#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
ZYG11A	440590	hgsc.bcm.edu	37	1	53352671	53352671	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr1:53352671C>T	ENST00000371528.1	+	13	2198	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	ZYG11A_ENST00000371532.1_Missense_Mutation_p.P342S	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	684										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						CTTCTCTCAACCAGAGGTTCA	0.378																																					p.P684S		Atlas-SNP	.											.	ZYG11A	46	.	0			c.C2050T						.						186.0	145.0	157.0					1																	53352671		692	1591	2283	SO:0001583	missense	440590	exon13			TCTCAACCAGAGG		CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.2050C>T	chr1.hg19:g.53352671C>T	ENSP00000360583:p.Pro684Ser	49.0	0.0		21.0	9.0	NM_001004339	A6NCK5	Missense_Mutation	SNP	ENST00000371528.1	hg19	CCDS44148.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811177	0.70797	.	.	ENSG00000203995	ENST00000371532;ENST00000371528	T;T	0.48201	0.82;0.82	4.98	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.111582	0.64402	D	0.000010	T	0.53981	0.1830	L	0.60845	1.875	0.46564	D	0.999103	P	0.48998	0.918	P	0.52957	0.714	T	0.44862	-0.9300	10	0.24483	T	0.36	-13.8006	14.2798	0.66202	0.0:0.9247:0.0:0.0752	.	684	Q6WRX3	ZY11A_HUMAN	S	342;684	ENSP00000360587:P342S;ENSP00000360583:P684S	ENSP00000360583:P684S	P	+	1	0	ZYG11A	53125259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.485000	0.53208	2.736000	0.93811	0.655000	0.94253	CCA	.	.		0.378	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024856.3	NM_001004339	
FLG	2312	hgsc.bcm.edu	37	1	152285002	152285002	+	Missense_Mutation	SNP	G	G	T	rs77032592	byFrequency	TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr1:152285002G>T	ENST00000368799.1	-	3	2395	c.2360C>A	c.(2359-2361)tCt>tAt	p.S787Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	787	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACGTCGAGACCTTTCCCC	0.562									Ichthyosis																												p.S787Y		Atlas-SNP	.											.	FLG	900	.	0			c.C2360A						.						319.0	304.0	309.0					1																	152285002		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CGTCGAGACCTTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2360C>A	chr1.hg19:g.152285002G>T	ENSP00000357789:p.Ser787Tyr	123.0	0.0		191.0	143.0	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	4.850	0.157990	0.09236	.	.	ENSG00000143631	ENST00000368799	T	0.02280	4.36	2.95	0.716	0.18191	.	.	.	.	.	T	0.03915	0.0110	M	0.82323	2.585	0.09310	N	1	D	0.63046	0.992	P	0.62813	0.907	T	0.28618	-1.0038	9	0.66056	D	0.02	.	5.2187	0.15356	0.0:0.2274:0.54:0.2326	.	787	P20930	FILA_HUMAN	Y	787	ENSP00000357789:S787Y	ENSP00000357789:S787Y	S	-	2	0	FLG	150551626	0.097000	0.21791	0.001000	0.08648	0.029000	0.11900	1.696000	0.37773	0.416000	0.25844	0.479000	0.44913	TCT	.	G|0.988;A|0.012		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
RGSL1	353299	hgsc.bcm.edu	37	1	182499495	182499495	+	Splice_Site	SNP	T	T	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr1:182499495T>G	ENST00000294854.8	+	12	2262	c.2242T>G	c.(2242-2244)Tgg>Ggg	p.W748G	RGSL1_ENST00000456971.2_3'UTR|RGSL1_ENST00000542961.1_Splice_Site_p.W783G	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	748	RGS.				termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						AGAAGAAAAGTGGTGAGTATA	0.418																																					p.W748G	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	Atlas-SNP	.											.	RGSL1	111	.	0			c.T2242G						.						82.0	68.0	72.0					1																	182499495		692	1591	2283	SO:0001630	splice_region_variant	353299	exon12			GAAAAGTGGTGAG	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.2243+1T>G	chr1.hg19:g.182499495T>G		59.0	0.0		152.0	34.0	NM_001137669	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	ENST00000294854.8	hg19	CCDS58049.1																																																																																			.	.		0.418	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	Missense_Mutation
EIF2D	1939	hgsc.bcm.edu	37	1	206775799	206775799	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr1:206775799C>A	ENST00000271764.2	-	7	1001	c.793G>T	c.(793-795)Gat>Tat	p.D265Y	EIF2D_ENST00000367114.3_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	265					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AACAGCTCATCCATTTGTTCT	0.498																																					p.D265Y		Atlas-SNP	.											.	EIF2D	42	.	0			c.G793T						.						154.0	131.0	139.0					1																	206775799		2203	4300	6503	SO:0001583	missense	1939	exon7			GCTCATCCATTTG	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.793G>T	chr1.hg19:g.206775799C>A	ENSP00000271764:p.Asp265Tyr	52.0	0.0		96.0	20.0	NM_006893	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	hg19	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992117	0.93167	.	.	ENSG00000143486	ENST00000271764;ENST00000367111;ENST00000437518	T;T	0.61980	0.06;0.06	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82364	-0.0494	10	0.87932	D	0	-19.9229	19.3123	0.94195	0.0:1.0:0.0:0.0	.	265	P41214	EIF2D_HUMAN	Y	265;237;237	ENSP00000271764:D265Y;ENSP00000394685:D237Y	ENSP00000271764:D265Y	D	-	1	0	EIF2D	204842422	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.786000	0.85741	2.906000	0.99361	0.655000	0.94253	GAT	.	.		0.498	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893	
LAMB3	3914	hgsc.bcm.edu	37	1	209799342	209799342	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr1:209799342C>A	ENST00000356082.4	-	14	1761	c.1627G>T	c.(1627-1629)Ggc>Tgc	p.G543C	LAMB3_ENST00000367030.3_Missense_Mutation_p.G543C|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Missense_Mutation_p.G543C	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	543	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CAGCCCGGGCCCTCTGTTCCC	0.632																																					p.G543C		Atlas-SNP	.											.	LAMB3	136	.	0			c.G1627T						.						24.0	28.0	27.0					1																	209799342		2203	4300	6503	SO:0001583	missense	3914	exon14			CCGGGCCCTCTGT	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1627G>T	chr1.hg19:g.209799342C>A	ENSP00000348384:p.Gly543Cys	102.0	0.0		183.0	44.0	NM_000228	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	hg19	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168245	0.57476	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.62498	0.02;0.02;0.02	5.0	4.09	0.47781	EGF-like, laminin (3);	0.510205	0.22798	N	0.055511	T	0.77592	0.4153	M	0.82923	2.615	0.29345	N	0.865768	D	0.67145	0.996	P	0.62649	0.905	T	0.75286	-0.3371	10	0.59425	D	0.04	.	12.8623	0.57920	0.0:0.9201:0.0:0.0799	.	543	Q13751	LAMB3_HUMAN	C	543	ENSP00000375778:G543C;ENSP00000348384:G543C;ENSP00000355997:G543C	ENSP00000348384:G543C	G	-	1	0	LAMB3	207865965	0.000000	0.05858	0.901000	0.35422	0.685000	0.39939	0.314000	0.19432	1.134000	0.42165	0.456000	0.33151	GGC	.	.		0.632	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
TTC13	79573	hgsc.bcm.edu	37	1	231044767	231044767	+	Splice_Site	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr1:231044767C>T	ENST00000366661.4	-	21	2317		c.e21-1		TTC13_ENST00000366662.4_Splice_Site|TTC13_ENST00000414259.1_Splice_Site	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13											central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGCAATTACACTATTTAAATA	0.408																																					.		Atlas-SNP	.											.	TTC13	74	.	0			c.2148-1G>A						.						95.0	99.0	98.0					1																	231044767		2203	4300	6503	SO:0001630	splice_region_variant	79573	exon20			ATTACACTATTTA		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2310-1G>A	chr1.hg19:g.231044767C>T		78.0	0.0		155.0	11.0	NM_001122835	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Splice_Site	SNP	ENST00000366661.4	hg19	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725231	0.89298	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3045	0.94155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC13	229111390	1.000000	0.71417	0.906000	0.35671	0.964000	0.63967	7.055000	0.76656	2.561000	0.86390	0.609000	0.83330	.	.	.		0.408	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	Intron
PXDN	7837	hgsc.bcm.edu	37	2	1647159	1647159	+	Silent	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr2:1647159C>T	ENST00000252804.4	-	19	3983	c.3933G>A	c.(3931-3933)gtG>gtA	p.V1311V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1311					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGTCCTGCCACACCCGGAGGT	0.607																																					p.V1311V		Atlas-SNP	.											.	PXDN	255	.	0			c.G3933A						.						62.0	71.0	68.0					2																	1647159		2114	4216	6330	SO:0001819	synonymous_variant	7837	exon19			CTGCCACACCCGG	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3933G>A	chr2.hg19:g.1647159C>T		56.0	0.0		58.0	20.0	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	hg19	CCDS46221.1																																																																																			.	.		0.607	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
AFTPH	54812	hgsc.bcm.edu	37	2	64779985	64779985	+	Silent	SNP	C	C	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr2:64779985C>G	ENST00000422803.1	+	2	1691	c.1377C>G	c.(1375-1377)gcC>gcG	p.A459A	AFTPH_ENST00000409933.1_Silent_p.A459A|AFTPH_ENST00000238856.4_Silent_p.A459A|AFTPH_ENST00000238855.7_Silent_p.A459A|AFTPH_ENST00000409183.1_Silent_p.A90A			Q6ULP2	AFTIN_HUMAN	aftiphilin	459					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGAGTGATGCCACTTTTGAAG	0.408																																					p.A459A		Atlas-SNP	.											.	AFTPH	117	.	0			c.C1377G						.						161.0	155.0	157.0					2																	64779985		2203	4300	6503	SO:0001819	synonymous_variant	54812	exon2			TGATGCCACTTTT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1377C>G	chr2.hg19:g.64779985C>G		108.0	0.0		98.0	38.0	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	ENST00000422803.1	hg19																																																																																				.	.		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
TEX37	200523	hgsc.bcm.edu	37	2	88828588	88828588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr2:88828588C>T	ENST00000303254.3	+	4	281	c.139C>T	c.(139-141)Caa>Taa	p.Q47*		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	47						nucleus (GO:0005634)											GCTCGATGCTCAACTCCGGGA	0.488																																					p.Q47X		Atlas-SNP	.											.	.	.	.	0			c.C139T						.						75.0	73.0	74.0					2																	88828588		2203	4300	6503	SO:0001587	stop_gained	200523	exon4			GATGCTCAACTCC	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.139C>T	chr2.hg19:g.88828588C>T	ENSP00000307142:p.Gln47*	295.0	0.0		273.0	134.0	NM_152670		Nonsense_Mutation	SNP	ENST00000303254.3	hg19	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599711	0.46318	.	.	ENSG00000172073	ENST00000303254	.	.	.	4.61	4.61	0.57282	.	0.000000	0.46145	D	0.000315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9811	13.1466	0.59465	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000307142:Q47X	Q	+	1	0	C2orf51	88609703	0.335000	0.24748	0.073000	0.20177	0.184000	0.23303	1.738000	0.38207	2.561000	0.86390	0.462000	0.41574	CAA	.	.		0.488	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670	
