0	.	.	.	.	L	237	.	.	F	-	1	0	CTTNBP2	117211566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.572000	0.74005	2.184000	0.69523	0.533000	0.62120	TTC	.	.		0.403	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
ATP6V0A4	50617	hgsc.bcm.edu	37	7	138400553	138400553	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr7:138400553G>T	ENST00000310018.2	-	20	2495	c.2213C>A	c.(2212-2214)aCa>aAa	p.T738K	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.T738K|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.T738K	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	738					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTAGGAGGCTGTGTTTGAAAT	0.542																																					p.T738K		Atlas-SNP	.											.	ATP6V0A4	93	.	0			c.C2213A						.						162.0	153.0	156.0					7																	138400553		2203	4300	6503	SO:0001583	missense	50617	exon19			GAGGCTGTGTTTG	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2213C>A	chr7.hg19:g.138400553G>T	ENSP00000308122:p.Thr738Lys	88.0	0.0		160.0	45.0	NM_130841	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	hg19	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120548	0.94385	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.88586	-2.4;-2.4;-2.4	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97994	1.0356	10	0.87932	D	0	-17.115	19.3838	0.94548	0.0:0.0:1.0:0.0	.	738	Q9HBG4	VPP4_HUMAN	K	738	ENSP00000308122:T738K;ENSP00000376774:T738K;ENSP00000253856:T738K	ENSP00000308122:T738K	T	-	2	0	ATP6V0A4	138051093	1.000000	0.71417	0.962000	0.40283	0.909000	0.53808	9.813000	0.99286	2.670000	0.90874	0.655000	0.94253	ACA	.	.		0.542	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
UBE3C	9690	hgsc.bcm.edu	37	7	157013403	157013403	+	Silent	SNP	A	A	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr7:157013403A>T	ENST00000348165.5	+	15	2295	c.1935A>T	c.(1933-1935)ccA>ccT	p.P645P		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	645					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCTATGTGCCAGCATCCAGAC	0.557																																					p.P645P		Atlas-SNP	.											.	UBE3C	124	.	0			c.A1935T						.						116.0	93.0	100.0					7																	157013403		2203	4300	6503	SO:0001819	synonymous_variant	9690	exon15			TGTGCCAGCATCC	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1935A>T	chr7.hg19:g.157013403A>T		50.0	0.0		90.0	19.0	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	hg19	CCDS34789.1																																																																																			.	.		0.557	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
KIF13B	23303	hgsc.bcm.edu	37	8	29035027	29035027	+	Silent	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr8:29035027T>C	ENST00000524189.1	-	9	827	c.789A>G	c.(787-789)acA>acG	p.T263T	KIF13B_ENST00000521515.1_Silent_p.T263T	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	263	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGCAGCGCCTGTCTTCGTTG	0.428											OREG0018684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T263T		Atlas-SNP	.											.	KIF13B	192	.	0			c.A789G						.						134.0	136.0	135.0					8																	29035027		1932	4155	6087	SO:0001819	synonymous_variant	23303	exon9			AGCGCCTGTCTTC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.789A>G	chr8.hg19:g.29035027T>C		60.0	0.0	806	74.0	30.0	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	hg19	CCDS55217.1																																																																																			.	.		0.428	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
POLB	5423	hgsc.bcm.edu	37	8	42218871	42218871	+	Silent	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr8:42218871A>G	ENST00000265421.4	+	10	779	c.609A>G	c.(607-609)gaA>gaG	p.E203E	POLB_ENST00000538005.1_Silent_p.E49E	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	203					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TCACTTCAGAATCAACCAAAC	0.403								DNA polymerases (catalytic subunits)																													p.E203E		Atlas-SNP	.											.	POLB	60	.	0			c.A609G						.						139.0	120.0	126.0					8																	42218871		2203	4300	6503	SO:0001819	synonymous_variant	5423	exon10			TTCAGAATCAACC		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.609A>G	chr8.hg19:g.42218871A>G		80.0	0.0		92.0	29.0	NM_002690	B2RC78|Q3KP48|Q6FI34	Silent	SNP	ENST00000265421.4	hg19	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.541|1.541	-0.541860|-0.541860	0.04053|0.04053	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290|ENST00000518579;ENST00000517393	.|.	.|.	.|.	5.58|5.58	-2.33|-2.33	0.06724|0.06724	.|.	.|.	.|.	.|.	.|.	T|T	0.65407|0.65407	0.2688|0.2688	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61836|0.61836	-0.6981|-0.6981	4|4	.|.	.|.	.|.	-7.2388|-7.2388	14.644|14.644	0.68745|0.68745	0.29:0.0:0.71:0.0|0.29:0.0:0.71:0.0	.|.	.|.	.|.	.|.	V|S	134|61;19	.|.	.|.	I|N	+|+	1|2	0|0	POLB|POLB	42338028|42338028	0.213000|0.213000	0.23551|0.23551	0.757000|0.757000	0.31301|0.31301	0.124000|0.124000	0.20399|0.20399	-0.388000|-0.388000	0.07352|0.07352	-0.867000|-0.867000	0.04063|0.04063	0.460000|0.460000	0.39030|0.39030	ATC|AAT	.	.		0.403	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690	
SLC10A5	347051	hgsc.bcm.edu	37	8	82606702	82606702	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr8:82606702G>C	ENST00000518568.1	-	1	1707	c.506C>G	c.(505-507)aCa>aGa	p.T169R		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	169						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CTTCCATACTGTTTGAAACAG	0.363																																					p.T169R		Atlas-SNP	.											.	SLC10A5	35	.	0			c.C506G						.						61.0	63.0	62.0					8																	82606702		2203	4300	6503	SO:0001583	missense	347051	exon1			CATACTGTTTGAA		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.506C>G	chr8.hg19:g.82606702G>C	ENSP00000428612:p.Thr169Arg	83.0	0.0		138.0	49.0	NM_001010893	B2RN26	Missense_Mutation	SNP	ENST00000518568.1	hg19	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854370	0.17106	.	.	ENSG00000253598	ENST00000518568	T	0.10960	2.82	5.98	0.541	0.17168	.	0.700302	0.12884	N	0.431205	T	0.04679	0.0127	N	0.11154	0.105	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.45614	-0.9249	10	0.17832	T	0.49	-0.9866	5.6459	0.17588	0.3109:0.2475:0.4416:0.0	.	169	Q5PT55	NTCP5_HUMAN	R	169	ENSP00000428612:T169R	ENSP00000428612:T169R	T	-	2	0	SLC10A5	82769257	0.000000	0.05858	0.008000	0.14137	0.985000	0.73830	0.066000	0.14489	0.138000	0.18790	0.563000	0.77884	ACA	.	.		0.363	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493	
SAMD12	401474	hgsc.bcm.edu	37	8	119391939	119391939	+	Splice_Site	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr8:119391939C>T	ENST00000314727.4	-	4	459	c.323G>A	c.(322-324)gGg>gAg	p.G108E	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Splice_Site_p.G108E|SAMD12_ENST00000527515.1_5'Flank	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	108	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CAGGGCTCGCCCTGCAGGGTT	0.473																																					p.G108E		Atlas-SNP	.											.	SAMD12	24	.	0			c.G323A						.						71.0	68.0	69.0					8																	119391939		2203	4300	6503	SO:0001630	splice_region_variant	401474	exon4			GCTCGCCCTGCAG	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.323-1G>A	chr8.hg19:g.119391939C>T		60.0	0.0		94.0	31.0	NM_207506	Q0P502	Missense_Mutation	SNP	ENST00000314727.4	hg19	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.267520|5.267520	0.95399|0.95399	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000526765	D;D;D;D|D	0.85629|0.85556	-2.01;-2.01;-2.01;-2.01|-2.0	6.17|6.17	6.17|6.17	0.99709|0.99709	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.94571|0.94571	0.8251|0.8251	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.992|.	D|D	0.94416|0.94416	0.7636|0.7636	9|7	.|.	.|.	.|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108;108|.	B8ZZB7;Q8N8I0|.	.;SAM12_HUMAN|.	E|S	108;100;108;108|123	ENSP00000387133:G108E;ENSP00000435927:G100E;ENSP00000314173:G108E;ENSP00000431360:G108E|ENSP00000434079:G123S	.|.	G|G	-|-	2|1	0|0	SAMD12|SAMD12	119461120|119461120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|GGC	.	.		0.473	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506	Missense_Mutation
SMARCA2	6595	hgsc.bcm.edu	37	9	2182157	2182157	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr9:2182157A>G	ENST00000382203.1	+	31	4585	c.4376A>G	c.(4375-4377)cAt>cGt	p.H1459R	SMARCA2_ENST00000324954.5_Missense_Mutation_p.H105R|SMARCA2_ENST00000382186.1_Missense_Mutation_p.H123R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.H1441R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.H1441R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.H1459R|SMARCA2_ENST00000302401.3_Missense_Mutation_p.H147R|SMARCA2_ENST00000382185.1_Missense_Mutation_p.H105R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1459	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATTCGTAATCATAAGTACCGG	0.438																																					p.H1459R		Atlas-SNP	.											.	SMARCA2	313	.	0			c.A4376G						.						139.0	137.0	138.0					9																	2182157		2203	4300	6503	SO:0001583	missense	6595	exon31			GTAATCATAAGTA	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4376A>G	chr9.hg19:g.2182157A>G	ENSP00000371638:p.His1459Arg	65.0	0.0		71.0	25.0	NM_003070	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	hg19	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848563	0.32699	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000452193;ENST00000302401;ENST00000324954;ENST00000423555;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751	T;T;T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.84	5.84	0.93424	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	L	0.33293	1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.959;0.967	D;D;D;D	0.77557	0.99;0.99;0.972;0.983	T	0.17653	-1.0362	10	0.25751	T	0.34	-30.5819	16.2322	0.82352	1.0:0.0:0.0:0.0	.	145;147;1441;1459	B4DNT1;B1ALF6;P51531-2;P51531	.;.;.;SMCA2_HUMAN	R	1459;1441;1459;1441;123;147;105;145;123;145;105;105;105	ENSP00000265773:H1459R;ENSP00000349788:H1441R;ENSP00000371638:H1459R;ENSP00000371629:H1441R;ENSP00000401096:H123R;ENSP00000305411:H147R;ENSP00000324770:H105R;ENSP00000413057:H145R;ENSP00000371621:H123R;ENSP00000387486:H145R;ENSP00000371620:H105R;ENSP00000371618:H105R;ENSP00000412242:H105R	ENSP00000305411:H147R	H	+	2	0	SMARCA2	2172157	1.000000	0.71417	0.992000	0.48379	0.239000	0.25481	9.317000	0.96327	2.233000	0.73108	0.454000	0.30748	CAT	.	.		0.438	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
SNAPC3	6619	hgsc.bcm.edu	37	9	15423939	15423939	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr9:15423939A>T	ENST00000380821.3	+	2	523	c.347A>T	c.(346-348)gAg>gTg	p.E116V	SNAPC3_ENST00000461041.1_3'UTR	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	116					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GAGGACGGTGAGGATCCAGAA	0.398																																					p.E116V		Atlas-SNP	.											.	SNAPC3	28	.	0			c.A347T						.						200.0	180.0	187.0					9																	15423939		2203	4300	6503	SO:0001583	missense	6619	exon2			ACGGTGAGGATCC	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.347A>T	chr9.hg19:g.15423939A>T	ENSP00000370200:p.Glu116Val	115.0	0.0		145.0	11.0	NM_001039697	D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	hg19	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304125	0.23736	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.51817	0.69	5.79	4.64	0.57946	.	0.331668	0.33253	N	0.005112	T	0.58779	0.2146	M	0.62723	1.935	0.25786	N	0.984671	D;P	0.61080	0.989;0.704	P;B	0.58266	0.836;0.145	T	0.55341	-0.8156	10	0.87932	D	0	-7.6058	10.0758	0.42360	0.8313:0.1687:0.0:0.0	.	87;116	B4DDR9;Q92966	.;SNPC3_HUMAN	V	116;116;87;116	ENSP00000370200:E116V	ENSP00000370185:E116V	E	+	2	0	SNAPC3	15413939	1.000000	0.71417	0.078000	0.20375	0.007000	0.05969	3.188000	0.50958	1.001000	0.39076	0.533000	0.62120	GAG	.	.		0.398	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697	
HAUS6	54801	hgsc.bcm.edu	37	9	19076617	19076617	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr9:19076617T>C	ENST00000380502.3	-	11	1744	c.1277A>G	c.(1276-1278)tAt>tGt	p.Y426C	HAUS6_ENST00000380496.1_Missense_Mutation_p.Y290C|RNU6-264P_ENST00000517134.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	426					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGAAGCAGGATACTGACAAAG	0.333																																					p.Y426C		Atlas-SNP	.											.	HAUS6	66	.	0			c.A1277G						.						78.0	75.0	76.0					9																	19076617		2203	4300	6503	SO:0001583	missense	54801	exon11			GCAGGATACTGAC	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1277A>G	chr9.hg19:g.19076617T>C	ENSP00000369871:p.Tyr426Cys	353.0	0.0		446.0	153.0	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	hg19	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070931	0.55646	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.39229	1.09;1.13	5.46	5.46	0.80206	.	0.119049	0.64402	D	0.000017	T	0.65004	0.2650	M	0.77616	2.38	0.48901	D	0.999729	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.98;0.999;0.988	T	0.68526	-0.5385	10	0.59425	D	0.04	-14.1711	13.7502	0.62904	0.0:0.0:0.0:1.0	.	391;426;290;426	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	C	426;290	ENSP00000369871:Y426C;ENSP00000369865:Y290C	ENSP00000369865:Y290C	Y	-	2	0	HAUS6	19066617	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	3.185000	0.50934	2.186000	0.69663	0.482000	0.46254	TAT	.	.		0.333	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
VPS13A	23230	hgsc.bcm.edu	37	9	79862174	79862174	+	Splice_Site	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr9:79862174G>T	ENST00000360280.3	+	20	2160		c.e20-1		VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site|VPS13A_ENST00000376636.3_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CATTTTTCCAGGTCTACTGTA	0.269																																					.		Atlas-SNP	.											VPS13A_ENST00000376634,NS,carcinoma,0,2	VPS13A	735	.	0			c.1901-1G>T						.						59.0	67.0	65.0					9																	79862174		2201	4282	6483	SO:0001630	splice_region_variant	23230	exon20			TTTCCAGGTCTAC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1901-1G>T	chr9.hg19:g.79862174G>T		264.0	0.0		228.0	108.0	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Splice_Site	SNP	ENST00000360280.3	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428053	0.62844	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0429	0.93008	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13A	79051994	1.000000	0.71417	0.996000	0.52242	0.584000	0.36387	8.994000	0.93529	2.571000	0.86741	0.563000	0.77884	.	.	.		0.269	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Intron
NCBP1	4686	hgsc.bcm.edu	37	9	100431136	100431136	+	Silent	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr9:100431136T>C	ENST00000375147.3	+	21	2281	c.2025T>C	c.(2023-2025)gaT>gaC	p.D675D		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	675					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AGCGAAGTGATGATGACGACA	0.418																																					p.D675D	Ovarian(36;879 898 2893 44212 50307)	Atlas-SNP	.											.	NCBP1	64	.	0			c.T2025C						.						85.0	83.0	84.0					9																	100431136		2203	4300	6503	SO:0001819	synonymous_variant	4686	exon21			AAGTGATGATGAC	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2025T>C	chr9.hg19:g.100431136T>C		135.0	0.0		90.0	43.0	NM_002486	B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	hg19	CCDS6728.1																																																																																			.	.		0.418	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
PCDH15	65217	hgsc.bcm.edu	37	10	55698674	55698674	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr10:55698674T>C	ENST00000320301.6	-	25	3668	c.3274A>G	c.(3274-3276)Aat>Gat	p.N1092D	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.N1099D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.N1097D|PCDH15_ENST00000437009.1_Missense_Mutation_p.N1021D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.N1099D|PCDH15_ENST00000395430.1_Missense_Mutation_p.N1092D|PCDH15_ENST00000395433.1_Missense_Mutation_p.N1070D|PCDH15_ENST00000409834.1_Missense_Mutation_p.N703D|PCDH15_ENST00000395438.1_Missense_Mutation_p.N1092D|PCDH15_ENST00000395432.2_Missense_Mutation_p.N1055D|PCDH15_ENST00000361849.3_Missense_Mutation_p.N1092D|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1092	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGAGGTCCATTCACATAGATA	0.383										HNSCC(58;0.16)																											p.N1097D		Atlas-SNP	.											.	PCDH15	1715	.	0			c.A3289G						.						106.0	99.0	102.0					10																	55698674		2203	4299	6502	SO:0001583	missense	65217	exon26			GTCCATTCACATA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3274A>G	chr10.hg19:g.55698674T>C	ENSP00000322604:p.Asn1092Asp	55.0	0.0		77.0	13.0	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053068	0.36181	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.71	4.59	0.56863	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.46852	0.1414	M	0.66439	2.03	0.24965	N	0.99171	B;B;B;B;B;B;B;B;B;B;B;B;B	0.29188	0.024;0.1;0.061;0.061;0.236;0.1;0.024;0.006;0.027;0.027;0.002;0.004;0.061	B;B;B;B;B;B;B;B;B;B;B;B;B	0.33960	0.06;0.038;0.038;0.038;0.173;0.038;0.06;0.042;0.038;0.038;0.012;0.012;0.038	T	0.43491	-0.9388	9	0.44086	T	0.13	.	7.6258	0.28212	0.0:0.1592:0.0:0.8408	.	1070;1092;1092;1097;1021;1055;1092;1092;1099;1099;1092;1097;1092	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	1099;1097;1092;1092;703;1099;1055;1092;1070;1092;1092;1097;1021	ENSP00000363076:N1099D;ENSP00000410304:N1097D;ENSP00000378826:N1092D;ENSP00000386693:N703D;ENSP00000378832:N1099D;ENSP00000378820:N1055D;ENSP00000354950:N1092D;ENSP00000378821:N1070D;ENSP00000322604:N1092D;ENSP00000378818:N1092D;ENSP00000412628:N1021D	ENSP00000322604:N1092D	N	-	1	0	PCDH15	55368680	0.945000	0.32115	0.993000	0.49108	0.472000	0.32918	2.210000	0.42816	2.175000	0.68902	0.533000	0.62120	AAT	.	.		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
CTNNA3	29119	hgsc.bcm.edu	37	10	67726454	67726454	+	Silent	SNP	A	A	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr10:67726454A>T	ENST00000433211.2	-	17	2490	c.2316T>A	c.(2314-2316)atT>atA	p.I772I	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.I772I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGTAGAACTTAATCTGTTCCA	0.408																																					p.I772I		Atlas-SNP	.											.	CTNNA3	401	.	0			c.T2316A						.						100.0	95.0	97.0					10																	67726454		2203	4300	6503	SO:0001819	synonymous_variant	29119	exon17			GAACTTAATCTGT	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2316T>A	chr10.hg19:g.67726454A>T		69.0	0.0		105.0	28.0	NM_013266		Silent	SNP	ENST00000433211.2	hg19	CCDS7269.1																																																																																			.	.		0.408	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
CTNNA3	29119	hgsc.bcm.edu	37	10	67862920	67862920	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr10:67862920C>T	ENST00000433211.2	-	14	2146	c.1972G>A	c.(1972-1974)Gat>Aat	p.D658N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D658N|RP11-210G22.1_ENST00000608793.1_RNA	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATACCCTATCAGTTTTCCCT	0.498																																					p.D658N		Atlas-SNP	.											.	CTNNA3	401	.	0			c.G1972A						.						230.0	173.0	192.0					10																	67862920		2203	4300	6503	SO:0001583	missense	29119	exon14			CCCTATCAGTTTT	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1972G>A	chr10.hg19:g.67862920C>T	ENSP00000389714:p.Asp658Asn	76.0	0.0		97.0	30.0	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	hg19	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854417	0.51270	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.42900	0.96;0.96	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000016	T	0.57373	0.2049	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.54417	-0.8297	10	0.48119	T	0.1	-19.0597	15.1792	0.72941	0.0:1.0:0.0:0.0	.	658	Q9UI47	CTNA3_HUMAN	N	658	ENSP00000389714:D658N;ENSP00000362849:D658N	ENSP00000362849:D658N	D	-	1	0	CTNNA3	67532926	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.818000	0.62657	2.715000	0.92844	0.655000	0.94253	GAT	.	.		0.498	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
