#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
HSPG2	3339	hgsc.bcm.edu	37	1	22178363	22178363	+	Silent	SNP	G	G	A	rs552716935		TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr1:22178363G>A	ENST00000374695.3	-	54	7006	c.6927C>T	c.(6925-6927)taC>taT	p.Y2309Y	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2309	Ig-like C2-type 8.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCGGCAGACGTACTGTCCCG	0.672													g|||	1	0.000199681	0.0	0.0	5008	,	,		17636	0.001		0.0	False		,,,				2504	0.0				p.Y2309Y		Atlas-SNP	.											.	HSPG2	311	.	0			c.C6927T						.						27.0	28.0	28.0					1																	22178363		2202	4300	6502	SO:0001819	synonymous_variant	3339	exon54			GCAGACGTACTGT	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6927C>T	chr1.hg19:g.22178363G>A		102.0	0.0		82.0	4.0	NM_005529	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	hg19	CCDS30625.1																																																																																			.	.		0.672	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
HSPG2	3339	hgsc.bcm.edu	37	1	22216583	22216583	+	Missense_Mutation	SNP	A	A	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr1:22216583A>T	ENST00000374695.3	-	6	544	c.465T>A	c.(463-465)aaT>aaA	p.N155K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	155	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCCATCCGCATTCCCTTCCG	0.612																																					p.N155K		Atlas-SNP	.											.	HSPG2	311	.	0			c.T465A						.						176.0	153.0	161.0					1																	22216583		2203	4300	6503	SO:0001583	missense	3339	exon6			ATCCGCATTCCCT	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.465T>A	chr1.hg19:g.22216583A>T	ENSP00000363827:p.Asn155Lys	160.0	0.0		125.0	15.0	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	hg19	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.28|10.28	1.306944|1.306944	0.23821|0.23821	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000412328|ENST00000374695;ENST00000439717	T|T;T	0.50001|0.76060	0.76|-0.99;0.76	5.44|5.44	-5.27|-5.27	0.02763|0.02763	.|SEA (2);	.|0.000000	.|0.42294	.|D	.|0.000728	T|T	0.68842|0.68842	0.3045|0.3045	L|L	0.29908|0.29908	0.895|0.895	0.27704|0.27704	N|N	0.945691|0.945691	B|D	0.34015|0.57257	0.435|0.979	B|P	0.30572|0.54270	0.117|0.747	T|T	0.71381|0.71381	-0.4610|-0.4610	8|10	.|0.66056	.|D	.|0.02	.|.	14.7541|14.7541	0.69549|0.69549	0.7515:0.0:0.2485:0.0|0.7515:0.0:0.2485:0.0	.|.	78|155	Q5SZI5|P98160	.|PGBM_HUMAN	K|K	78|155;121	ENSP00000405412:M78K|ENSP00000363827:N155K;ENSP00000395884:N121K	.|ENSP00000363827:N155K	M|N	-|-	2|3	0|2	HSPG2|HSPG2	22089170|22089170	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.150000|0.150000	0.21749|0.21749	-0.554000|-0.554000	0.06006|0.06006	-1.324000|-1.324000	0.02272|0.02272	-0.242000|-0.242000	0.12053|0.12053	ATG|AAT	.	.		0.612	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
NES	10763	hgsc.bcm.edu	37	1	156639240	156639240	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr1:156639240C>T	ENST00000368223.3	-	4	4872	c.4740G>A	c.(4738-4740)caG>caA	p.Q1580Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1580	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCTCCTCCTGAAAGGGGC	0.592																																					p.Q1580Q		Atlas-SNP	.											.	NES	196	.	0			c.G4740A						.						86.0	78.0	81.0					1																	156639240		2203	4300	6503	SO:0001819	synonymous_variant	10763	exon4			CTCCTCCTGAAAG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4740G>A	chr1.hg19:g.156639240C>T		113.0	0.0		121.0	6.0	NM_006617	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	hg19	CCDS1151.1																																																																																			.	.		0.592	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
SPTA1	6708	hgsc.bcm.edu	37	1	158648295	158648295	+	Missense_Mutation	SNP	C	C	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr1:158648295C>A	ENST00000368147.4	-	6	888	c.708G>T	c.(706-708)caG>caT	p.Q236H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	236					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTGCTTAGACTGAATTAAGG	0.403																																					p.Q236H		Atlas-SNP	.											.	SPTA1	720	.	0			c.G708T						.						73.0	69.0	70.0					1																	158648295		1872	4104	5976	SO:0001583	missense	6708	exon6			CTTAGACTGAATT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.708G>T	chr1.hg19:g.158648295C>A	ENSP00000357129:p.Gln236His	73.0	0.0		83.0	28.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638245	0.29157	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53206	0.63;0.63	4.66	2.78	0.32641	.	0.956614	0.08483	N	0.939112	T	0.28234	0.0697	L	0.33245	0.995	0.09310	N	1	B	0.29301	0.241	B	0.42495	0.389	T	0.50947	-0.8767	10	0.46703	T	0.11	.	9.663	0.39967	0.0:0.8288:0.0:0.1712	.	236	P02549	SPTA1_HUMAN	H	236	ENSP00000357130:Q236H;ENSP00000357129:Q236H	ENSP00000357129:Q236H	Q	-	3	2	SPTA1	156914919	0.629000	0.27146	0.003000	0.11579	0.004000	0.04260	1.691000	0.37721	0.688000	0.31529	0.650000	0.86243	CAG	.	.		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SLAMF8	56833	hgsc.bcm.edu	37	1	159802783	159802783	+	Missense_Mutation	SNP	A	A	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr1:159802783A>G	ENST00000289707.5	+	3	634	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	C1orf204_ENST00000491974.1_5'Flank|SLAMF8_ENST00000368104.4_Missense_Mutation_p.Y53C|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	162	Ig-like C2-type.				cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GAAATAACCTATAGCTGGCGA	0.532																																					p.Y162C		Atlas-SNP	.											.	SLAMF8	30	.	0			c.A485G						.						103.0	102.0	102.0					1																	159802783		2203	4300	6503	SO:0001583	missense	56833	exon3			TAACCTATAGCTG	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.485A>G	chr1.hg19:g.159802783A>G	ENSP00000289707:p.Tyr162Cys	163.0	0.0		194.0	94.0	NM_020125	Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	hg19	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483628	0.44147	.	.	ENSG00000158714	ENST00000289707;ENST00000368104	T;T	0.58506	0.33;0.33	4.6	4.6	0.57074	Immunoglobulin-like (1);	0.151754	0.45606	D	0.000346	T	0.67813	0.2933	M	0.77820	2.39	0.41646	D	0.989108	D	0.89917	1.0	D	0.91635	0.999	T	0.73421	-0.3988	10	0.87932	D	0	-12.1505	10.3147	0.43729	1.0:0.0:0.0:0.0	.	162	Q9P0V8	SLAF8_HUMAN	C	162;53	ENSP00000289707:Y162C;ENSP00000357084:Y53C	ENSP00000289707:Y162C	Y	+	2	0	SLAMF8	158069407	0.995000	0.38212	0.973000	0.42090	0.400000	0.30750	4.345000	0.59360	1.927000	0.55829	0.528000	0.53228	TAT	.	.		0.532	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125	
BRINP3	339479	hgsc.bcm.edu	37	1	190067645	190067645	+	Missense_Mutation	SNP	C	C	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr1:190067645C>A	ENST00000367462.3	-	8	2035	c.1804G>T	c.(1804-1806)Gac>Tac	p.D602Y	BRINP3_ENST00000534846.1_Missense_Mutation_p.D500Y	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	602					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGGGGTAGGTCCAACTTAGTC	0.468																																					p.D602Y		Atlas-SNP	.											FAM5C,NS,carcinoma,0,1	FAM5C	343	.	0			c.G1804T						.						213.0	220.0	218.0					1																	190067645		2203	4300	6503	SO:0001583	missense	339479	exon8			GTAGGTCCAACTT	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1804G>T	chr1.hg19:g.190067645C>A	ENSP00000356432:p.Asp602Tyr	104.0	0.0		162.0	45.0	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	hg19	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489771	0.64074	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.23552	2.15;1.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	M	0.68952	2.095	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.57548	0.823;0.552	T	0.41945	-0.9480	10	0.87932	D	0	.	17.1246	0.86710	0.0:1.0:0.0:0.0	.	500;602	B7Z260;Q76B58	.;FAM5C_HUMAN	Y	602;500	ENSP00000356432:D602Y;ENSP00000438022:D500Y	ENSP00000356432:D602Y	D	-	1	0	FAM5C	188334268	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.734000	0.84928	2.645000	0.89757	0.585000	0.79938	GAC	.	.		0.468	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
GPR25	2848	hgsc.bcm.edu	37	1	200842406	200842406	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr1:200842406C>T	ENST00000304244.2	+	1	324	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	81					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGTGCTGCACCTGGCGGCAGC	0.751																																					p.L81L		Atlas-SNP	.											.	GPR25	23	.	0			c.C241T						.						7.0	7.0	7.0					1																	200842406		2082	3984	6066	SO:0001819	synonymous_variant	2848	exon1			CTGCACCTGGCGG	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.241C>T	chr1.hg19:g.200842406C>T		92.0	0.0		101.0	50.0	NM_005298	A0AVJ5	Silent	SNP	ENST00000304244.2	hg19	CCDS1405.1																																																																																			.	.		0.751	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298	
IKBKE	9641	hgsc.bcm.edu	37	1	206658535	206658535	+	Missense_Mutation	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr1:206658535C>T	ENST00000367120.3	+	15	1881	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	IKBKE_ENST00000537984.1_Missense_Mutation_p.A418V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	503	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCACAGCTAGCGGAGGTCCTC	0.627																																					p.A503V		Atlas-SNP	.											.	IKBKE	77	.	0			c.C1508T						.						44.0	43.0	43.0					1																	206658535		2203	4300	6503	SO:0001583	missense	9641	exon15			AGCTAGCGGAGGT	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1508C>T	chr1.hg19:g.206658535C>T	ENSP00000356087:p.Ala503Val	180.0	0.0		194.0	45.0	NM_001193322	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	hg19	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672830	0.47781	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.17054	2.3;2.3	5.24	2.13	0.27403	.	0.924949	0.09269	N	0.825439	T	0.08846	0.0219	N	0.12182	0.205	0.09310	N	1	B;B	0.14438	0.01;0.005	B;B	0.08055	0.002;0.003	T	0.28267	-1.0049	10	0.38643	T	0.18	1.0507	4.6448	0.12566	0.2017:0.5885:0.1222:0.0876	.	418;503	Q3B754;Q14164	.;IKKE_HUMAN	V	503;418	ENSP00000356087:A503V;ENSP00000444529:A418V	ENSP00000356087:A503V	A	+	2	0	IKBKE	204725158	0.014000	0.17966	0.095000	0.20976	0.696000	0.40369	0.091000	0.15046	1.199000	0.43173	0.563000	0.77884	GCG	.	.		0.627	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		
ALMS1	7840	hgsc.bcm.edu	37	2	73613037	73613037	+	Missense_Mutation	SNP	A	A	T	rs61156725|rs72319667|rs3074417	byFrequency	TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr2:73613037A>T	ENST00000264448.6	+	1	152	c.41A>T	c.(40-42)gAg>gTg	p.E14V	ALMS1_ENST00000377715.1_Missense_Mutation_p.E14V|ALMS1_ENST00000409009.1_Missense_Mutation_p.E14V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	14	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E27_E28delEE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGCTggaggaggaggaggag	0.697																																					p.E14V		Atlas-SNP	.											.	ALMS1	384	.	1	Deletion - In frame(1)	ovary(1)	c.A41T						.						3.0	4.0	4.0					2																	73613037		1515	3244	4759	SO:0001583	missense	7840	exon1			TGGAGGAGGAGGA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.41A>T	chr2.hg19:g.73613037A>T	ENSP00000264448:p.Glu14Val	145.0	0.0		197.0	29.0	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813706	0.50527	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.26660	2.37;2.58;1.72	3.19	3.19	0.36642	.	0.259523	0.20097	U	0.099311	T	0.31358	0.0794	N	0.19112	0.55	0.24255	N	0.995306	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.02698	-1.1122	10	0.87932	D	0	.	8.1308	0.31027	1.0:0.0:0.0:0.0	.	14;14	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	V	14	ENSP00000386627:E14V;ENSP00000264448:E14V;ENSP00000366944:E14V	ENSP00000264448:E14V	E	+	2	0	ALMS1	73466545	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	3.230000	0.51286	1.682000	0.51000	0.397000	0.26171	GAG	.	.		0.697	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	hgsc.bcm.edu	37	2	73613065	73613065	+	Silent	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr2:73613065G>A	ENST00000264448.6	+	1	180	c.69G>A	c.(67-69)gaG>gaA	p.E23E	ALMS1_ENST00000377715.1_Silent_p.E23E|ALMS1_ENST00000409009.1_Silent_p.E23E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	23	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						aggaggaggaggaggaagagg	0.687																																					p.E23E		Atlas-SNP	.											.	ALMS1	384	.	0			c.G69A						.						6.0	9.0	8.0					2																	73613065		1849	3831	5680	SO:0001819	synonymous_variant	7840	exon1			GGAGGAGGAGGAA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.69G>A	chr2.hg19:g.73613065G>A		543.0	0.0		460.0	26.0	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																			.	.		0.687	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