GCC2	9648	hgsc.bcm.edu	37	2	109088333	109088333	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr2:109088333A>T	ENST00000309863.6	+	6	3262	c.2548A>T	c.(2548-2550)Ata>Tta	p.I850L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	850					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GTTAGAAGAAATACAGTCAGA	0.353																																					p.I850L		Atlas-SNP	.											.	GCC2	129	.	0			c.A2548T						.						41.0	45.0	44.0					2																	109088333		2198	4298	6496	SO:0001583	missense	9648	exon6			GAAGAAATACAGT	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2548A>T	chr2.hg19:g.109088333A>T	ENSP00000307939:p.Ile850Leu	409.0	0.0		387.0	173.0	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	hg19	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847416	0.32606	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.27256	1.68	5.45	-1.38	0.09027	.	1.158890	0.06206	N	0.684125	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	0.999998	B	0.17465	0.022	B	0.09377	0.004	T	0.29458	-1.0011	10	0.02654	T	1	.	6.6789	0.23110	0.4597:0.0:0.4201:0.1203	.	850	Q8IWJ2	GCC2_HUMAN	L	850;813;594	ENSP00000307939:I850L	ENSP00000307939:I850L	I	+	1	0	GCC2	108454765	0.108000	0.22018	0.673000	0.29887	0.981000	0.71138	0.044000	0.13992	-0.070000	0.12908	0.528000	0.53228	ATA	.	.		0.353	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
TTN	7273	hgsc.bcm.edu	37	2	179426149	179426149	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr2:179426149A>G	ENST00000591111.1	-	276	80011	c.79787T>C	c.(79786-79788)aTt>aCt	p.I26596T	TTN_ENST00000342992.6_Missense_Mutation_p.I25669T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I28237T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I19364T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I19172T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I19297T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26596	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATTTACCAATTCCAGCAAT	0.403																																					p.I28237T		Atlas-SNP	.											.	TTN	18412	.	0			c.T84710C						.						186.0	170.0	175.0					2																	179426149		1900	4141	6041	SO:0001583	missense	7273	exon326			TTACCAATTCCAG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79787T>C	chr2.hg19:g.179426149A>G	ENSP00000465570:p.Ile26596Thr	62.0	0.0		78.0	22.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.08	1.533555	0.27387	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.78	4.62	0.57501	Fibronectin, type III (5);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43322	0.1242	L	0.50993	1.605	0.58432	D	0.999996	B;B;B;B	0.15719	0.014;0.014;0.014;0.014	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.35822	-0.9773	9	0.87932	D	0	.	11.4785	0.50312	0.9298:0.0:0.0702:0.0	.	19172;19297;19364;26596	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25669;19172;19364;19297;19170	ENSP00000343764:I25669T;ENSP00000434586:I19172T;ENSP00000340554:I19364T;ENSP00000352154:I19297T	ENSP00000340554:I19364T	I	-	2	0	TTN	179134395	1.000000	0.71417	0.908000	0.35775	0.932000	0.56968	7.530000	0.81962	1.027000	0.39758	0.397000	0.26171	ATT	.	.		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SPATS2L	26010	hgsc.bcm.edu	37	2	201337678	201337678	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr2:201337678A>G	ENST00000358677.5	+	12	1431	c.1184A>G	c.(1183-1185)aAt>aGt	p.N395S	SPATS2L_ENST00000409718.1_Missense_Mutation_p.N395S|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409755.3_Missense_Mutation_p.N425S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.N335S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.N395S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.N403S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.N395S|SPATS2L_ENST00000409988.3_Missense_Mutation_p.N395S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.N326S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	395						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TCCACTCACAATAAGCCCTCT	0.562																																					p.N395S		Atlas-SNP	.											SPATS2L_ENST00000409755,NS,carcinoma,0,3	SPATS2L	88	.	0			c.A1184G						.						55.0	61.0	59.0					2																	201337678		1975	4150	6125	SO:0001583	missense	26010	exon12			CTCACAATAAGCC	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1184A>G	chr2.hg19:g.201337678A>G	ENSP00000351503:p.Asn395Ser	118.0	0.0		116.0	46.0	NM_001100423	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	hg19	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.420023	0.25552	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.39	-0.175	0.13315	.	0.766887	0.12514	N	0.462277	T	0.22399	0.0540	N	0.14661	0.345	0.26159	N	0.980031	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.15896	-1.0421	9	0.56958	D	0.05	-3.7213	5.6071	0.17385	0.4042:0.3382:0.2576:0.0	.	425;326;395	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	S	395;395;395;335;395;326;395;425;403	.	ENSP00000351503:N395S	N	+	2	0	SPATS2L	201045923	0.307000	0.24500	0.963000	0.40424	0.723000	0.41478	-0.285000	0.08410	-0.145000	0.11294	0.533000	0.62120	AAT	.	.		0.562	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535	
ZDBF2	57683	hgsc.bcm.edu	37	2	207172127	207172127	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr2:207172127G>A	ENST00000374423.3	+	5	3261	c.2875G>A	c.(2875-2877)Gat>Aat	p.D959N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	959							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAGTTTGGATTCTGATGT	0.393																																					p.D959N		Atlas-SNP	.											.	ZDBF2	531	.	0			c.G2875A						.						60.0	60.0	60.0					2																	207172127		1874	4104	5978	SO:0001583	missense	57683	exon5			AGTTTGGATTCTG	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2875G>A	chr2.hg19:g.207172127G>A	ENSP00000363545:p.Asp959Asn	100.0	0.0		133.0	53.0	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666904	0.47677	.	.	ENSG00000204186	ENST00000374423	T	0.53423	0.62	4.28	-6.18	0.02085	.	1.042200	0.07649	N	0.931524	T	0.33644	0.0870	L	0.54323	1.7	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.27297	-1.0078	10	0.38643	T	0.18	.	2.4688	0.04559	0.4796:0.2305:0.1729:0.117	.	959	Q9HCK1	ZDBF2_HUMAN	N	959	ENSP00000363545:D959N	ENSP00000363545:D959N	D	+	1	0	ZDBF2	206880372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.794000	0.04584	-1.577000	0.01650	-0.768000	0.03414	GAT	.	.		0.393	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ABTB1	80325	hgsc.bcm.edu	37	3	127398864	127398864	+	Missense_Mutation	SNP	G	G	A	rs376513209		TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr3:127398864G>A	ENST00000232744.8	+	11	1152	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	ABTB1_ENST00000453791.2_Missense_Mutation_p.A214T|ABTB1_ENST00000393363.3_Missense_Mutation_p.A214T|ABTB1_ENST00000468137.1_Missense_Mutation_p.A214T					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GCTGAGCGTCGCCGACATGTA	0.647																																					p.A356T		Atlas-SNP	.											.	ABTB1	36	.	0			c.G1066A						.	G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	109.0	109.0	109.0		640,1066	4.9	1.0	3		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABTB1	NM_032548.3,NM_172027.2	58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	214/337,356/479	127398864	2,13004	2203	4300	6503	SO:0001583	missense	80325	exon11			AGCGTCGCCGACA	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1066G>A	chr3.hg19:g.127398864G>A	ENSP00000232744:p.Ala356Thr	43.0	0.0		50.0	6.0	NM_172027		Missense_Mutation	SNP	ENST00000232744.8	hg19	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964409	0.74131	2.27E-4	1.16E-4	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.95	4.95	0.65309	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.973;0.966	D	0.89096	0.3486	10	0.87932	D	0	-32.2173	18.1914	0.89808	0.0:0.0:1.0:0.0	.	192;356;331	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	T	192;214;356;214;214	ENSP00000377030:A214T;ENSP00000232744:A356T;ENSP00000412684:A214T;ENSP00000417366:A214T	ENSP00000232744:A356T	A	+	1	0	ABTB1	128881554	1.000000	0.71417	0.982000	0.44146	0.066000	0.16364	9.844000	0.99494	2.289000	0.77006	0.467000	0.42956	GCC	.	.		0.647	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027	
MUC4	4585	hgsc.bcm.edu	37	3	195512929	195512929	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr3:195512929A>T	ENST00000463781.3	-	2	5981	c.5522T>A	c.(5521-5523)cTt>cAt	p.L1841H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1841H|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGACAGGAAGAGAGGTGGT	0.577																																					p.L1841H		Atlas-SNP	.											.	MUC4	1505	.	0			c.T5522A						.						82.0	63.0	69.0					3																	195512929		692	1591	2283	SO:0001583	missense	4585	exon2			ACAGGAAGAGAGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5522T>A	chr3.hg19:g.195512929A>T	ENSP00000417498:p.Leu1841His	443.0	0.0		394.0	58.0	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.277	-0.365696	0.05069	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.53206	0.82;0.63	0.423	-0.846	0.10734	.	0.000000	0.23012	U	0.052950	T	0.24509	0.0594	N	0.19112	0.55	0.09310	N	1	P	0.50156	0.932	B	0.41135	0.348	T	0.27571	-1.0070	9	.	.	.	.	4.073	0.09891	0.647:0.3529:1.0E-4:0.0	.	1841	E7ESK3	.	H	1841	ENSP00000417498:L1841H;ENSP00000420243:L1841H	.	L	-	2	0	MUC4	196997324	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.021000	0.03615	-0.808000	0.04387	0.076000	0.15429	CTT	.	.		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