GLUD1	2746	hgsc.bcm.edu	37	10	88827833	88827833	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr10:88827833G>A	ENST00000277865.4	-	5	824	c.728C>T	c.(727-729)aCc>aTc	p.T243I	GLUD1_ENST00000537649.1_Missense_Mutation_p.T76I|GLUD1_ENST00000544149.1_Missense_Mutation_p.T110I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	243					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GTGCCCTATGGTGCTGGCATA	0.507																																					p.T243I		Atlas-SNP	.											.	GLUD1	30	.	0			c.C728T						.						75.0	66.0	69.0					10																	88827833		2203	4300	6503	SO:0001583	missense	2746	exon5			CCTATGGTGCTGG	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.728C>T	chr10.hg19:g.88827833G>A	ENSP00000277865:p.Thr243Ile	40.0	0.0		68.0	21.0	NM_005271	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	hg19	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927186	0.92389	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.96365	-3.99;-3.9;-3.92	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	L	0.58583	1.82	0.80722	D	1	D;D	0.64830	0.972;0.994	P;D	0.66847	0.877;0.947	D	0.96848	0.9623	10	0.36615	T	0.2	.	18.8695	0.92308	0.0:0.0:1.0:0.0	.	110;243	B4DGN5;P00367	.;DHE3_HUMAN	I	243;200;76;175;110	ENSP00000277865:T243I;ENSP00000439291:T76I;ENSP00000444732:T110I	ENSP00000277865:T243I	T	-	2	0	GLUD1	88817813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.009000	0.88606	2.479000	0.83701	0.655000	0.94253	ACC	.	.		0.507	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271	
CCDC172	374355	hgsc.bcm.edu	37	10	118084838	118084838	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr10:118084838C>G	ENST00000333254.3	+	3	354	c.103C>G	c.(103-105)Cgt>Ggt	p.R35G	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	35																	AACCAGATGTCGTGAAAAAAT	0.333																																					p.R35G		Atlas-SNP	.											.	.	.	.	0			c.C103G						.						64.0	70.0	68.0					10																	118084838		2203	4300	6503	SO:0001583	missense	374355	exon3			AGATGTCGTGAAA	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.103C>G	chr10.hg19:g.118084838C>G	ENSP00000329860:p.Arg35Gly	227.0	0.0		292.0	100.0	NM_198515		Missense_Mutation	SNP	ENST00000333254.3	hg19	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665128	0.67700	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.49	5.49	0.81192	.	0.284478	0.35067	N	0.003469	T	0.67674	0.2918	M	0.68317	2.08	0.33284	D	0.562679	D	0.63046	0.992	P	0.61003	0.882	T	0.76719	-0.2856	9	0.62326	D	0.03	-20.681	15.2337	0.73411	0.0:1.0:0.0:0.0	.	35	P0C7W6	CJ096_HUMAN	G	35	.	ENSP00000329860:R35G	R	+	1	0	C10orf96	118074828	1.000000	0.71417	0.993000	0.49108	0.833000	0.47200	2.485000	0.45250	2.733000	0.93635	0.655000	0.94253	CGT	.	.		0.333	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	
JAKMIP3	282973	hgsc.bcm.edu	37	10	133955475	133955475	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr10:133955475T>C	ENST00000298622.4	+	10	1663	c.1525T>C	c.(1525-1527)Tac>Cac	p.Y509H		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	509						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GACCATGGAGTACCAGGCCCT	0.612																																					p.Y509H		Atlas-SNP	.											.	JAKMIP3	69	.	0			c.T1525C						.						103.0	66.0	79.0					10																	133955475		2201	4295	6496	SO:0001583	missense	282973	exon10			ATGGAGTACCAGG	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1525T>C	chr10.hg19:g.133955475T>C	ENSP00000298622:p.Tyr509His	57.0	0.0		43.0	11.0	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	hg19	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330270	0.81690	.	.	ENSG00000188385	ENST00000298622	T	0.33216	1.42	3.87	3.87	0.44632	.	0.070244	0.64402	D	0.000015	T	0.45094	0.1325	L	0.50333	1.59	0.51482	D	0.99992	D	0.76494	0.999	D	0.85130	0.997	T	0.24870	-1.0148	10	0.15499	T	0.54	-13.3685	13.151	0.59490	0.0:0.0:0.0:1.0	.	509	Q5VZ66	JKIP3_HUMAN	H	509	ENSP00000298622:Y509H	ENSP00000298622:Y509H	Y	+	1	0	JAKMIP3	133805465	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.430000	0.80321	1.772000	0.52199	0.459000	0.35465	TAC	.	.		0.612	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
TSPAN4	7106	hgsc.bcm.edu	37	11	862548	862548	+	Splice_Site	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:862548A>G	ENST00000397404.1	+	4	322		c.e4-1		TSPAN4_ENST00000525201.1_Splice_Site|TSPAN4_ENST00000397408.1_Splice_Site|TSPAN4_ENST00000397397.2_Splice_Site|TSPAN4_ENST00000397396.1_Splice_Site|TSPAN4_ENST00000409543.2_Splice_Site|TSPAN4_ENST00000346501.4_Splice_Site|TSPAN4_ENST00000409531.1_Splice_Site|TSPAN4_ENST00000397411.2_Splice_Site|TSPAN4_ENST00000397406.1_Splice_Site|RP11-1391J7.1_ENST00000506172.2_RNA	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4						protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGTGCCCCAGCTGGGAGGC	0.677																																					.		Atlas-SNP	.											.	TSPAN4	14	.	0			c.64-2A>G						.						48.0	46.0	46.0					11																	862548		2201	4299	6500	SO:0001630	splice_region_variant	7106	exon3			TGCCCCAGCTGGG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.64-1A>G	chr11.hg19:g.862548A>G		36.0	0.0		36.0	12.0	NM_001025238	Q6IAP6	Splice_Site	SNP	ENST00000397404.1	hg19	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798074	0.50208	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397408;ENST00000530404;ENST00000397406;ENST00000409543;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	.	.	.	3.67	2.45	0.29901	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0231	0.42055	0.8309:0.1691:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSPAN4	852548	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	7.213000	0.77950	1.551000	0.49450	0.459000	0.35465	.	.	.		0.677	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2		Intron
DCHS1	8642	hgsc.bcm.edu	37	11	6651061	6651061	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:6651061G>T	ENST00000299441.3	-	11	5288	c.4877C>A	c.(4876-4878)tCc>tAc	p.S1626Y	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1626	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGCGGCGGGGAGCCGTGGTC	0.652																																					p.S1626Y		Atlas-SNP	.											.	DCHS1	277	.	0			c.C4877A						.						43.0	44.0	44.0					11																	6651061		2201	4296	6497	SO:0001583	missense	8642	exon11			GGCGGGGAGCCGT	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4877C>A	chr11.hg19:g.6651061G>T	ENSP00000299441:p.Ser1626Tyr	39.0	0.0		57.0	19.0	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599438	0.03744	.	.	ENSG00000166341	ENST00000299441	T	0.03607	3.87	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.000000	0.47455	D	0.000226	T	0.07279	0.0184	M	0.85197	2.74	0.37836	D	0.928884	P	0.44578	0.838	B	0.40329	0.326	T	0.02202	-1.1196	10	0.51188	T	0.08	.	5.9413	0.19194	0.0969:0.0:0.7112:0.1919	.	1626	Q96JQ0	PCD16_HUMAN	Y	1626	ENSP00000299441:S1626Y	ENSP00000299441:S1626Y	S	-	2	0	DCHS1	6607637	0.995000	0.38212	0.999000	0.59377	0.021000	0.10359	1.422000	0.34826	2.668000	0.90789	0.563000	0.77884	TCC	.	.		0.652	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
DCHS1	8642	hgsc.bcm.edu	37	11	6662053	6662053	+	Silent	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:6662053C>A	ENST00000299441.3	-	2	1203	c.792G>T	c.(790-792)gtG>gtT	p.V264V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTCTCAGACACCACAGCAT	0.612																																					p.V264V		Atlas-SNP	.											.	DCHS1	277	.	0			c.G792T						.						78.0	81.0	80.0					11																	6662053		2201	4296	6497	SO:0001819	synonymous_variant	8642	exon2			CTCAGACACCACA	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.792G>T	chr11.hg19:g.6662053C>A		70.0	0.0		97.0	39.0	NM_003737	O15098	Silent	SNP	ENST00000299441.3	hg19	CCDS7771.1																																																																																			.	.		0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
TRIM66	9866	hgsc.bcm.edu	37	11	8667371	8667371	+	Missense_Mutation	SNP	G	G	T	rs141069498	byFrequency	TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:8667371G>T	ENST00000299550.6	-	7	780	c.586C>A	c.(586-588)Cgt>Agt	p.R196S	TRIM66_ENST00000402157.2_Missense_Mutation_p.R194S|TRIM66_ENST00000531498.1_5'UTR	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	196						aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						TCAAACTGACGGTTGAGAACC	0.468																																					p.R196S		Atlas-SNP	.											TRIM66,NS,carcinoma,0,1	TRIM66	45	.	0			c.C586A						.						145.0	130.0	135.0					11																	8667371		692	1591	2283	SO:0001583	missense	9866	exon7			ACTGACGGTTGAG	AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.586C>A	chr11.hg19:g.8667371G>T	ENSP00000299550:p.Arg196Ser	70.0	0.0		129.0	34.0	NM_014818	Q9BQQ4	Missense_Mutation	SNP	ENST00000299550.6	hg19		.	.	.	.	.	.	.	.	.	.	G	18.95	3.730976	0.69074	.	.	ENSG00000166436	ENST00000299550;ENST00000402157	T;T	0.18960	2.18;2.18	5.36	5.36	0.76844	B-box, C-terminal (1);	0.169698	0.35407	N	0.003228	T	0.20495	0.0493	L	0.27053	0.805	0.25979	N	0.982392	P;D	0.60160	0.949;0.987	P;P	0.50440	0.466;0.641	T	0.09143	-1.0688	10	0.30078	T	0.28	-17.6435	11.3812	0.49759	0.0:0.118:0.6911:0.1909	.	196;194	O15016;B5MCJ9	TRI66_HUMAN;.	S	196;194	ENSP00000299550:R196S;ENSP00000384876:R194S	ENSP00000299550:R196S	R	-	1	0	TRIM66	8623947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.499000	0.35671	2.894000	0.99253	0.591000	0.81541	CGT	.	G|1.000;A|0.000		0.468	TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_084529	
LUZP2	338645	hgsc.bcm.edu	37	11	25004794	25004794	+	Silent	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:25004794C>A	ENST00000336930.6	+	9	786	c.720C>A	c.(718-720)ccC>ccA	p.P240P	LUZP2_ENST00000533227.1_Silent_p.P154P			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	240						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TACTCCCACCCAGGAATATTG	0.448																																					p.P240P		Atlas-SNP	.											.	LUZP2	90	.	0			c.C720A						.						142.0	124.0	130.0					11																	25004794		2203	4300	6503	SO:0001819	synonymous_variant	338645	exon9			CCCACCCAGGAAT	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.720C>A	chr11.hg19:g.25004794C>A		75.0	0.0		85.0	30.0	NM_001009909	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	hg19	CCDS31446.1																																																																																			.	.		0.448	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
PRDM11	56981	hgsc.bcm.edu	37	11	45246226	45246226	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:45246226G>A	ENST00000530656.1	+	7	1303	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	PRDM11_ENST00000263765.4_Missense_Mutation_p.D435N|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.D401N|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	435							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCTTGCATCTGACCCTCATGA	0.542																																					p.D401N	NSCLC(118;1511 1736 6472 36603 43224)	Atlas-SNP	.											.	PRDM11	53	.	0			c.G1201A						.						206.0	212.0	210.0					11																	45246226		2203	4299	6502	SO:0001583	missense	56981	exon7			GCATCTGACCCTC	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1303G>A	chr11.hg19:g.45246226G>A	ENSP00000435976:p.Asp435Asn	117.0	0.0		147.0	53.0	NM_001256695	Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.32	1.901876	0.33535	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.25579	1.79;1.79;1.79	5.68	5.68	0.88126	.	0.091877	0.47852	D	0.000215	T	0.13884	0.0336	N	0.12182	0.205	0.09310	N	0.999996	B	0.32653	0.379	B	0.30029	0.11	T	0.17745	-1.0359	10	0.36615	T	0.2	-38.1012	10.2455	0.43339	0.1461:0.0:0.8539:0.0	.	435	Q9NQV5	PRD11_HUMAN	N	435;435;401	ENSP00000263765:D435N;ENSP00000435976:D435N;ENSP00000394314:D401N	ENSP00000263765:D435N	D	+	1	0	PRDM11	45202802	0.974000	0.33945	0.758000	0.31321	0.861000	0.49209	3.774000	0.55341	2.689000	0.91719	0.655000	0.94253	GAC	.	.		0.542	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229	
LRP4	4038	hgsc.bcm.edu	37	11	46897190	46897190	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:46897190A>T	ENST00000378623.1	-	27	3984	c.3742T>A	c.(3742-3744)Ttg>Atg	p.L1248M	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1248					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGTGACACCAATGTATGCCGA	0.572																																					p.L1248M		Atlas-SNP	.											.	LRP4	160	.	0			c.T3742A						.						73.0	55.0	61.0					11																	46897190		2201	4299	6500	SO:0001583	missense	4038	exon27			ACACCAATGTATG	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3742T>A	chr11.hg19:g.46897190A>T	ENSP00000367888:p.Leu1248Met	70.0	0.0		75.0	22.0	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	hg19	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372682	0.61624	.	.	ENSG00000134569	ENST00000378623	D	0.92048	-2.96	5.61	-1.59	0.08453	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.92993	0.7770	L	0.60957	1.885	0.46298	D	0.998974	D	0.58620	0.983	D	0.64237	0.923	D	0.90827	0.4713	10	0.72032	D	0.01	.	11.0797	0.48053	0.4069:0.0:0.5931:0.0	.	1248	O75096	LRP4_HUMAN	M	1248	ENSP00000367888:L1248M	ENSP00000367888:L1248M	L	-	1	2	LRP4	46853766	0.893000	0.30496	0.080000	0.20451	0.913000	0.54294	1.340000	0.33896	-0.327000	0.08551	0.454000	0.30748	TTG	.	.		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
OR9I1	219954	hgsc.bcm.edu	37	11	57886845	57886845	+	Silent	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:57886845C>T	ENST00000302610.1	-	1	71	c.72G>A	c.(70-72)gaG>gaA	p.E24E	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGAGGGGAATCTCCAATTTGG	0.448																																					p.E24E		Atlas-SNP	.											.	OR9I1	53	.	0			c.G72A						.						93.0	85.0	88.0					11																	57886845		2201	4296	6497	SO:0001819	synonymous_variant	219954	exon1			GGGAATCTCCAAT	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.72G>A	chr11.hg19:g.57886845C>T		125.0	0.0		149.0	39.0	NM_001005211	Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	hg19	CCDS31542.1																																																																																			.	.		0.448	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211	
TEX40	25858	hgsc.bcm.edu	37	11	64070969	64070969	+	Missense_Mutation	SNP	T	T	C	rs372953044		TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:64070969T>C	ENST00000328404.6	+	3	388	c.368T>C	c.(367-369)aTg>aCg	p.M123T	ESRRA_ENST00000405666.1_5'Flank|TEX40_ENST00000539943.1_Missense_Mutation_p.M81T|RP11-783K16.10_ENST00000539086.1_RNA|ESRRA_ENST00000000442.6_5'Flank|ESRRA_ENST00000406310.1_5'Flank	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40	123					cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											TCTTCCTCAATGTCATCACTC	0.562																																					p.M123T		Atlas-SNP	.											.	.	.	.	0			c.T368C						.	T	THR/MET	1,4059		0,1,2029	71.0	72.0	71.0		368	-5.6	0.0	11		71	0,8370		0,0,4185	no	missense	C11orf20	NM_001039496.1	81	0,1,6214	CC,CT,TT		0.0,0.0246,0.0080	benign	123/201	64070969	1,12429	2030	4185	6215	SO:0001583	missense	25858	exon3			CCTCAATGTCATC			11q13.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000219435	ENSG00000219435			19231	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 20"""	C11orf20			Standard	NM_001039496		Approved	DKFZP566E164	uc009ypm.3	Q9NTU4	OTTHUMG00000167820	ENST00000328404.6:c.368T>C	chr11.hg19:g.64070969T>C	ENSP00000330877:p.Met123Thr	60.0	0.0		58.0	16.0	NM_001039496		Missense_Mutation	SNP	ENST00000328404.6	hg19		.	.	.	.	.	.	.	.	.	.	T	2.719	-0.266993	0.05754	2.46E-4	0.0	ENSG00000219435	ENST00000328404;ENST00000539943	T;T	0.41758	0.99;0.99	3.76	-5.56	0.02529	.	.	.	.	.	T	0.14743	0.0356	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18713	-1.0328	9	0.26408	T	0.33	-0.0472	4.7875	0.13232	0.5056:0.3005:0.0:0.1939	.	123	Q9NTU4	CK020_HUMAN	T	123;81	ENSP00000330877:M123T;ENSP00000443917:M81T	ENSP00000330877:M123T	M	+	2	0	C11orf20	63827545	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.740000	0.04861	-1.151000	0.02836	-0.411000	0.06167	ATG	.	.		0.562	TEX40-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039496	
PGM2L1	283209	hgsc.bcm.edu	37	11	74049640	74049640	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:74049640G>T	ENST00000298198.4	-	13	1950	c.1639C>A	c.(1639-1641)Cct>Act	p.P547T		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	547					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTACTCACAGGCAGCACCTAT	0.338																																					p.P547T		Atlas-SNP	.											.	PGM2L1	59	.	0			c.C1639A						.						105.0	94.0	97.0					11																	74049640		2200	4293	6493	SO:0001583	missense	283209	exon13			TCACAGGCAGCAC	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1639C>A	chr11.hg19:g.74049640G>T	ENSP00000298198:p.Pro547Thr	63.0	0.0		100.0	8.0	NM_173582	Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	hg19	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531379	0.85706	.	.	ENSG00000165434	ENST00000298198	T	0.28895	1.59	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	H	0.95780	3.72	0.80722	D	1	D	0.60575	0.988	P	0.62014	0.897	T	0.72561	-0.4256	10	0.38643	T	0.18	-13.2641	17.2446	0.87023	0.0:0.0:1.0:0.0	.	547	Q6PCE3	PGM2L_HUMAN	T	547	ENSP00000298198:P547T	ENSP00000298198:P547T	P	-	1	0	PGM2L1	73727288	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.435000	0.97529	2.737000	0.93849	0.563000	0.77884	CCT	.	.		0.338	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582	
UBE4A	9354	hgsc.bcm.edu	37	11	118243850	118243850	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:118243850A>G	ENST00000431736.2	+	7	864	c.792A>G	c.(790-792)atA>atG	p.I264M	UBE4A_ENST00000252108.3_Missense_Mutation_p.I257M					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAGCCTTGATATTGGATGAGG	0.368																																					p.I264M		Atlas-SNP	.											.	UBE4A	97	.	0			c.A792G						.						125.0	120.0	122.0					11																	118243850		2200	4296	6496	SO:0001583	missense	9354	exon7			CTTGATATTGGAT	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.792A>G	chr11.hg19:g.118243850A>G	ENSP00000387362:p.Ile264Met	96.0	0.0		101.0	35.0	NM_004788		Missense_Mutation	SNP	ENST00000431736.2	hg19	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.682336	0.29872	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.51325	0.71;0.71	6.04	1.18	0.20946	.	0.505173	0.22526	N	0.058917	T	0.24890	0.0604	N	0.14661	0.345	0.24368	N	0.994847	B;B	0.21381	0.055;0.014	B;B	0.20384	0.013;0.029	T	0.11203	-1.0597	10	0.34782	T	0.22	0.0129	5.2164	0.15344	0.4196:0.0:0.4326:0.1478	.	257;264	Q14139;Q14139-2	UBE4A_HUMAN;.	M	257;264	ENSP00000252108:I257M;ENSP00000387362:I264M	ENSP00000252108:I257M	I	+	3	3	UBE4A	117749060	0.077000	0.21312	0.048000	0.18961	0.983000	0.72400	0.398000	0.20899	0.167000	0.19631	0.460000	0.39030	ATA	.	.		0.368	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
TECTA	7007	hgsc.bcm.edu	37	11	120996462	120996462	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr11:120996462A>G	ENST00000392793.1	+	8	1926	c.1655A>G	c.(1654-1656)tAt>tGt	p.Y552C	TECTA_ENST00000264037.2_Missense_Mutation_p.Y552C			O75443	TECTA_HUMAN	tectorin alpha	552					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGCTGCGTGTATGACCTGTGC	0.572																																					p.Y552C		Atlas-SNP	.											.	TECTA	329	.	0			c.A1655G						.						117.0	111.0	113.0					11																	120996462		2203	4299	6502	SO:0001583	missense	7007	exon7			GCGTGTATGACCT	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1655A>G	chr11.hg19:g.120996462A>G	ENSP00000376543:p.Tyr552Cys	27.0	0.0		35.0	13.0	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370069	0.61624	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77620	-1.11;-1.11	4.91	3.7	0.42460	Uncharacterised domain, cysteine-rich (2);	0.069187	0.64402	D	0.000012	D	0.88829	0.6543	M	0.91972	3.26	0.41971	D	0.990752	D	0.89917	1.0	D	0.79108	0.992	D	0.90293	0.4324	10	0.62326	D	0.03	.	10.7621	0.46270	0.8579:0.0:0.0:0.1421	.	552	O75443	TECTA_HUMAN	C	552	ENSP00000376543:Y552C;ENSP00000264037:Y552C	ENSP00000264037:Y552C	Y	+	2	0	TECTA	120501672	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.948000	0.70249	1.985000	0.57927	0.460000	0.39030	TAT	.	.		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