SESTD1	91404	hgsc.bcm.edu	37	2	180008343	180008343	+	Missense_Mutation	SNP	T	T	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr2:180008343T>A	ENST00000428443.3	-	9	1141	c.825A>T	c.(823-825)gaA>gaT	p.E275D		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	275							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTTGAATCTCTTCTAACTGTG	0.373																																					p.E275D		Atlas-SNP	.											.	SESTD1	66	.	0			c.A825T						.						144.0	139.0	141.0					2																	180008343		2203	4300	6503	SO:0001583	missense	91404	exon9			AATCTCTTCTAAC	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.825A>T	chr2.hg19:g.180008343T>A	ENSP00000415332:p.Glu275Asp	77.0	0.0		78.0	28.0	NM_178123	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	hg19	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117028	0.37339	.	.	ENSG00000187231	ENST00000428443	T	0.35789	1.29	6.07	1.15	0.20763	.	0.086607	0.85682	D	0.000000	T	0.12305	0.0299	N	0.03608	-0.345	0.45502	D	0.998462	B	0.02656	0.0	B	0.04013	0.001	T	0.10154	-1.0642	9	.	.	.	-26.6991	4.9016	0.13777	0.1875:0.5082:0.0:0.3043	.	275	Q86VW0	SESD1_HUMAN	D	275	ENSP00000415332:E275D	.	E	-	3	2	SESTD1	179716588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.802000	0.27069	0.202000	0.20498	-0.250000	0.11733	GAA	.	.		0.373	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	
NDUFS1	4719	hgsc.bcm.edu	37	2	206994823	206994823	+	Missense_Mutation	SNP	A	A	C			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr2:206994823A>C	ENST00000233190.6	-	15	1963	c.1697T>G	c.(1696-1698)aTt>aGt	p.I566S	NDUFS1_ENST00000440274.1_Missense_Mutation_p.I530S|NDUFS1_ENST00000449699.1_Missense_Mutation_p.I566S|NDUFS1_ENST00000423725.1_Missense_Mutation_p.I509S|NDUFS1_ENST00000455934.2_Missense_Mutation_p.I580S|NDUFS1_ENST00000457011.1_Missense_Mutation_p.I450S|NDUFS1_ENST00000432169.1_Missense_Mutation_p.I455S	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	566					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGATAAATAATGAAACAATC	0.398																																					p.I580S		Atlas-SNP	.											.	NDUFS1	82	.	0			c.T1739G						.						94.0	93.0	93.0					2																	206994823		2203	4300	6503	SO:0001583	missense	4719	exon15			TAAATAATGAAAC		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1697T>G	chr2.hg19:g.206994823A>C	ENSP00000233190:p.Ile566Ser	108.0	0.0		109.0	47.0	NM_001199984	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	hg19	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	a	23.7	4.452591	0.84209	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.7	5.7	0.88788	Molybdopterin oxidoreductase (1);	0.045982	0.85682	D	0.000000	D	0.95130	0.8422	M	0.81802	2.56	0.80722	D	1	P;D;D;D	0.61697	0.503;0.989;0.99;0.99	P;D;D;P	0.67103	0.536;0.949;0.924;0.868	D	0.95660	0.8714	10	0.87932	D	0	0.681	15.9596	0.79918	1.0:0.0:0.0:0.0	.	455;530;580;566	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	S	566;509;450;530;580;566;455	ENSP00000233190:I566S;ENSP00000397760:I509S;ENSP00000400976:I450S;ENSP00000409766:I530S;ENSP00000392709:I580S;ENSP00000399912:I566S;ENSP00000409689:I455S	ENSP00000233190:I566S	I	-	2	0	NDUFS1	206703068	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.003000	0.93577	2.171000	0.68590	0.402000	0.26972	ATT	.	.		0.398	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266103	41266103	+	Missense_Mutation	SNP	G	G	A	rs121913399|rs121913416		TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr3:41266103G>A	ENST00000349496.5	+	3	380	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34R|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27R|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34R|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34R	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR). {ECO:0000269|PubMed:10192393}.|G -> R (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|G -> V (in hepatoblastoma; dbSNP:rs28931589). {ECO:0000269|PubMed:9927029}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G34R(87)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.S33_G34insGTS(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.GIHS34?(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CCTGGACTCTGGAATCCATTC	0.488		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.G34R	Colon(6;3 56 14213 18255)	Atlas-SNP	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,gallbladder,other,-1,1	CTNNB1	4904	.	220	Deletion - In frame(105)|Substitution - Missense(87)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Insertion - In frame(2)	liver(126)|large_intestine(21)|central_nervous_system(19)|pancreas(15)|endometrium(11)|stomach(10)|skin(4)|pituitary(4)|soft_tissue(2)|small_intestine(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)|lung(1)|ovary(1)|kidney(1)	c.G100A						.						92.0	77.0	82.0					3																	41266103		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	GACTCTGGAATCC	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.100G>A	chr3.hg19:g.41266103G>A	ENSP00000344456:p.Gly34Arg	193.0	0.0		159.0	113.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745738	0.89663	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-31.2232	19.9596	0.97236	0.0:0.0:1.0:0.0	.	34	P35222	CTNB1_HUMAN	R	27;34;34;34;34;27;34;34;34	ENSP00000400508:G27R;ENSP00000385604:G34R;ENSP00000412219:G34R;ENSP00000379486:G34R;ENSP00000344456:G34R;ENSP00000411226:G27R;ENSP00000379488:G34R;ENSP00000409302:G34R;ENSP00000401599:G34R	ENSP00000344456:G34R	G	+	1	0	CTNNB1	41241107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GGA	.	.		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
BAP1	8314	hgsc.bcm.edu	37	3	52437545	52437545	+	Missense_Mutation	SNP	A	A	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr3:52437545A>T	ENST00000460680.1	-	13	2087	c.1616T>A	c.(1615-1617)cTg>cAg	p.L539Q	BAP1_ENST00000296288.5_Missense_Mutation_p.L521Q	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTCAACACGCAGCAGGCTGTC	0.622			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															p.L539Q	GBM(101;493 1458 7992 21037 25532)	Atlas-SNP	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	BAP1	371	.	0			c.T1616A						.						80.0	73.0	75.0					3																	52437545		2203	4300	6503	SO:0001583	missense	8314	exon13			ACACGCAGCAGGC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1616T>A	chr3.hg19:g.52437545A>T	ENSP00000417132:p.Leu539Gln	119.0	0.0		110.0	17.0	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.877709	0.72294	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368	T;T;T	0.61627	0.13;0.09;0.24	5.94	5.94	0.96194	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.066216	0.64402	D	0.000007	T	0.64427	0.2597	L	0.29908	0.895	0.53688	D	0.999978	D	0.71674	0.998	P	0.62014	0.897	T	0.66999	-0.5781	10	0.59425	D	0.04	.	16.3932	0.83546	1.0:0.0:0.0:0.0	.	539	Q92560	BAP1_HUMAN	Q	539;521;40	ENSP00000417132:L539Q;ENSP00000296288:L521Q;ENSP00000420647:L40Q	ENSP00000296288:L521Q	L	-	2	0	BAP1	52412585	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.336000	0.79245	2.267000	0.75376	0.533000	0.62120	CTG	.	.		0.622	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
SHROOM3	57619	hgsc.bcm.edu	37	4	77680796	77680796	+	Missense_Mutation	SNP	T	T	C			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr4:77680796T>C	ENST00000296043.6	+	9	6250	c.5297T>C	c.(5296-5298)aTg>aCg	p.M1766T	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1766	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATCAAAGAGATGCCAGCAGAA	0.443																																					p.M1766T		Atlas-SNP	.											.	SHROOM3	134	.	0			c.T5297C						.						123.0	105.0	111.0					4																	77680796		2203	4300	6503	SO:0001583	missense	57619	exon9			AAGAGATGCCAGC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5297T>C	chr4.hg19:g.77680796T>C	ENSP00000296043:p.Met1766Thr	238.0	0.0		215.0	81.0	NM_020859	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	hg19	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839965	0.32513	.	.	ENSG00000138771	ENST00000296043	T	0.29142	1.58	5.43	4.22	0.49857	Apx/shroom, ASD2 (2);	0.181335	0.48286	D	0.000184	T	0.37128	0.0992	L	0.61218	1.895	0.36958	D	0.893176	P	0.38148	0.62	B	0.43728	0.429	T	0.47195	-0.9136	10	0.87932	D	0	-29.4575	10.5268	0.44954	0.1441:0.0:0.0:0.8559	.	1766	Q8TF72	SHRM3_HUMAN	T	1766	ENSP00000296043:M1766T	ENSP00000296043:M1766T	M	+	2	0	SHROOM3	77899820	1.000000	0.71417	0.959000	0.39883	0.018000	0.09664	6.210000	0.72176	1.037000	0.40024	0.528000	0.53228	ATG	.	.		0.443	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
DSPP	1834	hgsc.bcm.edu	37	4	88537513	88537513	+	Missense_Mutation	SNP	A	A	C	rs112275895		TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr4:88537513A>C	ENST00000282478.7	+	4	3732	c.3699A>C	c.(3697-3699)gaA>gaC	p.E1233D	DSPP_ENST00000399271.1_Missense_Mutation_p.E1233D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1233	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcaatgaaagcagcgaca	0.547																																					p.E1233D		Atlas-SNP	.											.	DSPP	174	.	0			c.A3699C						.																																			SO:0001583	missense	1834	exon5			CAATGAAAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3699A>C	chr4.hg19:g.88537513A>C	ENSP00000282478:p.Glu1233Asp	274.0	0.0		386.0	73.0	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	hg19	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.785366	0.00628	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88741	-2.42;-2.42	2.61	-5.21	0.02815	.	.	.	.	.	T	0.57213	0.2038	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57347	-0.7827	9	0.02654	T	1	.	0.7125	0.00926	0.2623:0.1881:0.1298:0.4197	.	1233	Q9NZW4	DSPP_HUMAN	D	1233	ENSP00000382213:E1233D;ENSP00000282478:E1233D	ENSP00000282478:E1233D	E	+	3	2	DSPP	88756537	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-2.769000	0.00780	-2.252000	0.00699	-3.496000	0.00033	GAA	.	A|0.500;C|0.500		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
NFKB1	4790	hgsc.bcm.edu	37	4	103528819	103528819	+	Missense_Mutation	SNP	T	T	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr4:103528819T>G	ENST00000505458.1	+	19	2412	c.2135T>G	c.(2134-2136)gTg>gGg	p.V712G	NFKB1_ENST00000600343.1_Missense_Mutation_p.V532G|NFKB1_ENST00000394820.4_Missense_Mutation_p.V712G|NFKB1_ENST00000226574.4_Missense_Mutation_p.V713G			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	712	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GATGCCCATGTGGACAGTACT	0.547																																					p.V713G		Atlas-SNP	.											.	NFKB1	78	.	0			c.T2138G						.						187.0	166.0	173.0					4																	103528819		2203	4300	6503	SO:0001583	missense	4790	exon19			CCCATGTGGACAG	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2135T>G	chr4.hg19:g.103528819T>G	ENSP00000424790:p.Val712Gly	77.0	0.0		68.0	23.0	NM_003998	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	hg19	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411002	0.83340	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.42900	0.96;0.96;0.96	5.15	5.15	0.70609	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	T	0.72269	0.3439	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.994	T	0.80455	-0.1375	10	0.87932	D	0	.	15.0022	0.71483	0.0:0.0:0.0:1.0	.	532;712;713	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	G	713;712;712	ENSP00000226574:V713G;ENSP00000378297:V712G;ENSP00000424790:V712G	ENSP00000226574:V713G	V	+	2	0	NFKB1	103747857	1.000000	0.71417	0.908000	0.35775	0.985000	0.73830	6.868000	0.75516	1.942000	0.56320	0.533000	0.62120	GTG	.	.		0.547	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