PCDHA9	9752	hgsc.bcm.edu	37	5	140389296	140389296	+	Missense_Mutation	SNP	C	C	T	rs575518914		TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr5:140389296C>T	ENST00000532602.1	+	4	3660	c.2627C>T	c.(2626-2628)cCc>cTc	p.P876L	PCDHAC1_ENST00000253807.2_Missense_Mutation_p.P889L|PCDHA10_ENST00000307360.5_Missense_Mutation_p.P874L|PCDHA5_ENST00000529859.1_Missense_Mutation_p.P862L|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P612L|PCDHA12_ENST00000398631.2_Missense_Mutation_p.P867L|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P876L|PCDHA8_ENST00000531613.1_Missense_Mutation_p.P876L|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.P933L|PCDHA6_ENST00000529310.1_Missense_Mutation_p.P876L|PCDHA13_ENST00000289272.2_Missense_Mutation_p.P876L|PCDHA2_ENST00000526136.1_Missense_Mutation_p.P874L|PCDHA1_ENST00000504120.2_Missense_Mutation_p.P876L|PCDHA11_ENST00000398640.2_Missense_Mutation_p.P875L|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P873L|PCDHA7_ENST00000525929.1_Missense_Mutation_p.P863L|PCDHA3_ENST00000522353.2_Missense_Mutation_p.P876L|PCDHA4_ENST00000530339.1_Missense_Mutation_p.P873L|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P862L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P612L|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P611L	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	876	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCAACCCCAAACAATCC	0.522																																					p.P933L	Melanoma(55;1800 1972 14909)	Atlas-SNP	.											.	PCDHAC2	142	.	0			c.C2798T						.						70.0	74.0	73.0					5																	140389296		2203	4300	6503	SO:0001583	missense	56134	exon4			GCAACCCCAAACA	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2627C>T	chr5.hg19:g.140389296C>T	ENSP00000436042:p.Pro876Leu	209.0	0.0		194.0	90.0	NM_018899	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218894	0.79464	.	.	ENSG00000204970;ENSG00000204970;ENSG00000204969;ENSG00000255408;ENSG00000204967;ENSG00000204967;ENSG00000204965;ENSG00000204965;ENSG00000081842;ENSG00000081842;ENSG00000204963;ENSG00000204962;ENSG00000204961;ENSG00000250120;ENSG00000250120;ENSG00000249158;ENSG00000251664;ENSG00000239389;ENSG00000239389;ENSG00000248383;ENSG00000243232	ENST00000504120;ENST00000394633;ENST00000526136;ENST00000522353;ENST00000512229;ENST00000530339;ENST00000529619;ENST00000529859;ENST00000529310;ENST00000527624;ENST00000525929;ENST00000531613;ENST00000532602;ENST00000506939;ENST00000307360;ENST00000398640;ENST00000398631;ENST00000409494;ENST00000289272;ENST00000253807;ENST00000289269	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61392	0.47;0.14;0.52;0.5;0.74;0.52;0.66;0.33;0.5;0.11;0.29;0.57;0.55;0.11;0.41;0.49;0.42;0.75;0.63;0.39;0.65	5.77	5.77	0.91146	.	0.000000	0.40302	N	0.001136	T	0.70448	0.3225	L	0.42245	1.32	0.49798	D	0.999824	P;B;D;D;D;D;D;P;P;D;P;P;B;P;D;P;D;D;D;D;D	0.69078	0.651;0.315;0.991;0.957;0.991;0.997;0.997;0.867;0.866;0.991;0.599;0.79;0.057;0.901;0.995;0.701;0.982;0.991;0.997;0.997;0.992	B;B;P;P;P;D;P;P;P;P;B;B;B;P;P;B;P;P;P;D;P	0.65140	0.15;0.109;0.806;0.558;0.806;0.91;0.87;0.463;0.598;0.806;0.206;0.318;0.113;0.627;0.897;0.285;0.852;0.887;0.887;0.932;0.866	T	0.71034	-0.4709	10	0.87932	D	0	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	933;889;876;876;867;875;874;611;876;876;863;876;612;862;862;873;873;876;874;876;612	Q9Y5I4;Q9H158;Q9Y5I0;C9JA99;Q9UN75;Q9Y5I1;Q9Y5I2;Q9Y5I2-2;Q9Y5H5;Q9Y5H6;Q9UN72;Q9UN73;Q9UN73-2;Q9Y5H7;Q9Y5H7-3;Q9UN74;D6RA20;Q9Y5H8;Q9Y5H9;Q9Y5I3;Q9Y5I3-2	PCDC2_HUMAN;PCDC1_HUMAN;PCDAD_HUMAN;.;PCDAC_HUMAN;PCDAB_HUMAN;PCDAA_HUMAN;.;PCDA9_HUMAN;PCDA8_HUMAN;PCDA7_HUMAN;PCDA6_HUMAN;.;PCDA5_HUMAN;.;PCDA4_HUMAN;.;PCDA3_HUMAN;PCDA2_HUMAN;PCDA1_HUMAN;.	L	876;612;874;876;873;873;862;862;876;612;863;876;876;611;874;875;867;876;876;889;933	ENSP00000420840:P876L;ENSP00000378129:P612L;ENSP00000431748:P874L;ENSP00000429808:P876L;ENSP00000423470:P873L;ENSP00000435300:P873L;ENSP00000433416:P862L;ENSP00000436557:P862L;ENSP00000433378:P876L;ENSP00000434113:P612L;ENSP00000436426:P863L;ENSP00000434655:P876L;ENSP00000436042:P876L;ENSP00000421030:P611L;ENSP00000304234:P874L;ENSP00000381636:P875L;ENSP00000381628:P867L;ENSP00000386821:P876L;ENSP00000289272:P876L;ENSP00000253807:P889L;ENSP00000289269:P933L	ENSP00000304234:P874L	P	+	2	0	PCDHA6;PCDHA7;PCDHA8;PCDHA9;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA10;PCDHA11;PCDHA12;PCDHA1;PCDHA13;PCDHAC2;PCDHAC1	140369480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.431000	0.80335	2.884000	0.98904	0.655000	0.94253	CCC	.	.		0.522	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
ZNF853	54753	hgsc.bcm.edu	37	7	6661653	6661653	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr7:6661653G>A	ENST00000457543.3	+	3	1589	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	344	Gln-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						gagttggagcggcagcaggag	0.667																																					p.R344Q		Atlas-SNP	.											.	ZNF853	32	.	0			c.G1031A						.						22.0	28.0	26.0					7																	6661653		692	1591	2283	SO:0001583	missense	54753	exon3			TGGAGCGGCAGCA	AL133055	CCDS59048.1	7p22.1	2013-01-08				ENSG00000236609		"""Zinc fingers, C2H2-type"""	21767	protein-coding gene	gene with protein product							Standard	NM_017560		Approved	DKFZp434J1015	uc011jwz.2	P0CG23		ENST00000457543.3:c.1031G>A	chr7.hg19:g.6661653G>A	ENSP00000455585:p.Arg344Gln	25.0	0.0		30.0	14.0	NM_017560		Missense_Mutation	SNP	ENST00000457543.3	hg19	CCDS59048.1																																																																																			.	.		0.667	ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324169.2	NM_017560	
GIGYF1	64599	hgsc.bcm.edu	37	7	100279816	100279816	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr7:100279816T>C	ENST00000275732.5	-	22	4013	c.2804A>G	c.(2803-2805)tAt>tGt	p.Y935C	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	935					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGGACATCATAGGGGGATTC	0.597																																					p.Y935C		Atlas-SNP	.											.	GIGYF1	113	.	0			c.A2804G						.						74.0	79.0	77.0					7																	100279816		2203	4300	6503	SO:0001583	missense	64599	exon22			ACATCATAGGGGG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2804A>G	chr7.hg19:g.100279816T>C	ENSP00000275732:p.Tyr935Cys	24.0	0.0		25.0	13.0	NM_022574	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	hg19	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	15.43	2.832660	0.50845	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	T	0.76060	-0.99	5.14	5.14	0.70334	.	0.144148	0.48767	D	0.000171	D	0.86117	0.5856	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87372	0.2351	10	0.54805	T	0.06	-8.3937	12.9594	0.58449	0.0:0.0:0.0:1.0	.	935	O75420	PERQ1_HUMAN	C	654;935	ENSP00000275732:Y935C	ENSP00000275732:Y935C	Y	-	2	0	GIGYF1	100117752	1.000000	0.71417	0.964000	0.40570	0.912000	0.54170	5.798000	0.69095	2.159000	0.67721	0.454000	0.30748	TAT	.	.		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574	
STMN4	81551	hgsc.bcm.edu	37	8	27094373	27094373	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr8:27094373G>T	ENST00000265770.7	-	6	696	c.560C>A	c.(559-561)gCc>gAc	p.A187D	STMN4_ENST00000523048.1_3'UTR|STMN4_ENST00000350889.4_Missense_Mutation_p.A214D|STMN4_ENST00000519997.1_3'UTR			Q9H169	STMN4_HUMAN	stathmin-like 4	187	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	TTACCTGGAGGCCTCTTCCTT	0.627																																					p.A214D		Atlas-SNP	.											.	STMN4	28	.	0			c.C641A						.						80.0	67.0	71.0					8																	27094373		2203	4300	6503	SO:0001583	missense	81551	exon7			CTGGAGGCCTCTT		CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.560C>A	chr8.hg19:g.27094373G>T	ENSP00000265770:p.Ala187Asp	64.0	0.0		53.0	22.0	NM_030795	B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	ENST00000265770.7	hg19		.	.	.	.	.	.	.	.	.	.	G	19.70	3.876199	0.72180	.	.	ENSG00000015592	ENST00000350889;ENST00000265770	.	.	.	5.03	5.03	0.67393	.	0.049977	0.85682	D	0.000000	T	0.66896	0.2836	.	.	.	0.80722	D	1	P;D	0.64830	0.7;0.994	B;D	0.66351	0.244;0.943	T	0.59490	-0.7445	8	0.13470	T	0.59	-10.1118	15.8843	0.79232	0.0:0.0:1.0:0.0	.	187;214	Q9H169;Q9H169-2	STMN4_HUMAN;.	D	214;187	.	ENSP00000265770:A187D	A	-	2	0	STMN4	27150290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.598000	0.54038	2.614000	0.88457	0.655000	0.94253	GCC	.	.		0.627	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1	NM_030795	
PLEC	5339	hgsc.bcm.edu	37	8	145003368	145003368	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr8:145003368C>G	ENST00000322810.4	-	25	3743	c.3574G>C	c.(3574-3576)Gag>Cag	p.E1192Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E1082Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1033Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1055Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1078Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1041Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1023Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1055Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1059Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1192	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCGATGGCTCTGGTAGGGCC	0.677																																					p.E1192Q		Atlas-SNP	.											.	PLEC	1144	.	0			c.G3574C						.						11.0	15.0	13.0					8																	145003368		2001	4168	6169	SO:0001583	missense	5339	exon25			ATGGCTCTGGTAG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3574G>C	chr8.hg19:g.145003368C>G	ENSP00000323856:p.Glu1192Gln	71.0	0.0		66.0	18.0	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183235	0.38511	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76709	-1.0;-1.0;-1.04;-1.03;-1.02;-1.0;-1.0;-1.0;-1.0	5.25	5.25	0.73442	.	0.090990	0.44902	U	0.000404	T	0.63402	0.2508	N	0.08118	0	0.39366	D	0.966007	B;B;B;B;B;B;B;B	0.20052	0.041;0.041;0.041;0.024;0.041;0.041;0.041;0.041	B;B;B;B;B;B;B;B	0.20384	0.029;0.029;0.029;0.013;0.029;0.029;0.029;0.029	T	0.60647	-0.7222	10	0.39692	T	0.17	.	18.4442	0.90678	0.0:1.0:0.0:0.0	.	1082;1041;1033;1192;1023;1055;1059;1055	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1055;1059;1055;1023;1192;1033;1041;1082;1078	ENSP00000344848:E1055Q;ENSP00000350277:E1059Q;ENSP00000346602:E1055Q;ENSP00000381756:E1023Q;ENSP00000323856:E1192Q;ENSP00000347044:E1033Q;ENSP00000348702:E1041Q;ENSP00000388180:E1082Q;ENSP00000434583:E1078Q	ENSP00000323856:E1192Q	E	-	1	0	PLEC	145075356	0.996000	0.38824	0.978000	0.43139	0.630000	0.37929	3.030000	0.49720	2.444000	0.82710	0.551000	0.68910	GAG	.	.		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
RHOBTB1	9886	hgsc.bcm.edu	37	10	62637748	62637748	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr10:62637748C>A	ENST00000337910.5	-	8	1981	c.1644G>T	c.(1642-1644)ttG>ttT	p.L548F	RHOBTB1_ENST00000490827.1_5'Flank|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.L548F	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	548	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGTTAGGAGACAACTGCTTGG	0.413																																					p.L548F		Atlas-SNP	.											.	RHOBTB1	61	.	0			c.G1644T						.						134.0	125.0	128.0					10																	62637748		2203	4300	6503	SO:0001583	missense	9886	exon8			AGGAGACAACTGC	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1644G>T	chr10.hg19:g.62637748C>A	ENSP00000338671:p.Leu548Phe	129.0	0.0		90.0	75.0	NM_014836		Missense_Mutation	SNP	ENST00000337910.5	hg19	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.083977	0.36758	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.71579	-0.58;-0.58	6.17	6.17	0.99709	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000013	T	0.61912	0.2385	L	0.39326	1.205	0.58432	D	0.999996	B	0.16603	0.018	B	0.25405	0.06	T	0.54337	-0.8309	10	0.22109	T	0.4	.	12.1306	0.53940	0.0:0.8119:0.1221:0.066	.	548	O94844	RHBT1_HUMAN	F	548	ENSP00000350595:L548F;ENSP00000338671:L548F	ENSP00000338671:L548F	L	-	3	2	RHOBTB1	62307754	0.988000	0.35896	1.000000	0.80357	0.971000	0.66376	0.325000	0.19628	2.941000	0.99782	0.655000	0.94253	TTG	.	.		0.413	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1		