A2M	2	hgsc.bcm.edu	37	12	9265122	9265122	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:9265122G>A	ENST00000318602.7	-	3	588	c.281C>T	c.(280-282)tCt>tTt	p.S94F		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	94					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	ATTGGATGAAGACTTTGGGAC	0.498																																					p.S94F		Atlas-SNP	.											.	A2M	180	.	0			c.C281T						.						75.0	71.0	72.0					12																	9265122		1934	4122	6056	SO:0001583	missense	2	exon3			GATGAAGACTTTG	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.281C>T	chr12.hg19:g.9265122G>A	ENSP00000323929:p.Ser94Phe	58.0	0.0		54.0	18.0	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	hg19	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	1.778	-0.482539	0.04383	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.08193	3.12;3.12	5.77	1.41	0.22369	.	1.202260	0.05790	N	0.610215	T	0.11623	0.0283	M	0.75264	2.295	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.51020	-0.8758	10	0.10111	T	0.7	.	8.3819	0.32477	0.3669:0.0:0.6331:0.0	.	94	P01023	A2MG_HUMAN	F	94;109;94	ENSP00000323929:S94F;ENSP00000385710:S94F	ENSP00000323929:S94F	S	-	2	0	A2M	9156389	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.422000	0.34826	0.369000	0.24510	-0.137000	0.14449	TCT	.	.		0.498	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
CNTN1	1272	hgsc.bcm.edu	37	12	41331460	41331460	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:41331460T>C	ENST00000551295.2	+	11	1316	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T	CNTN1_ENST00000360099.3_Missense_Mutation_p.I400T|CNTN1_ENST00000348761.2_Missense_Mutation_p.I389T|CNTN1_ENST00000547702.1_Missense_Mutation_p.I400T|CNTN1_ENST00000547849.1_Missense_Mutation_p.I400T|CNTN1_ENST00000347616.1_Missense_Mutation_p.I400T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	400	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TATGGAGCCATTTATGCAAAT	0.323																																					p.I400T		Atlas-SNP	.											.	CNTN1	207	.	0			c.T1199C						.						125.0	121.0	122.0					12																	41331460		2203	4300	6503	SO:0001583	missense	1272	exon11			GAGCCATTTATGC	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1199T>C	chr12.hg19:g.41331460T>C	ENSP00000447006:p.Ile400Thr	92.0	0.0		151.0	45.0	NM_001256063	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	hg19	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446066	0.63178	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106747	0.64402	D	0.000015	T	0.70868	0.3273	L	0.41710	1.295	0.47341	D	0.999396	D;P;P	0.59767	0.986;0.851;0.877	D;B;P	0.65874	0.939;0.395;0.53	T	0.73285	-0.4031	10	0.59425	D	0.04	.	15.4901	0.75600	0.0:0.0:0.0:1.0	.	400;389;400	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	T	400;400;400;400;400;389	ENSP00000448004:I400T;ENSP00000447006:I400T;ENSP00000448653:I400T;ENSP00000325660:I400T;ENSP00000353213:I400T;ENSP00000261160:I389T	ENSP00000325660:I400T	I	+	2	0	CNTN1	39617727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.728000	0.68531	2.132000	0.65825	0.533000	0.62120	ATT	.	.		0.323	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
ZNF740	283337	hgsc.bcm.edu	37	12	53578697	53578697	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:53578697G>A	ENST00000416904.3	+	3	477	c.32G>A	c.(31-33)gGc>gAc	p.G11D		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						GCTTGTGAAGGCCTAGCAGGT	0.552																																					p.G11D		Atlas-SNP	.											.	ZNF740	15	.	0			c.G32A						.						43.0	43.0	43.0					12																	53578697		2101	4238	6339	SO:0001583	missense	283337	exon3			GTGAAGGCCTAGC	BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"""Zinc fingers, C2H2-type"""	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.32G>A	chr12.hg19:g.53578697G>A	ENSP00000409463:p.Gly11Asp	76.0	0.0		109.0	13.0	NM_001004304	A8K9M9	Missense_Mutation	SNP	ENST00000416904.3	hg19	CCDS44896.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347809	0.82022	.	.	ENSG00000139651	ENST00000416904	T	0.08008	3.14	4.95	4.95	0.65309	.	0.128966	0.32918	N	0.005493	T	0.05364	0.0142	N	0.08118	0	0.35686	D	0.814451	D	0.58620	0.983	B	0.40101	0.319	T	0.35895	-0.9770	10	0.87932	D	0	-7.9496	15.5834	0.76462	0.0:0.0:1.0:0.0	.	11	Q8NDX6	ZN740_HUMAN	D	11	ENSP00000409463:G11D	ENSP00000409463:G11D	G	+	2	0	ZNF740	51864964	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.237000	0.65360	2.753000	0.94483	0.455000	0.32223	GGC	.	.		0.552	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2	NM_001004304	
OR6C2	341416	hgsc.bcm.edu	37	12	55846217	55846217	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:55846217G>T	ENST00000322678.1	+	1	220	c.220G>T	c.(220-222)Gtc>Ttc	p.V74F	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	74					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATTTACTACAGTCTGCATTCC	0.383																																					p.V74F		Atlas-SNP	.											.	OR6C2	39	.	0			c.G220T						.						114.0	117.0	116.0					12																	55846217		2203	4300	6503	SO:0001583	missense	341416	exon1			ACTACAGTCTGCA	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.220G>T	chr12.hg19:g.55846217G>T	ENSP00000323606:p.Val74Phe	66.0	0.0		94.0	6.0	NM_054105		Missense_Mutation	SNP	ENST00000322678.1	hg19	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623632	0.28889	.	.	ENSG00000179695	ENST00000322678	T	0.01240	5.12	5.42	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.120271	0.37437	N	0.002098	T	0.02727	0.0082	M	0.84219	2.685	0.09310	N	1	B	0.19817	0.039	B	0.25506	0.061	T	0.34129	-0.9841	10	0.72032	D	0.01	.	3.9661	0.09433	0.2398:0.0:0.5878:0.1724	.	74	Q9NZP2	OR6C2_HUMAN	F	74	ENSP00000323606:V74F	ENSP00000323606:V74F	V	+	1	0	OR6C2	54132484	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.421000	0.21280	1.527000	0.49086	0.609000	0.83330	GTC	.	.		0.383	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105	
OR6C70	390327	hgsc.bcm.edu	37	12	55863831	55863831	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:55863831A>G	ENST00000327335.4	-	1	91	c.92T>C	c.(91-93)cTa>cCa	p.L31P	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CACACAATTTAGAAGTAGAAA	0.368																																					p.L31P		Atlas-SNP	.											.	OR6C70	35	.	0			c.T92C						.						48.0	50.0	49.0					12																	55863831		2203	4298	6501	SO:0001583	missense	390327	exon1			CAATTTAGAAGTA		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.92T>C	chr12.hg19:g.55863831A>G	ENSP00000329153:p.Leu31Pro	130.0	0.0		125.0	32.0	NM_001005499		Missense_Mutation	SNP	ENST00000327335.4	hg19	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808874	0.31961	.	.	ENSG00000184954	ENST00000327335	T	0.00441	7.41	3.89	3.89	0.44902	.	0.000000	0.38492	N	0.001679	T	0.00845	0.0028	M	0.80847	2.515	0.20563	N	0.999882	P	0.52692	0.955	P	0.55871	0.786	T	0.35500	-0.9786	10	0.72032	D	0.01	.	10.0492	0.42205	0.8314:0.1686:0.0:0.0	.	31	A6NIJ9	O6C70_HUMAN	P	31	ENSP00000329153:L31P	ENSP00000329153:L31P	L	-	2	0	OR6C70	54150098	0.090000	0.21635	0.950000	0.38849	0.168000	0.22595	3.556000	0.53734	1.771000	0.52183	0.451000	0.29950	CTA	.	.		0.368	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1		
SLC6A15	55117	hgsc.bcm.edu	37	12	85255460	85255460	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:85255460C>T	ENST00000266682.5	-	12	2685	c.2144G>A	c.(2143-2145)gGg>gAg	p.G715E	SLC6A15_ENST00000552192.1_Missense_Mutation_p.G608E|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	715					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CATCAAGTACCCTATTCCATA	0.413																																					p.G715E		Atlas-SNP	.											.	SLC6A15	159	.	0			c.G2144A						.						133.0	127.0	129.0					12																	85255460		2203	4300	6503	SO:0001583	missense	55117	exon12			AAGTACCCTATTC	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2144G>A	chr12.hg19:g.85255460C>T	ENSP00000266682:p.Gly715Glu	119.0	0.0		129.0	40.0	NM_182767	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	hg19	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175434	0.78564	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.76578	-0.85;-1.03	5.6	5.6	0.85130	.	0.221574	0.46145	D	0.000311	D	0.85318	0.5669	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.86037	0.1517	10	0.72032	D	0.01	.	19.6223	0.95663	0.0:1.0:0.0:0.0	.	715	Q9H2J7	S6A15_HUMAN	E	715;608;193	ENSP00000266682:G715E;ENSP00000450145:G608E	ENSP00000266682:G715E	G	-	2	0	SLC6A15	83779591	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.274000	0.78538	2.616000	0.88540	0.655000	0.94253	GGG	.	.		0.413	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
UTP20	27340	hgsc.bcm.edu	37	12	101736269	101736269	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:101736269C>A	ENST00000261637.4	+	33	4321	c.4147C>A	c.(4147-4149)Cat>Aat	p.H1383N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1383					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTGTTAAAGCATTGTGTGGA	0.343																																					p.H1383N		Atlas-SNP	.											.	UTP20	222	.	0			c.C4147A						.						78.0	80.0	79.0					12																	101736269		2203	4300	6503	SO:0001583	missense	27340	exon33			TTAAAGCATTGTG	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4147C>A	chr12.hg19:g.101736269C>A	ENSP00000261637:p.His1383Asn	82.0	0.0		80.0	4.0	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	hg19	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	1.247	-0.619766	0.03636	.	.	ENSG00000120800	ENST00000261637	T	0.63913	-0.07	4.89	2.79	0.32731	Armadillo-type fold (1);	0.311028	0.35615	N	0.003090	T	0.47469	0.1447	L	0.28115	0.83	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.29518	-1.0009	10	0.25106	T	0.35	-15.6791	14.857	0.70344	0.2733:0.7267:0.0:0.0	.	1383	O75691	UTP20_HUMAN	N	1383	ENSP00000261637:H1383N	ENSP00000261637:H1383N	H	+	1	0	UTP20	100260400	0.989000	0.36119	0.003000	0.11579	0.937000	0.57800	2.997000	0.49457	1.029000	0.39812	0.650000	0.86243	CAT	.	.		0.343	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
HECTD4	283450	hgsc.bcm.edu	37	12	112638561	112638561	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:112638561T>A	ENST00000430131.2	-	54	8327	c.7182A>T	c.(7180-7182)gaA>gaT	p.E2394D	HECTD4_ENST00000550722.1_Missense_Mutation_p.E2670D|HECTD4_ENST00000377560.5_Missense_Mutation_p.E2644D			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2394					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCAGCACACCTTCACTGCGGA	0.488																																					p.E2682D		Atlas-SNP	.											.	.	.	.	0			c.A8046T						.						130.0	127.0	128.0					12																	112638561		2078	4229	6307	SO:0001583	missense	283450	exon55			CACACCTTCACTG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7182A>T	chr12.hg19:g.112638561T>A	ENSP00000404379:p.Glu2394Asp	168.0	0.0		157.0	59.0	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	T	16.98	3.272532	0.59649	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000548896	T;T;T	0.23348	1.91;1.91;1.91	5.86	3.53	0.40419	.	.	.	.	.	T	0.33847	0.0877	L	0.29908	0.895	0.41902	D	0.990429	P	0.52842	0.956	D	0.65010	0.931	T	0.07083	-1.0791	9	0.87932	D	0	.	9.3388	0.38067	0.0:0.2177:0.0:0.7823	.	2394	Q9Y4D8	K0614_HUMAN	D	2644;2394;2670;25	ENSP00000366783:E2644D;ENSP00000404379:E2394D;ENSP00000449784:E2670D	ENSP00000366783:E2644D	E	-	3	2	C12orf51	111122944	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	0.738000	0.26158	0.577000	0.29470	0.528000	0.53228	GAA	.	.		0.488	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
COQ5	84274	hgsc.bcm.edu	37	12	120954429	120954429	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr12:120954429A>C	ENST00000288532.6	-	3	555	c.515T>G	c.(514-516)aTc>aGc	p.I172S	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	172					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCTTGTTGATGTCACACAC	0.473																																					p.I172S		Atlas-SNP	.											.	COQ5	26	.	0			c.T515G						.						290.0	283.0	285.0					12																	120954429		2203	4300	6503	SO:0001583	missense	84274	exon3			TTGTTGATGTCAC	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.515T>G	chr12.hg19:g.120954429A>C	ENSP00000288532:p.Ile172Ser	85.0	0.0		108.0	29.0	NM_032314	B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	hg19	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725950	0.89298	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000552443;ENST00000547943;ENST00000551769	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.41	5.41	0.78517	.	0.045311	0.85682	D	0.000000	D	0.84170	0.5413	M	0.88310	2.945	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.87505	0.2436	10	0.87932	D	0	.	15.112	0.72365	1.0:0.0:0.0:0.0	.	172	Q5HYK3	COQ5_HUMAN	S	172;120;91;122;91	ENSP00000288532:I172S;ENSP00000449863:I91S;ENSP00000449874:I122S;ENSP00000450001:I91S	ENSP00000288532:I172S	I	-	2	0	COQ5	119438812	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.983000	0.93477	2.051000	0.60960	0.455000	0.32223	ATC	.	.		0.473	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314	
ZMYM5	9205	hgsc.bcm.edu	37	13	20425899	20425899	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr13:20425899C>A	ENST00000337963.4	-	3	686	c.422G>T	c.(421-423)tGg>tTg	p.W141L	ZMYM5_ENST00000382907.4_Missense_Mutation_p.W141L|ZMYM5_ENST00000382905.4_Missense_Mutation_p.W141L	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	141						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AGGAAGTCCCCATTCGATAAA	0.373																																					p.W141L		Atlas-SNP	.											.	ZMYM5	73	.	0			c.G422T						.						82.0	87.0	85.0					13																	20425899		2203	4300	6503	SO:0001583	missense	9205	exon3			AGTCCCCATTCGA	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.422G>T	chr13.hg19:g.20425899C>A	ENSP00000337034:p.Trp141Leu	134.0	0.0		156.0	49.0	NM_001039650	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	hg19		.	.	.	.	.	.	.	.	.	.	C	15.10	2.733197	0.48939	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.41	4.41	0.53225	.	.	.	.	.	T	0.40956	0.1138	M	0.62723	1.935	0.33357	D	0.571851	P;P;D	0.57571	0.948;0.944;0.98	P;P;P	0.52957	0.666;0.714;0.714	T	0.54296	-0.8315	9	0.45353	T	0.12	-2.8604	17.5374	0.87835	0.0:1.0:0.0:0.0	.	141;141;141	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	L	141;131;141;141	ENSP00000337034:W141L;ENSP00000445779:W131L;ENSP00000372364:W141L;ENSP00000372361:W141L	ENSP00000337034:W141L	W	-	2	0	ZMYM5	19323899	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.131000	0.64751	2.468000	0.83385	0.491000	0.48974	TGG	.	.		0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
CCDC169	728591	hgsc.bcm.edu	37	13	36822795	36822795	+	Missense_Mutation	SNP	T	T	C	rs576535002		TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr13:36822795T>C	ENST00000239859.7	-	7	524	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E	CCDC169_ENST00000379864.2_Missense_Mutation_p.K63E|CCDC169_ENST00000503173.1_Missense_Mutation_p.K165E|CCDC169_ENST00000379862.2_Missense_Mutation_p.K63E|CCDC169_ENST00000491049.2_Missense_Mutation_p.K63E|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.K65E|CCDC169_ENST00000239860.6_Missense_Mutation_p.K65E|SOHLH2_ENST00000554962.1_Missense_Mutation_p.K65E|CCDC169_ENST00000510088.1_Missense_Mutation_p.K63E			A6NNP5	CC169_HUMAN	coiled-coil domain containing 169	165										breast(1)|endometrium(1)	2						TGTTGCCTTTTAGAAACTTGA	0.343													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16167	0.0		0.0	False		,,,				2504	0.0				p.K165E		Atlas-SNP	.											.	CCDC169	20	.	0			c.A493G						.						138.0	121.0	126.0					13																	36822795		692	1591	2283	SO:0001583	missense	728591	exon7			GCCTTTTAGAAAC		CCDS45027.1, CCDS45028.1, CCDS45029.1, CCDS53863.1, CCDS55897.1	13q13.3	2011-08-09	2011-08-09	2011-08-09	ENSG00000242715	ENSG00000242715			34361	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 38"""	C13orf38			Standard	NM_001144981		Approved	RP11-251J8.1, LOC728591		A6NNP5	OTTHUMG00000016731	ENST00000239859.7:c.493A>G	chr13.hg19:g.36822795T>C	ENSP00000239859:p.Lys165Glu	70.0	0.0		85.0	41.0	NM_001144981	A6NC13|A6NCT2|B7ZW45|B7ZW49|B9EJF2|Q9H1T4|Q9H1T5	Missense_Mutation	SNP	ENST00000239859.7	hg19	CCDS45028.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751749	0.69533	.	.	ENSG00000120669;ENSG00000250709;ENSG00000242715;ENSG00000242715;ENSG00000242715;ENSG00000242715;ENSG00000242715;ENSG00000242715;ENSG00000242715	ENST00000554962;ENST00000511166;ENST00000491049;ENST00000503173;ENST00000239860;ENST00000379864;ENST00000510088;ENST00000379862;ENST00000239859	T;T;T;T;T;T;D;D;D	0.87729	0.74;0.74;-1.02;-1.02;0.74;-1.02;-2.29;-2.29;-2.29	4.78	3.58	0.41010	.	0.211356	0.30252	N	0.010052	D	0.84437	0.5472	L	0.55990	1.75	0.27036	N	0.964139	P;P;P;P;P	0.52316	0.952;0.885;0.885;0.58;0.86	P;B;B;B;P	0.45610	0.487;0.406;0.406;0.196;0.453	T	0.78710	-0.2098	10	0.72032	D	0.01	-9.6269	8.7252	0.34465	0.0:0.0:0.1919:0.8081	.	165;65;63;65;165	A6NNP5-4;B7ZW49;A6NNP5-3;B4DX90;A6NNP5	.;.;.;.;CC169_HUMAN	E	65;65;63;165;65;63;63;63;165	ENSP00000451542:K65E;ENSP00000421868:K65E;ENSP00000425252:K63E;ENSP00000426174:K165E;ENSP00000239860:K65E;ENSP00000369193:K63E;ENSP00000427495:K63E;ENSP00000369191:K63E;ENSP00000239859:K165E	ENSP00000239859:K165E	K	-	1	0	CCDC169-SOHLH2;SOHLH2;CCDC169	35720795	0.999000	0.42202	0.862000	0.33874	0.961000	0.63080	1.091000	0.30915	1.132000	0.42129	0.528000	0.53228	AAA	.	.		0.343	CCDC169-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368255.1	NM_001144981	
MRPS31	10240	hgsc.bcm.edu	37	13	41345190	41345190	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr13:41345190G>A	ENST00000323563.6	-	1	119	c.83C>T	c.(82-84)gCg>gTg	p.A28V		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	28						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		AATCGCAGCCGCTGATGTCTC	0.602																																					p.A28V		Atlas-SNP	.											.	MRPS31	30	.	0			c.C83T						.						80.0	76.0	77.0					13																	41345190		2203	4300	6503	SO:0001583	missense	10240	exon1			GCAGCCGCTGATG	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.83C>T	chr13.hg19:g.41345190G>A	ENSP00000315397:p.Ala28Val	125.0	0.0		68.0	39.0	NM_005830	B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	hg19	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494276	0.26774	.	.	ENSG00000102738	ENST00000323563	T	0.29142	1.58	4.24	1.24	0.21308	.	2.088160	0.02261	N	0.067555	T	0.18635	0.0447	N	0.20986	0.625	0.09310	N	1	B	0.27117	0.168	B	0.16722	0.016	T	0.12734	-1.0536	10	0.19590	T	0.45	.	3.0438	0.06147	0.2311:0.0:0.5576:0.2113	.	28	Q92665	RT31_HUMAN	V	28	ENSP00000315397:A28V	ENSP00000315397:A28V	A	-	2	0	MRPS31	40243190	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	-0.127000	0.10547	0.524000	0.28502	0.563000	0.77884	GCG	.	.		0.602	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2		
GPR183	1880	hgsc.bcm.edu	37	13	99948232	99948232	+	Silent	SNP	A	A	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr13:99948232A>T	ENST00000376414.4	-	2	251	c.168T>A	c.(166-168)atT>atA	p.I56I	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	56					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TGTTTTGAACAATGACGACCA	0.433																																					p.I56I		Atlas-SNP	.											.	GPR183	38	.	0			c.T168A						.						96.0	94.0	95.0					13																	99948232		2203	4300	6503	SO:0001819	synonymous_variant	1880	exon2			TTGAACAATGACG	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.168T>A	chr13.hg19:g.99948232A>T		189.0	0.0		191.0	54.0	NM_004951	B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	hg19	CCDS9492.1																																																																																			.	.		0.433	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951	
NPAS3	64067	hgsc.bcm.edu	37	14	34269098	34269098	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr14:34269098G>A	ENST00000356141.4	+	12	1585	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	NPAS3_ENST00000551492.1_Missense_Mutation_p.D534N|NPAS3_ENST00000346562.2_Missense_Mutation_p.D497N|NPAS3_ENST00000548645.1_Missense_Mutation_p.D499N|NPAS3_ENST00000357798.5_Missense_Mutation_p.D516N			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	529					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCGCGACAGCGACGACAGCTT	0.642																																					p.D529N		Atlas-SNP	.											.	NPAS3	266	.	0			c.G1585A						.						55.0	57.0	56.0					14																	34269098		2203	4300	6503	SO:0001583	missense	64067	exon12			GACAGCGACGACA	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1585G>A	chr14.hg19:g.34269098G>A	ENSP00000348460:p.Asp529Asn	67.0	0.0		83.0	28.0	NM_001164749	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	hg19	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916481	0.73098	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71222	-0.55;3.11;3.12;3.12;3.11;2.98	5.17	4.27	0.50696	.	0.103202	0.64402	D	0.000005	T	0.53690	0.1812	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.47106	0.89;0.824;0.89;0.89	B;B;B;B	0.39217	0.294;0.154;0.294;0.294	T	0.56968	-0.7891	10	0.39692	T	0.17	.	15.6653	0.77225	0.0:0.1379:0.8621:0.0	.	499;529;497;516	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	N	503;534;497;499;529;516	ENSP00000448373:D503N;ENSP00000450392:D534N;ENSP00000319610:D497N;ENSP00000448916:D499N;ENSP00000348460:D529N;ENSP00000350446:D516N	ENSP00000319610:D497N	D	+	1	0	NPAS3	33338849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.413000	0.97351	1.148000	0.42385	0.555000	0.69702	GAC	.	.		0.642	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