CASP3	836	hgsc.bcm.edu	37	4	185552301	185552301	+	Missense_Mutation	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr4:185552301C>T	ENST00000308394.4	-	7	756	c.494G>A	c.(493-495)gGt>gAt	p.G165D	CASP3_ENST00000517513.1_Intron|CASP3_ENST00000393588.4_Intron|CASP3_ENST00000523916.1_Missense_Mutation_p.G165D|CASP3_ENST00000393585.2_Intron	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	165					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	CAGTTCTGTACCACGGCAGGC	0.378																																					p.G165D		Atlas-SNP	.											.	CASP3	27	.	0			c.G494A						.						75.0	66.0	69.0					4																	185552301		2203	4300	6503	SO:0001583	missense	836	exon7			TCTGTACCACGGC	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.494G>A	chr4.hg19:g.185552301C>T	ENSP00000311032:p.Gly165Asp	124.0	0.0		104.0	42.0	NM_004346	A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	hg19	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519618	0.85495	.	.	ENSG00000164305	ENST00000308394;ENST00000523916	T;T	0.57107	0.42;0.42	5.54	5.54	0.83059	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	D	0.84884	0.5571	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90970	0.4819	10	0.87932	D	0	.	19.4811	0.95009	0.0:1.0:0.0:0.0	.	165	P42574	CASP3_HUMAN	D	165	ENSP00000311032:G165D;ENSP00000428929:G165D	ENSP00000311032:G165D	G	-	2	0	CASP3	185789295	1.000000	0.71417	0.982000	0.44146	0.595000	0.36748	6.014000	0.70784	2.619000	0.88677	0.491000	0.48974	GGT	.	.		0.378	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346	
MROH2B	133558	hgsc.bcm.edu	37	5	41057463	41057463	+	Splice_Site	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr5:41057463C>T	ENST00000399564.4	-	8	1207		c.e8-1		MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B																		GTTTTAGGCTCTAAAGTGGAA	0.433																																					.		Atlas-SNP	.											HEATR7B2,bladder,carcinoma,0,1	.	.	.	0			c.757-1G>A						.						37.0	35.0	36.0					5																	41057463		1862	4115	5977	SO:0001630	splice_region_variant	133558	exon9			TAGGCTCTAAAGT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.757-1G>A	chr5.hg19:g.41057463C>T		102.0	0.0		88.0	31.0	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Splice_Site	SNP	ENST00000399564.4	hg19	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	9.903	1.207524	0.22205	.	.	ENSG00000171495	ENST00000399564	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4504	0.67382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR7B2	41093220	1.000000	0.71417	0.993000	0.49108	0.070000	0.16714	3.256000	0.51492	2.873000	0.98535	0.561000	0.74099	.	.	.		0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	Intron
KIAA0825	285600	hgsc.bcm.edu	37	5	93775757	93775757	+	Missense_Mutation	SNP	G	G	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr5:93775757G>T	ENST00000513200.3	-	13	2499	c.2427C>A	c.(2425-2427)aaC>aaA	p.N809K	KIAA0825_ENST00000312498.7_Missense_Mutation_p.N809K|KIAA0825_ENST00000427991.2_Missense_Mutation_p.N809K	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	809										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GCAAGTTCCAGTTACAACGTG	0.433																																					p.N809K		Atlas-SNP	.											.	KIAA0825	172	.	0			c.C2427A						.						180.0	153.0	161.0					5																	93775757		692	1591	2283	SO:0001583	missense	285600	exon14			GTTCCAGTTACAA	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2427C>A	chr5.hg19:g.93775757G>T	ENSP00000424618:p.Asn809Lys	357.0	1.0		343.0	115.0	NM_001145678	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000513200.3	hg19		.	.	.	.	.	.	.	.	.	.	G	12.18	1.860379	0.32884	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.52295	0.67;0.67;0.67	5.55	-0.0279	0.13924	.	0.000000	0.64402	D	0.000001	T	0.32675	0.0837	L	0.41961	1.31	0.32503	N	0.538582	B	0.27997	0.197	B	0.28465	0.09	T	0.19647	-1.0299	10	0.35671	T	0.21	.	5.3213	0.15883	0.6002:0.1434:0.2565:0.0	.	809	Q8IV33	K0825_HUMAN	K	809	ENSP00000424618:N809K;ENSP00000400288:N809K;ENSP00000312205:N809K	ENSP00000312205:N809K	N	-	3	2	KIAA0825	93801513	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	1.635000	0.37134	-0.171000	0.10797	-0.670000	0.03821	AAC	.	.		0.433	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665	
WDR36	134430	hgsc.bcm.edu	37	5	110443041	110443041	+	Missense_Mutation	SNP	G	G	C	rs77756277|rs140155952		TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr5:110443041G>C	ENST00000513710.2	+	12	1401	c.1397G>C	c.(1396-1398)gGt>gCt	p.G466A	WDR36_ENST00000505303.1_Missense_Mutation_p.G410A|WDR36_ENST00000506538.2_Missense_Mutation_p.G466A			Q8NI36	WDR36_HUMAN	WD repeat domain 36	466					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGCCATCAAGGTAAGCTATCT	0.358																																					p.G466A		Atlas-SNP	.											.	WDR36	111	.	0			c.G1397C						.						90.0	86.0	87.0					5																	110443041		2202	4299	6501	SO:0001583	missense	134430	exon12			ATCAAGGTAAGCT	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1397G>C	chr5.hg19:g.110443041G>C	ENSP00000424628:p.Gly466Ala	182.0	0.0		176.0	58.0	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	hg19	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335782	0.81801	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.69435	-0.4;-0.4;0.17	4.91	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.144850	0.64402	D	0.000006	T	0.77948	0.4207	M	0.88775	2.98	0.80722	D	1	D	0.59767	0.986	P	0.52031	0.688	T	0.82754	-0.0301	10	0.87932	D	0	-11.6593	11.9142	0.52755	0.0807:0.0:0.9193:0.0	.	466	Q8NI36	WDR36_HUMAN	A	466;466;410	ENSP00000423067:G466A;ENSP00000424628:G466A;ENSP00000422158:G410A	ENSP00000422158:G410A	G	+	2	0	WDR36	110470940	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	6.518000	0.73764	2.436000	0.82500	0.467000	0.42956	GGT	.	G|1.000;A|0.000		0.358	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
TRPC7	57113	hgsc.bcm.edu	37	5	135692611	135692611	+	Silent	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr5:135692611G>A	ENST00000513104.1	-	2	747	c.465C>T	c.(463-465)gaC>gaT	p.D155D	TRPC7_ENST00000355180.3_Silent_p.D155D|TRPC7_ENST00000426057.2_Silent_p.D155D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	155					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCGTCCTCGTCGTAGGCAT	0.662																																					p.D155D		Atlas-SNP	.											.	TRPC7	126	.	0			c.C465T						.						123.0	131.0	128.0					5																	135692611		2203	4300	6503	SO:0001819	synonymous_variant	57113	exon2			GTCCTCGTCGTAG	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.465C>T	chr5.hg19:g.135692611G>A		70.0	0.0		76.0	29.0	NM_001167576	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	hg19	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.575	1.121972	0.20877	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.27	-1.0	0.10196	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.8234	10.075	0.42355	0.589:0.0:0.411:0.0	.	.	.	.	X	155	.	.	R	-	1	2	TRPC7	135720510	0.747000	0.28283	0.983000	0.44433	0.998000	0.95712	-0.005000	0.12855	-0.097000	0.12307	0.655000	0.94253	CGA	.	.		0.662	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
POU4F3	5459	hgsc.bcm.edu	37	5	145719608	145719608	+	Silent	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr5:145719608G>A	ENST00000230732.4	+	2	707	c.618G>A	c.(616-618)gcG>gcA	p.A206A	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	206	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCCAGGCGGACGTGGGCG	0.647																																					p.A206A		Atlas-SNP	.											.	POU4F3	47	.	0			c.G618A						.						39.0	44.0	42.0					5																	145719608		2203	4300	6503	SO:0001819	synonymous_variant	5459	exon2			CCAGGCGGACGTG	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.618G>A	chr5.hg19:g.145719608G>A		98.0	0.0		105.0	38.0	NM_002700	O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	hg19	CCDS4281.1																																																																																			.	.		0.647	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700	
DCDC2	51473	hgsc.bcm.edu	37	6	24291202	24291202	+	Missense_Mutation	SNP	C	C	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr6:24291202C>A	ENST00000378454.3	-	5	963	c.662G>T	c.(661-663)aGt>aTt	p.S221I		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	221	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		S -> G (in dbSNP:rs2274305). {ECO:0000269|PubMed:10574461, ECO:0000269|PubMed:10601354, ECO:0000269|PubMed:15489334}.		cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAGTAACTCACTGTAAGGCAG	0.408																																					p.S221I		Atlas-SNP	.											.	DCDC2	53	.	0			c.G662T						.						126.0	117.0	120.0					6																	24291202		2203	4300	6503	SO:0001583	missense	51473	exon6			AACTCACTGTAAG	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.662G>T	chr6.hg19:g.24291202C>A	ENSP00000367715:p.Ser221Ile	118.0	0.0		136.0	21.0	NM_001195610	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	hg19	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	9.230	1.035561	0.19590	.	.	ENSG00000146038	ENST00000378454	D	0.93763	-3.28	5.48	4.59	0.56863	Doublecortin domain (4);	0.345140	0.33496	N	0.004848	D	0.84915	0.5578	L	0.43152	1.355	0.80722	D	1	B	0.17038	0.02	B	0.18561	0.022	T	0.80953	-0.1152	10	0.22706	T	0.39	-24.4174	15.5503	0.76145	0.0:0.8298:0.1702:0.0	.	221	Q9UHG0	DCDC2_HUMAN	I	221	ENSP00000367715:S221I	ENSP00000367715:S221I	S	-	2	0	DCDC2	24399181	1.000000	0.71417	0.995000	0.50966	0.700000	0.40528	2.512000	0.45485	1.337000	0.45525	0.650000	0.86243	AGT	.	.		0.408	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356	
ABCF1	23	hgsc.bcm.edu	37	6	30558377	30558377	+	Missense_Mutation	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr6:30558377G>A	ENST00000326195.8	+	25	2549	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	ABCF1_ENST00000376545.3_Missense_Mutation_p.E775K|ABCF1_ENST00000396515.4_Missense_Mutation_p.E206K	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	813	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GTGGGTGGTGGAGGAGCAGAG	0.537																																					p.E813K		Atlas-SNP	.											.	ABCF1	61	.	0			c.G2437A						.						326.0	349.0	341.0					6																	30558377		1511	2708	4219	SO:0001583	missense	23	exon25			GTGGTGGAGGAGC	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2437G>A	chr6.hg19:g.30558377G>A	ENSP00000313603:p.Glu813Lys	215.0	0.0		225.0	85.0	NM_001025091	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	hg19	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	g	34	5.349085	0.95830	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000396515	D;D;T	0.91407	-2.66;-2.84;0.95	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.84597	0.5507	L	0.28115	0.83	0.80722	D	1	P;P;P	0.46784	0.884;0.884;0.781	B;P;B	0.44946	0.41;0.465;0.235	D	0.87504	0.2435	10	0.66056	D	0.02	-34.6475	18.1562	0.89692	0.0:0.0:1.0:0.0	.	206;775;813	Q5STZ7;Q2L6I2;Q8NE71	.;.;ABCF1_HUMAN	K	813;775;501;206	ENSP00000313603:E813K;ENSP00000365728:E775K;ENSP00000379772:E206K	ENSP00000313603:E813K	E	+	1	0	ABCF1	30666356	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.166000	0.94766	2.595000	0.87683	0.645000	0.84053	GAG	.	.		0.537	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		