BTAF1	9044	hgsc.bcm.edu	37	10	93699785	93699785	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr10:93699785A>T	ENST00000265990.6	+	3	523	c.215A>T	c.(214-216)aAt>aTt	p.N72I		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	72					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATAGTGAAAAATGTACCTGAG	0.338																																					p.N72I		Atlas-SNP	.											.	BTAF1	148	.	0			c.A215T						.						66.0	68.0	67.0					10																	93699785		2203	4300	6503	SO:0001583	missense	9044	exon3			TGAAAAATGTACC	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.215A>T	chr10.hg19:g.93699785A>T	ENSP00000265990:p.Asn72Ile	157.0	0.0		94.0	81.0	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	hg19	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747275	0.89663	.	.	ENSG00000095564	ENST00000265990	D	0.91237	-2.81	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94689	0.8287	M	0.78456	2.415	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	D	0.94822	0.7988	10	0.52906	T	0.07	-4.2471	15.4551	0.75308	1.0:0.0:0.0:0.0	.	72	O14981	BTAF1_HUMAN	I	72	ENSP00000265990:N72I	ENSP00000265990:N72I	N	+	2	0	BTAF1	93689765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.164000	0.94755	2.063000	0.61619	0.533000	0.62120	AAT	.	.		0.338	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
SEC23IP	11196	hgsc.bcm.edu	37	10	121677401	121677401	+	Missense_Mutation	SNP	A	A	T	rs371628667		TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr10:121677401A>T	ENST00000369075.3	+	9	1670	c.1598A>T	c.(1597-1599)aAt>aTt	p.N533I	SEC23IP_ENST00000543134.1_Missense_Mutation_p.N322I	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	533					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACTTTACCAATGAAACTTTG	0.343																																					p.N533I		Atlas-SNP	.											.	SEC23IP	100	.	0			c.A1598T						.						54.0	57.0	56.0					10																	121677401		2203	4300	6503	SO:0001583	missense	11196	exon9			TTACCAATGAAAC	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1598A>T	chr10.hg19:g.121677401A>T	ENSP00000358071:p.Asn533Ile	99.0	0.0		52.0	40.0	NM_007190	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	hg19	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702532	0.88924	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.60424	0.19;0.19	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87762	0.2599	10	0.87932	D	0	-28.7726	15.5763	0.76392	1.0:0.0:0.0:0.0	.	322;533	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	I	533;322	ENSP00000358071:N533I;ENSP00000438773:N322I	ENSP00000358071:N533I	N	+	2	0	SEC23IP	121667391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.071000	0.93980	2.139000	0.66308	0.533000	0.62120	AAT	.	.		0.343	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
C10orf90	118611	hgsc.bcm.edu	37	10	128153427	128153427	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr10:128153427C>T	ENST00000284694.7	-	4	1492	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	C10orf90_ENST00000544758.1_Missense_Mutation_p.D555N|C10orf90_ENST00000356858.3_Missense_Mutation_p.D411N|C10orf90_ENST00000480379.1_5'Flank|C10orf90_ENST00000454341.1_Intron	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	458					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGACAGTCATCGCTTGGAGAG	0.488																																					p.D458N		Atlas-SNP	.											.	C10orf90	121	.	0			c.G1372A						.						114.0	110.0	111.0					10																	128153427		2203	4300	6503	SO:0001583	missense	118611	exon4			AGTCATCGCTTGG	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1372G>A	chr10.hg19:g.128153427C>T	ENSP00000284694:p.Asp458Asn	130.0	0.0		83.0	61.0	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	hg19	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449358	0.01080	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642	T;T;T	0.17854	2.25;2.25;2.25	4.44	1.36	0.22044	.	0.995724	0.08138	N	0.992091	T	0.04952	0.0133	N	0.02539	-0.55	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.004;0.002	T	0.39643	-0.9604	10	0.02654	T	1	-0.2384	3.4459	0.07481	0.0:0.3332:0.2417:0.4251	.	555;458	F5GZL2;Q96M02	.;CJ090_HUMAN	N	411;458;555;458	ENSP00000284694:D458N;ENSP00000444369:D555N;ENSP00000405995:D458N	ENSP00000284694:D458N	D	-	1	0	C10orf90	128143417	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.094000	0.11094	0.075000	0.16796	0.637000	0.83480	GAT	.	.		0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
DCHS1	8642	hgsc.bcm.edu	37	11	6643315	6643315	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr11:6643315G>A	ENST00000299441.3	-	21	10003	c.9592C>T	c.(9592-9594)Cgt>Tgt	p.R3198C	TPP1_ENST00000534644.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000533371.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3198					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)		GGGTCGATACGGGGAGCTGGG	0.637																																					p.R3198C		Atlas-SNP	.											.	DCHS1	277	.	0			c.C9592T						.						45.0	50.0	48.0					11																	6643315		2201	4296	6497	SO:0001583	missense	8642	exon21			CGATACGGGGAGC	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.9592C>T	chr11.hg19:g.6643315G>A	ENSP00000299441:p.Arg3198Cys	42.0	0.0		31.0	16.0	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973264	0.53614	.	.	ENSG00000166341	ENST00000299441	T	0.56444	0.46	4.88	4.88	0.63580	.	0.000000	0.43260	D	0.000597	T	0.63792	0.2541	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.67090	-0.5758	10	0.87932	D	0	.	16.7719	0.85539	0.0:0.0:1.0:0.0	.	3198	Q96JQ0	PCD16_HUMAN	C	3198	ENSP00000299441:R3198C	ENSP00000299441:R3198C	R	-	1	0	DCHS1	6599891	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.760000	0.62235	2.531000	0.85337	0.313000	0.20887	CGT	.	.		0.637	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
CELF1	10658	hgsc.bcm.edu	37	11	47506044	47506044	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr11:47506044C>A	ENST00000358597.3	-	4	341	c.342G>T	c.(340-342)atG>atT	p.M114I	CELF1_ENST00000531165.1_Missense_Mutation_p.M141I|CELF1_ENST00000361904.3_Missense_Mutation_p.M114I|CELF1_ENST00000395292.2_Missense_Mutation_p.M114I|CELF1_ENST00000310513.5_Missense_Mutation_p.M114I|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000395290.2_Missense_Mutation_p.M113I|CELF1_ENST00000532048.1_Missense_Mutation_p.M140I			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	114	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TCTTGGAAATCATACCAATAA	0.433																																					p.M140I	Pancreas(163;1949 1966 9906 43218 43785)	Atlas-SNP	.											.	CELF1	43	.	0			c.G420T						.						96.0	98.0	97.0					11																	47506044		2201	4298	6499	SO:0001583	missense	10658	exon7			GGAAATCATACCA	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.342G>T	chr11.hg19:g.47506044C>A	ENSP00000351409:p.Met114Ile	178.0	0.0		184.0	78.0	NM_001172639	B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	hg19	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251644	0.80135	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38;3.38	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	L	0.47716	1.5	0.80722	D	1	B;B;P;P;B;P	0.36222	0.001;0.06;0.488;0.488;0.015;0.544	B;B;B;B;B;P	0.47891	0.004;0.071;0.424;0.424;0.061;0.56	T	0.00313	-1.1825	10	0.87932	D	0	-11.6269	20.0118	0.97458	0.0:1.0:0.0:0.0	.	113;141;140;114;114;114	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	I	113;114;114;114;114;141;140	ENSP00000378705:M113I;ENSP00000351409:M114I;ENSP00000378706:M114I;ENSP00000308386:M114I;ENSP00000354639:M114I;ENSP00000436864:M141I;ENSP00000435926:M140I	ENSP00000308386:M114I	M	-	3	0	CELF1	47462620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.767000	0.85331	2.742000	0.94016	0.650000	0.86243	ATG	.	.		0.433	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560	
TUT1	64852	hgsc.bcm.edu	37	11	62343081	62343081	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr11:62343081C>T	ENST00000476907.1	-	9	2801	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000329251.4_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.A742T			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	704					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTCTGCATGGCCCAGTCCTGC	0.632																																					p.A742T		Atlas-SNP	.											.	TUT1	122	.	0			c.G2224A						.						244.0	232.0	236.0					11																	62343081		2202	4299	6501	SO:0001583	missense	64852	exon9			GCATGGCCCAGTC	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2110G>A	chr11.hg19:g.62343081C>T	ENSP00000419607:p.Ala704Thr	62.0	0.0		126.0	31.0	NM_022830	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.459	1.092687	0.20471	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.41400	1.0;1.03	5.1	4.2	0.49525	.	0.565316	0.18533	N	0.138424	T	0.30417	0.0764	L	0.27053	0.805	0.20563	N	0.999887	B;B	0.18610	0.015;0.029	B;B	0.17098	0.017;0.011	T	0.18272	-1.0342	10	0.41790	T	0.15	-8.005	11.3336	0.49490	0.0:0.9126:0.0:0.0874	.	704;742	Q9H6E5;F5H0R1	STPAP_HUMAN;.	T	742;704	ENSP00000308000:A742T;ENSP00000419607:A704T	ENSP00000308000:A742T	A	-	1	0	TUT1	62099657	0.005000	0.15991	0.946000	0.38457	0.160000	0.22226	0.729000	0.26028	1.398000	0.46701	-0.136000	0.14681	GCC	.	.		0.632	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830	
SIPA1	6494	hgsc.bcm.edu	37	11	65414996	65414996	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr11:65414996G>A	ENST00000394224.3	+	9	2469	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R	MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.G725R|SIPA1_ENST00000527525.1_Missense_Mutation_p.G623R|SIPA1_ENST00000394227.3_Missense_Mutation_p.G623R	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	725	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCTGCGGCCCGGGGCGCGCCT	0.746																																					p.G725R		Atlas-SNP	.											.	SIPA1	45	.	0			c.G2173A						.						4.0	4.0	4.0					11																	65414996		1748	3420	5168	SO:0001583	missense	6494	exon9			CGGCCCGGGGCGC	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2173G>A	chr11.hg19:g.65414996G>A	ENSP00000377771:p.Gly725Arg	7.0	0.0		17.0	11.0	NM_006747	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	hg19	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683105	0.88542	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.09	3.16	0.36331	PDZ/DHR/GLGF (4);	0.108513	0.40064	U	0.001190	T	0.53110	0.1776	M	0.64170	1.965	0.32413	N	0.550449	B;B	0.26041	0.14;0.074	B;B	0.25987	0.026;0.065	T	0.62941	-0.6747	10	0.87932	D	0	-19.7828	10.2141	0.43158	0.1029:0.0:0.8971:0.0	.	623;725	F6RY50;Q96FS4	.;SIPA1_HUMAN	R	725;623;725;623	ENSP00000436269:G725R;ENSP00000433686:G623R;ENSP00000377771:G725R;ENSP00000377774:G623R	ENSP00000377771:G725R	G	+	1	0	SIPA1	65171572	1.000000	0.71417	0.992000	0.48379	0.818000	0.46254	4.980000	0.63812	0.833000	0.34828	0.297000	0.19635	GGG	.	.		0.746	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747	