DAAM1	23002	hgsc.bcm.edu	37	14	59819293	59819293	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr14:59819293A>G	ENST00000395125.1	+	18	2263	c.2240A>G	c.(2239-2241)cAt>cGt	p.H747R	DAAM1_ENST00000360909.3_Missense_Mutation_p.H737R|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.H747R	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	747	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTGGAGGAACATAAACACGAA	0.398																																					p.H747R		Atlas-SNP	.											.	DAAM1	95	.	0			c.A2240G						.						131.0	119.0	123.0					14																	59819293		2203	4300	6503	SO:0001583	missense	23002	exon18			AGGAACATAAACA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2240A>G	chr14.hg19:g.59819293A>G	ENSP00000378557:p.His747Arg	113.0	0.0		146.0	47.0	NM_014992	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	hg19	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677026	0.47886	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.17213	2.29;2.29;2.29	6.04	6.04	0.98038	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.84219	2.685	0.80722	D	1	D;P	0.76494	0.999;0.885	D;P	0.70487	0.969;0.833	T	0.37842	-0.9688	10	0.35671	T	0.21	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	737;747	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	R	737;747;747;747	ENSP00000354162:H737R;ENSP00000247170:H747R;ENSP00000378557:H747R	ENSP00000247170:H747R	H	+	2	0	DAAM1	58889046	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.317000	0.96327	2.317000	0.78254	0.460000	0.39030	CAT	.	.		0.398	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
NOXRED1	122945	hgsc.bcm.edu	37	14	77861072	77861072	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr14:77861072C>G	ENST00000380835.2	-	6	1148	c.982G>C	c.(982-984)Gtt>Ctt	p.V328L		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	328					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCTTGGAGAACAGGACTACTT	0.453																																					p.V328L		Atlas-SNP	.											.	NOXRED1	23	.	0			c.G982C						.						137.0	123.0	127.0					14																	77861072		1568	3582	5150	SO:0001583	missense	122945	exon6			GGAGAACAGGACT	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.982G>C	chr14.hg19:g.77861072C>G	ENSP00000370215:p.Val328Leu	151.0	0.0		186.0	59.0	NM_001113475	B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	hg19	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	4.173	0.030630	0.08101	.	.	ENSG00000165555	ENST00000380835	T	0.53423	0.62	5.14	-2.29	0.06805	.	1.143370	0.06369	N	0.713148	T	0.19327	0.0464	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16719	-1.0393	10	0.10377	T	0.69	0.1743	0.9	0.01272	0.3249:0.3176:0.1111:0.2464	.	328	Q6NXP6	NXRD1_HUMAN	L	328	ENSP00000370215:V328L	ENSP00000370215:V328L	V	-	1	0	C14orf148	76930825	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-1.667000	0.01961	-0.136000	0.11475	-0.257000	0.10917	GTT	.	.		0.453	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791	
GALC	2581	hgsc.bcm.edu	37	14	88431941	88431941	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr14:88431941T>C	ENST00000261304.2	-	9	1047	c.941A>G	c.(940-942)tAt>tGt	p.Y314C	GALC_ENST00000393569.2_Missense_Mutation_p.Y288C|GALC_ENST00000393568.4_Missense_Mutation_p.Y291C|GALC_ENST00000544807.2_Missense_Mutation_p.Y258C	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	314			Y -> C (in GLD). {ECO:0000269|PubMed:8940268}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAACTGTTCATAGTAACTAGC	0.423																																					p.Y314C		Atlas-SNP	.											.	GALC	48	.	0			c.A941G	GRCh37	CM960684	GALC	M		.						54.0	60.0	58.0					14																	88431941		1891	4125	6016	SO:0001583	missense	2581	exon9			TGTTCATAGTAAC	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.941A>G	chr14.hg19:g.88431941T>C	ENSP00000261304:p.Tyr314Cys	138.0	0.0		145.0	39.0	NM_000153	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	hg19	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585800	0.86748	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568;ENST00000445021	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.77	5.77	0.91146	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0	D	0.98440	1.0586	10	0.62326	D	0.03	-22.0506	15.3757	0.74602	0.0:0.0:0.0:1.0	.	258;291;288;314;314	P54803-5;E7EPA4;P54803-4;G3XAI6;P54803	.;.;.;.;GALC_HUMAN	C	314;258;288;103;291;314	ENSP00000261304:Y314C;ENSP00000437513:Y258C;ENSP00000377199:Y288C;ENSP00000377198:Y291C	ENSP00000261304:Y314C	Y	-	2	0	GALC	87501694	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.658000	0.83755	2.326000	0.78906	0.533000	0.62120	TAT	.	.		0.423	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2		
MARK3	4140	hgsc.bcm.edu	37	14	103969371	103969371	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr14:103969371A>G	ENST00000429436.2	+	18	2579	c.2069A>G	c.(2068-2070)tAt>tGt	p.Y690C	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.Y689C|MARK3_ENST00000440884.3_Missense_Mutation_p.Y596C|MARK3_ENST00000553942.1_Missense_Mutation_p.Y681C|MARK3_ENST00000335102.5_Missense_Mutation_p.Y713C|MARK3_ENST00000303622.9_Missense_Mutation_p.Y666C|MARK3_ENST00000216288.7_Missense_Mutation_p.Y650C	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	690						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AACTGCGACTATGAGCAGAGG	0.552																																					p.Y690C		Atlas-SNP	.											.	MARK3	86	.	0			c.A2069G						.						71.0	72.0	72.0					14																	103969371		2059	4215	6274	SO:0001583	missense	4140	exon18			GCGACTATGAGCA	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2069A>G	chr14.hg19:g.103969371A>G	ENSP00000411397:p.Tyr690Cys	113.0	0.0		138.0	45.0	NM_001128918	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	hg19	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.78|15.78	2.934998|2.934998	0.52866|0.52866	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	.|T;T;T;T;T;T;T;T	.|0.60299	.|0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	6.17|6.17	5.03|5.03	0.67393|0.67393	.|Kinase-associated KA1 (2);	.|0.104403	.|0.64402	.|D	.|0.000002	T|T	0.73345|0.73345	0.3575|0.3575	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	.|B;D;P;D;B;B;P;B;B	.|0.89917	.|0.377;1.0;0.519;0.996;0.077;0.097;0.948;0.175;0.377	.|B;D;B;P;B;B;B;B;B	.|0.91635	.|0.289;0.999;0.432;0.9;0.099;0.317;0.41;0.16;0.289	T|T	0.73920|0.73920	-0.3830|-0.3830	5|10	.|0.48119	.|T	.|0.1	.|.	12.4531|12.4531	0.55688|0.55688	0.935:0.0:0.065:0.0|0.935:0.0:0.065:0.0	.|.	.|697;268;689;399;650;690;596;681;666	.|P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;.;.;MARK3_HUMAN;.;.;.	V|C	442|713;382;596;689;690;666;650;681;268	.|ENSP00000335347:Y713C;ENSP00000402104:Y596C;ENSP00000408092:Y689C;ENSP00000411397:Y690C;ENSP00000303698:Y666C;ENSP00000216288:Y650C;ENSP00000450772:Y681C;ENSP00000451623:Y268C	.|ENSP00000216288:Y681C	M|Y	+|+	1|2	0|0	MARK3|MARK3	103039124|103039124	1.000000|1.000000	0.71417|0.71417	0.783000|0.783000	0.31826|0.31826	0.574000|0.574000	0.36063|0.36063	9.220000|9.220000	0.95180|0.95180	1.147000|1.147000	0.42369|0.42369	-0.290000|-0.290000	0.09829|0.09829	ATG|TAT	.	.		0.552	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	
MAGEL2	54551	hgsc.bcm.edu	37	15	23889515	23889515	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr15:23889515G>T	ENST00000532292.1	-	1	1660	c.1566C>A	c.(1564-1566)aaC>aaA	p.N522K		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	405					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCCTGACACAGTTGCCTTTCA	0.463																																					p.N1125K		Atlas-SNP	.											.	MAGEL2	108	.	0			c.C3375A						.						70.0	66.0	67.0					15																	23889515		1898	4123	6021	SO:0001583	missense	54551	exon1			GACACAGTTGCCT	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1566C>A	chr15.hg19:g.23889515G>T	ENSP00000433433:p.Asn522Lys	79.0	0.0		139.0	37.0	NM_019066		Missense_Mutation	SNP	ENST00000532292.1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.67	1.414862	0.25465	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.57	-1.54	0.08584	.	.	.	.	.	T	0.59676	0.2211	M	0.86573	2.825	0.09310	N	1	.	.	.	.	.	.	T	0.57051	-0.7877	5	.	.	.	.	8.8628	0.35267	0.4645:0.0:0.5355:0.0	.	.	.	.	N	554	.	.	T	-	2	0	MAGEL2	21440608	0.035000	0.19736	0.368000	0.25939	0.259000	0.26198	-0.805000	0.04530	-0.156000	0.11079	-0.600000	0.04104	ACT	.	.		0.463	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
MAPKBP1	23005	hgsc.bcm.edu	37	15	42106909	42106909	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr15:42106909A>G	ENST00000456763.2	+	11	1356	c.1160A>G	c.(1159-1161)tAt>tGt	p.Y387C	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.Y381C|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.Y381C|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.Y269C	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	387										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCGGCTCTGTATCATTCTTCC	0.512																																					p.Y387C		Atlas-SNP	.											.	MAPKBP1	120	.	0			c.A1160G						.						252.0	225.0	234.0					15																	42106909		2203	4300	6503	SO:0001583	missense	23005	exon11			CTCTGTATCATTC	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1160A>G	chr15.hg19:g.42106909A>G	ENSP00000393099:p.Tyr387Cys	113.0	0.0		165.0	24.0	NM_001128608	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	hg19	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	27.8	4.863431	0.91511	.	.	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.54675	5.04;0.56;5.03;5.03	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.994;0.997;0.992	T	0.76143	-0.3067	10	0.49607	T	0.09	-11.8615	16.6165	0.84917	1.0:0.0:0.0:0.0	.	269;381;387;381	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	C	381;269;387;381	ENSP00000397570:Y381C;ENSP00000260357:Y269C;ENSP00000393099:Y387C;ENSP00000426154:Y381C	ENSP00000260357:Y269C	Y	+	2	0	MAPKBP1	39894201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.501000	0.81600	2.323000	0.78572	0.529000	0.55759	TAT	.	.		0.512	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
USP8	9101	hgsc.bcm.edu	37	15	50757317	50757317	+	Silent	SNP	A	A	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr15:50757317A>T	ENST00000396444.3	+	7	953	c.615A>T	c.(613-615)cgA>cgT	p.R205R	USP8_ENST00000425032.3_Silent_p.R128R|USP8_ENST00000307179.4_Silent_p.R205R|USP8_ENST00000433963.1_Silent_p.R205R|RNA5SP395_ENST00000516567.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	205	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGGATGCTCGAAGAATGCAGG	0.393																																					p.R205R		Atlas-SNP	.											.	USP8	90	.	0			c.A615T						.						116.0	93.0	101.0					15																	50757317		2196	4294	6490	SO:0001819	synonymous_variant	9101	exon7			TGCTCGAAGAATG	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.615A>T	chr15.hg19:g.50757317A>T		151.0	0.0		199.0	17.0	NM_001128610	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	hg19	CCDS10137.1																																																																																			.	.		0.393	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
TRPM7	54822	hgsc.bcm.edu	37	15	50901794	50901794	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr15:50901794T>A	ENST00000313478.7	-	19	2845	c.2564A>T	c.(2563-2565)aAa>aTa	p.K855I	TRPM7_ENST00000560955.1_Missense_Mutation_p.K855I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	855					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAACCAGAATTTTACAATTGG	0.333																																					p.K855I		Atlas-SNP	.											.	TRPM7	145	.	0			c.A2564T						.						161.0	147.0	152.0					15																	50901794		1825	4070	5895	SO:0001583	missense	54822	exon19			CAGAATTTTACAA	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2564A>T	chr15.hg19:g.50901794T>A	ENSP00000320239:p.Lys855Ile	228.0	0.0		337.0	89.0	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	hg19	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716401	0.89205	.	.	ENSG00000092439	ENST00000313478	T	0.80653	-1.4	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.87819	0.6273	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89060	0.3462	10	0.87932	D	0	-22.1064	15.4966	0.75658	0.0:0.0:0.0:1.0	.	855	Q96QT4	TRPM7_HUMAN	I	855	ENSP00000320239:K855I	ENSP00000320239:K855I	K	-	2	0	TRPM7	48689086	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.073000	0.62155	0.383000	0.25322	AAA	.	.		0.333	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
SNUPN	10073	hgsc.bcm.edu	37	15	75890985	75890985	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr15:75890985T>C	ENST00000564644.1	-	10	1375	c.797A>G	c.(796-798)tAc>tGc	p.Y266C	CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Missense_Mutation_p.Y266C|SNUPN_ENST00000564675.1_Missense_Mutation_p.Y266C|SNUPN_ENST00000371091.5_Missense_Mutation_p.Y308C|SNUPN_ENST00000308588.5_Missense_Mutation_p.Y266C			O95149	SPN1_HUMAN	snurportin 1	266	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TCCGGGGCTGTAGTGGGTCTG	0.562																																					p.Y266C		Atlas-SNP	.											.	SNUPN	26	.	0			c.A797G						.						97.0	110.0	106.0					15																	75890985		2197	4292	6489	SO:0001583	missense	10073	exon9			GGGCTGTAGTGGG	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.797A>G	chr15.hg19:g.75890985T>C	ENSP00000454852:p.Tyr266Cys	68.0	0.0		70.0	15.0	NM_001042581	A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	hg19	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567615	0.86439	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	D;D	0.89746	-2.56;-2.56	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.94905	0.8353	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95502	0.8578	10	0.87932	D	0	-21.612	15.5478	0.76123	0.0:0.0:0.0:1.0	.	308;266	C9K0X5;O95149	.;SPN1_HUMAN	C	266;308	ENSP00000309831:Y266C;ENSP00000360132:Y308C	ENSP00000309831:Y266C	Y	-	2	0	SNUPN	73678040	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	7.501000	0.81600	2.268000	0.75426	0.454000	0.30748	TAC	.	.		0.562	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701	
NTRK3	4916	hgsc.bcm.edu	37	15	88678352	88678352	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr15:88678352A>T	ENST00000360948.2	-	9	1345	c.1184T>A	c.(1183-1185)tTc>tAc	p.F395Y	NTRK3_ENST00000355254.2_Missense_Mutation_p.F395Y|NTRK3_ENST00000394480.2_Missense_Mutation_p.F395Y|NTRK3_ENST00000317501.3_Missense_Mutation_p.F395Y|NTRK3_ENST00000357724.2_Missense_Mutation_p.F395Y|NTRK3_ENST00000558676.1_Missense_Mutation_p.F395Y|NTRK3_ENST00000557856.1_Missense_Mutation_p.F395Y|NTRK3_ENST00000542733.2_Missense_Mutation_p.F297Y|NTRK3_ENST00000540489.2_Missense_Mutation_p.F395Y	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	395					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCCTTGAGGAAGTGGCCATT	0.532			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.F395Y		Atlas-SNP	.		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	NTRK3	587	.	0			c.T1184A						.						208.0	190.0	196.0					15																	88678352		2201	4299	6500	SO:0001583	missense	4916	exon10			TTGAGGAAGTGGC	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1184T>A	chr15.hg19:g.88678352A>T	ENSP00000354207:p.Phe395Tyr	146.0	0.0		159.0	42.0	NM_001243101	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	hg19	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960831	0.92791	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.75260	-0.92;-0.87;-0.88;-0.92;-0.8;-0.13;-0.13	5.28	5.28	0.74379	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	M	0.65677	2.01	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.999;0.994;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.91635	0.993;0.965;0.999;0.995;0.986;0.998	D	0.86353	0.1712	10	0.87932	D	0	.	14.4111	0.67115	1.0:0.0:0.0:0.0	.	297;395;395;395;395;395	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	Y	395;395;395;395;297;395;395	ENSP00000377990:F395Y;ENSP00000354207:F395Y;ENSP00000350356:F395Y;ENSP00000347397:F395Y;ENSP00000437773:F297Y;ENSP00000444673:F395Y;ENSP00000318328:F395Y	ENSP00000318328:F395Y	F	-	2	0	NTRK3	86479356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.907000	0.92634	1.997000	0.58415	0.460000	0.39030	TTC	.	.		0.532	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
RCCD1	91433	hgsc.bcm.edu	37	15	91500546	91500546	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr15:91500546G>C	ENST00000394258.2	+	3	572	c.370G>C	c.(370-372)Gat>Cat	p.D124H	RCCD1_ENST00000555155.1_Missense_Mutation_p.D124H|RCCD1_ENST00000556774.1_Intron|AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000556618.1_Missense_Mutation_p.D124H	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	124						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			AGGGGAAGACGATCCGGCCGG	0.726																																					p.D124H		Atlas-SNP	.											.	RCCD1	9	.	0			c.G370C						.						10.0	10.0	10.0					15																	91500546		2007	3968	5975	SO:0001583	missense	91433	exon3			GAAGACGATCCGG		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.370G>C	chr15.hg19:g.91500546G>C	ENSP00000377801:p.Asp124His	79.0	0.0		63.0	21.0	NM_001017919	B2RTP9|Q29RX6	Missense_Mutation	SNP	ENST00000394258.2	hg19	CCDS32333.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260445	0.23051	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618	T;T;T	0.38401	1.14;1.14;1.14	3.54	1.57	0.23409	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	3.285740	0.01446	N	0.015310	T	0.22044	0.0531	N	0.08118	0	0.09310	N	1	P;P	0.44816	0.844;0.759	B;B	0.39805	0.31;0.164	T	0.18618	-1.0331	10	0.56958	D	0.05	.	6.0224	0.19636	0.1106:0.1926:0.6968:0.0	.	124;124	G3V2I3;A6NED2	.;RCCD1_HUMAN	H	124	ENSP00000377801:D124H;ENSP00000450678:D124H;ENSP00000451963:D124H	ENSP00000377801:D124H	D	+	1	0	RCCD1	89301550	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	0.665000	0.25083	0.294000	0.22547	-0.266000	0.10368	GAT	.	.		0.726	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544	
AXIN1	8312	hgsc.bcm.edu	37	16	396667	396667	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr16:396667G>T	ENST00000262320.3	-	2	730	c.359C>A	c.(358-360)gCc>gAc	p.A120D	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.A120D	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	120	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCAGTGCAGGCAAACCAGAA	0.532											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.A120D		Atlas-SNP	.											.	AXIN1	290	.	0			c.C359A						.						56.0	53.0	54.0					16																	396667		2203	4300	6503	SO:0001583	missense	8312	exon2			GTGCAGGCAAACC	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.359C>A	chr16.hg19:g.396667G>T	ENSP00000262320:p.Ala120Asp	62.0	0.0	588	37.0	15.0	NM_181050	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	hg19	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889594	0.72524	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.02015	4.5;4.5	5.75	5.75	0.90469	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.17289	-1.0374	10	0.87932	D	0	-22.6722	19.9396	0.97154	0.0:0.0:1.0:0.0	.	120;120	O15169-2;O15169	.;AXIN1_HUMAN	D	120	ENSP00000262320:A120D;ENSP00000346935:A120D	ENSP00000262320:A120D	A	-	2	0	AXIN1	336668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.892000	0.87324	2.720000	0.93068	0.655000	0.94253	GCC	.	.		0.532	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