MUT	4594	hgsc.bcm.edu	37	6	49407923	49407923	+	Missense_Mutation	SNP	A	A	T	rs1136145		TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr6:49407923A>T	ENST00000274813.3	-	11	2079	c.1952T>A	c.(1951-1953)tTc>tAc	p.F651Y		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	651	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAGTACCTGGAAAAGAGGGCC	0.368																																					p.F651Y		Atlas-SNP	.											.	MUT	70	.	0			c.T1952A						.						124.0	121.0	122.0					6																	49407923		2203	4300	6503	SO:0001583	missense	4594	exon11			ACCTGGAAAAGAG		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1952T>A	chr6.hg19:g.49407923A>T	ENSP00000274813:p.Phe651Tyr	56.0	0.0		72.0	25.0	NM_000255	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	hg19	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824281	0.90955	.	.	ENSG00000146085	ENST00000274813;ENST00000540138	D	0.96200	-3.94	5.68	5.68	0.88126	Cobalamin (vitamin B12)-binding (4);Methylmalonyl-CoA mutase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99305	1.0902	10	0.87932	D	0	-21.6676	15.1058	0.72322	1.0:0.0:0.0:0.0	.	651	P22033	MUTA_HUMAN	Y	651;98	ENSP00000274813:F651Y	ENSP00000274813:F651Y	F	-	2	0	MUT	49515882	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.962000	0.93254	2.161000	0.67846	0.482000	0.46254	TTC	.	.		0.368	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1		
DDX43	55510	hgsc.bcm.edu	37	6	74121953	74121953	+	Missense_Mutation	SNP	C	C	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr6:74121953C>A	ENST00000370336.4	+	11	1464	c.1306C>A	c.(1306-1308)Cgc>Agc	p.R436S	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	436	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTCAGTTCATCGCCTCGCACA	0.323																																					p.R436S		Atlas-SNP	.											DDX43,middle_lobe,carcinoma,0,1	DDX43	69	.	0			c.C1306A						.						189.0	172.0	178.0					6																	74121953		2203	4300	6503	SO:0001583	missense	55510	exon11			GTTCATCGCCTCG		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1306C>A	chr6.hg19:g.74121953C>A	ENSP00000359361:p.Arg436Ser	126.0	0.0		119.0	65.0	NM_018665	B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	hg19	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616994	0.46736	.	.	ENSG00000080007	ENST00000370336	T	0.15139	2.45	5.22	3.38	0.38709	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15435	0.0372	N	0.17872	0.535	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.03739	-1.1008	10	0.51188	T	0.08	.	14.0177	0.64533	0.2909:0.7091:0.0:0.0	.	436	Q9NXZ2	DDX43_HUMAN	S	436	ENSP00000359361:R436S	ENSP00000359361:R436S	R	+	1	0	DDX43	74178674	1.000000	0.71417	0.988000	0.46212	0.032000	0.12392	4.059000	0.57470	0.645000	0.30675	0.561000	0.74099	CGC	.	.		0.323	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665	
FILIP1	27145	hgsc.bcm.edu	37	6	76022223	76022223	+	Missense_Mutation	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr6:76022223G>A	ENST00000237172.7	-	5	3655	c.3325C>T	c.(3325-3327)Ctt>Ttt	p.L1109F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.L1109F|FILIP1_ENST00000370020.1_Missense_Mutation_p.L1010F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1109										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGAGAGCGAAGGACAGTGCCG	0.542																																					p.L1109F		Atlas-SNP	.											.	FILIP1	173	.	0			c.C3325T						.						221.0	166.0	184.0					6																	76022223		2203	4300	6503	SO:0001583	missense	27145	exon5			AGCGAAGGACAGT	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3325C>T	chr6.hg19:g.76022223G>A	ENSP00000237172:p.Leu1109Phe	231.0	0.0		228.0	85.0	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682928	0.68157	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20881	2.05;2.04;2.05	5.86	5.86	0.93980	.	0.055829	0.64402	D	0.000001	T	0.33352	0.0860	L	0.59436	1.845	0.51767	D	0.999936	D;D;D	0.71674	0.998;0.987;0.985	P;P;P	0.62560	0.904;0.753;0.79	T	0.00496	-1.1705	10	0.35671	T	0.21	-7.7723	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1109;1109;1109	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	1109;1109;1010	ENSP00000376728:L1109F;ENSP00000237172:L1109F;ENSP00000359037:L1010F	ENSP00000237172:L1109F	L	-	1	0	FILIP1	76078943	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.296000	0.51802	2.775000	0.95449	0.655000	0.94253	CTT	.	.		0.542	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
PRDM1	639	hgsc.bcm.edu	37	6	106552764	106552764	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr6:106552764C>T	ENST00000369096.4	+	5	963	c.729C>T	c.(727-729)gtC>gtT	p.V243V	PRDM1_ENST00000369089.3_Silent_p.V109V|PRDM1_ENST00000369091.2_Silent_p.V207V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	243					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAAAGAATGTCCCAAAGAGAG	0.453			"""D, N, Mis, F, S"""		DLBCL																																p.V243V		Atlas-SNP	.		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	.	PRDM1	195	.	0			c.C729T						.						198.0	212.0	207.0					6																	106552764		2203	4300	6503	SO:0001819	synonymous_variant	639	exon5			GAATGTCCCAAAG		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.729C>T	chr6.hg19:g.106552764C>T		167.0	0.0		112.0	41.0	NM_001198	B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	hg19	CCDS5054.2																																																																																			.	.		0.453	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3		
ADCY1	107	hgsc.bcm.edu	37	7	45750131	45750131	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr7:45750131C>T	ENST00000297323.7	+	19	2959	c.2937C>T	c.(2935-2937)atC>atT	p.I979I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	979					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCTAGGCATCAATGTTGGCC	0.577																																					p.I979I		Atlas-SNP	.											.	ADCY1	187	.	0			c.C2937T						.						88.0	83.0	85.0					7																	45750131		2203	4300	6503	SO:0001819	synonymous_variant	107	exon19			AGGCATCAATGTT	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2937C>T	chr7.hg19:g.45750131C>T		109.0	0.0		95.0	38.0	NM_021116	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	hg19	CCDS34631.1																																																																																			.	.		0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
SEMA3D	223117	hgsc.bcm.edu	37	7	84651739	84651739	+	Missense_Mutation	SNP	T	T	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr7:84651739T>A	ENST00000284136.6	-	11	1425	c.1382A>T	c.(1381-1383)gAt>gTt	p.D461V	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	461	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GTACTGGCCATCTTCTGCAAT	0.378																																					p.D461V	Ovarian(63;442 1191 17318 29975 31528)	Atlas-SNP	.											.	SEMA3D	177	.	0			c.A1382T						.						252.0	224.0	234.0					7																	84651739		2203	4300	6503	SO:0001583	missense	223117	exon11			TGGCCATCTTCTG	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1382A>T	chr7.hg19:g.84651739T>A	ENSP00000284136:p.Asp461Val	117.0	0.0		139.0	56.0	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	hg19	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481672	0.84747	.	.	ENSG00000153993	ENST00000284136	T	0.15952	2.38	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	M	0.89287	3.02	0.80722	D	1	D	0.57899	0.981	P	0.59889	0.865	T	0.55829	-0.8079	10	0.87932	D	0	.	15.9171	0.79527	0.0:0.0:0.0:1.0	.	461	O95025	SEM3D_HUMAN	V	461	ENSP00000284136:D461V	ENSP00000284136:D461V	D	-	2	0	SEMA3D	84489675	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.040000	0.89188	2.152000	0.67230	0.455000	0.32223	GAT	.	.		0.378	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
ABCB1	5243	hgsc.bcm.edu	37	7	87195498	87195498	+	Missense_Mutation	SNP	A	A	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr7:87195498A>T	ENST00000265724.3	-	8	1007	c.590T>A	c.(589-591)aTg>aAg	p.M197K	ABCB1_ENST00000543898.1_Missense_Mutation_p.M133K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	197	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AAATGTTGCCATTGACTGAAA	0.383																																					p.M197K		Atlas-SNP	.											.	ABCB1	263	.	0			c.T590A						.						155.0	142.0	147.0					7																	87195498		2203	4300	6503	SO:0001583	missense	5243	exon8			GTTGCCATTGACT	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.590T>A	chr7.hg19:g.87195498A>T	ENSP00000265724:p.Met197Lys	207.0	0.0		164.0	57.0	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430786	0.43122	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.89939	-2.59;-2.59	5.86	5.86	0.93980	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.888482	0.10114	N	0.714267	D	0.90438	0.7006	M	0.73430	2.235	0.21290	N	0.999733	B;B	0.31949	0.348;0.012	B;B	0.37692	0.256;0.035	D	0.84162	0.0429	10	0.62326	D	0.03	-0.0156	12.5051	0.55977	0.8752:0.0:0.0:0.1248	.	133;197	B5AK60;P08183	.;MDR1_HUMAN	K	197;133	ENSP00000265724:M197K;ENSP00000444095:M133K	ENSP00000265724:M197K	M	-	2	0	ABCB1	87033434	0.800000	0.28916	0.667000	0.29798	0.998000	0.95712	3.388000	0.52509	2.240000	0.73641	0.533000	0.62120	ATG	.	.		0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
PSMC2	5701	hgsc.bcm.edu	37	7	103008217	103008217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr7:103008217A>T	ENST00000435765.1	+	12	1516	c.1105A>T	c.(1105-1107)Aga>Tga	p.R369*	SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Nonsense_Mutation_p.R369*|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Nonsense_Mutation_p.R232*	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AAGAGATATCAGATTTGAACT	0.363																																					p.R369X		Atlas-SNP	.											.	PSMC2	38	.	0			c.A1105T						.						104.0	106.0	105.0					7																	103008217		2203	4300	6503	SO:0001587	stop_gained	5701	exon11			GATATCAGATTTG	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1105A>T	chr7.hg19:g.103008217A>T	ENSP00000391211:p.Arg369*	107.0	0.0		101.0	25.0	NM_002803	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Nonsense_Mutation	SNP	ENST00000435765.1	hg19	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815698	0.90790	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	.	.	.	5.1	-0.64	0.11493	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7382	15.3517	0.74393	0.4118:0.5882:0.0:0.0	.	.	.	.	X	369;369;232	.	ENSP00000292644:R369X	R	+	1	2	PSMC2	102795453	0.969000	0.33509	0.994000	0.49952	0.997000	0.91878	1.142000	0.31540	-0.359000	0.08150	0.524000	0.50904	AGA	.	.		0.363	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803	
SMO	6608	hgsc.bcm.edu	37	7	128852200	128852200	+	Missense_Mutation	SNP	T	T	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr7:128852200T>A	ENST00000249373.3	+	12	2552	c.2272T>A	c.(2272-2274)Tgg>Agg	p.W758R	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	758					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CCCCGTGGCATGGGCTCATGG	0.637			Mis		skin basal cell																																p.W758R		Atlas-SNP	.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	.	SMO	145	.	0			c.T2272A						.						39.0	43.0	42.0					7																	128852200		2202	4300	6502	SO:0001583	missense	6608	exon12			GTGGCATGGGCTC	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2272T>A	chr7.hg19:g.128852200T>A	ENSP00000249373:p.Trp758Arg	147.0	0.0		120.0	44.0	NM_005631	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	hg19	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	T	6.709	0.499503	0.12762	.	.	ENSG00000128602	ENST00000249373	T	0.75050	-0.9	5.24	5.24	0.73138	.	0.297293	0.33959	N	0.004389	T	0.57198	0.2037	N	0.19112	0.55	0.36123	D	0.845578	B	0.02656	0.0	B	0.04013	0.001	T	0.59144	-0.7509	10	0.31617	T	0.26	.	8.6726	0.34159	0.1819:0.0:0.0:0.8181	.	758	Q99835	SMO_HUMAN	R	758	ENSP00000249373:W758R	ENSP00000249373:W758R	W	+	1	0	SMO	128639436	0.968000	0.33430	0.999000	0.59377	0.170000	0.22686	1.966000	0.40481	1.973000	0.57446	0.482000	0.46254	TGG	.	.		0.637	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	