PPP2R1B	5519	hgsc.bcm.edu	37	11	111622945	111622945	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr11:111622945C>G	ENST00000527614.1	-	10	1341	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	PPP2R1B_ENST00000427203.2_Missense_Mutation_p.D265H|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.D299H|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.D381H|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.D362H|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.D426H	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	426					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CATTTGGCATCTTCTGCCAGC	0.502																																					p.D426H		Atlas-SNP	.											.	PPP2R1B	44	.	0			c.G1276C						.						121.0	110.0	114.0					11																	111622945		2201	4297	6498	SO:0001583	missense	5519	exon10			TGGCATCTTCTGC	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1276G>C	chr11.hg19:g.111622945C>G	ENSP00000437193:p.Asp426His	130.0	0.0		72.0	58.0	NM_002716	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	hg19	CCDS8349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.569155|4.569155	0.86439|0.86439	.|.	.|.	ENSG00000137713|ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055|ENST00000531890	T;T;T;T;T;T|.	0.40225|.	1.6;1.6;1.6;1.6;1.04;1.6|.	5.71|5.71	4.8|4.8	0.61643|0.61643	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87838|0.87838	0.6278|0.6278	H|H	0.97415|0.97415	4|4	0.80722|0.80722	D|D	1|1	D;D;D;D;P;P|.	0.89917|.	1.0;0.999;0.957;1.0;0.873;0.938|.	D;D;P;D;P;D|.	0.97110|.	0.993;0.979;0.679;1.0;0.835;0.919|.	D|D	0.91895|0.91895	0.5527|0.5527	10|5	0.87932|.	D|.	0|.	-22.0496|-22.0496	14.2082|14.2082	0.65748|0.65748	0.1507:0.8493:0.0:0.0|0.1507:0.8493:0.0:0.0	.|.	299;381;265;362;426;426|.	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2|.	.;.;.;.;2AAB_HUMAN;.|.	H|T	426;299;362;426;265;381;299|126	ENSP00000311344:D426H;ENSP00000410671:D362H;ENSP00000437193:D426H;ENSP00000415759:D265H;ENSP00000343317:D381H;ENSP00000376775:D299H|.	ENSP00000311344:D426H|.	D|R	-|-	1|2	0|0	PPP2R1B|PPP2R1B	111128155|111128155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.794000|5.794000	0.69067|0.69067	1.531000|1.531000	0.49152|0.49152	0.643000|0.643000	0.83706|0.83706	GAT|AGA	.	.		0.502	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	
KCNA6	3742	hgsc.bcm.edu	37	12	4920655	4920655	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr12:4920655G>C	ENST00000280684.3	+	1	2314	c.1448G>C	c.(1447-1449)gGg>gCg	p.G483A	KCNA6_ENST00000433855.1_Missense_Mutation_p.G483A|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	483					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GTCACTTGTGGGCAGCCTGCG	0.602										HNSCC(72;0.22)																											p.G483A		Atlas-SNP	.											.	KCNA6	122	.	0			c.G1448C						.						110.0	106.0	107.0					12																	4920655		2203	4300	6503	SO:0001583	missense	3742	exon1			CTTGTGGGCAGCC	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1448G>C	chr12.hg19:g.4920655G>C	ENSP00000280684:p.Gly483Ala	80.0	0.0		69.0	30.0	NM_002235		Missense_Mutation	SNP	ENST00000280684.3	hg19	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	3.364	-0.129935	0.06753	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97328	-4.34;-4.34	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.94125	0.8116	L	0.44542	1.39	0.41768	D	0.98975	B	0.18610	0.029	B	0.12837	0.008	D	0.91268	0.5042	10	0.07813	T	0.8	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	483	P17658	KCNA6_HUMAN	A	483	ENSP00000408321:G483A;ENSP00000280684:G483A	ENSP00000280684:G483A	G	+	2	0	KCNA6	4790916	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.244000	0.78228	2.641000	0.89580	0.591000	0.81541	GGG	.	.		0.602	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235	
SLCO1B1	10599	hgsc.bcm.edu	37	12	21353510	21353510	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr12:21353510T>G	ENST00000256958.2	+	9	1135	c.1039T>G	c.(1039-1041)Tta>Gta	p.L347V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	347					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTGACGTTGTTACAAGTAAG	0.328																																					p.L347V		Atlas-SNP	.											.	SLCO1B1	151	.	0			c.T1039G						.						119.0	108.0	112.0					12																	21353510		2202	4299	6501	SO:0001583	missense	10599	exon9			ACGTTGTTACAAG		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1039T>G	chr12.hg19:g.21353510T>G	ENSP00000256958:p.Leu347Val	98.0	0.0		88.0	41.0	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	hg19	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	3.845	-0.032961	0.07543	.	.	ENSG00000134538	ENST00000256958	T	0.61392	0.11	3.34	-0.296	0.12824	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.594341	0.16545	N	0.209747	T	0.44973	0.1319	L	0.57536	1.79	0.09310	N	1	B	0.16396	0.017	B	0.26864	0.074	T	0.30679	-0.9970	10	0.22109	T	0.4	.	2.5553	0.04758	0.3729:0.3427:0.0:0.2844	.	347	Q9Y6L6	SO1B1_HUMAN	V	347	ENSP00000256958:L347V	ENSP00000256958:L347V	L	+	1	2	SLCO1B1	21244777	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.046000	0.03525	-0.209000	0.10156	0.402000	0.26972	TTA	.	.		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
COL2A1	1280	hgsc.bcm.edu	37	12	48373812	48373812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr12:48373812G>A	ENST00000380518.3	-	40	2823	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	COL2A1_ENST00000337299.6_Nonsense_Mutation_p.R818*|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	887	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGCACCTCGGGCTCCTTTA	0.642																																					p.R887X		Atlas-SNP	.											.	COL2A1	368	.	0			c.C2659T	GRCh37	CM062564	COL2A1	M		.						16.0	15.0	15.0					12																	48373812		2155	4233	6388	SO:0001587	stop_gained	1280	exon40			CACCTCGGGCTCC	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2659C>T	chr12.hg19:g.48373812G>A	ENSP00000369889:p.Arg887*	170.0	0.0		184.0	85.0	NM_001844	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Nonsense_Mutation	SNP	ENST00000380518.3	hg19	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	42	9.591689	0.99214	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	.	.	.	4.99	4.09	0.47781	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3633	0.66787	0.0:0.0:0.8506:0.1494	.	.	.	.	X	887;818;818	.	ENSP00000338213:R818X	R	-	1	2	COL2A1	46660079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.561000	0.67339	1.080000	0.41073	0.462000	0.41574	CGA	.	.		0.642	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
OR2AP1	121129	hgsc.bcm.edu	37	12	55968693	55968693	+	Silent	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr12:55968693C>T	ENST00000321688.1	+	1	495	c.495C>T	c.(493-495)gaC>gaT	p.D165D	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001258285.1	NP_001245214.1	Q8NGE2	O2AP1_HUMAN	olfactory receptor, family 2, subfamily AP, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)|ovary(1)	3						GTCAGCAGGACTTTTGTGCAT	0.458																																					p.D165D		Atlas-SNP	.											.	OR2AP1	11	.	0			c.C495T						.																																			SO:0001819	synonymous_variant	121129	exon1			GCAGGACTTTTGT	BK004260	CCDS58241.1	12q13.2	2012-08-09	2004-12-10	2004-03-10	ENSG00000179615	ENSG00000179615		"""GPCR / Class A : Olfactory receptors"""	15335	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AP, member 1 pseudogene"""	OR2AP1P			Standard	NM_001258285		Approved		uc031qhr.1	Q8NGE2	OTTHUMG00000169960	ENST00000321688.1:c.495C>T	chr12.hg19:g.55968693C>T		2.0	0.0		7.0	4.0	NM_001258285		Silent	SNP	ENST00000321688.1	hg19	CCDS58241.1																																																																																			.	.		0.458	OR2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406679.1		
AGAP2	116986	hgsc.bcm.edu	37	12	58131312	58131312	+	Missense_Mutation	SNP	C	C	T	rs561812307		TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr12:58131312C>T	ENST00000547588.1	-	1	717	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	240					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						gcggcggcggcggtggcggcg	0.706																																					p.A240T		Atlas-SNP	.											AGAP2_ENST00000547588,NS,carcinoma,0,1	AGAP2	167	.	0			c.G718A						.						4.0	6.0	5.0					12																	58131312		1428	3301	4729	SO:0001583	missense	116986	exon1			CGGCGGCGGTGGC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.718G>A	chr12.hg19:g.58131312C>T	ENSP00000449241:p.Ala240Thr	75.0	0.0		66.0	4.0	NM_001122772	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	hg19	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.24|10.24	1.294811|1.294811	0.23564|0.23564	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000547588|ENST00000328568	T|.	0.39997|.	1.05|.	3.81|3.81	-1.14|-1.14	0.09741|0.09741	.|.	1.354790|.	0.05448|.	N|.	0.548952|.	T|T	0.10508|0.10508	0.0257|0.0257	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.14012|.	0.009;0.005|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.24548|0.24548	-1.0157|-1.0157	10|5	0.56958|.	D|.	0.05|.	.|.	0.5619|0.5619	0.00680|0.00680	0.1874:0.3561:0.184:0.2724|0.1874:0.3561:0.184:0.2724	.|.	240;240|.	F8VVT9;Q99490|.	.;AGAP2_HUMAN|.	T|H	240|103	ENSP00000449241:A240T|.	ENSP00000449241:A240T|.	A|R	-|-	1|2	0|0	AGAP2|AGAP2	56417579|56417579	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.086000|0.086000	0.14935|0.14935	-0.555000|-0.555000	0.06142|0.06142	0.455000|0.455000	0.32223|0.32223	GCC|CGC	.	.		0.706	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
CUX2	23316	hgsc.bcm.edu	37	12	111471987	111471987	+	Silent	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr12:111471987C>T	ENST00000261726.6	+	1	160	c.6C>T	c.(4-6)gcC>gcT	p.A2A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	2					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCAAGATGGCCGCCAATGTGG	0.622																																					p.A2A		Atlas-SNP	.											.	CUX2	145	.	0			c.C6T						.						65.0	71.0	69.0					12																	111471987		2203	4300	6503	SO:0001819	synonymous_variant	23316	exon1			GATGGCCGCCAAT	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.6C>T	chr12.hg19:g.111471987C>T		71.0	0.0		60.0	52.0	NM_015267	A7E2Y4	Silent	SNP	ENST00000261726.6	hg19	CCDS41837.1																																																																																			.	.		0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
SKA3	221150	hgsc.bcm.edu	37	13	21742126	21742126	+	Splice_Site	SNP	C	C	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr13:21742126C>A	ENST00000314759.5	-	4	868		c.e4+1		SKA3_ENST00000400018.3_Splice_Site	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGCTGCTTACCTTTTATTAT	0.284																																					.		Atlas-SNP	.											.	SKA3	76	.	0			c.743+1G>T						.						63.0	58.0	60.0					13																	21742126		2203	4297	6500	SO:0001630	splice_region_variant	221150	exon5			TGCTTACCTTTTA	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.743+1G>T	chr13.hg19:g.21742126C>A		72.0	0.0		53.0	8.0	NM_001166017	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Splice_Site	SNP	ENST00000314759.5	hg19	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052163	0.36181	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6803	0.77364	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SKA3	20640126	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	4.395000	0.59678	2.777000	0.95525	0.655000	0.94253	.	.	.		0.284	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061	Intron