TNRC6A	27327	hgsc.bcm.edu	37	16	24818081	24818081	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr16:24818081A>G	ENST00000395799.3	+	17	4645	c.4516A>G	c.(4516-4518)Aat>Gat	p.N1506D	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_5'Flank|TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1457D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1506					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATCACCAATAAATGCTTTCAG	0.502																																					p.N1506D		Atlas-SNP	.											.	TNRC6A	171	.	0			c.A4516G						.						137.0	117.0	123.0					16																	24818081		2197	4300	6497	SO:0001583	missense	27327	exon17			CCAATAAATGCTT	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4516A>G	chr16.hg19:g.24818081A>G	ENSP00000379144:p.Asn1506Asp	139.0	0.0		129.0	35.0	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	hg19	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.96|15.96	2.985928|2.985928	0.53934|0.53934	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|T;T	.|0.12984	.|2.67;2.63	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.166777	.|0.56097	.|D	.|0.000029	T|T	0.16257|0.16257	0.0391|0.0391	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B;B;B;P	.|0.39782	.|0.277;0.227;0.13;0.688	.|B;B;B;B	.|0.33750	.|0.049;0.138;0.055;0.169	T|T	0.01444|0.01444	-1.1353|-1.1353	5|10	.|0.39692	.|T	.|0.17	-5.2564|-5.2564	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|173;645;1457;1506	.|B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.|.;.;.;TNR6A_HUMAN	R|D	396|1457;1506	.|ENSP00000326900:N1457D;ENSP00000379144:N1506D	.|ENSP00000326900:N1457D	K|N	+|+	2|1	0|0	TNRC6A|TNRC6A	24725582|24725582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.647000|5.647000	0.67923|0.67923	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAA|AAT	.	.		0.502	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
C16orf82	162083	hgsc.bcm.edu	37	16	27078365	27078365	+	lincRNA	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr16:27078365G>A	ENST00000505035.1	+	0	338				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		GGGAGAAAAAGGGGAATCCTC	0.592																																					p.G17R		Atlas-SNP	.											.	.	.	.	0			c.G49A						.						29.0	33.0	32.0					16																	27078365		1929	4135	6064			162083	exon1			GAAAAAGGGGAAT	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		chr16.hg19:g.27078365G>A		77.0	0.0		87.0	30.0	NM_001145545	B9EGC2|Q8NEF0	Missense_Mutation	SNP	ENST00000505035.1	hg19																																																																																				.	.		0.592	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545	
ZNF668	79759	hgsc.bcm.edu	37	16	31072498	31072498	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr16:31072498G>C	ENST00000538906.1	-	3	2535	c.1751C>G	c.(1750-1752)gCc>gGc	p.A584G	ZNF668_ENST00000535577.1_Missense_Mutation_p.A584G|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607G|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584G|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607G|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584G|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637																																					p.A607G	Colon(181;1111 1980 5060 10512 25785)	Atlas-SNP	.											.	ZNF668	121	.	0			c.C1820G						.						62.0	64.0	64.0					16																	31072498		2197	4300	6497	SO:0001583	missense	79759	exon4			TCGCTGGCACTCA		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1751C>G	chr16.hg19:g.31072498G>C	ENSP00000440149:p.Ala584Gly	100.0	0.0		95.0	21.0	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	hg19	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023194	0.54683	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.25754	0.0627	N	0.14661	0.345	0.46954	D	0.999264	D	0.56968	0.978	P	0.50617	0.646	T	0.01621	-1.1310	10	0.28530	T	0.3	-22.282	12.8872	0.58051	0.0:0.164:0.836:0.0	.	584	Q96K58	ZN668_HUMAN	G	607;584;584;584;584	ENSP00000442573:A607G;ENSP00000441349:A584G;ENSP00000440149:A584G;ENSP00000378434:A584G;ENSP00000300849:A584G	ENSP00000300849:A584G	A	-	2	0	ZNF668	30979999	0.877000	0.30153	1.000000	0.80357	0.985000	0.73830	3.882000	0.56160	2.581000	0.87130	0.561000	0.74099	GCC	.	.		0.637	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
GPT2	84706	hgsc.bcm.edu	37	16	46960942	46960942	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr16:46960942C>T	ENST00000340124.4	+	11	1586	c.1474C>T	c.(1474-1476)Cac>Tac	p.H492Y	GPT2_ENST00000440783.2_Missense_Mutation_p.H392Y	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	492					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.H492N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	AGGCACTTACCACTTCAGGTA	0.542																																					p.H492Y		Atlas-SNP	.											GPT2,colon,carcinoma,0,1	GPT2	40	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1474T						.						100.0	88.0	92.0					16																	46960942		2203	4300	6503	SO:0001583	missense	84706	exon11			ACTTACCACTTCA		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1474C>T	chr16.hg19:g.46960942C>T	ENSP00000345282:p.His492Tyr	54.0	0.0		76.0	18.0	NM_133443	Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	hg19	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059648	0.93846	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;T	0.90444	-2.67;2.06	4.94	4.94	0.65067	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97619	1.0134	10	0.72032	D	0.01	.	18.5083	0.90905	0.0:1.0:0.0:0.0	.	392;492	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	Y	492;392	ENSP00000345282:H492Y;ENSP00000413804:H392Y	ENSP00000345282:H492Y	H	+	1	0	GPT2	45518443	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.759000	0.85235	2.456000	0.83038	0.655000	0.94253	CAC	.	.		0.542	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2		
CHD9	80205	hgsc.bcm.edu	37	16	53265378	53265378	+	Silent	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr16:53265378A>G	ENST00000398510.3	+	8	2421	c.2334A>G	c.(2332-2334)gtA>gtG	p.V778V	CHD9_ENST00000564845.1_Silent_p.V778V|CHD9_ENST00000566029.1_Silent_p.V778V|CHD9_ENST00000447540.1_Silent_p.V778V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	778	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAGACAGAGTATTAGAAGTCT	0.299																																					p.V778V		Atlas-SNP	.											CHD9,NS,carcinoma,0,1	CHD9	203	.	0			c.A2334G						.						70.0	70.0	70.0					16																	53265378		1794	4066	5860	SO:0001819	synonymous_variant	80205	exon9			CAGAGTATTAGAA	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2334A>G	chr16.hg19:g.53265378A>G		257.0	0.0		300.0	98.0	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	hg19																																																																																				.	.		0.299	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
SLC38A8	146167	hgsc.bcm.edu	37	16	84075664	84075664	+	Silent	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr16:84075664G>A	ENST00000299709.3	-	1	98	c.99C>T	c.(97-99)ctC>ctT	p.L33L	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	33					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGGACTTCATGAGGATGAAGA	0.642																																					p.L33L		Atlas-SNP	.											.	SLC38A8	60	.	0			c.C99T						.						92.0	102.0	99.0					16																	84075664		2200	4300	6500	SO:0001819	synonymous_variant	146167	exon1			CTTCATGAGGATG		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.99C>T	chr16.hg19:g.84075664G>A		60.0	0.0		53.0	6.0	NM_001080442		Silent	SNP	ENST00000299709.3	hg19	CCDS32495.1																																																																																			.	.		0.642	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442	
ZCCHC14	23174	hgsc.bcm.edu	37	16	87445967	87445967	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr16:87445967G>A	ENST00000268616.4	-	12	2166	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	650							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CCCAGAAATGGCAGAATCAGC	0.562																																					p.A650V		Atlas-SNP	.											.	ZCCHC14	87	.	0			c.C1949T						.						98.0	112.0	107.0					16																	87445967		2198	4300	6498	SO:0001583	missense	23174	exon12			GAAATGGCAGAAT	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1949C>T	chr16.hg19:g.87445967G>A	ENSP00000268616:p.Ala650Val	105.0	0.0		89.0	21.0	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	hg19	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	6.699	0.497709	0.12762	.	.	ENSG00000140948	ENST00000268616	T	0.21543	2.0	5.83	4.88	0.63580	.	0.142961	0.47093	N	0.000254	T	0.15219	0.0367	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.31318	0.319;0.087	B;B	0.23419	0.046;0.02	T	0.12656	-1.0539	10	0.38643	T	0.18	-21.7537	13.1254	0.59351	0.0738:0.0:0.9262:0.0	.	650;650	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	V	650	ENSP00000268616:A650V	ENSP00000268616:A650V	A	-	2	0	ZCCHC14	86003468	0.970000	0.33590	0.052000	0.19188	0.096000	0.18686	4.847000	0.62867	1.464000	0.47987	0.563000	0.77884	GCC	.	.		0.562	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
TP53	7157	hgsc.bcm.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:7578265A>C	ENST00000269305.4	-	6	773	c.584T>G	c.(583-585)aTc>aGc	p.I195S	TP53_ENST00000359597.4_Missense_Mutation_p.I195S|TP53_ENST00000413465.2_Missense_Mutation_p.I195S|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195S|TP53_ENST00000455263.2_Missense_Mutation_p.I195S|TP53_ENST00000420246.2_Missense_Mutation_p.I195S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|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 import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.I195S	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,NS,carcinoma,0,5	TP53	33396	.	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	c.T584G						.						100.0	89.0	93.0					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	exon6	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ACTCGGATAAGAT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>G	chr17.hg19:g.7578265A>C	ENSP00000269305:p.Ile195Ser	144.0	0.0		118.0	59.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439821	0.43326	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99743	0.9898	M	0.85099	2.735	0.54753	D	0.999986	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.979;0.991;0.996;0.997;0.996	D	0.98579	1.0649	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195S;ENSP00000352610:I195S;ENSP00000269305:I195S;ENSP00000398846:I195S;ENSP00000391127:I195S;ENSP00000391478:I195S;ENSP00000425104:I63S;ENSP00000423862:I102S	ENSP00000269305:I195S	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC	.	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ALOX12B	242	hgsc.bcm.edu	37	17	7984083	7984083	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:7984083A>C	ENST00000319144.4	-	5	803	c.543T>G	c.(541-543)atT>atG	p.I181M	AC129492.6_ENST00000399413.3_3'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	181	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGAATCCCGGAATATAGCCAT	0.597										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I181M		Atlas-SNP	.											.	ALOX12B	61	.	0			c.T543G						.						101.0	109.0	106.0					17																	7984083		2203	4300	6503	SO:0001583	missense	242	exon5			TCCCGGAATATAG	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.543T>G	chr17.hg19:g.7984083A>C	ENSP00000315167:p.Ile181Met	64.0	0.0	645	62.0	32.0	NM_001139		Missense_Mutation	SNP	ENST00000319144.4	hg19	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720914	0.30503	.	.	ENSG00000179477	ENST00000319144	D	0.90133	-2.62	4.34	0.926	0.19430	Lipoxygenase, C-terminal (2);	0.437153	0.25208	N	0.032339	D	0.83064	0.5173	L	0.44542	1.39	0.19575	N	0.999968	B	0.32010	0.351	B	0.33042	0.157	T	0.71269	-0.4643	10	0.37606	T	0.19	-10.3684	3.866	0.09016	0.3923:0.1977:0.41:0.0	.	181	O75342	LX12B_HUMAN	M	181	ENSP00000315167:I181M	ENSP00000315167:I181M	I	-	3	3	ALOX12B	7924808	0.292000	0.24362	0.965000	0.40720	0.902000	0.53008	0.007000	0.13174	0.071000	0.16664	0.454000	0.30748	ATT	.	.		0.597	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
DNAH9	1770	hgsc.bcm.edu	37	17	11778398	11778398	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:11778398T>A	ENST00000262442.4	+	53	10443	c.10375T>A	c.(10375-10377)Tgt>Agt	p.C3459S	RP11-628O18.1_ENST00000579621.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.C3459S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3459	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCATCAACTGTGAGCGCTG	0.542																																					p.C3459S		Atlas-SNP	.											.	DNAH9	695	.	0			c.T10375A						.						94.0	83.0	87.0					17																	11778398		2203	4300	6503	SO:0001583	missense	1770	exon53			ATCAACTGTGAGC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10375T>A	chr17.hg19:g.11778398T>A	ENSP00000262442:p.Cys3459Ser	83.0	0.0		53.0	23.0	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.973915	0.53720	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44083	0.93;0.93	4.66	3.52	0.40303	.	0.172266	0.52532	D	0.000072	T	0.15782	0.0380	N	0.02379	-0.575	0.80722	D	1	B	0.16396	0.017	B	0.19148	0.024	T	0.11717	-1.0576	10	0.07325	T	0.83	.	10.7101	0.45977	0.1422:0.0:0.0:0.8578	.	3459	Q9NYC9	DYH9_HUMAN	S	3459;3459;2041	ENSP00000262442:C3459S;ENSP00000414874:C3459S	ENSP00000262442:C3459S	C	+	1	0	DNAH9	11719123	1.000000	0.71417	0.981000	0.43875	0.945000	0.59286	3.920000	0.56446	1.965000	0.57142	0.533000	0.62120	TGT	.	.		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
SSH2	85464	hgsc.bcm.edu	37	17	27958047	27958047	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:27958047C>T	ENST00000269033.3	-	15	4235	c.4084G>A	c.(4084-4086)Gga>Aga	p.G1362R	SSH2_ENST00000540801.1_Missense_Mutation_p.G1389R|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1362					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATTCAAGTCCTGCCCTGGGG	0.557																																					p.G1362R		Atlas-SNP	.											.	SSH2	107	.	0			c.G4084A						.						94.0	83.0	87.0					17																	27958047		2203	4300	6503	SO:0001583	missense	85464	exon15			CAAGTCCTGCCCT	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.4084G>A	chr17.hg19:g.27958047C>T	ENSP00000269033:p.Gly1362Arg	83.0	0.0		112.0	41.0	NM_033389	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	hg19	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232523	0.39498	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.08720	3.06;3.06	6.17	5.2	0.72013	.	0.731959	0.13508	N	0.382719	T	0.08758	0.0217	L	0.38531	1.155	0.80722	D	1	B;B	0.12630	0.006;0.004	B;B	0.13407	0.009;0.004	T	0.20405	-1.0276	10	0.16420	T	0.52	-5.1077	14.6875	0.69059	0.0:0.9302:0.0:0.0698	.	1389;1362	F5H527;Q76I76	.;SSH2_HUMAN	R	1362;1389	ENSP00000269033:G1362R;ENSP00000444743:G1389R	ENSP00000269033:G1362R	G	-	1	0	SSH2	24982173	0.098000	0.21812	0.919000	0.36401	0.962000	0.63368	2.589000	0.46145	1.598000	0.50083	0.655000	0.94253	GGA	.	.		0.557	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389	
SLFN11	91607	hgsc.bcm.edu	37	17	33679955	33679955	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:33679955T>C	ENST00000394566.1	-	7	2398	c.2126A>G	c.(2125-2127)cAc>cGc	p.H709R	SLFN11_ENST00000308377.4_Missense_Mutation_p.H709R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	709					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAATCCAAGTGGCTGGTCTG	0.488																																					p.H709R		Atlas-SNP	.											.	SLFN11	112	.	0			c.A2126G						.						115.0	120.0	118.0					17																	33679955		2203	4300	6503	SO:0001583	missense	91607	exon5			TCCAAGTGGCTGG	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2126A>G	chr17.hg19:g.33679955T>C	ENSP00000378067:p.His709Arg	96.0	0.0		107.0	34.0	NM_152270	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	hg19	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	t	17.15	3.315021	0.60524	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.86497	-2.13;-2.13	4.0	4.0	0.46444	.	0.000000	0.50627	D	0.000103	D	0.92358	0.7575	M	0.88377	2.95	0.29677	N	0.841994	D	0.59357	0.985	P	0.60415	0.874	D	0.88843	0.3314	10	0.62326	D	0.03	.	9.4902	0.38955	0.0:0.0:0.0:1.0	.	709	Q7Z7L1	SLN11_HUMAN	R	709	ENSP00000312402:H709R;ENSP00000378067:H709R	ENSP00000312402:H709R	H	-	2	0	SLFN11	30704068	1.000000	0.71417	0.936000	0.37596	0.930000	0.56654	4.974000	0.63771	1.799000	0.52666	0.533000	0.62120	CAC	.	.		0.488	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
CCL16	6360	hgsc.bcm.edu	37	17	34304751	34304751	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:34304751T>G	ENST00000293275.3	-	3	289	c.214A>C	c.(214-216)Aac>Cac	p.N72H		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	72					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTTCTCGGTTCCTCTTGGTG	0.567																																					p.N72H		Atlas-SNP	.											.	CCL16	7	.	0			c.A214C						.						168.0	154.0	159.0					17																	34304751		2203	4300	6503	SO:0001583	missense	6360	exon3			CTCGGTTCCTCTT	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"""Chemokine ligands"", ""Endogenous ligands"""	10614	protein-coding gene	gene with protein product		601394	"""small inducible cytokine subfamily A (Cys-Cys), member 16"""	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.214A>C	chr17.hg19:g.34304751T>G	ENSP00000293275:p.Asn72His	125.0	0.0		147.0	67.0	NM_004590	Q4KKU0	Missense_Mutation	SNP	ENST00000293275.3	hg19	CCDS11303.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342817	0.41498	.	.	ENSG00000161573	ENST00000293275	T	0.04119	3.7	5.14	2.78	0.32641	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.846463	0.10107	N	0.715244	T	0.05914	0.0154	L	0.55481	1.735	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	T	0.38265	-0.9669	10	0.66056	D	0.02	.	3.218	0.06705	0.2064:0.1117:0.0:0.682	.	72	O15467	CCL16_HUMAN	H	72	ENSP00000293275:N72H	ENSP00000293275:N72H	N	-	1	0	CCL16	31328864	0.001000	0.12720	0.004000	0.12327	0.737000	0.42083	0.909000	0.28558	0.920000	0.36970	0.379000	0.24179	AAC	.	.		0.567	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	NM_004590	
G6PC	2538	hgsc.bcm.edu	37	17	41059553	41059553	+	Silent	SNP	C	C	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:41059553C>G	ENST00000253801.2	+	3	433	c.354C>G	c.(352-354)ggC>ggG	p.G118G	G6PC_ENST00000585489.1_Silent_p.G118G|G6PC_ENST00000592383.1_Intron	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	118					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCCCCTCTGGCCATGCCATGG	0.507																																					p.G118G		Atlas-SNP	.											.	G6PC	48	.	0			c.C354G						.						58.0	49.0	52.0					17																	41059553		2203	4300	6503	SO:0001819	synonymous_variant	2538	exon3			CTCTGGCCATGCC	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.354C>G	chr17.hg19:g.41059553C>G		67.0	0.0		83.0	31.0	NM_000151	A1L4C0|B4E1C3|K7EL82	Silent	SNP	ENST00000253801.2	hg19	CCDS11446.1																																																																																			.	.		0.507	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151	
FMNL1	752	hgsc.bcm.edu	37	17	43318781	43318781	+	Silent	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:43318781C>A	ENST00000331495.3	+	14	1701	c.1365C>A	c.(1363-1365)ccC>ccA	p.P455P	FMNL1_ENST00000587489.1_Silent_p.P33P|CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Silent_p.P455P	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	455	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.			P -> A (in Ref. 1; AAP32476, 3; AAL99920 and 4; AAH73988). {ECO:0000305}.	actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCATGGGGCCCTCCAGGCGTC	0.672																																					p.P455P	GBM(164;1247 1997 8702 11086 51972)	Atlas-SNP	.											.	FMNL1	78	.	0			c.C1365A						.						7.0	6.0	6.0					17																	43318781		2121	4180	6301	SO:0001819	synonymous_variant	752	exon14			GGGGCCCTCCAGG	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1365C>A	chr17.hg19:g.43318781C>A		58.0	0.0		89.0	29.0	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	hg19	CCDS11497.1																																																																																			.	.		0.672	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
TRIM37	4591	hgsc.bcm.edu	37	17	57089748	57089748	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:57089748G>T	ENST00000262294.7	-	22	2895	c.2636C>A	c.(2635-2637)tCt>tAt	p.S879Y	TRIM37_ENST00000393066.3_Missense_Mutation_p.S879Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.S845Y|TRIM37_ENST00000376149.3_Missense_Mutation_p.S757Y	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	879					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCAGTTTCAGAATTATTTTC	0.393									Mulibrey Nanism																												p.S879Y		Atlas-SNP	.											.	TRIM37	105	.	0			c.C2636A						.						91.0	89.0	89.0					17																	57089748		2203	4300	6503	SO:0001583	missense	4591	exon22	Familial Cancer Database	Perheentupa syndrome	GTTTCAGAATTAT	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2636C>A	chr17.hg19:g.57089748G>T	ENSP00000262294:p.Ser879Tyr	42.0	0.0		42.0	14.0	NM_015294	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	hg19	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898786	0.33535	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.66280	1.57;1.57;-0.2;1.18	6.07	5.11	0.69529	.	0.295020	0.35708	N	0.003031	T	0.51295	0.1666	N	0.24115	0.695	0.36434	D	0.865063	P;P;P	0.40107	0.573;0.703;0.664	B;B;B	0.42798	0.165;0.398;0.125	T	0.63310	-0.6666	10	0.72032	D	0.01	-5.6968	10.1512	0.42794	0.0689:0.0:0.7961:0.135	.	845;757;879	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	Y	879;879;757;845	ENSP00000376785:S879Y;ENSP00000262294:S879Y;ENSP00000365319:S757Y;ENSP00000376784:S845Y	ENSP00000262294:S879Y	S	-	2	0	TRIM37	54444530	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.772000	0.47678	1.578000	0.49821	0.655000	0.94253	TCT	.	.		0.393	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