DGKI	9162	hgsc.bcm.edu	37	7	137154301	137154301	+	Missense_Mutation	SNP	A	A	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr7:137154301A>G	ENST00000288490.5	-	25	2492	c.2492T>C	c.(2491-2493)cTa>cCa	p.L831P	DGKI_ENST00000453654.2_Missense_Mutation_p.L531P|DGKI_ENST00000446122.1_Missense_Mutation_p.L813P|DGKI_ENST00000424189.2_Missense_Mutation_p.L834P	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	831					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCACCATCTAGGAAGCACCA	0.512																																					p.L831P		Atlas-SNP	.											.	DGKI	335	.	0			c.T2492C						.						121.0	107.0	112.0					7																	137154301		2203	4300	6503	SO:0001583	missense	9162	exon25			CCATCTAGGAAGC	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2492T>C	chr7.hg19:g.137154301A>G	ENSP00000288490:p.Leu831Pro	131.0	0.0		109.0	44.0	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	hg19	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449593	0.84101	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.38560	1.48;1.13;1.34	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.65595	0.2706	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.69491	-0.5131	10	0.72032	D	0.01	.	15.8828	0.79216	1.0:0.0:0.0:0.0	.	531;831	E9PFX6;O75912	.;DGKI_HUMAN	P	531;779;834;831;813	ENSP00000392161:L531P;ENSP00000288490:L831P;ENSP00000399131:L813P	ENSP00000288490:L831P	L	-	2	0	DGKI	136804841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.816000	0.75247	2.152000	0.67230	0.533000	0.62120	CTA	.	.		0.512	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
WDR60	55112	hgsc.bcm.edu	37	7	158715203	158715203	+	Missense_Mutation	SNP	C	C	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr7:158715203C>A	ENST00000407559.3	+	16	2215	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	686					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ATTTGGCAGCCTTCAGGGCCA	0.547																																					p.P686H		Atlas-SNP	.											.	WDR60	94	.	0			c.C2057A						.						69.0	69.0	69.0					7																	158715203		2120	4221	6341	SO:0001583	missense	55112	exon16			GGCAGCCTTCAGG		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2057C>A	chr7.hg19:g.158715203C>A	ENSP00000384290:p.Pro686His	140.0	0.0		115.0	47.0	NM_018051	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	hg19	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430714	0.83776	.	.	ENSG00000126870	ENST00000407559	T	0.66460	-0.21	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86409	0.1747	10	0.87932	D	0	-18.3572	16.3685	0.83344	0.0:1.0:0.0:0.0	.	169;686	A4D230;Q8WVS4	.;WDR60_HUMAN	H	686	ENSP00000384290:P686H	ENSP00000384290:P686H	P	+	2	0	WDR60	158407964	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	5.995000	0.70631	2.439000	0.82584	0.591000	0.81541	CCT	.	.		0.547	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051	
RHOBTB2	23221	hgsc.bcm.edu	37	8	22865129	22865129	+	Silent	SNP	C	C	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr8:22865129C>G	ENST00000251822.6	+	5	1908	c.1371C>G	c.(1369-1371)gtC>gtG	p.V457V	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.V479V|RHOBTB2_ENST00000522948.1_Silent_p.V464V|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	457					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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCTCGAGGTCTTTGATCTGC	0.567																																					p.V479V		Atlas-SNP	.											.	RHOBTB2	67	.	0			c.C1437G						.						132.0	125.0	128.0					8																	22865129		2203	4300	6503	SO:0001819	synonymous_variant	23221	exon7			CGAGGTCTTTGAT	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1371C>G	chr8.hg19:g.22865129C>G		94.0	0.0		55.0	32.0	NM_001160036	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	hg19	CCDS6034.1																																																																																			.	.		0.567	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2		
NUGGC	389643	hgsc.bcm.edu	37	8	27888861	27888861	+	Missense_Mutation	SNP	T	T	C			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr8:27888861T>C	ENST00000413272.2	-	15	1949	c.1807A>G	c.(1807-1809)Ata>Gta	p.I603V	NUGGC_ENST00000341513.6_Missense_Mutation_p.I603V	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	603					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AAAGCATCTATGTGAGGCATC	0.438																																					p.I603V		Atlas-SNP	.											.	.	.	.	0			c.A1807G						.						102.0	103.0	103.0					8																	27888861		1884	4118	6002	SO:0001583	missense	389643	exon15			CATCTATGTGAGG	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1807A>G	chr8.hg19:g.27888861T>C	ENSP00000408697:p.Ile603Val	131.0	0.0		57.0	10.0	NM_001010906	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	hg19	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	T	9.032	0.987417	0.18889	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.35236	1.32;1.32	5.23	1.26	0.21427	.	0.221629	0.39083	N	0.001475	T	0.19167	0.0460	L	0.27053	0.805	0.27229	N	0.959447	B	0.31077	0.307	B	0.28385	0.089	T	0.11446	-1.0587	10	0.25751	T	0.34	-13.9874	5.3838	0.16206	0.0:0.0912:0.3449:0.564	.	603	Q68CJ6	SLIP_HUMAN	V	603	ENSP00000408697:I603V;ENSP00000345031:I603V	ENSP00000345031:I603V	I	-	1	0	C8orf80	27944780	0.972000	0.33761	0.851000	0.33527	0.255000	0.26057	0.183000	0.16919	0.304000	0.22809	-0.291000	0.09656	ATA	.	.		0.438	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
MCM4	4173	hgsc.bcm.edu	37	8	48883070	48883070	+	Splice_Site	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr8:48883070G>A	ENST00000262105.2	+	11	1643		c.e11-1		MCM4_ENST00000523944.1_Splice_Site|MCM4_ENST00000518680.1_Splice_Site	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGATTATTTAGGGAATTTTGC	0.398																																					.		Atlas-SNP	.											.	MCM4	97	.	0			c.1435-1G>A						.						99.0	102.0	101.0					8																	48883070		2203	4300	6503	SO:0001630	splice_region_variant	4173	exon12			TATTTAGGGAATT		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1435-1G>A	chr8.hg19:g.48883070G>A		114.0	0.0		246.0	12.0	NM_182746	Q8NEH1|Q99658	Splice_Site	SNP	ENST00000262105.2	hg19	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905243	0.72868	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCM4	49045623	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.397000	0.97276	2.941000	0.99782	0.655000	0.94253	.	.	.		0.398	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	Intron
ATAD2	29028	hgsc.bcm.edu	37	8	124369923	124369923	+	Missense_Mutation	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr8:124369923G>A	ENST00000287394.5	-	12	1543	c.1436C>T	c.(1435-1437)gCa>gTa	p.A479V	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	479					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTGGCAAGTGCTCTGGCAAC	0.388																																					p.A479V		Atlas-SNP	.											.	ATAD2	160	.	0			c.C1436T						.						97.0	87.0	90.0					8																	124369923		2203	4300	6503	SO:0001583	missense	29028	exon12			GCAAGTGCTCTGG	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1436C>T	chr8.hg19:g.124369923G>A	ENSP00000287394:p.Ala479Val	137.0	0.0		237.0	42.0	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	hg19	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700017	0.96802	.	.	ENSG00000156802	ENST00000287394	D	0.96011	-3.88	5.77	5.77	0.91146	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.97172	0.9845	10	0.66056	D	0.02	-21.5766	20.3626	0.98863	0.0:0.0:1.0:0.0	.	309;479	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	V	479	ENSP00000287394:A479V	ENSP00000287394:A479V	A	-	2	0	ATAD2	124439104	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.851000	0.86920	2.885000	0.99019	0.655000	0.94253	GCA	.	.		0.388	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
BAI1	575	hgsc.bcm.edu	37	8	143624960	143624960	+	Splice_Site	SNP	A	A	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr8:143624960A>G	ENST00000517894.1	+	30	5343		c.e30-1		BAI1_ENST00000323289.5_Splice_Site			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCCCGCCTGCAGAAGATCATG	0.687																																					.		Atlas-SNP	.											.	BAI1	146	.	0			c.4450-2A>G						.						22.0	27.0	26.0					8																	143624960		2056	4186	6242	SO:0001630	splice_region_variant	575	exon29			GCCTGCAGAAGAT	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4450-1A>G	chr8.hg19:g.143624960A>G		429.0	0.0		784.0	258.0	NM_001702		Splice_Site	SNP	ENST00000517894.1	hg19		.	.	.	.	.	.	.	.	.	.	A	19.75	3.885718	0.72410	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8463	0.57831	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAI1	143621962	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	8.617000	0.90927	1.635000	0.50512	0.459000	0.35465	.	.	.		0.687	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702	Intron
WNK2	65268	hgsc.bcm.edu	37	9	96070795	96070795	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr9:96070795C>T	ENST00000297954.4	+	28	6556	c.6556C>T	c.(6556-6558)Ctg>Ttg	p.L2186L	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Silent_p.L1761L|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Silent_p.L1798L|WNK2_ENST00000395477.2_Silent_p.L2149L	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2186					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCTCAACCAGCTGAAGCAGAC	0.677																																					p.L2149L		Atlas-SNP	.											.	WNK2	277	.	0			c.C6445T						.						57.0	43.0	47.0					9																	96070795		2201	4294	6495	SO:0001819	synonymous_variant	65268	exon27			AACCAGCTGAAGC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6556C>T	chr9.hg19:g.96070795C>T		267.0	0.0		263.0	37.0	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	hg19		.	.	.	.	.	.	.	.	.	.	C	10.14	1.268853	0.23136	.	.	ENSG00000165238	ENST00000411624	.	.	.	5.55	3.61	0.41365	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53078	-0.8489	4	.	.	.	.	9.0476	0.36356	0.0:0.7656:0.0:0.2344	.	.	.	.	V	1640	.	.	A	+	2	0	WNK2	95110616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.147000	0.50639	0.622000	0.30249	0.655000	0.94253	GCT	.	.		0.677	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
CELF2	10659	hgsc.bcm.edu	37	10	11330509	11330509	+	Missense_Mutation	SNP	A	A	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr10:11330509A>G	ENST00000379261.4	+	9	1041	c.949A>G	c.(949-951)Agt>Ggt	p.S317G	CELF2_ENST00000315874.4_Missense_Mutation_p.S293G|CELF2_ENST00000399850.3_Missense_Mutation_p.S293G|CELF2_ENST00000450189.1_Missense_Mutation_p.S324G|CELF2_ENST00000542579.1_Missense_Mutation_p.S324G|CELF2_ENST00000608830.1_Missense_Mutation_p.S293G|CELF2_ENST00000609692.1_Missense_Mutation_p.S293G|CELF2_ENST00000537122.1_Missense_Mutation_p.S206G|CELF2_ENST00000354440.2_Missense_Mutation_p.S293G|CELF2_ENST00000427450.1_Missense_Mutation_p.S293G|CELF2_ENST00000416382.2_Missense_Mutation_p.S317G|CELF2_ENST00000354897.3_Missense_Mutation_p.S293G|CELF2_ENST00000417956.2_Missense_Mutation_p.S293G	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	317	Ala-rich.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AGCCCTCACGAGTCCCGGTGA	0.657																																					p.S324G		Atlas-SNP	.											.	CELF2	78	.	0			c.A970G						.						26.0	29.0	28.0					10																	11330509		2046	4189	6235	SO:0001583	missense	10659	exon9			CTCACGAGTCCCG	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.949A>G	chr10.hg19:g.11330509A>G	ENSP00000368563:p.Ser317Gly	43.0	0.0		36.0	15.0	NM_006561	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	hg19	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119646	0.56613	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.72	4.72	0.59763	.	0.135911	0.64402	D	0.000004	T	0.61825	0.2378	L	0.56124	1.755	0.80722	D	1	B;B;P;B;P;B;B	0.52577	0.002;0.003;0.954;0.001;0.779;0.012;0.002	B;B;D;B;B;B;B	0.63597	0.004;0.005;0.916;0.003;0.191;0.027;0.004	T	0.64774	-0.6328	10	0.62326	D	0.03	-12.4685	14.2274	0.65868	1.0:0.0:0.0:0.0	.	301;317;89;312;324;312;317	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	G	317;317;324;324;293;293;293;293;293;293;206;123	ENSP00000368563:S317G;ENSP00000406451:S317G;ENSP00000389951:S324G;ENSP00000443926:S324G;ENSP00000382743:S293G;ENSP00000404834:S293G;ENSP00000315328:S293G;ENSP00000346426:S293G;ENSP00000388530:S293G;ENSP00000438884:S206G	ENSP00000315328:S293G	S	+	1	0	CELF2	11370515	1.000000	0.71417	0.961000	0.40146	0.806000	0.45545	8.359000	0.90093	1.770000	0.52166	0.377000	0.23210	AGT	.	.		0.657	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