SYNE2	23224	hgsc.bcm.edu	37	14	64686099	64686099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr14:64686099G>T	ENST00000344113.4	+	109	19974	c.19762G>T	c.(19762-19764)Gaa>Taa	p.E6588*	SYNE2_ENST00000554805.1_Nonsense_Mutation_p.E371*|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E3245*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E6611*|SYNE2_ENST00000357395.3_Nonsense_Mutation_p.E2973*|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.E2973*|SYNE2_ENST00000555022.1_Nonsense_Mutation_p.E466*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E6504*|SYNE2_ENST00000441438.2_Nonsense_Mutation_p.E119*|SYNE2_ENST00000458046.2_Nonsense_Mutation_p.E245*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6588					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATATCCAGGAAATAGAACT	0.473																																					p.E6611X		Atlas-SNP	.											.	SYNE2	577	.	0			c.G19831T						.						75.0	71.0	73.0					14																	64686099		2203	4300	6503	SO:0001587	stop_gained	23224	exon110			ATCCAGGAAATAG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19762G>T	chr14.hg19:g.64686099G>T	ENSP00000341781:p.Glu6588*	136.0	0.0		171.0	79.0	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	57	30.002811	0.99976	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	.	.	.	5.53	5.53	0.82687	.	0.132141	0.33610	N	0.004734	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.4629	0.94924	0.0:0.0:1.0:0.0	.	.	.	.	X	6611;2973;6588;6504;6510;3245;2973;466;371;245;119	.	ENSP00000261678:E6510X	E	+	1	0	SYNE2	63755852	0.019000	0.18553	0.950000	0.38849	0.337000	0.28794	1.166000	0.31834	2.600000	0.87896	0.655000	0.94253	GAA	.	.		0.473	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
HDC	3067	hgsc.bcm.edu	37	15	50535066	50535066	+	Silent	SNP	G	G	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr15:50535066G>A	ENST00000267845.3	-	12	1782	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Silent_p.I427I	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AGTCTCTCAGGATGTCATCCC	0.517																																					p.I460I	GBM(95;1627 1936 6910 9570)	Atlas-SNP	.											.	HDC	86	.	0			c.C1380T						.						41.0	46.0	44.0					15																	50535066		2195	4294	6489	SO:0001819	synonymous_variant	3067	exon12			TCTCAGGATGTCA		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1380C>T	chr15.hg19:g.50535066G>A		97.0	0.0		96.0	8.0	NM_002112		Silent	SNP	ENST00000267845.3	hg19	CCDS10134.1																																																																																			.	.		0.517	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
VPS13C	54832	hgsc.bcm.edu	37	15	62207992	62207992	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr15:62207992C>T	ENST00000261517.5	-	61	8358	c.8285G>A	c.(8284-8286)aGc>aAc	p.S2762N	VPS13C_ENST00000395896.4_Missense_Mutation_p.S2762N|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2719N|VPS13C_ENST00000395898.3_Missense_Mutation_p.S2719N|RN7SL613P_ENST00000584412.1_RNA	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CACCATCCGGCTGCCAATTCT	0.458																																					p.S2762N		Atlas-SNP	.											.	VPS13C	506	.	0			c.G8285A						.						87.0	82.0	84.0					15																	62207992		2203	4300	6503	SO:0001583	missense	54832	exon61			ATCCGGCTGCCAA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8285G>A	chr15.hg19:g.62207992C>T	ENSP00000261517:p.Ser2762Asn	127.0	0.0		106.0	8.0	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871888	0.33069	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.47528	0.84;0.84;1.01	5.54	3.64	0.41730	.	0.353649	0.37761	N	0.001942	T	0.35828	0.0945	L	0.40543	1.245	0.33127	D	0.542626	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0	B;B;B;B;B	0.15870	0.009;0.009;0.014;0.009;0.006	T	0.40136	-0.9579	10	0.54805	T	0.06	.	6.7102	0.23272	0.145:0.7098:0.0:0.1452	.	2762;2719;2762;2719;2762	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	N	2719;2762;2762;2762	ENSP00000249837:S2719N;ENSP00000261517:S2762N;ENSP00000379233:S2762N	ENSP00000249837:S2719N	S	-	2	0	VPS13C	59995284	0.996000	0.38824	0.928000	0.36995	0.523000	0.34469	2.498000	0.45363	0.667000	0.31107	0.557000	0.71058	AGC	.	.		0.458	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
HERC1	8925	hgsc.bcm.edu	37	15	64067763	64067763	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr15:64067763C>A	ENST00000443617.2	-	2	147	c.60G>T	c.(58-60)tgG>tgT	p.W20C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	20					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTCTGTAATCCAGGAGCTGT	0.433																																					p.W20C		Atlas-SNP	.											.	HERC1	624	.	0			c.G60T						.						120.0	116.0	117.0					15																	64067763		1915	4141	6056	SO:0001583	missense	8925	exon2			TGTAATCCAGGAG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.60G>T	chr15.hg19:g.64067763C>A	ENSP00000390158:p.Trp20Cys	124.0	0.0		124.0	58.0	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468098	0.43839	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.00520	6.85	5.65	4.72	0.59763	.	0.000000	0.64402	U	0.000001	T	0.01661	0.0053	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.992	D;D;P	0.81914	0.947;0.995;0.707	T	0.64219	-0.6459	10	0.87932	D	0	.	16.4755	0.84131	0.0:0.8687:0.1313:0.0	.	20;20;20	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	C	20	ENSP00000390158:W20C	ENSP00000389613:W20C	W	-	3	0	HERC1	61854816	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.762000	0.85270	1.336000	0.45506	0.561000	0.74099	TGG	.	.		0.433	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
MYH2	4620	hgsc.bcm.edu	37	17	10447311	10447311	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr17:10447311T>G	ENST00000245503.5	-	7	940	c.556A>C	c.(556-558)Act>Cct	p.T186P	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.T186P|MYH2_ENST00000397183.2_Missense_Mutation_p.T186P	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	186	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTGTTCACAGTCTTCCCTGCA	0.413																																					p.T186P		Atlas-SNP	.											.	MYH2	390	.	0			c.A556C						.						133.0	121.0	125.0					17																	10447311		2203	4300	6503	SO:0001583	missense	4620	exon7			TCACAGTCTTCCC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.556A>C	chr17.hg19:g.10447311T>G	ENSP00000245503:p.Thr186Pro	136.0	0.0		96.0	78.0	NM_017534	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	hg19	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573356	0.45902	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.84146	-1.81;-1.81;-1.81	4.76	4.76	0.60689	Myosin head, motor domain (3);	0.000000	0.40385	U	0.001103	D	0.96074	0.8721	H	0.99800	4.79	0.80722	D	1	D;B	0.67145	0.996;0.004	D;B	0.87578	0.998;0.217	D	0.97498	1.0058	10	0.72032	D	0.01	.	13.6203	0.62134	0.0:0.0:0.0:1.0	.	186;186	Q567P6;Q9UKX2	.;MYH2_HUMAN	P	186	ENSP00000433944:T186P;ENSP00000245503:T186P;ENSP00000380367:T186P	ENSP00000245503:T186P	T	-	1	0	MYH2	10388036	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	2.001000	0.58596	0.533000	0.62120	ACT	.	.		0.413	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
NCOR1	9611	hgsc.bcm.edu	37	17	16042476	16042476	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr17:16042476G>A	ENST00000268712.3	-	12	1455	c.1198C>T	c.(1198-1200)Ctc>Ttc	p.L400F	NCOR1_ENST00000395851.1_Missense_Mutation_p.L400F|RNU6-862P_ENST00000362804.1_RNA|NCOR1_ENST00000395848.1_Missense_Mutation_p.L291F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	400					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATCACAGAGAGCTGCCGCATT	0.358																																					p.L400F		Atlas-SNP	.											.	NCOR1	240	.	0			c.C1198T						.						57.0	54.0	55.0					17																	16042476		2203	4300	6503	SO:0001583	missense	9611	exon11			CAGAGAGCTGCCG	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1198C>T	chr17.hg19:g.16042476G>A	ENSP00000268712:p.Leu400Phe	255.0	0.0		138.0	106.0	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071784	0.36566	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;0.998;0.963;0.996;1.0	D;D;D;P;D;D	0.91635	0.946;0.973;0.973;0.849;0.973;0.999	D	0.88234	0.2905	10	0.66056	D	0.02	-6.8873	18.1509	0.89674	0.0:0.0:1.0:0.0	.	409;400;400;291;400;400	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	F	400;400;291;409;291;400;409	ENSP00000268712:L400F;ENSP00000379192:L400F;ENSP00000379189:L291F;ENSP00000407998:L400F;ENSP00000387727:L409F	ENSP00000268712:L400F	L	-	1	0	NCOR1	15983201	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.703000	0.74633	2.515000	0.84797	0.655000	0.94253	CTC	.	.		0.358	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
RAI1	10743	hgsc.bcm.edu	37	17	17700212	17700212	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr17:17700212A>G	ENST00000353383.1	+	3	4419	c.3950A>G	c.(3949-3951)aAg>aGg	p.K1317R	RAI1_ENST00000261641.6_Missense_Mutation_p.K1317R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1317					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ATGAAGACCAAGGTGCTGCCA	0.657																																					p.K1317R		Atlas-SNP	.											.	RAI1	121	.	0			c.A3950G						.						51.0	62.0	58.0					17																	17700212		2203	4300	6503	SO:0001583	missense	10743	exon3			AGACCAAGGTGCT	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3950A>G	chr17.hg19:g.17700212A>G	ENSP00000323074:p.Lys1317Arg	56.0	0.0		40.0	33.0	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810368	0.70797	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	D;T	0.85088	-1.94;-1.46	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000009	D	0.90950	0.7155	M	0.70275	2.135	0.38225	D	0.94087	D	0.69078	0.997	D	0.75020	0.985	D	0.92980	0.6405	10	0.72032	D	0.01	.	13.8441	0.63457	1.0:0.0:0.0:0.0	.	1317	Q7Z5J4	RAI1_HUMAN	R	1317;1317;1317;1269	ENSP00000323074:K1317R;ENSP00000261641:K1317R	ENSP00000261641:K1317R	K	+	2	0	RAI1	17640937	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.099000	0.89542	1.866000	0.54105	0.260000	0.18958	AAG	.	.		0.657	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
LOXHD1	125336	hgsc.bcm.edu	37	18	44229147	44229147	+	Silent	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr18:44229147C>T	ENST00000441551.2	-	2	215	c.216G>A	c.(214-216)ggG>ggA	p.G72G	LOXHD1_ENST00000536736.1_Silent_p.G72G			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	774	PLAT 1. {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						TGGGAGAGAGCCCATTCTCTC	0.567																																					p.G72G		Atlas-SNP	.											.	LOXHD1	367	.	0			c.G216A						.						95.0	90.0	92.0					18																	44229147		692	1591	2283	SO:0001819	synonymous_variant	125336	exon2			AGAGAGCCCATTC	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	ENST00000441551.2:c.216G>A	chr18.hg19:g.44229147C>T		95.0	0.0		78.0	43.0	NM_144612	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	ENST00000441551.2	hg19		.	.	.	.	.	.	.	.	.	.	C	10.48	1.363347	0.24684	.	.	ENSG00000167210	ENST00000441551	.	.	.	4.62	1.55	0.23275	.	.	.	.	.	T	0.54515	0.1863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45687	-0.9244	4	.	.	.	.	6.8933	0.24243	0.0:0.4369:0.3997:0.1634	.	.	.	.	T	53	.	.	A	-	1	0	LOXHD1	42483145	0.536000	0.26378	1.000000	0.80357	0.977000	0.68977	-0.296000	0.08287	0.467000	0.27218	0.561000	0.74099	GCT	.	.		0.567	LOXHD1-013	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000446054.1	NM_144612	