TANC2	26115	hgsc.bcm.edu	37	17	61476200	61476200	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:61476200G>C	ENST00000424789.2	+	17	3038	c.3034G>C	c.(3034-3036)Gat>Cat	p.D1012H	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.D1012H|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1012					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTACCTACTTGATCTTCCAGA	0.463																																					p.D1012H		Atlas-SNP	.											.	TANC2	266	.	0			c.G3034C						.						103.0	100.0	101.0					17																	61476200		1935	4145	6080	SO:0001583	missense	26115	exon17			CTACTTGATCTTC	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3034G>C	chr17.hg19:g.61476200G>C	ENSP00000387593:p.Asp1012His	115.0	0.0		134.0	59.0	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	hg19	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700073	0.88924	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.65916	-0.18;-0.18	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.046228	0.85682	D	0.000000	T	0.78168	0.4241	M	0.65677	2.01	0.58432	D	0.999999	D;P	0.63880	0.993;0.953	D;P	0.63877	0.919;0.863	T	0.78388	-0.2223	10	0.72032	D	0.01	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	1012;1012	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	1012	ENSP00000374171:D1012H;ENSP00000387593:D1012H	ENSP00000374171:D1012H	D	+	1	0	TANC2	58829932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.892000	0.87324	2.813000	0.96785	0.561000	0.74099	GAT	.	.		0.463	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
BPTF	2186	hgsc.bcm.edu	37	17	65871691	65871691	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:65871691T>G	ENST00000321892.4	+	5	1945	c.1884T>G	c.(1882-1884)gaT>gaG	p.D628E	BPTF_ENST00000306378.6_Intron|BPTF_ENST00000424123.3_Missense_Mutation_p.D489E|BPTF_ENST00000335221.5_Missense_Mutation_p.D628E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	628					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTTGGGGATAAAGGTAACT	0.438																																					p.D628E		Atlas-SNP	.											.	BPTF	415	.	0			c.T1884G						.						97.0	94.0	95.0					17																	65871691		2203	4300	6503	SO:0001583	missense	2186	exon5			TGGGGATAAAGGT	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1884T>G	chr17.hg19:g.65871691T>G	ENSP00000315454:p.Asp628Glu	63.0	0.0		92.0	44.0	NM_004459	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	hg19		.	.	.	.	.	.	.	.	.	.	T	13.26	2.183632	0.38609	.	.	ENSG00000171634	ENST00000544491;ENST00000335221;ENST00000321892;ENST00000544778	T;T	0.64085	-0.08;-0.06	5.47	3.25	0.37280	.	.	.	.	.	T	0.65512	0.2698	L	0.36672	1.1	0.33766	D	0.622484	D;D	0.64830	0.994;0.994	D;P	0.72625	0.978;0.876	T	0.66732	-0.5849	9	0.23302	T	0.38	.	8.7076	0.34365	0.0:0.1497:0.0:0.8503	.	628;628	Q12830;Q12830-4	BPTF_HUMAN;.	E	533;628;628;489	ENSP00000334351:D628E;ENSP00000315454:D628E	ENSP00000315454:D628E	D	+	3	2	BPTF	63302153	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.580000	0.53907	0.461000	0.27071	-0.456000	0.05471	GAT	.	.		0.438	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
LGALS3BP	3959	hgsc.bcm.edu	37	17	76968304	76968304	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:76968304G>A	ENST00000262776.3	-	6	1420	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	371					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTGGAACAGGGCCTCGTGGCT	0.582											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A371V	GBM(89;1105 1755 18102 21513)	Atlas-SNP	.											.	LGALS3BP	47	.	0			c.C1112T						.						64.0	67.0	66.0					17																	76968304		2203	4300	6503	SO:0001583	missense	3959	exon6			AACAGGGCCTCGT	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1112C>T	chr17.hg19:g.76968304G>A	ENSP00000262776:p.Ala371Val	73.0	0.0	1172	104.0	25.0	NM_005567	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	hg19	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640612	0.29157	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01438	4.89	3.41	1.39	0.22231	.	0.000000	0.38959	N	0.001505	T	0.01870	0.0059	M	0.62723	1.935	0.09310	N	0.999997	B	0.28636	0.218	B	0.28638	0.092	T	0.40627	-0.9553	10	0.49607	T	0.09	-30.3837	5.5361	0.17011	0.2597:0.0:0.7403:0.0	.	371	Q08380	LG3BP_HUMAN	V	371;359	ENSP00000262776:A371V	ENSP00000262776:A371V	A	-	2	0	LGALS3BP	74479899	0.000000	0.05858	0.082000	0.20525	0.353000	0.29299	0.600000	0.24104	0.445000	0.26639	0.561000	0.74099	GCC	.	.		0.582	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567	
SGSH	6448	hgsc.bcm.edu	37	17	78184755	78184755	+	Silent	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:78184755G>T	ENST00000326317.6	-	8	1091	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000534910.1_Silent_p.I132I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	335					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGAGCCAAAGATGGCGTAGC	0.652																																					p.I335I		Atlas-SNP	.											.	SGSH	27	.	0			c.C1005A						.						72.0	55.0	61.0					17																	78184755		2203	4300	6503	SO:0001819	synonymous_variant	6448	exon8			GCCAAAGATGGCG	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1005C>A	chr17.hg19:g.78184755G>T		890.0	0.0		1031.0	278.0	NM_000199	A8K5E2	Silent	SNP	ENST00000326317.6	hg19	CCDS11770.1																																																																																			.	.		0.652	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199	
LPIN2	9663	hgsc.bcm.edu	37	18	2926805	2926805	+	Splice_Site	SNP	T	T	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr18:2926805T>A	ENST00000261596.4	-	13	1949		c.e13-2			NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTCTGGCAGCTGTAACAGCAA	0.532																																					.		Atlas-SNP	.											.	LPIN2	75	.	0			c.1711-2A>T						.						61.0	56.0	57.0					18																	2926805		2203	4300	6503	SO:0001630	splice_region_variant	9663	exon14			GGCAGCTGTAACA	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1711-2A>T	chr18.hg19:g.2926805T>A		28.0	0.0		33.0	8.0	NM_014646	A7MD25|D3DUH3	Splice_Site	SNP	ENST00000261596.4	hg19	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192696	0.38707	.	.	ENSG00000101577	ENST00000261596	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1441	0.42753	0.0:0.075:0.0:0.925	.	.	.	.	.	-1	.	.	.	-	.	.	LPIN2	2916805	1.000000	0.71417	0.982000	0.44146	0.796000	0.44982	3.250000	0.51445	2.185000	0.69588	0.460000	0.39030	.	.	.		0.532	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646	Intron
PIEZO2	63895	hgsc.bcm.edu	37	18	10691266	10691266	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr18:10691266G>A	ENST00000503781.3	-	44	6966	c.6967C>T	c.(6967-6969)Ctc>Ttc	p.L2323F	PIEZO2_ENST00000285141.4_Missense_Mutation_p.L178F|PIEZO2_ENST00000538948.1_Missense_Mutation_p.L280F|PIEZO2_ENST00000580640.1_Missense_Mutation_p.L2348F|PIEZO2_ENST00000302079.6_Missense_Mutation_p.L2323F	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2323					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CTCTTGGTGAGGAAGTTCCCC	0.507																																					p.L2323F		Atlas-SNP	.											.	.	.	.	0			c.C6967T						.						124.0	108.0	113.0					18																	10691266		2203	4300	6503	SO:0001583	missense	63895	exon44			TGGTGAGGAAGTT	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6967C>T	chr18.hg19:g.10691266G>A	ENSP00000421377:p.Leu2323Phe	115.0	0.0		160.0	59.0	NM_022068	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.304284	0.95601	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.79749	-1.3;-1.13;-1.04	5.62	5.62	0.85841	.	0.089656	0.47852	D	0.000209	D	0.87732	0.6251	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.83127	-0.0115	10	0.20519	T	0.43	.	20.0247	0.97519	0.0:0.0:1.0:0.0	.	280	D6RFZ0	.	F	280;2323;280;178	ENSP00000303316:L2323F;ENSP00000443129:L280F;ENSP00000285141:L178F	ENSP00000285141:L178F	L	-	1	0	FAM38B	10681266	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.824000	0.99380	2.804000	0.96469	0.655000	0.94253	CTC	.	.		0.507	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068	
CHMP1B	57132	hgsc.bcm.edu	37	18	11852040	11852040	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr18:11852040G>C	ENST00000526991.2	+	1	646	c.530G>C	c.(529-531)gGc>gCc	p.G177A	GNAL_ENST00000423027.3_Intron|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000269162.5_Intron|RP11-78A19.3_ENST00000586474.1_RNA	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	177	Interaction with SPAST.				cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						GGCTCCGTGGGCACGAGCGTG	0.632																																					p.G177A		Atlas-SNP	.											.	CHMP1B	16	.	0			c.G530C						.						20.0	25.0	23.0					18																	11852040		2005	4151	6156	SO:0001583	missense	57132	exon1			CCGTGGGCACGAG	AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.530G>C	chr18.hg19:g.11852040G>C	ENSP00000432279:p.Gly177Ala	60.0	0.0		55.0	15.0	NM_020412	Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	hg19	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371131	0.24771	.	.	ENSG00000255112	ENST00000526991	D	0.85556	-2.0	5.21	1.15	0.20763	.	.	.	.	.	T	0.73297	0.3569	L	0.28608	0.87	0.51482	D	0.999928	B	0.02656	0.0	B	0.01281	0.0	T	0.60172	-0.7315	9	0.16896	T	0.51	.	9.9412	0.41580	0.077:0.3882:0.5348:0.0	.	177	Q7LBR1	CHM1B_HUMAN	A	177	ENSP00000432279:G177A	ENSP00000432279:G177A	G	+	2	0	CHMP1B	11842040	1.000000	0.71417	0.537000	0.28052	0.992000	0.81027	1.943000	0.40253	0.435000	0.26365	0.655000	0.94253	GGC	.	.		0.632	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	NM_020412	
LOXHD1	125336	hgsc.bcm.edu	37	18	44085896	44085896	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr18:44085896T>C	ENST00000398722.4	-	30	4948	c.4949A>G	c.(4948-4950)aAc>aGc	p.N1650S	LOXHD1_ENST00000582408.1_Missense_Mutation_p.N755S|LOXHD1_ENST00000579038.1_Missense_Mutation_p.N721S|LOXHD1_ENST00000441893.2_Missense_Mutation_p.N799S|LOXHD1_ENST00000398705.2_Missense_Mutation_p.N167S|LOXHD1_ENST00000300591.6_Missense_Mutation_p.N817S|LOXHD1_ENST00000536736.1_Missense_Mutation_p.N1866S|LOXHD1_ENST00000398686.4_Missense_Mutation_p.N167S|LOXHD1_ENST00000441551.2_Missense_Mutation_p.N1722S			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1650	PLAT 12. {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						CTCAAACTTGTTCCAGTTTGC	0.562																																					p.N1866S		Atlas-SNP	.											.	LOXHD1	367	.	0			c.A5597G						.						203.0	190.0	194.0					18																	44085896		692	1591	2283	SO:0001583	missense	125336	exon36			AACTTGTTCCAGT	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.4949A>G	chr18.hg19:g.44085896T>C	ENSP00000381707:p.Asn1650Ser	91.0	0.0		89.0	29.0	NM_144612	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	hg19		.	.	.	.	.	.	.	.	.	.	T	15.89	2.965689	0.53507	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686;ENST00000414184	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.64	5.64	0.86602	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	.	.	.	.	T	0.60779	0.2295	M	0.73962	2.25	0.53005	D	0.999961	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.994	T	0.63005	-0.6733	9	0.51188	T	0.08	.	15.8555	0.78975	0.0:0.0:0.0:1.0	.	1866;799;1650	F5GZB4;F8WA52;Q8IVV2	.;.;LOXH1_HUMAN	S	817;1650;167;1866;799;167;167	ENSP00000300591:N817S;ENSP00000381707:N1650S;ENSP00000381692:N167S;ENSP00000444586:N1866S;ENSP00000409062:N799S;ENSP00000381676:N167S;ENSP00000392440:N167S	ENSP00000300591:N817S	N	-	2	0	LOXHD1	42339894	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.008000	0.88588	2.139000	0.66308	0.533000	0.62120	AAC	.	.		0.562	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
TCF4	6925	hgsc.bcm.edu	37	18	53128331	53128331	+	Missense_Mutation	SNP	T	T	C	rs567398278		TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr18:53128331T>C	ENST00000356073.4	-	5	834	c.223A>G	c.(223-225)Act>Gct	p.T75A	TCF4_ENST00000398339.1_Missense_Mutation_p.T177A|TCF4_ENST00000543082.1_Missense_Mutation_p.T33A|TCF4_ENST00000567880.1_Missense_Mutation_p.T75A|TCF4_ENST00000566286.1_Missense_Mutation_p.T73A|TCF4_ENST00000568740.1_Missense_Mutation_p.T51A|TCF4_ENST00000564999.1_Missense_Mutation_p.T75A|TCF4_ENST00000540999.1_Missense_Mutation_p.T51A|TCF4_ENST00000566279.1_Missense_Mutation_p.T75A|TCF4_ENST00000354452.3_Missense_Mutation_p.T75A|TCF4_ENST00000565018.2_Missense_Mutation_p.T75A|TCF4_ENST00000568673.1_Missense_Mutation_p.T51A|TCF4_ENST00000564403.2_Missense_Mutation_p.T75A|TCF4_ENST00000537578.1_Missense_Mutation_p.T51A|RP11-619L19.1_ENST00000587660.1_RNA	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	75	Essential for MYOD1 inhibition. {ECO:0000250}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCATAGGGAGTCCCATCTCCA	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		18115	0.0		0.0	False		,,,				2504	0.001				p.T177A		Atlas-SNP	.											.	TCF4	178	.	0			c.A529G						.						93.0	91.0	92.0					18																	53128331		2203	4300	6503	SO:0001583	missense	6925	exon6			AGGGAGTCCCATC	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.223A>G	chr18.hg19:g.53128331T>C	ENSP00000348374:p.Thr75Ala	87.0	0.0		96.0	33.0	NM_001243226	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	T	8.258	0.810504	0.16537	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000398339	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.95	5.95	0.96441	.	0.109014	0.42172	D	0.000758	T	0.22589	0.0545	N	0.02247	-0.625	0.37238	D	0.905995	B;B;B;B;B	0.23540	0.001;0.026;0.087;0.001;0.002	B;B;B;B;B	0.21151	0.003;0.033;0.024;0.001;0.003	T	0.27571	-1.0070	10	0.10377	T	0.69	-19.8964	14.6535	0.68814	0.0:0.0:0.0:1.0	.	51;75;177;75;33	B7Z5M6;G0LNT9;E9PH57;P15884;B3KUC0	.;.;.;ITF2_HUMAN;.	A	75;75;33;51;51;177	ENSP00000346440:T75A;ENSP00000348374:T75A;ENSP00000439656:T33A;ENSP00000445202:T51A;ENSP00000440731:T51A;ENSP00000381382:T177A	ENSP00000346440:T75A	T	-	1	0	TCF4	51279329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.624000	0.46444	2.279000	0.76181	0.533000	0.62120	ACT	.	.		0.363	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	
NETO1	81832	hgsc.bcm.edu	37	18	70532098	70532098	+	Silent	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr18:70532098A>G	ENST00000327305.6	-	3	822	c.165T>C	c.(163-165)tcT>tcC	p.S55S	NETO1_ENST00000583169.1_Silent_p.S55S|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Silent_p.S54S|NETO1_ENST00000397929.1_Silent_p.S54S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	55	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATAGTTGGGAGAGGTAAAGA	0.438																																					p.S55S		Atlas-SNP	.											.	NETO1	178	.	0			c.T165C						.						119.0	108.0	112.0					18																	70532098		2203	4300	6503	SO:0001819	synonymous_variant	81832	exon3			GTTGGGAGAGGTA	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.165T>C	chr18.hg19:g.70532098A>G		99.0	0.0		106.0	28.0	NM_001201465	Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	hg19	CCDS12000.1																																																																																			.	.		0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	
CNDP2	55748	hgsc.bcm.edu	37	18	72186270	72186270	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr18:72186270A>G	ENST00000324262.4	+	11	1613	c.1297A>G	c.(1297-1299)Atg>Gtg	p.M433V	CNDP2_ENST00000579847.1_Missense_Mutation_p.M433V|CNDP2_ENST00000324301.8_Missense_Mutation_p.M349V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	433					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.M433V(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CAAGAACGTCATGCTGCTGCC	0.592																																					p.M433V		Atlas-SNP	.											CNDP2,NS,carcinoma,0,1	CNDP2	55	.	1	Substitution - Missense(1)	endometrium(1)	c.A1297G						.						82.0	81.0	81.0					18																	72186270		2203	4300	6503	SO:0001583	missense	55748	exon11			AACGTCATGCTGC	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1297A>G	chr18.hg19:g.72186270A>G	ENSP00000325548:p.Met433Val	99.0	0.0		106.0	41.0	NM_018235	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	hg19	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023295	0.35701	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.41065	1.01;1.01	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	N	0.17922	0.545	0.80722	D	1	B;B	0.34290	0.447;0.104	B;B	0.25884	0.064;0.053	T	0.08207	-1.0733	10	0.15952	T	0.53	-25.2161	15.4304	0.75092	1.0:0.0:0.0:0.0	.	349;433	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	V	433;349	ENSP00000325548:M433V;ENSP00000325756:M349V	ENSP00000325548:M433V	M	+	1	0	CNDP2	70337250	1.000000	0.71417	0.994000	0.49952	0.462000	0.32619	7.205000	0.77881	2.054000	0.61138	0.528000	0.53228	ATG	.	.		0.592	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
DUS3L	56931	hgsc.bcm.edu	37	19	5789493	5789493	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:5789493C>T	ENST00000309061.7	-	3	721	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	209							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGTCCAGGCCGTTGCGGATG	0.726																																					p.G209S		Atlas-SNP	.											.	DUS3L	42	.	0			c.G625A						.						9.0	13.0	12.0					19																	5789493		2150	4224	6374	SO:0001583	missense	56931	exon3			CCAGGCCGTTGCG		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.625G>A	chr19.hg19:g.5789493C>T	ENSP00000311977:p.Gly209Ser	66.0	0.0		63.0	23.0	NM_020175	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	hg19	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341799	0.11069	.	.	ENSG00000141994	ENST00000309061	T	0.16743	2.32	4.51	1.15	0.20763	.	0.170564	0.49305	N	0.000146	T	0.08846	0.0219	N	0.25201	0.72	0.28585	N	0.909914	B	0.06786	0.001	B	0.08055	0.003	T	0.28235	-1.0050	10	0.20519	T	0.43	-53.1615	6.1525	0.20320	0.0:0.5804:0.0:0.4196	.	209	Q96G46	DUS3L_HUMAN	S	209	ENSP00000311977:G209S	ENSP00000311977:G209S	G	-	1	0	DUS3L	5740493	0.909000	0.30893	0.456000	0.27044	0.331000	0.28603	0.464000	0.21988	0.346000	0.23899	0.491000	0.48974	GGC	.	.		0.726	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175	
MCEMP1	199675	hgsc.bcm.edu	37	19	7743056	7743056	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:7743056T>C	ENST00000333598.3	+	3	705	c.251T>C	c.(250-252)cTg>cCg	p.L84P	CTD-3214H19.16_ENST00000597959.1_5'Flank|TRAPPC5_ENST00000596148.1_5'Flank|C19orf59_ENST00000597445.1_Missense_Mutation_p.L41P|TRAPPC5_ENST00000317378.5_5'Flank|TRAPPC5_ENST00000426877.2_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		84						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						AGAGCCATCCTGAGCCTGTAC	0.592											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L84P		Atlas-SNP	.											.	C19orf59	15	.	0			c.T251C						.						128.0	118.0	121.0					19																	7743056		2203	4300	6503	SO:0001583	missense	199675	exon3			CCATCCTGAGCCT																												ENST00000333598.3:c.251T>C	chr19.hg19:g.7743056T>C	ENSP00000329920:p.Leu84Pro	60.0	0.0	644	65.0	22.0	NM_174918	Q8IX20	Missense_Mutation	SNP	ENST00000333598.3	hg19	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209276	0.39003	.	.	ENSG00000183019	ENST00000333598	T	0.34072	1.38	3.94	3.94	0.45596	.	0.436137	0.19540	N	0.111839	T	0.35799	0.0944	N	0.14661	0.345	0.52501	D	0.99995	D	0.64830	0.994	P	0.59889	0.865	T	0.25710	-1.0124	10	0.72032	D	0.01	-16.2768	9.7525	0.40483	0.0:0.0:0.0:1.0	.	84	Q8IX19	MCEM1_HUMAN	P	84	ENSP00000329920:L84P	ENSP00000329920:L84P	L	+	2	0	C19orf59	7649056	0.483000	0.25956	0.833000	0.33012	0.167000	0.22549	0.691000	0.25467	1.731000	0.51592	0.459000	0.35465	CTG	.	.		0.592	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1		