PARG	8505	hgsc.bcm.edu	37	10	51028218	51028218	+	Silent	SNP	G	G	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr10:51028218G>T	ENST00000402038.3	-	13	1313	c.1314C>A	c.(1312-1314)ctC>ctA	p.L438L		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	923	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TACCAACAGTGAGTTTCCTTT	0.428																																					p.L923L		Atlas-SNP	.											.	PARG	46	.	0			c.C2769A						.						128.0	106.0	112.0					10																	51028218		692	1591	2283	SO:0001819	synonymous_variant	8505	exon17			AACAGTGAGTTTC	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.1314C>A	chr10.hg19:g.51028218G>T		142.0	0.0		134.0	10.0	NM_003631	A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Silent	SNP	ENST00000402038.3	hg19		.	.	.	.	.	.	.	.	.	.	G	8.675	0.903845	0.17760	.	.	ENSG00000227345	ENST00000432127	.	.	.	6.03	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0507	0.9853	0.01445	0.1591:0.3564:0.1386:0.3458	.	.	.	.	X	139	.	.	S	-	2	0	PARG	50698224	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	0.937000	0.28951	0.080000	0.16959	-0.302000	0.09304	TCA	.	.		0.428	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631	
TACC2	10579	hgsc.bcm.edu	37	10	123903126	123903126	+	Silent	SNP	G	G	C	rs145822203	byFrequency	TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr10:123903126G>C	ENST00000369005.1	+	7	6079	c.5739G>C	c.(5737-5739)tcG>tcC	p.S1913S	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000334433.3_Silent_p.S1913S|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000453444.2_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1913					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTCCTCCCTCGGCTGCAGAAC	0.562											OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S1913S		Atlas-SNP	.											.	TACC2	271	.	0			c.G5739C						.						102.0	89.0	93.0					10																	123903126		2203	4300	6503	SO:0001819	synonymous_variant	10579	exon7			TCCCTCGGCTGCA	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5739G>C	chr10.hg19:g.123903126G>C		89.0	0.0	1530	67.0	18.0	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	hg19	CCDS7626.1																																																																																			.	G|0.999;A|0.001		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
TACC2	10579	hgsc.bcm.edu	37	10	123969922	123969922	+	Silent	SNP	T	T	C			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr10:123969922T>C	ENST00000369005.1	+	9	6322	c.5982T>C	c.(5980-5982)tcT>tcC	p.S1994S	TACC2_ENST00000513429.1_Silent_p.S140S|TACC2_ENST00000358010.1_Silent_p.S140S|TACC2_ENST00000360561.3_Silent_p.S72S|TACC2_ENST00000515273.1_Silent_p.S1998S|TACC2_ENST00000368999.1_Silent_p.S72S|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000515603.1_Silent_p.S1949S|TACC2_ENST00000334433.3_Silent_p.S1994S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Silent_p.S72S|TACC2_ENST00000369004.3_Silent_p.S72S|TACC2_ENST00000453444.2_Silent_p.S1998S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1994	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GATGTGGTTCTGAGACAGTCC	0.562																																					p.S1994S		Atlas-SNP	.											.	TACC2	271	.	0			c.T5982C						.						132.0	102.0	112.0					10																	123969922		2203	4300	6503	SO:0001819	synonymous_variant	10579	exon9			TGGTTCTGAGACA	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5982T>C	chr10.hg19:g.123969922T>C		175.0	0.0		159.0	60.0	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	hg19	CCDS7626.1																																																																																			.	.		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
LDHAL6A	160287	hgsc.bcm.edu	37	11	18500385	18500385	+	Missense_Mutation	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr11:18500385C>T	ENST00000280706.2	+	7	1764	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.L323F|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	323					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						TGCAGAAACACTTTGGGAAAT	0.378																																					p.L323F		Atlas-SNP	.											.	LDHAL6A	35	.	0			c.C967T						.						144.0	156.0	152.0					11																	18500385		2199	4293	6492	SO:0001583	missense	160287	exon7			GAAACACTTTGGG	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.967C>T	chr11.hg19:g.18500385C>T	ENSP00000280706:p.Leu323Phe	66.0	0.0		68.0	23.0	NM_144972	D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	hg19	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739520	0.30774	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.83163	-1.69;-1.69	4.06	3.14	0.36123	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.53938	U	0.000048	D	0.92397	0.7587	H	0.97186	3.955	0.49389	D	0.999784	D	0.71674	0.998	D	0.68765	0.96	D	0.91182	0.4977	10	0.87932	D	0	.	7.1979	0.25864	0.0:0.79:0.0:0.21	.	323	Q6ZMR3	LDH6A_HUMAN	F	323	ENSP00000379516:L323F;ENSP00000280706:L323F	ENSP00000280706:L323F	L	+	1	0	LDHAL6A	18456961	0.253000	0.23982	0.050000	0.19076	0.049000	0.14656	0.345000	0.19979	0.699000	0.31761	0.555000	0.69702	CTT	.	.		0.378	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972	
UBASH3B	84959	hgsc.bcm.edu	37	11	122671897	122671897	+	Splice_Site	SNP	T	T	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr11:122671897T>G	ENST00000284273.5	+	11	1827	c.1452T>G	c.(1450-1452)ggT>ggG	p.G484G		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	484	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ACCCCTAAGGTTTACAACAAG	0.408																																					p.G484G		Atlas-SNP	.											.	UBASH3B	73	.	0			c.T1452G						.						96.0	96.0	96.0					11																	122671897		2202	4299	6501	SO:0001630	splice_region_variant	84959	exon11			CTAAGGTTTACAA	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1451-1T>G	chr11.hg19:g.122671897T>G		113.0	0.0		121.0	49.0	NM_032873	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	hg19	CCDS31694.1																																																																																			.	.		0.408	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	Silent
NECAP1	25977	hgsc.bcm.edu	37	12	8248299	8248299	+	Splice_Site	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr12:8248299G>A	ENST00000339754.5	+	7	857	c.779G>A	c.(778-780)aGc>aAc	p.S260N		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	260					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		ACTGCCTCCAGGTAATGGGCA	0.448																																					p.S260N		Atlas-SNP	.											.	NECAP1	21	.	0			c.G779A						.						90.0	83.0	86.0					12																	8248299		2203	4300	6503	SO:0001630	splice_region_variant	25977	exon7			CCTCCAGGTAATG	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.779+1G>A	chr12.hg19:g.8248299G>A		48.0	0.0		44.0	16.0	NM_015509	Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Missense_Mutation	SNP	ENST00000339754.5	hg19	CCDS8589.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446102	0.43429	.	.	ENSG00000089818	ENST00000545179;ENST00000339754;ENST00000540291	T	0.32023	1.47	4.62	3.73	0.42828	.	0.108036	0.64402	D	0.000010	T	0.31199	0.0789	M	0.62723	1.935	0.80722	D	1	P	0.43352	0.804	B	0.42851	0.4	T	0.04522	-1.0945	10	0.33141	T	0.24	.	8.6992	0.34316	0.103:0.0:0.897:0.0	.	260	Q8NC96	NECP1_HUMAN	N	260;260;118	ENSP00000341737:S260N	ENSP00000341737:S260N	S	+	2	0	NECAP1	8139566	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	4.271000	0.58902	1.162000	0.42619	0.591000	0.81541	AGC	.	.		0.448	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509	Missense_Mutation
PTPRQ	374462	hgsc.bcm.edu	37	12	80889873	80889873	+	Missense_Mutation	SNP	A	A	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr12:80889873A>G	ENST00000266688.5	+	18	1966	c.1966A>G	c.(1966-1968)Act>Gct	p.T656A				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	702	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CTTTGTGAGAACTTCAGAAGA	0.358																																					p.T488A		Atlas-SNP	.											.	PTPRQ	119	.	0			c.A1462G						.						101.0	94.0	96.0					12																	80889873		692	1591	2283	SO:0001583	missense	374462	exon10			GTGAGAACTTCAG	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.1966A>G	chr12.hg19:g.80889873A>G	ENSP00000266688:p.Thr656Ala	288.0	0.0		256.0	31.0	NM_001145026		Missense_Mutation	SNP	ENST00000266688.5	hg19		.	.	.	.	.	.	.	.	.	.	A	17.42	3.386363	0.61956	.	.	ENSG00000139304	ENST00000266688	T	0.56103	0.48	5.93	5.93	0.95920	Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62648	0.2445	.	.	.	0.58432	D	0.999996	D	0.58970	0.984	P	0.52758	0.708	T	0.61816	-0.6985	8	0.37606	T	0.19	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	702	Q9UMZ3	PTPRQ_HUMAN	A	656	ENSP00000266688:T656A	ENSP00000266688:T656A	T	+	1	0	PTPRQ	79414004	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	8.416000	0.90244	2.281000	0.76405	0.533000	0.62120	ACT	.	.		0.358	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
CCDC60	160777	hgsc.bcm.edu	37	12	119909936	119909936	+	Missense_Mutation	SNP	T	T	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr12:119909936T>A	ENST00000327554.2	+	3	773	c.308T>A	c.(307-309)aTc>aAc	p.I103N	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	103										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCCGAAAAGATCTCAGAAATC	0.438																																					p.I103N		Atlas-SNP	.											.	CCDC60	84	.	0			c.T308A						.						167.0	173.0	171.0					12																	119909936		2203	4300	6503	SO:0001583	missense	160777	exon3			AAAAGATCTCAGA	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.308T>A	chr12.hg19:g.119909936T>A	ENSP00000333374:p.Ile103Asn	161.0	0.0		139.0	43.0	NM_178499		Missense_Mutation	SNP	ENST00000327554.2	hg19	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429850	0.25726	.	.	ENSG00000183273	ENST00000327554	T	0.23950	1.88	5.22	-2.85	0.05734	.	2.298030	0.01590	N	0.021516	T	0.19565	0.0470	L	0.36672	1.1	0.09310	N	1	P	0.40834	0.73	B	0.39258	0.295	T	0.25117	-1.0141	9	.	.	.	0.0784	5.1906	0.15207	0.493:0.0849:0.0:0.4221	.	103	Q8IWA6	CCD60_HUMAN	N	103	ENSP00000333374:I103N	.	I	+	2	0	CCDC60	118394319	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-0.186000	0.09670	-0.032000	0.13758	0.334000	0.21626	ATC	.	.		0.438	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
ACIN1	22985	hgsc.bcm.edu	37	14	23549129	23549129	+	Missense_Mutation	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr14:23549129G>A	ENST00000262710.1	-	6	1916	c.1589C>T	c.(1588-1590)cCt>cTt	p.P530L	ACIN1_ENST00000605057.1_Missense_Mutation_p.P472L|ACIN1_ENST00000457657.1_Missense_Mutation_p.P490L|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.P530L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	530					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AATTTTTAGAGGGAGGGGCTG	0.488																																					p.P530L		Atlas-SNP	.											.	ACIN1	147	.	0			c.C1589T						.						121.0	128.0	126.0					14																	23549129		2203	4300	6503	SO:0001583	missense	22985	exon6			TTTAGAGGGAGGG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1589C>T	chr14.hg19:g.23549129G>A	ENSP00000262710:p.Pro530Leu	92.0	0.0		66.0	27.0	NM_001164814	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	hg19	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330399	0.24167	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.24538	1.85;1.85;1.85	5.42	3.62	0.41486	.	0.183676	0.26919	N	0.021827	T	0.14960	0.0361	N	0.24115	0.695	0.45342	D	0.998339	P;P;P	0.44734	0.763;0.651;0.842	B;B;B	0.37144	0.242;0.122;0.196	T	0.03175	-1.1064	10	0.87932	D	0	-0.5614	8.0748	0.30710	0.1796:0.0:0.8204:0.0	.	530;530;490	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	L	530;490;530	ENSP00000262710:P530L;ENSP00000405677:P490L;ENSP00000451328:P530L	ENSP00000262710:P530L	P	-	2	0	ACIN1	22618969	0.943000	0.32029	0.984000	0.44739	0.723000	0.41478	1.933000	0.40153	0.871000	0.35750	-0.142000	0.14014	CCT	.	.		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