GGN	199720	hgsc.bcm.edu	37	19	38876399	38876399	+	Silent	SNP	A	A	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr19:38876399A>G	ENST00000334928.6	-	3	1635	c.1503T>C	c.(1501-1503)gcT>gcC	p.A501A	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	501	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ccacggtgggagctggagccg	0.746																																					p.A501A		Atlas-SNP	.											.	GGN	50	.	0			c.T1503C						.						4.0	6.0	6.0					19																	38876399		1869	3766	5635	SO:0001819	synonymous_variant	199720	exon3			GGTGGGAGCTGGA	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1503T>C	chr19.hg19:g.38876399A>G		43.0	0.0		51.0	5.0	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	hg19	CCDS12516.1																																																																																			.	.		0.746	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
GGN	199720	hgsc.bcm.edu	37	19	38876402	38876402	+	Silent	SNP	T	T	C			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr19:38876402T>C	ENST00000334928.6	-	3	1632	c.1500A>G	c.(1498-1500)ccA>ccG	p.P500P	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	500	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			cggtgggagctggagccgggg	0.746																																					p.P500P		Atlas-SNP	.											.	GGN	50	.	0			c.A1500G						.						4.0	6.0	5.0					19																	38876402		1834	3724	5558	SO:0001819	synonymous_variant	199720	exon3			GGGAGCTGGAGCC	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1500A>G	chr19.hg19:g.38876402T>C		42.0	0.0		52.0	5.0	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	hg19	CCDS12516.1																																																																																			.	.		0.746	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
BAX	581	hgsc.bcm.edu	37	19	49464086	49464086	+	Missense_Mutation	SNP	C	C	T	rs369660551		TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr19:49464086C>T	ENST00000345358.7	+	5	441	c.389C>T	c.(388-390)cCg>cTg	p.P130L	BAX_ENST00000391871.3_3'UTR|BAX_ENST00000293288.8_Missense_Mutation_p.P130L|BAX_ENST00000354470.3_Missense_Mutation_p.P81L|BAX_ENST00000415969.2_Missense_Mutation_p.P130L|BAX_ENST00000539787.1_Missense_Mutation_p.R163W	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	130					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ACCAAGGTGCCGGAACTGATC	0.592																																					p.P130L		Atlas-SNP	.											.	BAX	69	.	0			c.C389T						.	C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	110.0	95.0	100.0		389,389,242,389	2.0	0.9	19		100	0,8600		0,0,4300	no	missense,missense,missense,missense	BAX	NM_004324.3,NM_138761.3,NM_138763.3,NM_138764.4	98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	130/219,130/193,81/144,130/180	49464086	1,13005	2203	4300	6503	SO:0001583	missense	581	exon5			AGGTGCCGGAACT		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.389C>T	chr19.hg19:g.49464086C>T	ENSP00000263262:p.Pro130Leu	55.0	0.0		60.0	32.0	NM_004324	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	ENST00000345358.7	hg19	CCDS12742.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.362|9.362	1.068359|1.068359	0.20067|0.20067	2.27E-4|2.27E-4	0.0|0.0	ENSG00000087088|ENSG00000087088	ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288|ENST00000539787;ENST00000506183	T;T;T;T|T	0.34667|0.12039	1.35;2.73;1.35;2.73|2.72	3.1|3.1	2.03|2.03	0.26663|0.26663	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.20700|0.20700	0.0498|0.0498	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.71674|.	0.912;0.996;0.986;0.998|.	B;P;B;P|.	0.55577|.	0.158;0.707;0.394;0.779|.	T|T	0.01909|0.01909	-1.1249|-1.1249	10|7	0.19147|0.87932	T|D	0.46|0	-8.9341|-8.9341	8.1459|8.1459	0.31110|0.31110	0.0:0.751:0.249:0.0|0.0:0.751:0.249:0.0	.|.	81;130;130;130|.	Q07812-4;Q07812;Q07812-8;Q07812-2|.	.;BAX_HUMAN;.;.|.	L|W	130;130;81;130|163;64	ENSP00000263262:P130L;ENSP00000389971:P130L;ENSP00000346461:P81L;ENSP00000293288:P130L|ENSP00000441413:R163W	ENSP00000293288:P130L|ENSP00000348871:R163W	P|R	+|+	2|1	0|2	BAX|BAX	54155898|54155898	0.999000|0.999000	0.42202|0.42202	0.929000|0.929000	0.37066|0.37066	0.161000|0.161000	0.22273|0.22273	5.205000|5.205000	0.65186|0.65186	0.835000|0.835000	0.34877|0.34877	-0.333000|-0.333000	0.08304|0.08304	CCG|CGG	.	.		0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763	
ZNF175	7728	hgsc.bcm.edu	37	19	52090771	52090771	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr19:52090771G>T	ENST00000262259.2	+	5	1545	c.1187G>T	c.(1186-1188)tGt>tTt	p.C396F	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	396					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C396F(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TGCAGTGAATGTGGCAAAGGC	0.403																																					p.C396F		Atlas-SNP	.											ZNF175,NS,carcinoma,0,1	ZNF175	65	.	1	Substitution - Missense(1)	prostate(1)	c.G1187T						.						82.0	83.0	83.0					19																	52090771		2203	4300	6503	SO:0001583	missense	7728	exon5			GTGAATGTGGCAA	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1187G>T	chr19.hg19:g.52090771G>T	ENSP00000262259:p.Cys396Phe	119.0	0.0		131.0	62.0	NM_007147	A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	hg19	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095932	0.56075	.	.	ENSG00000105497	ENST00000262259	D	0.85861	-2.04	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94466	0.8219	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94732	0.7910	9	0.87932	D	0	.	10.6252	0.45504	0.0:0.0:1.0:0.0	.	396	Q9Y473	ZN175_HUMAN	F	396	ENSP00000262259:C396F	ENSP00000262259:C396F	C	+	2	0	ZNF175	56782583	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.756000	0.85195	1.588000	0.49971	0.655000	0.94253	TGT	.	.		0.403	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147	
GZF1	64412	hgsc.bcm.edu	37	20	23345920	23345920	+	Silent	SNP	A	A	G	rs547594353|rs146870841	byFrequency	TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr20:23345920A>G	ENST00000338121.5	+	2	977	c.900A>G	c.(898-900)gaA>gaG	p.E300E	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Silent_p.E300E			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	300					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					Cggaggaggaagaggaggagg	0.527																																					p.E300E		Atlas-SNP	.											.,1	GZF1	61	.	0			c.A900G						.	A		0,4406		0,0,2203	48.0	53.0	52.0		900	-8.0	0.0	20	dbSNP_134	52	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous	GZF1	NM_022482.3		0,3,6500	GG,GA,AA		0.0349,0.0,0.0231		300/712	23345920	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64412	exon1			GGAGGAAGAGGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.900A>G	chr20.hg19:g.23345920A>G		98.0	0.0		93.0	4.0	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	hg19	CCDS13151.1																																																																																			.	A|1.000;G|0.000		0.527	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482	
POFUT1	23509	hgsc.bcm.edu	37	20	30803116	30803116	+	Silent	SNP	G	G	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr20:30803116G>A	ENST00000375749.3	+	3	353	c.291G>A	c.(289-291)caG>caA	p.Q97Q	POFUT1_ENST00000375730.3_Silent_p.Q97Q|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	97					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCCCCTCCAGGCTTACCATC	0.577																																					p.Q97Q		Atlas-SNP	.											.	POFUT1	52	.	0			c.G291A						.						69.0	71.0	71.0					20																	30803116		2203	4300	6503	SO:0001819	synonymous_variant	23509	exon3			CCTCCAGGCTTAC	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.291G>A	chr20.hg19:g.30803116G>A		91.0	0.0		96.0	32.0	NM_172236	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Silent	SNP	ENST00000375749.3	hg19	CCDS13198.1																																																																																			.	.		0.577	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352	
SIM2	6493	hgsc.bcm.edu	37	21	38098520	38098520	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr21:38098520A>G	ENST00000290399.6	+	6	1257	c.644A>G	c.(643-645)cAg>cGg	p.Q215R	SIM2_ENST00000430056.3_Missense_Mutation_p.Q215R	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	215					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCCGTGGGCCAGTCGCTGCCA	0.547																																					p.Q215R		Atlas-SNP	.											.	SIM2	55	.	0			c.A644G						.						117.0	100.0	106.0					21																	38098520		2203	4300	6503	SO:0001583	missense	6493	exon6			TGGGCCAGTCGCT		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.644A>G	chr21.hg19:g.38098520A>G	ENSP00000290399:p.Gln215Arg	33.0	0.0		24.0	17.0	NM_005069	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	hg19	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728607	0.69074	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.71341	-0.56;-0.56	5.44	5.44	0.79542	.	0.050554	0.85682	D	0.000000	T	0.65354	0.2683	N	0.16368	0.405	0.49299	D	0.999777	P;P	0.50943	0.94;0.868	P;P	0.49752	0.621;0.572	T	0.71573	-0.4552	10	0.72032	D	0.01	.	15.804	0.78477	1.0:0.0:0.0:0.0	.	215;215	Q14190;Q14190-2	SIM2_HUMAN;.	R	215	ENSP00000290399:Q215R;ENSP00000404176:Q215R	ENSP00000290399:Q215R	Q	+	2	0	SIM2	37020390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.732000	0.91534	2.193000	0.70182	0.533000	0.62120	CAG	.	.		0.547	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586	
MX2	4600	hgsc.bcm.edu	37	21	42770888	42770888	+	Missense_Mutation	SNP	G	G	A	rs368866145		TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr21:42770888G>A	ENST00000330714.3	+	9	1398	c.1214G>A	c.(1213-1215)cGg>cAg	p.R405Q	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	405					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAGGAGCTGCGGCGTTGCGGG	0.527																																					p.R405Q		Atlas-SNP	.											.	MX2	84	.	0			c.G1214A						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	86.0	85.0		1214	-1.2	0.0	21		85	0,8600		0,0,4300	no	missense	MX2	NM_002463.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	405/716	42770888	1,13005	2203	4300	6503	SO:0001583	missense	4600	exon9			AGCTGCGGCGTTG		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1214G>A	chr21.hg19:g.42770888G>A	ENSP00000333657:p.Arg405Gln	87.0	0.0		55.0	5.0	NM_002463	B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	hg19	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	1.743	-0.491252	0.04322	2.27E-4	0.0	ENSG00000183486	ENST00000330714	T	0.72051	-0.62	4.09	-1.23	0.09465	Dynamin central domain (1);	0.433164	0.24688	N	0.036403	T	0.40743	0.1129	N	0.11023	0.085	0.21762	N	0.999556	B	0.19331	0.035	B	0.19148	0.024	T	0.37009	-0.9724	10	0.02654	T	1	-8.565	9.0138	0.36157	0.6122:0.0:0.3878:0.0	.	405	P20592	MX2_HUMAN	Q	405	ENSP00000333657:R405Q	ENSP00000333657:R405Q	R	+	2	0	MX2	41692758	0.001000	0.12720	0.017000	0.16124	0.023000	0.10783	-0.185000	0.09684	-0.402000	0.07633	0.591000	0.81541	CGG	.	.		0.527	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