MUC16	94025	hgsc.bcm.edu	37	19	8959675	8959675	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:8959675T>G	ENST00000397910.4	-	84	43660	c.43457A>C	c.(43456-43458)gAa>gCa	p.E14486A	MUC16_ENST00000380951.5_Missense_Mutation_p.E1127A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22131	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACGTTGTATTCTCCTTCCTT	0.602																																					p.E14486A		Atlas-SNP	.											.	MUC16	4315	.	0			c.A43457C						.						96.0	98.0	97.0					19																	8959675		2012	4186	6198	SO:0001583	missense	94025	exon84			TTGTATTCTCCTT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43457A>C	chr19.hg19:g.8959675T>G	ENSP00000381008:p.Glu14486Ala	72.0	0.0		77.0	23.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.23|11.23	1.576779|1.576779	0.28092|0.28092	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T|.	0.01963|.	4.53|.	3.47|3.47	1.29|1.29	0.21616|0.21616	.|.	.|.	.|.	.|.	.|.	T|T	0.34077|0.34077	0.0885|0.0885	L|L	0.44542|0.44542	1.39|1.39	.|.	.|.	.|.	B;B|.	0.20988|.	0.005;0.05|.	B;B|.	0.20767|.	0.003;0.031|.	T|T	0.37572|0.37572	-0.9700|-0.9700	8|4	0.41790|.	T|.	0.15|.	.|.	3.6684|3.6684	0.08265|0.08265	0.0:0.1225:0.2252:0.6523|0.0:0.1225:0.2252:0.6523	.|.	22131;14486|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	A|H	14486;1127|1309	ENSP00000381008:E14486A|.	ENSP00000370338:E1127A|.	E|N	-|-	2|1	0|0	MUC16|MUC16	8820675|8820675	0.003000|0.003000	0.15002|0.15002	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	1.155000|1.155000	0.31700|0.31700	0.202000|0.202000	0.20498|0.20498	0.402000|0.402000	0.26972|0.26972	GAA|AAT	.	.		0.602	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	8993436	8993436	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:8993436G>T	ENST00000397910.4	-	66	41856	c.41653C>A	c.(41653-41655)Ctg>Atg	p.L13885M	MUC16_ENST00000380951.5_Missense_Mutation_p.L526M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13888	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGGTCAGCTGGCTCAGC	0.592																																					p.L13885M		Atlas-SNP	.											.	MUC16	4315	.	0			c.C41653A						.						137.0	128.0	130.0					19																	8993436		2034	4172	6206	SO:0001583	missense	94025	exon66			GGGTCAGCTGGCT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41653C>A	chr19.hg19:g.8993436G>T	ENSP00000381008:p.Leu13885Met	66.0	0.0		82.0	5.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.86|14.86	2.662276|2.662276	0.47572|0.47572	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.51071|.	0.72;0.72|.	3.61|3.61	-2.7|-2.7	0.06004|0.06004	SEA (1);|.	1.919400|.	0.03817|.	U|.	0.266884|.	T|T	0.52693|0.52693	0.1750|0.1750	M|M	0.62266|0.62266	1.93|1.93	.|.	.|.	.|.	P;D|.	0.57899|.	0.938;0.981|.	P;D|.	0.79784|.	0.69;0.993|.	T|T	0.60576|0.60576	-0.7236|-0.7236	9|4	0.36615|.	T|.	0.2|.	.|.	9.0969|9.0969	0.36645|0.36645	0.122:0.2454:0.6326:0.0|0.122:0.2454:0.6326:0.0	.|.	21530;13885|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	M|R	13885;526|724	ENSP00000381008:L13885M;ENSP00000370338:L526M|.	ENSP00000370338:L526M|.	L|S	-|-	1|3	2|2	MUC16|MUC16	8854436|8854436	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.806000|0.806000	0.45545|0.45545	-1.156000|-1.156000	0.03160|0.03160	-0.271000|-0.271000	0.09272|0.09272	0.557000|0.557000	0.71058|0.71058	CTG|AGC	.	.		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ATP13A1	57130	hgsc.bcm.edu	37	19	19766404	19766404	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:19766404C>G	ENST00000357324.6	-	10	1355	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.E325D	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	443						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGATGAAGGTCTCCAGGTTGT	0.582																																					p.E443D	Esophageal Squamous(142;920 1789 9047 14684 24777)	Atlas-SNP	.											.	ATP13A1	82	.	0			c.G1329C						.						78.0	68.0	71.0					19																	19766404		2203	4300	6503	SO:0001583	missense	57130	exon10			GAAGGTCTCCAGG	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1329G>C	chr19.hg19:g.19766404C>G	ENSP00000349877:p.Glu443Asp	82.0	0.0		92.0	42.0	NM_020410	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	hg19	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746203	0.69418	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.88586	-2.4;-2.4	4.25	0.871	0.19107	ATPase, P-type, ATPase-associated domain (1);	0.106634	0.64402	D	0.000005	D	0.86531	0.5955	L	0.46614	1.455	0.54753	D	0.999981	P;P	0.45634	0.863;0.723	P;B	0.54312	0.748;0.018	T	0.80077	-0.1533	10	0.13108	T	0.6	-30.16	6.6069	0.22729	0.0:0.588:0.0:0.412	.	443;325	Q9HD20;Q9HD20-2	AT131_HUMAN;.	D	325;443	ENSP00000291503:E325D;ENSP00000349877:E443D	ENSP00000291503:E325D	E	-	3	2	ATP13A1	19627404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.784000	0.26816	0.465000	0.27167	0.561000	0.74099	GAG	.	.		0.582	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	
HPN	3249	hgsc.bcm.edu	37	19	35551277	35551277	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:35551277G>T	ENST00000262626.2	+	8	1306	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	HPN_ENST00000392226.1_Missense_Mutation_p.D161Y|HPN_ENST00000597419.1_Intron|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	161					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCTGCCCGTGGACCGCATCGT	0.687																																					p.D161Y		Atlas-SNP	.											.	HPN	45	.	0			c.G481T						.						40.0	46.0	44.0					19																	35551277		2203	4298	6501	SO:0001583	missense	3249	exon8			CCCGTGGACCGCA		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.481G>T	chr19.hg19:g.35551277G>T	ENSP00000262626:p.Asp161Tyr	63.0	0.0		98.0	54.0	NM_182983	B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	hg19	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025858	0.75390	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.89050	-2.46;-2.46	4.92	4.92	0.64577	Peptidase cysteine/serine, trypsin-like (1);	0.051226	0.85682	D	0.000000	D	0.91764	0.7395	L	0.43554	1.36	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;P	0.70227	0.942;0.968;0.898	D	0.92439	0.5960	10	0.72032	D	0.01	.	15.6684	0.77252	0.0:0.0:1.0:0.0	.	133;161;161	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	Y	161;161;133	ENSP00000262626:D161Y;ENSP00000376060:D161Y	ENSP00000262626:D161Y	D	+	1	0	HPN	40243117	1.000000	0.71417	0.362000	0.25862	0.948000	0.59901	7.097000	0.76967	2.561000	0.86390	0.555000	0.69702	GAC	.	.		0.687	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151	
ZNF229	7772	hgsc.bcm.edu	37	19	44933829	44933829	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:44933829G>T	ENST00000588931.1	-	6	1560	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.P370H|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACATTTATAGGGTCTCCTTCC	0.478																																					p.P376H		Atlas-SNP	.											.	ZNF229	123	.	0			c.C1127A						.						100.0	108.0	106.0					19																	44933829		2165	4294	6459	SO:0001583	missense	7772	exon6			TTATAGGGTCTCC	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1127C>A	chr19.hg19:g.44933829G>T	ENSP00000466519:p.Pro376His	77.0	0.0		153.0	36.0	NM_014518	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	hg19	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297676	0.81025	.	.	ENSG00000167383	ENST00000291187	.	.	.	4.07	1.38	0.22167	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67562	0.2906	M	0.83223	2.63	0.26784	N	0.969543	D	0.76494	0.999	D	0.64410	0.925	T	0.62067	-0.6932	8	0.87932	D	0	.	12.869	0.57955	0.0:0.44:0.56:0.0	.	376	Q9UJW7	ZN229_HUMAN	H	376	.	ENSP00000291187:P376H	P	-	2	0	ZNF229	49625669	0.994000	0.37717	0.000000	0.03702	0.498000	0.33706	2.911000	0.48774	0.015000	0.14971	0.609000	0.83330	CCC	.	.		0.478	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
EMC10	284361	hgsc.bcm.edu	37	19	50984147	50984147	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:50984147G>T	ENST00000334976.6	+	6	637	c.591G>T	c.(589-591)gaG>gaT	p.E197D	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Missense_Mutation_p.E197D|EMC10_ENST00000376918.3_Missense_Mutation_p.E197D	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	197						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											CCAGCCCTGAGACGGCGGCCT	0.657																																					p.E197D		Atlas-SNP	.											.	.	.	.	0			c.G591T						.						42.0	53.0	50.0					19																	50984147		2203	4300	6503	SO:0001583	missense	284361	exon6			CCCTGAGACGGCG	BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.591G>T	chr19.hg19:g.50984147G>T	ENSP00000334037:p.Glu197Asp	83.0	0.0		119.0	63.0	NM_175063	Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	ENST00000334976.6	hg19	CCDS12796.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733873	0.30684	.	.	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	4.47	3.43	0.39272	.	0.111617	0.64402	D	0.000016	T	0.49098	0.1537	N	0.21142	0.635	0.58432	D	0.999996	P;D;P	0.71674	0.791;0.998;0.569	B;D;B	0.64042	0.281;0.921;0.182	T	0.43940	-0.9360	9	0.05620	T	0.96	-16.9198	12.0572	0.53542	0.0888:0.0:0.9112:0.0	.	197;197;197	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	D	197	.	ENSP00000334037:E197D	E	+	3	2	C19orf63	55675959	1.000000	0.71417	0.369000	0.25952	0.011000	0.07611	3.677000	0.54619	1.194000	0.43101	0.491000	0.48974	GAG	.	.		0.657	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063	
LILRB3	11025	hgsc.bcm.edu	37	19	54724954	54724954	+	Splice_Site	SNP	C	C	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:54724954C>A	ENST00000391750.1	-	6	1092		c.e6+1		LILRB3_ENST00000424807.1_Splice_Site|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000245620.9_Splice_Site|LILRB3_ENST00000469273.1_5'Flank|LILRB3_ENST00000346401.6_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRA6_ENST00000391735.3_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTCCTCACCTGCCATCAG	0.682																																					.		Atlas-SNP	.											.	LILRB3	67	.	0			c.955+1G>T						.						8.0	8.0	8.0					19																	54724954		1528	1746	3274	SO:0001630	splice_region_variant	11025	exon6			TCCTCACCTGCCA	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.955+1G>T	chr19.hg19:g.54724954C>A		50.0	0.0		66.0	33.0	NM_001081450	C9J1P3|C9JIP1|O15471|Q86U49	Splice_Site	SNP	ENST00000391750.1	hg19	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	.	1.661	-0.511463	0.04231	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000270464	.	.	.	2.52	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.29538	N	0.852298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0204	0.14358	0.0:0.829:0.0:0.171	.	.	.	.	.	-1	.	.	.	-	.	.	LILRB3;LILRA6	59416766	0.027000	0.19231	0.430000	0.26722	0.105000	0.19272	0.893000	0.28336	0.628000	0.30357	0.573000	0.79308	.	.	.		0.682	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	Intron
ZIM3	114026	hgsc.bcm.edu	37	19	57648312	57648312	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:57648312A>G	ENST00000269834.1	-	4	555	c.170T>C	c.(169-171)gTg>gCg	p.V57A	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTCAAGATCACATCGGGTTT	0.512																																					p.V57A		Atlas-SNP	.											.	ZIM3	107	.	0			c.T170C						.						280.0	195.0	224.0					19																	57648312		2203	4300	6503	SO:0001583	missense	114026	exon4			AAGATCACATCGG	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.170T>C	chr19.hg19:g.57648312A>G	ENSP00000269834:p.Val57Ala	126.0	0.0		203.0	89.0	NM_052882	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	hg19	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762688	0.31228	.	.	ENSG00000141946	ENST00000269834	T	0.00864	5.6	2.58	2.58	0.30949	Krueppel-associated box (3);	.	.	.	.	T	0.01523	0.0049	L	0.58354	1.805	0.21878	N	0.999494	B	0.31837	0.342	B	0.34138	0.176	T	0.40887	-0.9539	9	0.62326	D	0.03	.	7.9963	0.30269	1.0:0.0:0.0:0.0	.	57	Q96PE6	ZIM3_HUMAN	A	57	ENSP00000269834:V57A	ENSP00000269834:V57A	V	-	2	0	ZIM3	62340124	0.026000	0.19158	0.225000	0.23894	0.052000	0.14988	2.220000	0.42908	1.049000	0.40321	0.260000	0.18958	GTG	.	.		0.512	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ZNF587	84914	hgsc.bcm.edu	37	19	58370623	58370623	+	Silent	SNP	C	C	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr19:58370623C>T	ENST00000339656.5	+	3	1025	c.843C>T	c.(841-843)agC>agT	p.S281S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Silent_p.S280S|ZNF587_ENST00000419854.1_Silent_p.S238S|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTCGAAAGAGCAGCCTTATTC	0.458																																					p.S281S	Pancreas(59;641 1233 1885 20055 50741)	Atlas-SNP	.											.	ZNF587	53	.	0			c.C843T						.						70.0	71.0	70.0					19																	58370623		2198	4290	6488	SO:0001819	synonymous_variant	84914	exon3			AAAGAGCAGCCTT	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.843C>T	chr19.hg19:g.58370623C>T		211.0	0.0		296.0	154.0	NM_032828	A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	hg19	CCDS12964.1																																																																																			.	.		0.458	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828	
ITCH	83737	hgsc.bcm.edu	37	20	33059320	33059320	+	Splice_Site	SNP	G	G	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr20:33059320G>C	ENST00000262650.6	+	17	1828	c.1692G>C	c.(1690-1692)caG>caC	p.Q564H	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000374864.4_Splice_Site_p.Q523H|ITCH_ENST00000535650.1_Splice_Site_p.Q413H			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	564					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CCTTTCAACAGGTACTGTTTC	0.408																																					p.Q564H		Atlas-SNP	.											.	ITCH	73	.	0			c.G1692C						.						111.0	110.0	110.0					20																	33059320		2203	4300	6503	SO:0001630	splice_region_variant	83737	exon17			TCAACAGGTACTG	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1692+1G>C	chr20.hg19:g.33059320G>C		69.0	0.0		112.0	54.0	NM_001257137	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	hg19	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223968	0.79576	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.76578	-1.03;-1.03;-1.03	5.62	5.62	0.85841	HECT (1);	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	L	0.60904	1.88	0.80722	D	1	D;D;D	0.76494	0.981;0.998;0.999	D;P;D	0.66602	0.935;0.891;0.945	D	0.85501	0.1191	10	0.87932	D	0	.	13.9095	0.63857	0.0739:0.0:0.9261:0.0	.	475;564;523	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	H	523;413;564	ENSP00000363998:Q523H;ENSP00000445608:Q413H;ENSP00000262650:Q564H	ENSP00000262650:Q564H	Q	+	3	2	ITCH	32522981	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.381000	0.73163	2.802000	0.96397	0.655000	0.94253	CAG	.	.		0.408	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2		Missense_Mutation
ITCH	83737	hgsc.bcm.edu	37	20	33095536	33095536	+	Silent	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr20:33095536T>C	ENST00000262650.6	+	26	2785	c.2649T>C	c.(2647-2649)taT>taC	p.Y883Y	ITCH_ENST00000374864.4_Silent_p.Y842Y|ITCH_ENST00000535650.1_Silent_p.Y732Y			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	883	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACAAGAGCTATGAGCAACTGA	0.383																																					p.Y883Y		Atlas-SNP	.											.	ITCH	73	.	0			c.T2649C						.						113.0	105.0	108.0					20																	33095536		2203	4300	6503	SO:0001819	synonymous_variant	83737	exon26			GAGCTATGAGCAA	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2649T>C	chr20.hg19:g.33095536T>C		64.0	0.0		106.0	22.0	NM_001257137	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	hg19	CCDS58768.1																																																																																			.	.		0.383	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2		
CEP250	11190	hgsc.bcm.edu	37	20	34063355	34063355	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr20:34063355A>G	ENST00000397527.1	+	15	2320	c.1600A>G	c.(1600-1602)Aaa>Gaa	p.K534E	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.K534E|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	534	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTGGAAGCCAAACAGTCAGA	0.507																																					p.K534E		Atlas-SNP	.											.	CEP250	141	.	0			c.A1600G						.						131.0	116.0	121.0					20																	34063355		2203	4300	6503	SO:0001583	missense	11190	exon15			GAAGCCAAACAGT	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1600A>G	chr20.hg19:g.34063355A>G	ENSP00000380661:p.Lys534Glu	75.0	0.0		105.0	31.0	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	hg19	CCDS13255.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.17|17.17	3.322447|3.322447	0.60634|0.60634	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934|ENST00000425096	T;T;T|.	0.31247|.	2.4;2.43;1.5|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.369047|.	0.22832|.	N|.	0.055096|.	T|T	0.57695|0.57695	0.2071|0.2071	M|M	0.65975|0.65975	2.015|2.015	0.30555|0.30555	N|N	0.765114|0.765114	P|.	0.47350|.	0.894|.	B|.	0.43990|.	0.438|.	T|T	0.60875|0.60875	-0.7176|-0.7176	10|5	0.19147|.	T|.	0.46|.	.|.	13.2082|13.2082	0.59809|0.59809	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	534|.	Q9BV73|.	CP250_HUMAN|.	E|R	534;534;533|47	ENSP00000380661:K534E;ENSP00000341541:K534E;ENSP00000413827:K533E|.	ENSP00000341541:K534E|.	K|Q	+|+	1|2	0|0	CEP250|CEP250	33526769|33526769	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.720000|0.720000	0.41350|0.41350	5.472000|5.472000	0.66768|0.66768	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	AAA|CAA	.	.		0.507	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
TTI1	9675	hgsc.bcm.edu	37	20	36641091	36641091	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr20:36641091T>G	ENST00000373448.2	-	3	1366	c.1128A>C	c.(1126-1128)gaA>gaC	p.E376D	TTI1_ENST00000373447.3_Missense_Mutation_p.E376D|TTI1_ENST00000449821.1_Missense_Mutation_p.E376D|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	376					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AATGCAGGCTTTCTGACAAGA	0.453																																					p.E376D		Atlas-SNP	.											.	TTI1	104	.	0			c.A1128C						.						153.0	155.0	155.0					20																	36641091		2203	4300	6503	SO:0001583	missense	9675	exon3			CAGGCTTTCTGAC	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1128A>C	chr20.hg19:g.36641091T>G	ENSP00000362547:p.Glu376Asp	97.0	0.0		183.0	73.0	NM_014657	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	hg19	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459123	0.63401	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.17528	2.27;2.27;2.27	5.5	-0.494	0.12034	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	M	0.78049	2.395	0.52501	D	0.999951	D	0.76494	0.999	D	0.74348	0.983	T	0.04737	-1.0930	10	0.34782	T	0.22	-12.1816	11.4134	0.49939	0.0:0.5725:0.0:0.4275	.	376	O43156	TTI1_HUMAN	D	376	ENSP00000362547:E376D;ENSP00000362546:E376D;ENSP00000407270:E376D	ENSP00000362546:E376D	E	-	3	2	TTI1	36074505	1.000000	0.71417	0.989000	0.46669	0.915000	0.54546	1.143000	0.31553	-0.260000	0.09418	0.533000	0.62120	GAA	.	.		0.453	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657	
MC3R	4159	hgsc.bcm.edu	37	20	54823965	54823965	+	Silent	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr20:54823965A>G	ENST00000243911.2	+	1	178	c.66A>G	c.(64-66)caA>caG	p.Q22Q		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	22					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCACCTCCAAGCCCCTTTCT	0.572																																					p.Q22Q		Atlas-SNP	.											.	MC3R	83	.	0			c.A66G						.						115.0	113.0	113.0					20																	54823965		2203	4300	6503	SO:0001819	synonymous_variant	4159	exon1			CCTCCAAGCCCCT		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.66A>G	chr20.hg19:g.54823965A>G		40.0	0.0		75.0	13.0	NM_019888	Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	hg19	CCDS13449.2																																																																																			.	.		0.572	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
MC3R	4159	hgsc.bcm.edu	37	20	54823996	54823996	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr20:54823996G>A	ENST00000243911.2	+	1	209	c.97G>A	c.(97-99)Gcc>Acc	p.A33T		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	33					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GAGCAGCAGCGCCTTCTGTGA	0.557																																					p.A33T		Atlas-SNP	.											.	MC3R	83	.	0			c.G97A	GRCh37	CM074934	MC3R	M		.						122.0	113.0	116.0					20																	54823996		2203	4300	6503	SO:0001583	missense	4159	exon1			AGCAGCGCCTTCT		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.97G>A	chr20.hg19:g.54823996G>A	ENSP00000243911:p.Ala33Thr	41.0	0.0		80.0	22.0	NM_019888	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	hg19	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	2.886	-0.230838	0.05983	.	.	ENSG00000124089	ENST00000243911	T	0.36878	1.23	5.01	-1.94	0.07571	.	0.488989	0.19418	N	0.114767	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08953	-1.0697	10	0.40728	T	0.16	.	8.5843	0.33649	0.1886:0.3029:0.5085:0.0	.	70	P41968	MC3R_HUMAN	T	33	ENSP00000243911:A33T	ENSP00000243911:A33T	A	+	1	0	MC3R	54257403	0.053000	0.20554	0.000000	0.03702	0.240000	0.25518	2.055000	0.41345	-1.096000	0.03046	-0.810000	0.03169	GCC	.	.		0.557	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