HECTD1	25831	hgsc.bcm.edu	37	14	31613412	31613412	+	Missense_Mutation	SNP	T	T	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr14:31613412T>A	ENST00000399332.1	-	17	3171	c.2683A>T	c.(2683-2685)Aac>Tac	p.N895Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.N895Y|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	895					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACAATTAGGTTTTCTAAAGCT	0.318																																					p.N895Y		Atlas-SNP	.											.	HECTD1	159	.	0			c.A2683T						.						43.0	42.0	42.0					14																	31613412		1813	4069	5882	SO:0001583	missense	25831	exon17			TTAGGTTTTCTAA	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2683A>T	chr14.hg19:g.31613412T>A	ENSP00000382269:p.Asn895Tyr	247.0	0.0		235.0	35.0	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380244	0.82682	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.64991	-0.13;-0.13;1.51;-0.13	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.59128	0.2171	L	0.34521	1.04	0.80722	D	1	D;D	0.58970	0.984;0.971	P;P	0.47299	0.527;0.543	T	0.64253	-0.6451	10	0.66056	D	0.02	-10.7488	15.8889	0.79276	0.0:0.0:0.0:1.0	.	895;895	D3DS86;Q9ULT8	.;HECD1_HUMAN	Y	895;895;895;369;895	ENSP00000450697:N895Y;ENSP00000382269:N895Y;ENSP00000451860:N369Y;ENSP00000452015:N895Y	ENSP00000261312:N895Y	N	-	1	0	HECTD1	30683163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.160000	0.64929	2.143000	0.66587	0.533000	0.62120	AAC	.	.		0.318	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
NID2	22795	hgsc.bcm.edu	37	14	52535631	52535631	+	Missense_Mutation	SNP	C	C	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr14:52535631C>G	ENST00000216286.5	-	1	81	c.82G>C	c.(82-84)Gcc>Ccc	p.A28P	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	28					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGCGCCGCGGCCCGCAACATT	0.687																																					p.A28P		Atlas-SNP	.											.	NID2	201	.	0			c.G82C						.						50.0	47.0	48.0					14																	52535631		2203	4300	6503	SO:0001583	missense	22795	exon1			CCGCGGCCCGCAA	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.82G>C	chr14.hg19:g.52535631C>G	ENSP00000216286:p.Ala28Pro	276.0	0.0		225.0	83.0	NM_007361	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	hg19	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648681	0.47258	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000395707	T	0.23348	1.91	4.66	2.81	0.32909	.	0.613341	0.17065	N	0.188403	T	0.23094	0.0558	L	0.49350	1.555	0.21627	N	0.999619	P;P	0.48407	0.91;0.61	B;B	0.44315	0.446;0.193	T	0.07366	-1.0776	10	0.34782	T	0.22	.	6.0297	0.19673	0.3268:0.5812:0.0:0.092	.	30;28	Q5CZI2;Q14112	.;NID2_HUMAN	P	28;28;30	ENSP00000216286:A28P	ENSP00000216286:A28P	A	-	1	0	NID2	51605381	0.003000	0.15002	0.010000	0.14722	0.161000	0.22273	0.952000	0.29149	0.964000	0.38108	-0.385000	0.06624	GCC	.	.		0.687	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
YLPM1	56252	hgsc.bcm.edu	37	14	75265439	75265439	+	Missense_Mutation	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr14:75265439C>T	ENST00000325680.7	+	5	3563	c.3439C>T	c.(3439-3441)Cct>Tct	p.P1147S	YLPM1_ENST00000238571.3_Missense_Mutation_p.P952S|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	952	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGAGGACCACCTCGAGGGCC	0.572																																					p.P1147S		Atlas-SNP	.											.	YLPM1	298	.	0			c.C3439T						.						48.0	52.0	51.0					14																	75265439		1891	4116	6007	SO:0001583	missense	56252	exon5			GGACCACCTCGAG	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3439C>T	chr14.hg19:g.75265439C>T	ENSP00000324463:p.Pro1147Ser	152.0	0.0		163.0	61.0	NM_019589	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	hg19	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013265	0.35511	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.56	4.66	0.58398	.	0.502190	0.20108	N	0.099079	T	0.39253	0.1071	L	0.58101	1.795	0.29458	N	0.857975	B	0.20671	0.047	B	0.18561	0.022	T	0.34129	-0.9841	9	0.30854	T	0.27	-6.9576	5.0184	0.14349	0.1321:0.5925:0.1956:0.0798	.	1147	P49750-4	.	S	1147;952;860	.	ENSP00000238571:P952S	P	+	1	0	YLPM1	74335192	0.358000	0.24947	0.855000	0.33649	0.950000	0.60333	0.637000	0.24659	1.321000	0.45227	0.551000	0.68910	CCT	.	.		0.572	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589	
BCL11B	64919	hgsc.bcm.edu	37	14	99640842	99640842	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr14:99640842C>T	ENST00000357195.3	-	4	2340	c.2331G>A	c.(2329-2331)ccG>ccA	p.P777P	BCL11B_ENST00000443726.2_Silent_p.P583P|BCL11B_ENST00000345514.2_Silent_p.P706P	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	777					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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 positive regulation of transcription (GO:0001077)	p.P777P(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cgcccAGGTGCGGGGTGCTGC	0.746			T	TLX3	T-ALL																																p.P777P		Atlas-SNP	.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	BCL11B,brain,glioma,0,1	BCL11B	108	.	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G2331A						.						3.0	3.0	3.0					14																	99640842		1615	3348	4963	SO:0001819	synonymous_variant	64919	exon4			CAGGTGCGGGGTG	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2331G>A	chr14.hg19:g.99640842C>T		21.0	1.0		25.0	8.0	NM_138576	Q9H162	Silent	SNP	ENST00000357195.3	hg19	CCDS9950.1																																																																																			.	.		0.746	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
BMF	90427	hgsc.bcm.edu	37	15	40398071	40398071	+	Missense_Mutation	SNP	G	G	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr15:40398071G>T	ENST00000354670.4	-	3	451	c.217C>A	c.(217-219)Ctc>Atc	p.L73I	BMF_ENST00000220446.4_Missense_Mutation_p.L73I|BMF_ENST00000558057.1_5'Flank|BMF_ENST00000561282.1_Missense_Mutation_p.L73I|BMF_ENST00000397573.1_Missense_Mutation_p.L73I|BMF_ENST00000561360.1_Missense_Mutation_p.L73I|BMF_ENST00000558774.1_Missense_Mutation_p.L73I|BMF_ENST00000431415.3_Missense_Mutation_p.L73I|BMF_ENST00000559701.1_Missense_Mutation_p.L73I	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	73	Interaction with DLC2. {ECO:0000250}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GCTGGGCTGAGAGTCTGGGTA	0.607																																					p.L73I		Atlas-SNP	.											.	BMF	18	.	0			c.C217A						.						73.0	78.0	76.0					15																	40398071		2203	4300	6503	SO:0001583	missense	90427	exon3			GGCTGAGAGTCTG	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.217C>A	chr15.hg19:g.40398071G>T	ENSP00000346697:p.Leu73Ile	104.0	0.0		89.0	36.0	NM_001003943	Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Missense_Mutation	SNP	ENST00000354670.4	hg19	CCDS10052.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501362	0.85176	.	.	ENSG00000104081	ENST00000354670;ENST00000397573;ENST00000431415;ENST00000220446	.	.	.	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000005	T	0.68348	0.2991	L	0.34521	1.04	0.48762	D	0.999707	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.80764	0.986;0.994;0.994	T	0.71537	-0.4563	9	0.87932	D	0	-6.6255	18.7373	0.91759	0.0:0.0:1.0:0.0	.	73;73;73	Q96LC9;Q96LC9-3;Q96LC9-2	BMF_HUMAN;.;.	I	73	.	ENSP00000220446:L73I	L	-	1	0	BMF	38185363	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.687000	0.61708	2.664000	0.90586	0.561000	0.74099	CTC	.	.		0.607	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503	
UNC13C	440279	hgsc.bcm.edu	37	15	54305886	54305886	+	Silent	SNP	A	A	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr15:54305886A>G	ENST00000260323.11	+	1	786	c.786A>G	c.(784-786)gaA>gaG	p.E262E	UNC13C_ENST00000545554.1_Silent_p.E262E|UNC13C_ENST00000537900.1_Silent_p.E262E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	262					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACTTTCTGAACTACGAGGGC	0.453																																					p.E262E		Atlas-SNP	.											.	UNC13C	674	.	0			c.A786G						.						85.0	84.0	84.0					15																	54305886		1969	4160	6129	SO:0001819	synonymous_variant	440279	exon1			TTCTGAACTACGA	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.786A>G	chr15.hg19:g.54305886A>G		91.0	0.0		75.0	25.0	NM_001080534	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	hg19	CCDS45264.1																																																																																			.	.		0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
LRRK1	79705	hgsc.bcm.edu	37	15	101593240	101593240	+	Missense_Mutation	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr15:101593240C>T	ENST00000388948.3	+	25	4162	c.3803C>T	c.(3802-3804)gCc>gTc	p.A1268V	LRRK1_ENST00000284395.5_Missense_Mutation_p.A1265V|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCCTGTGGCCGTCAAGCGC	0.597																																					p.A1268V		Atlas-SNP	.											.	LRRK1	310	.	0			c.C3803T						.						41.0	50.0	47.0					15																	101593240		2088	4234	6322	SO:0001583	missense	79705	exon25			CTGTGGCCGTCAA	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3803C>T	chr15.hg19:g.101593240C>T	ENSP00000373600:p.Ala1268Val	160.0	0.0		129.0	42.0	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678435	0.68042	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	D;D	0.97976	-4.64;-4.64	5.12	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061192	0.64402	N	0.000004	D	0.97739	0.9258	M	0.78049	2.395	0.49687	D	0.999812	P	0.47034	0.889	P	0.50825	0.651	D	0.97871	1.0286	10	0.87932	D	0	.	13.8433	0.63453	0.0:0.9257:0.0:0.0743	.	1268	Q38SD2	LRRK1_HUMAN	V	1268;1265	ENSP00000373600:A1268V;ENSP00000284395:A1265V	ENSP00000284395:A1265V	A	+	2	0	LRRK1	99410763	1.000000	0.71417	0.637000	0.29366	0.134000	0.20937	7.600000	0.82769	1.281000	0.44480	0.650000	0.86243	GCC	.	.		0.597	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
RHOT2	89941	hgsc.bcm.edu	37	16	723032	723032	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr16:723032C>T	ENST00000315082.4	+	18	1746	c.1632C>T	c.(1630-1632)cgC>cgT	p.R544R	RHBDL1_ENST00000352681.3_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	544	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGTTTTGCCGCAAGCACCGGC	0.667																																					p.R544R		Atlas-SNP	.											.	RHOT2	35	.	0			c.C1632T						.						56.0	53.0	54.0					16																	723032		2191	4294	6485	SO:0001819	synonymous_variant	89941	exon18			TTGCCGCAAGCAC	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1632C>T	chr16.hg19:g.723032C>T		121.0	0.0		111.0	37.0	NM_138769	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	hg19	CCDS10417.1																																																																																			.	.		0.667	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769	
NAA60	79903	hgsc.bcm.edu	37	16	3534783	3534783	+	Missense_Mutation	SNP	C	C	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr16:3534783C>A	ENST00000407558.4	+	7	960	c.657C>A	c.(655-657)agC>agA	p.S219R	NAA60_ENST00000572942.1_Missense_Mutation_p.A120D|NAA60_ENST00000424546.2_Missense_Mutation_p.S226R|NAA60_ENST00000575076.1_Missense_Mutation_p.S219R|NAA60_ENST00000570819.1_Missense_Mutation_p.A120D|NAA60_ENST00000610180.1_Missense_Mutation_p.S219R|NAA60_ENST00000577013.1_Missense_Mutation_p.S111R|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000576916.1_Missense_Mutation_p.S111R|NAA60_ENST00000360862.5_Missense_Mutation_p.S154R|NAA60_ENST00000414063.2_Missense_Mutation_p.S219R|NAA60_ENST00000573580.1_Missense_Mutation_p.S154R|NAA60_ENST00000608722.1_Missense_Mutation_p.S219R|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000421765.3_Missense_Mutation_p.P144T|NAA60_ENST00000608993.1_Missense_Mutation_p.S154R|NAA60_ENST00000572584.1_Missense_Mutation_p.S219R			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	219					cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						AGGCCCACAGCCTGCTCTGCA	0.637																																					p.S219R		Atlas-SNP	.											.	NAA60	21	.	0			c.C657A						.						18.0	23.0	21.0					16																	3534783		2071	4210	6281	SO:0001583	missense	79903	exon6			CCACAGCCTGCTC		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.657C>A	chr16.hg19:g.3534783C>A	ENSP00000385903:p.Ser219Arg	123.0	0.0		100.0	40.0	NM_001083600	B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	hg19	CCDS45396.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.213467|4.213467	0.79352|0.79352	.|.	.|.	ENSG00000122390|ENSG00000122390	ENST00000421765|ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	.|T;T;T;T	.|0.49139	.|0.79;0.83;0.83;0.83	5.84|5.84	4.7|4.7	0.59300|0.59300	.|.	.|0.144746	.|0.64402	.|D	.|0.000008	T|T	0.33030|0.33030	0.0849|0.0849	N|N	0.24115|0.24115	0.695|0.695	0.38529|0.38529	D|D	0.948918|0.948918	.|B	.|0.19583	.|0.037	.|B	.|0.17098	.|0.017	T|T	0.17258|0.17258	-1.0375|-1.0375	6|10	0.02654|0.41790	T|T	1|0.15	-2.0563|-2.0563	11.2831|11.2831	0.49206|0.49206	0.0:0.8468:0.0:0.1532|0.0:0.8468:0.0:0.1532	.|.	.|219	.|Q9H7X0	.|NAA60_HUMAN	T|R	144|226;219;219;154	.|ENSP00000401237:S226R;ENSP00000385903:S219R;ENSP00000393224:S219R;ENSP00000354108:S154R	ENSP00000405873:P144T|ENSP00000354108:S154R	P|S	+|+	1|3	0|2	NAA60|NAA60	3474784|3474784	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.733000|0.733000	0.26087|0.26087	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	CCT|AGC	.	.		0.637	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845	