NLGN4X	57502	hgsc.bcm.edu	37	X	6069247	6069247	+	Silent	SNP	C	C	G			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chrX:6069247C>G	ENST00000381095.3	-	2	888	c.261G>C	c.(259-261)cgG>cgC	p.R87R	NLGN4X_ENST00000381093.2_Silent_p.R87R|NLGN4X_ENST00000538097.1_Silent_p.R87R|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Silent_p.R87R|NLGN4X_ENST00000275857.6_Silent_p.R87R	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	87					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGGCTGAAACCGCCTCTCTC	0.577																																					p.R87R		Atlas-SNP	.											.	NLGN4X	191	.	0			c.G261C						.						68.0	63.0	65.0					X																	6069247		2203	4300	6503	SO:0001819	synonymous_variant	57502	exon2			CTGAAACCGCCTC	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.261G>C	chrX.hg19:g.6069247C>G		203.0	0.0		176.0	73.0	NM_181332	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	hg19	CCDS14126.1																																																																																			.	.		0.577	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
DCAF8L2	347442	hgsc.bcm.edu	37	X	27766594	27766594	+	Silent	SNP	T	T	C			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chrX:27766594T>C	ENST00000451261.2	+	5	1981	c.1582T>C	c.(1582-1584)Ttg>Ctg	p.L528L		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	528										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTACCTGTGTTGGCGTGCAG	0.468																																					p.L528L		Atlas-SNP	.											.	DCAF8L2	79	.	0			c.T1582C						.						155.0	115.0	127.0					X																	27766594		692	1591	2283	SO:0001819	synonymous_variant	347442	exon1			CCTGTGTTGGCGT		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1582T>C	chrX.hg19:g.27766594T>C		227.0	0.0		214.0	97.0	NM_001136533	B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	hg19	CCDS59162.1																																																																																			.	.		0.468	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354	
AR	367	hgsc.bcm.edu	37	X	66765173	66765173	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chrX:66765173A>T	ENST00000374690.3	+	1	709	c.185A>T	c.(184-186)cAg>cTg	p.Q62L	AR_ENST00000504326.1_Missense_Mutation_p.Q62L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q62L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	62	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																												p.Q62L		Atlas-SNP	.											.	AR	249	.	0			c.A185T						.						5.0	9.0	7.0					X																	66765173		1734	3384	5118	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	AGCAGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.185A>T	chrX.hg19:g.66765173A>T	ENSP00000363822:p.Gln62Leu	171.0	0.0		155.0	14.0	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	13.85	2.358892	0.41801	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69306	-0.39;-0.39;-0.39	.	.	.	.	1.296110	0.05656	N	0.585987	T	0.58850	0.2151	N	0.19112	0.55	0.09310	N	0.999999	P;P;.	0.43431	0.807;0.458;.	P;B;.	0.53518	0.728;0.245;.	T	0.51180	-0.8738	8	0.11485	T	0.65	.	.	.	.	.	62;62;60	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	62	ENSP00000363822:Q62L;ENSP00000421155:Q62L;ENSP00000379359:Q62L	ENSP00000363822:Q62L	Q	+	2	0	AR	66681898	0.984000	0.35163	0.863000	0.33907	0.539000	0.34962	1.220000	0.32491	0.000000	0.14550	0.000000	0.15137	CAG	.	.		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
ATP2B3	492	hgsc.bcm.edu	37	X	152825344	152825344	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chrX:152825344A>T	ENST00000349466.2	+	17	3109	c.2783A>T	c.(2782-2784)aAc>aTc	p.N928I	ATP2B3_ENST00000393842.1_Missense_Mutation_p.N914I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.N928I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.N928I|ATP2B3_ENST00000370186.1_Missense_Mutation_p.N914I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.N914I|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	928					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGATGAAGAACATTCTGGGC	0.642																																					p.N928I		Atlas-SNP	.											.	ATP2B3	552	.	0			c.A2783T						.						109.0	81.0	91.0					X																	152825344		2203	4300	6503	SO:0001583	missense	492	exon16			TGAAGAACATTCT	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2783A>T	chrX.hg19:g.152825344A>T	ENSP00000343886:p.Asn928Ile	110.0	0.0		93.0	10.0	NM_001001344	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	hg19	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443766	0.83993	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89;-3.89	5.32	5.32	0.75619	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	H	0.98866	4.355	0.58432	D	0.999999	D;D	0.65815	0.992;0.995	D;D	0.68192	0.935;0.956	D	0.99191	1.0870	10	0.87932	D	0	-46.4032	13.2544	0.60070	1.0:0.0:0.0:0.0	.	928;928	Q16720;Q16720-2	AT2B3_HUMAN;.	I	914;928;914;928;928;914	ENSP00000359205:N914I;ENSP00000343886:N928I;ENSP00000377425:N914I;ENSP00000352062:N928I;ENSP00000263519:N928I;ENSP00000359200:N914I	ENSP00000263519:N928I	N	+	2	0	ATP2B3	152478538	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	9.252000	0.95491	1.771000	0.52183	0.430000	0.28490	AAC	.	.		0.642	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
UBL4A	8266	hgsc.bcm.edu	37	X	153714302	153714302	+	Silent	SNP	C	C	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chrX:153714302C>T	ENST00000369660.4	-	3	256	c.171G>A	c.(169-171)tcG>tcA	p.S57S	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Silent_p.S57S	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTATAATCCGAGAGTCGTT	0.647																																					p.S57S	Esophageal Squamous(74;88 1215 11149 34177 46777)	Atlas-SNP	.											.	UBL4A	12	.	0			c.G171A						.						81.0	76.0	78.0					X																	153714302		2202	4300	6502	SO:0001819	synonymous_variant	8266	exon3			ATAATCCGAGAGT	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.171G>A	chrX.hg19:g.153714302C>T		45.0	0.0		42.0	23.0	NM_014235	Q5HY80	Silent	SNP	ENST00000369660.4	hg19	CCDS14754.1																																																																																			.	.		0.647	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235	
SPTAN1	6709	hgsc.bcm.edu	37	9	131378105	131378121	+	Splice_Site	DEL	GGAGTCCTGGATCAAGT	GGAGTCCTGGATCAAGT	-			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	GGAGTCCTGGATCAAGT	GGAGTCCTGGATCAAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr9:131378105_131378121delGGAGTCCTGGATCAAGT	ENST00000372731.4	+	40	5438_5452	c.5328_5342delGGAGTCCTGGATCAAGT	c.(5326-5343)gaggagtcctggatcaag>gag	p.ESWIK1777fs	SPTAN1_ENST00000372739.3_Splice_Site_p.ESWIK1782fs|SPTAN1_ENST00000358161.5_Splice_Site_p.ESWIK1782fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1777					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGATGACGAGGAGTCCTGGATCAAGTATGTCTTCTC	0.576																																					p.1781_1786del	NSCLC(120;833 1744 2558 35612 37579)	Atlas-INDEL	.											.	SPTAN1	266	.	0			c.5342_5357del						.																																			SO:0001630	splice_region_variant	6709	exon41			.	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5342+1GGAGTCCTGGATCAAGT>-	chr9.hg19:g.131378105_131378121delGGAGTCCTGGATCAAGT		69.0	0.0		71.0	21.0	NM_001130438	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Del	DEL	ENST00000372731.4	hg19	CCDS6905.1																																																																																			.	.		0.576	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Frame_Shift_Del
PBRM1	55193	hgsc.bcm.edu	37	3	52668670	52668671	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr3:52668670_52668671insT	ENST00000296302.7	-	11	1249_1250	c.1248_1249insA	c.(1246-1251)aaatacfs	p.Y417fs	PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Y385fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Y417fs			Q86U86	PB1_HUMAN	polybromo 1	417	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAATCAGGGTATTTTTTCTTTG	0.347			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.Y417fs		Atlas-INDEL	.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1	1252	.	0			c.1249_1250insA						.																																			SO:0001589	frameshift_variant	55193	exon12			.	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1249dupA	chr3.hg19:g.52668676_52668676dupT	ENSP00000296302:p.Tyr417fs	135.0	0.0		73.0	55.0	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	hg19																																																																																				.	.		0.347	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
NCOR1	9611	hgsc.bcm.edu	37	17	16029456	16029457	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr17:16029456_16029457insT	ENST00000268712.3	-	15	1830_1831	c.1573_1574insA	c.(1573-1575)acafs	p.T525fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T525fs|NCOR1_ENST00000395848.1_Frame_Shift_Ins_p.T416fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	525					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ttttttttctgttttttctgct	0.297																																					p.T525fs		Atlas-INDEL	.											.,1	NCOR1	240	.	0			c.1574_1575insA						.																																			SO:0001589	frameshift_variant	9611	exon14			.	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1574dupA	chr17.hg19:g.16029462_16029462dupT	ENSP00000268712:p.Thr525fs	163.0	0.0		117.0	90.0	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	ENST00000268712.3	hg19	CCDS11175.1																																																																																			.	.		0.297	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
CEP350	9857	hgsc.bcm.edu	37	1	180023062	180023063	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-AADY-01A-11D-A40R-10	TCGA-DD-AADY-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	43286c0b-a477-4ef8-91a6-7a6703b6d1d8	2ffa15b7-17be-48ce-a5af-e25e022f0bb2	g.chr1:180023062_180023063insA	ENST00000367607.3	+	24	5585_5586	c.5167_5168insA	c.(5167-5169)caafs	p.Q1723fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1723					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTAGAGCATCAAAAAAAGTAA	0.371																																					p.Q1723fs		Atlas-INDEL	.											.	CEP350	418	.	0			c.5167_5168insA						.																																			SO:0001589	frameshift_variant	9857	exon24			.	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5175dupA	chr1.hg19:g.180023069_180023069dupA	ENSP00000356579:p.Gln1723fs	183.0	0.0		310.0	64.0	NM_014810	O75068|Q8TDK3|Q8WY20	Frame_Shift_Ins	INS	ENST00000367607.3	hg19	CCDS1336.1																																																																																			.	.		0.371	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