DEPDC5	9681	hgsc.bcm.edu	37	22	32241108	32241108	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr22:32241108A>G	ENST00000382112.3	+	29	2949	c.2879A>G	c.(2878-2880)tAt>tGt	p.Y960C	DEPDC5_ENST00000400248.2_Missense_Mutation_p.Y960C|DEPDC5_ENST00000400246.1_Missense_Mutation_p.Y969C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.Y891C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.Y960C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.Y891C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.Y969C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.Y969C	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	969					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCGACATCTATGGGGACAGG	0.622																																					p.Y969C		Atlas-SNP	.											.	DEPDC5	266	.	0			c.A2906G						.						74.0	80.0	78.0					22																	32241108		2135	4244	6379	SO:0001583	missense	9681	exon30			ACATCTATGGGGA	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2879A>G	chr22.hg19:g.32241108A>G	ENSP00000371546:p.Tyr960Cys	38.0	0.0		64.0	20.0	NM_001242896	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	hg19	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532144	0.85812	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.36157	1.3;1.7;1.7;1.67;1.27;1.69;1.67;1.7	5.3	5.3	0.74995	.	0.139654	0.49916	D	0.000131	T	0.57315	0.2045	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.997;0.998;0.998;0.988;0.996	T	0.60110	-0.7327	10	0.62326	D	0.03	.	14.4368	0.67287	1.0:0.0:0.0:0.0	.	290;969;891;969;960;960	B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	C	891;969;960;891;969;891;960;969;960	ENSP00000440210:Y891C;ENSP00000266091:Y969C;ENSP00000383108:Y960C;ENSP00000383105:Y969C;ENSP00000371539:Y891C;ENSP00000371546:Y960C;ENSP00000371545:Y969C;ENSP00000383107:Y960C	ENSP00000266091:Y969C	Y	+	2	0	DEPDC5	30571108	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	6.739000	0.74827	2.016000	0.59253	0.460000	0.39030	TAT	.	.		0.622	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
ACO2	50	hgsc.bcm.edu	37	22	41903896	41903896	+	Missense_Mutation	SNP	G	G	A	rs147763800		TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr22:41903896G>A	ENST00000216254.4	+	3	297	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	ACO2_ENST00000396512.3_Missense_Mutation_p.R92Q	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	92					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTGCGGCTGCGGCCGGACCGT	0.627																																					p.R92Q		Atlas-SNP	.											.	ACO2	58	.	0			c.G275A						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	36.0	36.0	36.0		275	4.7	1.0	22	dbSNP_134	36	0,8600		0,0,4300	no	missense	ACO2	NM_001098.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	92/781	41903896	1,13005	2203	4300	6503	SO:0001583	missense	50	exon3			GGCTGCGGCCGGA	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.275G>A	chr22.hg19:g.41903896G>A	ENSP00000216254:p.Arg92Gln	112.0	0.0		129.0	42.0	NM_001098	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	hg19	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644129	0.67244	2.27E-4	0.0	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.53206	0.63;0.63	4.66	4.66	0.58398	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.053969	0.85682	D	0.000000	T	0.47544	0.1451	M	0.78285	2.405	0.58432	D	0.999999	P;P	0.46395	0.588;0.877	B;B	0.32583	0.148;0.138	T	0.63501	-0.6623	10	0.66056	D	0.02	.	17.9056	0.88917	0.0:0.0:1.0:0.0	.	92;92	A2A274;Q99798	.;ACON_HUMAN	Q	92	ENSP00000216254:R92Q;ENSP00000379769:R92Q	ENSP00000216254:R92Q	R	+	2	0	ACO2	40233842	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	6.325000	0.72901	2.290000	0.77057	0.491000	0.48974	CGG	.	G|1.000;A|0.000		0.627	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098	
GPR64	10149	hgsc.bcm.edu	37	X	19051754	19051754	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chrX:19051754A>G	ENST00000379869.3	-	8	444	c.281T>C	c.(280-282)aTa>aCa	p.I94T	GPR64_ENST00000340581.3_Intron|GPR64_ENST00000356606.4_Intron|GPR64_ENST00000357544.3_Intron|GPR64_ENST00000379876.1_Missense_Mutation_p.I70T|GPR64_ENST00000354791.3_Missense_Mutation_p.I78T|GPR64_ENST00000379878.3_Missense_Mutation_p.I78T|GPR64_ENST00000379873.2_Missense_Mutation_p.I94T|GPR64_ENST00000357991.3_Missense_Mutation_p.I91T|GPR64_ENST00000360279.4_Intron	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	94					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGTTTTTACTATAGTGATTTT	0.249																																					p.I94T		Atlas-SNP	.											.	GPR64	102	.	0			c.T281C						.						36.0	37.0	36.0					X																	19051754		2191	4284	6475	SO:0001583	missense	10149	exon8			TTTACTATAGTGA	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.281T>C	chrX.hg19:g.19051754A>G	ENSP00000369198:p.Ile94Thr	345.0	0.0		415.0	263.0	NM_001184834	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	hg19	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.985247	0.53934	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000379869;ENST00000357991	T;T;T;T;T;T	0.35421	1.31;1.41;1.42;1.41;1.47;1.47	4.83	4.83	0.62350	.	0.000000	0.42821	D	0.000656	T	0.43986	0.1272	L	0.27053	0.805	0.29783	N	0.833842	D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.991;0.985;0.997	D;D;D;P;P;D	0.81914	0.995;0.995;0.995;0.763;0.585;0.989	T	0.41645	-0.9497	10	0.87932	D	0	.	9.699	0.40175	1.0:0.0:0.0:0.0	.	70;78;94;91;94;78	Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;GPR64_HUMAN;.	T	94;78;78;70;94;91	ENSP00000369202:I94T;ENSP00000369207:I78T;ENSP00000346845:I78T;ENSP00000369205:I70T;ENSP00000369198:I94T;ENSP00000350680:I91T	ENSP00000346845:I78T	I	-	2	0	GPR64	18961675	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.953000	0.56699	1.892000	0.54788	0.412000	0.27726	ATA	.	.		0.249	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
MAOA	4128	hgsc.bcm.edu	37	X	43571157	43571157	+	Silent	SNP	A	A	G			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chrX:43571157A>G	ENST00000338702.3	+	4	468	c.345A>G	c.(343-345)gtA>gtG	p.V115V	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	115					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	TTCCACCAGTATGGAATCCCA	0.373																																					p.V115V		Atlas-SNP	.											.	MAOA	48	.	0			c.A345G						.						149.0	138.0	142.0					X																	43571157		2203	4300	6503	SO:0001819	synonymous_variant	4128	exon4			ACCAGTATGGAAT		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.345A>G	chrX.hg19:g.43571157A>G		53.0	0.0		73.0	41.0	NM_000240	B4DF46|Q16426	Silent	SNP	ENST00000338702.3	hg19	CCDS14260.1																																																																																			.	.		0.373	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240	
SMC1A	8243	hgsc.bcm.edu	37	X	53421753	53421753	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chrX:53421753T>C	ENST00000322213.4	-	19	3045	c.2918A>G	c.(2917-2919)tAt>tGt	p.Y973C		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	973					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCTCGTGCATAGATACTGGA	0.557																																					p.Y973C		Atlas-SNP	.											.	SMC1A	112	.	0			c.A2918G						.						130.0	91.0	104.0					X																	53421753		2203	4300	6503	SO:0001583	missense	8243	exon19			CGTGCATAGATAC	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2918A>G	chrX.hg19:g.53421753T>C	ENSP00000323421:p.Tyr973Cys	19.0	0.0		17.0	8.0	NM_006306	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	hg19	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	-	19.18	3.777367	0.70107	.	.	ENSG00000072501	ENST00000322213	T	0.77877	-1.13	5.06	5.06	0.68205	RecF/RecN/SMC (1);	0.165870	0.39615	N	0.001306	D	0.86318	0.5904	M	0.83012	2.62	0.80722	D	1	D	0.58970	0.984	P	0.59288	0.855	D	0.87997	0.2753	10	0.59425	D	0.04	.	13.1602	0.59540	0.0:0.0:0.0:1.0	.	973	Q14683	SMC1A_HUMAN	C	973	ENSP00000323421:Y973C	ENSP00000323421:Y973C	Y	-	2	0	SMC1A	53438478	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.130000	0.57964	1.817000	0.53016	0.427000	0.28365	TAT	.	.		0.557	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
CLCN2	1181	hgsc.bcm.edu	37	3	184071906	184071907	+	Frame_Shift_Ins	INS	-	-	A	rs372735937		TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:184071906_184071907insA	ENST00000265593.4	-	15	1874_1875	c.1703_1704insT	c.(1702-1704)ctcfs	p.L568fs	CLCN2_ENST00000434054.2_Frame_Shift_Ins_p.L524fs|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Frame_Shift_Ins_p.L568fs|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Frame_Shift_Ins_p.L551fs	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	568					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGCCCCAGCCGAGCTCAGGCAG	0.624											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L568fs		Atlas-INDEL	.											.	CLCN2	74	.	0			c.1704_1705insT						.																																			SO:0001589	frameshift_variant	1181	exon15			.	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1704dupT	chr3.hg19:g.184071907_184071907dupA	ENSP00000265593:p.Leu568fs	62.0	0.0	1989	101.0	28.0	NM_004366	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Frame_Shift_Ins	INS	ENST00000265593.4	hg19	CCDS3263.1																																																																																			.	.		0.624	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		
CNTN3	5067	hgsc.bcm.edu	37	3	74414775	74414776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:74414775_74414776insT	ENST00000263665.6	-	8	1051_1052	c.1024_1025insA	c.(1024-1026)agcfs	p.S342fs		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	342	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGCTTGCCGCTTGCCCTGCAT	0.475																																					p.S342fs		Atlas-INDEL	.											.	CNTN3	174	.	0			c.1025_1026insA						.																																			SO:0001589	frameshift_variant	5067	exon8			.	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1025dupA	chr3.hg19:g.74414777_74414777dupT	ENSP00000263665:p.Ser342fs	83.0	0.0		121.0	39.0	NM_020872	B9EK50|Q9H039	Frame_Shift_Ins	INS	ENST00000263665.6	hg19	CCDS33790.1																																																																																			.	.		0.475	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
KCTD6	200845	hgsc.bcm.edu	37	3	58487150	58487158	+	In_Frame_Del	DEL	GACACCAGA	GACACCAGA	-			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	GACACCAGA	GACACCAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:58487150_58487158delGACACCAGA	ENST00000355076.6	+	2	1488_1496	c.505_513delGACACCAGA	c.(505-513)gacaccagadel	p.DTR169del	KCTD6_ENST00000404589.3_In_Frame_Del_p.DTR169del|KCTD6_ENST00000490264.1_In_Frame_Del_p.DTR169del	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	169					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GCACATGATGGACACCAGAGACTGCCAGG	0.421																																					p.168_171del		Atlas-INDEL	.											.	KCTD6	14	.	0			c.504_512del						.																																			SO:0001651	inframe_deletion	200845	exon3			.	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.505_513delGACACCAGA	chr3.hg19:g.58487150_58487158delGACACCAGA	ENSP00000347188:p.Asp169_Arg171del	172.0	0.0		169.0	36.0	NM_001128214	B3KNI5|Q8NBS6|Q8TCA6	In_Frame_Del	DEL	ENST00000355076.6	hg19	CCDS2891.1																																																																																			.	.		0.421	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331	
FAT1	2195	hgsc.bcm.edu	37	4	187534378	187534378	+	Frame_Shift_Del	DEL	T	T	-	rs375792265	byFrequency	TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr4:187534378delT	ENST00000441802.2	-	13	9557	c.9348delA	c.(9346-9348)gaafs	p.E3116fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3116	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTTCACATCTTCTAGCGTGA	0.532										HNSCC(5;0.00058)																											p.D3117fs	Colon(197;1040 2055 4143 4984 49344)	Atlas-INDEL	.											.	FAT1	500	.	0			c.9349delG						.						97.0	103.0	101.0					4																	187534378		2043	4194	6237	SO:0001589	frameshift_variant	2195	exon13			.	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9348delA	chr4.hg19:g.187534378delT	ENSP00000406229:p.Glu3116fs	70.0	0.0		69.0	28.0	NM_005245		Frame_Shift_Del	DEL	ENST00000441802.2	hg19	CCDS47177.1																																																																																			.	.		0.532	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
CDC25B	994	hgsc.bcm.edu	37	20	3783772	3783772	+	Frame_Shift_Del	DEL	G	G	-	rs146556613	byFrequency	TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr20:3783772delG	ENST00000245960.5	+	13	1972	c.1275delG	c.(1273-1275)acgfs	p.T425fs	CDC25B_ENST00000344256.6_Frame_Shift_Del_p.T361fs|CDC25B_ENST00000379598.5_Frame_Shift_Del_p.T334fs|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Frame_Shift_Del_p.T384fs|CDC25B_ENST00000439880.2_Frame_Shift_Del_p.T411fs	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	425					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CCCTATTGACGGGCAAGTTCA	0.557																																					p.T425fs		Atlas-INDEL	.											.	CDC25B	76	.	0			c.1274delC						.						86.0	75.0	79.0					20																	3783772		2203	4300	6503	SO:0001589	frameshift_variant	994	exon13			.		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1275delG	chr20.hg19:g.3783772delG	ENSP00000245960:p.Thr425fs	116.0	0.0		121.0	34.0	NM_021873	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Frame_Shift_Del	DEL	ENST00000245960.5	hg19	CCDS13067.1																																																																																			.	.		0.557	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874	
NOL7	51406	hgsc.bcm.edu	37	6	13621055	13621062	+	Stop_Codon_Del	DEL	AGTAAATC	AGTAAATC	-			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	AGTAAATC	AGTAAATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr6:13621055_13621062delAGTAAATC	ENST00000451315.2	+	0	802_809				RANBP9_ENST00000469916.1_5'Flank|AL441883.1_ENST00000600057.1_Frame_Shift_Del_p.LIY20fs|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			AAAACTAAGAAGTAAATCAATGCTAAAT	0.264																																					p.257_258del		Atlas-INDEL	.											.	NOL7	18	.	0			c.769_806del						.																																			SO:0001567	stop_retained_variant	51406	exon8			.	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	Exception_encountered	chr6.hg19:g.13621055_13621062delAGTAAATC	ENSP00000405674:p.*258Tyrext*1	353.0	0.0		354.0	58.0	NM_016167	Q5T297|Q9Y3U7	Frame_Shift_Del	DEL	ENST00000451315.2	hg19	CCDS4528.1																																																																																			.	.		0.264	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167	
PCDHGA4	56111	hgsc.bcm.edu	37	5	140736599	140736599	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr5:140736599delC	ENST00000571252.1	+	1	1832	c.1832delC	c.(1831-1833)tccfs	p.S612fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCAAGTCCAGCGAGCCG	0.627																																					p.S611fs		Atlas-INDEL	.											.	PCDHGA4	150	.	0			c.1831delT						.						45.0	53.0	50.0					5																	140736599		2194	4300	6494	SO:0001589	frameshift_variant	56111	exon1			.	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1832delC	chr5.hg19:g.140736599delC	ENSP00000458570:p.Ser612fs	143.0	0.0		126.0	14.0	NM_018917	Q9Y5D3	Frame_Shift_Del	DEL	ENST00000571252.1	hg19	CCDS58979.1																																																																																			.	.		0.627	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
PBLD	64081	hgsc.bcm.edu	37	10	70045070	70045073	+	Intron	DEL	CAAA	CAAA	-			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	CAAA	CAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr10:70045070_70045073delCAAA	ENST00000358769.2	-	9	957				PBLD_ENST00000309049.4_Intron|PBLD_ENST00000336578.1_Intron|PBLD_ENST00000432941.1_Frame_Shift_Del_p.YL262fs|PBLD_ENST00000495025.2_Frame_Shift_Del_p.YL262fs	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing						biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCGAATTAGGCAAATAAAAAAGAA	0.392																																					p.263_264del		Atlas-INDEL	.											.	PBLD	53	.	0			c.787_790del						.																																			SO:0001627	intron_variant	64081	exon9			.	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.754+31TTTG>-	chr10.hg19:g.70045070_70045073delCAAA		57.0	0.0		58.0	13.0	NM_001033083	A8MZJ3|C9JIM0|Q9HCC2	Frame_Shift_Del	DEL	ENST00000358769.2	hg19	CCDS7277.2																																																																																			.	.		0.392	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129	
SAMHD1	25939	hgsc.bcm.edu	37	20	35533779	35533780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr20:35533779_35533780insA	ENST00000262878.4	-	12	1596_1597	c.1397_1398insT	c.(1396-1398)atafs	p.I466fs		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	466					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTTTAATCTTTATTTGTCCTGT	0.396																																					p.I466fs		Atlas-INDEL	.											.	SAMHD1	62	.	0			c.1398_1399insT						.																																			SO:0001589	frameshift_variant	25939	exon12			.	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1398dupT	chr20.hg19:g.35533780_35533780dupA	ENSP00000262878:p.Ile466fs	107.0	0.0		238.0	40.0	NM_015474	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Frame_Shift_Ins	INS	ENST00000262878.4	hg19	CCDS13288.1																																																																																			.	.		0.396	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474	
HEATR6	63897	hgsc.bcm.edu	37	17	58134607	58134613	+	Frame_Shift_Del	DEL	CCACCAA	CCACCAA	-	rs139897992		TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	CCACCAA	CCACCAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr17:58134607_58134613delCCACCAA	ENST00000184956.6	-	12	1891_1897	c.1875_1881delTTGGTGG	c.(1873-1881)gattggtggfs	p.DWW625fs	HEATR6_ENST00000585976.1_Frame_Shift_Del_p.DWW625fs	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	625							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGGCTTTCTTCCACCAATCAGGAGGGC	0.527																																					p.626_628del		Atlas-INDEL	.											.	HEATR6	98	.	0			c.1876_1882del						.																																			SO:0001589	frameshift_variant	63897	exon12			.	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1875_1881delTTGGTGG	chr17.hg19:g.58134607_58134613delCCACCAA	ENSP00000184956:p.Asp625fs	102.0	0.0		122.0	49.0	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Frame_Shift_Del	DEL	ENST00000184956.6	hg19	CCDS11623.1																																																																																			.	.		0.527	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	
GMPPB	29925	hgsc.bcm.edu	37	3	49759883	49759883	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-AAEA-01A-11D-A40R-10	TCGA-DD-AAEA-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9570a286-fdf7-4d2c-ad57-ed9e9d7f29ef	7ea301e0-14bb-4e22-8891-42db5e0556e7	g.chr3:49759883delA	ENST00000480687.1	-	7	738	c.622delT	c.(622-624)tatfs	p.Y208fs	GMPPB_ENST00000308375.6_Frame_Shift_Del_p.Y208fs|AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Frame_Shift_Del_p.Y208fs			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	208					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCATGGCATATAGCTGCCCC	0.617																																					p.Y208fs		Atlas-INDEL	.											.	GMPPB	14	.	0			c.623delA						.						95.0	94.0	94.0					3																	49759883		2203	4300	6503	SO:0001589	frameshift_variant	29925	exon6			.	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.622delT	chr3.hg19:g.49759883delA	ENSP00000418565:p.Tyr208fs	73.0	0.0		65.0	25.0	NM_013334	A8K6N5|Q9H7U3	Frame_Shift_Del	DEL	ENST00000480687.1	hg19	CCDS2803.1																																																																																			.	.		0.617	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334	