RPH3AL	9501	hgsc.bcm.edu	37	17	63676	63676	+	Silent	SNP	T	T	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr17:63676T>A	ENST00000331302.7	-	10	1222	c.915A>T	c.(913-915)gcA>gcT	p.A305A	RPH3AL_ENST00000536489.2_Silent_p.A276A|RPH3AL_ENST00000323434.8_Silent_p.A276A|RPH3AL_ENST00000576001.1_5'Flank	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	305					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTGCTGGAGCTGCGTCAGCAG	0.642																																					p.A305A		Atlas-SNP	.											.	RPH3AL	18	.	0			c.A915T						.						22.0	26.0	25.0					17																	63676		2203	4299	6502	SO:0001819	synonymous_variant	9501	exon10			TGGAGCTGCGTCA		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.915A>T	chr17.hg19:g.63676T>A		83.0	0.0		54.0	12.0	NM_006987	D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	hg19	CCDS10994.1																																																																																			.	.		0.642	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987	
POLR2A	5430	hgsc.bcm.edu	37	17	7406937	7406937	+	Missense_Mutation	SNP	G	G	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr17:7406937G>T	ENST00000322644.6	+	19	3466	c.3067G>T	c.(3067-3069)Gtg>Ttg	p.V1023L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1023					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCTGGTGATTGTGAATGGGGA	0.552																																					p.V1023L		Atlas-SNP	.											.	POLR2A	157	.	0			c.G3067T						.						81.0	72.0	75.0					17																	7406937		2203	4300	6503	SO:0001583	missense	5430	exon19			GTGATTGTGAATG			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3067G>T	chr17.hg19:g.7406937G>T	ENSP00000314949:p.Val1023Leu	155.0	0.0		93.0	4.0	NM_000937	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	hg19	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113410	0.94339	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68331	-0.32	5.91	5.91	0.95273	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.83335	0.5232	M	0.87617	2.895	0.80722	D	1	P	0.39551	0.678	P	0.54706	0.759	D	0.84392	0.0555	10	0.87932	D	0	-12.7046	19.07	0.93130	0.0:0.0:1.0:0.0	.	1023	P24928	RPB1_HUMAN	L	979;1023	ENSP00000314949:V1023L	ENSP00000314949:V1023L	V	+	1	0	SLC35G6	7347661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.740000	0.91579	2.793000	0.96121	0.655000	0.94253	GTG	.	.		0.552	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
ZNF18	7566	hgsc.bcm.edu	37	17	11882000	11882000	+	Silent	SNP	G	G	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr17:11882000G>T	ENST00000322748.3	-	9	1528	c.924C>A	c.(922-924)ctC>ctA	p.L308L	RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Silent_p.L308L|ZNF18_ENST00000454073.3_Silent_p.L307L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	308					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AAGCATGCAGGAGCTCCTGGT	0.463																																					p.L308L		Atlas-SNP	.											.	ZNF18	42	.	0			c.C924A						.						117.0	124.0	122.0					17																	11882000		2201	4287	6488	SO:0001819	synonymous_variant	7566	exon9			ATGCAGGAGCTCC	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.924C>A	chr17.hg19:g.11882000G>T		43.0	0.0		54.0	16.0	NM_144680	Q5QHQ3|Q8IYC4|Q8NAH6	Silent	SNP	ENST00000322748.3	hg19	CCDS32568.1																																																																																			.	.		0.463	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596	
SYNRG	11276	hgsc.bcm.edu	37	17	35937549	35937549	+	Missense_Mutation	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr17:35937549C>T	ENST00000339208.6	-	7	892	c.752G>A	c.(751-753)gGa>gAa	p.G251E	SYNRG_ENST00000346661.4_Missense_Mutation_p.G251E|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000394378.2_Intron|SYNRG_ENST00000345615.4_Intron|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000588194.1_Intron|SYNRG_ENST00000585472.1_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	251					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACTTACACATCCATCTACAGC	0.438																																					p.G251E		Atlas-SNP	.											.	SYNRG	101	.	0			c.G752A						.						265.0	261.0	262.0					17																	35937549		2203	4300	6503	SO:0001583	missense	11276	exon7			ACACATCCATCTA	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.752G>A	chr17.hg19:g.35937549C>T	ENSP00000343610:p.Gly251Glu	183.0	0.0		166.0	61.0	NM_007247	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	hg19	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181501	0.57800	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000394379	T;T	0.55588	1.64;0.51	5.46	5.46	0.80206	.	0.234208	0.37530	N	0.002055	T	0.42698	0.1214	L	0.45581	1.43	0.45762	D	0.998652	P;B;B	0.36683	0.565;0.197;0.197	B;B;B	0.33690	0.168;0.119;0.119	T	0.41610	-0.9499	10	0.02654	T	1	-12.4824	17.4774	0.87662	0.0:1.0:0.0:0.0	.	352;251;251	A8MYE0;Q9UMZ2-5;Q9UMZ2	.;.;SYNRG_HUMAN	E	251;251;352	ENSP00000005279:G251E;ENSP00000315722:G251E	ENSP00000315722:G251E	G	-	2	0	SYNRG	33011662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.506000	0.35747	2.543000	0.85770	0.591000	0.81541	GGA	.	.		0.438	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	
ACSF2	80221	hgsc.bcm.edu	37	17	48539553	48539553	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr17:48539553C>T	ENST00000300441.4	+	5	620	c.516C>T	c.(514-516)tgC>tgT	p.C172C	ACSF2_ENST00000502667.1_Silent_p.C159C|ACSF2_ENST00000541920.1_Silent_p.C12C|ACSF2_ENST00000427954.2_Silent_p.C197C|ACSF2_ENST00000504392.1_Silent_p.C129C	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	172					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGTGGGCTGCAAGGCCCTTG	0.577																																					p.C172C		Atlas-SNP	.											.	ACSF2	46	.	0			c.C516T						.						60.0	59.0	59.0					17																	48539553		2203	4300	6503	SO:0001819	synonymous_variant	80221	exon5			GGGCTGCAAGGCC	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.516C>T	chr17.hg19:g.48539553C>T		63.0	0.0		51.0	26.0	NM_025149	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	ENST00000300441.4	hg19	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012272	0.93346	.	.	ENSG00000167107	ENST00000506582	.	.	.	5.59	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9535	10.0108	0.41986	0.0:0.7889:0.0:0.2111	.	.	.	.	X	145	.	ENSP00000424842:Q145X	Q	+	1	0	ACSF2	45894552	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.829000	0.27449	1.362000	0.46000	-0.126000	0.14955	CAA	.	.		0.577	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149	
LAMA1	284217	hgsc.bcm.edu	37	18	6993751	6993751	+	Splice_Site	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr18:6993751G>A	ENST00000389658.3	-	35	4990	c.4897C>T	c.(4897-4899)Ctc>Ttc	p.L1633F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1633	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCCTAGTGAGCTGGTGGAAA	0.403																																					p.L1633F		Atlas-SNP	.											.	LAMA1	458	.	0			c.C4897T						.						133.0	124.0	127.0					18																	6993751		2203	4300	6503	SO:0001630	splice_region_variant	284217	exon35			TAGTGAGCTGGTG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4897-1C>T	chr18.hg19:g.6993751G>A		72.0	0.0		52.0	23.0	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	hg19	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084710	0.36758	.	.	ENSG00000101680	ENST00000389658	T	0.10860	2.83	5.76	5.76	0.90799	Laminin I (1);	0.369922	0.26418	N	0.024485	T	0.17831	0.0428	M	0.62723	1.935	0.33205	D	0.552676	D	0.57899	0.981	P	0.52159	0.691	T	0.11324	-1.0592	10	0.28530	T	0.3	.	8.1009	0.30857	0.0793:0.0:0.7619:0.1588	.	1633	P25391	LAMA1_HUMAN	F	1633	ENSP00000374309:L1633F	ENSP00000374309:L1633F	L	-	1	0	LAMA1	6983751	0.999000	0.42202	0.998000	0.56505	0.053000	0.15095	1.590000	0.36654	2.882000	0.98803	0.655000	0.94253	CTC	.	.		0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Missense_Mutation
LAMA3	3909	hgsc.bcm.edu	37	18	21437935	21437935	+	Missense_Mutation	SNP	G	G	C			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr18:21437935G>C	ENST00000313654.9	+	33	4505	c.4264G>C	c.(4264-4266)Ggg>Cgg	p.G1422R	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1422R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1422	Domain III B.|Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCCAGGGACCGGGGCTTGCCT	0.527																																					p.G1422R		Atlas-SNP	.											LAMA3,NS,carcinoma,0,3	LAMA3	397	.	0			c.G4264C						.						97.0	97.0	97.0					18																	21437935		2033	4180	6213	SO:0001583	missense	3909	exon33			GGGACCGGGGCTT	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4264G>C	chr18.hg19:g.21437935G>C	ENSP00000324532:p.Gly1422Arg	82.0	0.0		82.0	41.0	NM_001127717	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562706	0.86335	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.75821	-0.97;-0.97	5.43	5.43	0.79202	EGF-like, laminin (3);	.	.	.	.	D	0.90906	0.7142	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.93103	0.6510	9	0.87932	D	0	.	19.6064	0.95583	0.0:0.0:1.0:0.0	.	1422;1422	Q6VU67;Q16787	.;LAMA3_HUMAN	R	1422;1422;1420	ENSP00000324532:G1422R;ENSP00000382432:G1422R	ENSP00000324532:G1422R	G	+	1	0	LAMA3	19691933	1.000000	0.71417	0.529000	0.27951	0.839000	0.47603	7.352000	0.79404	2.710000	0.92621	0.561000	0.74099	GGG	.	.		0.527	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
MEX3D	399664	hgsc.bcm.edu	37	19	1556821	1556821	+	Missense_Mutation	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr19:1556821C>T	ENST00000402693.4	-	2	696	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	MEX3D_ENST00000388824.6_Missense_Mutation_p.V233M|AC027307.1_ENST00000410788.1_RNA|AC027307.2_ENST00000581992.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	233	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATCTCCACGTCCTCCTTC	0.672																																					p.V233M		Atlas-SNP	.											MEX3D,NS,carcinoma,0,1	MEX3D	11	.	0			c.G697A						.						32.0	33.0	33.0					19																	1556821		2201	4287	6488	SO:0001583	missense	399664	exon2			TCTCCACGTCCTC	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.697G>A	chr19.hg19:g.1556821C>T	ENSP00000384398:p.Val233Met	197.0	0.0		131.0	45.0	NM_203304	A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	ENST00000402693.4	hg19	CCDS32865.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506728	0.85282	.	.	ENSG00000181588	ENST00000355663;ENST00000402693;ENST00000388824	T;T	0.45668	0.89;0.89	4.63	4.63	0.57726	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.66137	0.2759	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72181	-0.4368	10	0.87932	D	0	-25.3952	16.4484	0.83959	0.0:1.0:0.0:0.0	.	233	Q86XN8	MEX3D_HUMAN	M	123;233;233	ENSP00000384398:V233M;ENSP00000373476:V233M	ENSP00000347885:V123M	V	-	1	0	MEX3D	1507821	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	5.608000	0.67654	2.125000	0.65367	0.491000	0.48974	GTG	.	.		0.672	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304	
THOP1	7064	hgsc.bcm.edu	37	19	2811648	2811648	+	Missense_Mutation	SNP	G	G	C			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr19:2811648G>C	ENST00000307741.6	+	12	2027	c.1824G>C	c.(1822-1824)caG>caC	p.Q608H	THOP1_ENST00000395212.4_Missense_Mutation_p.Q119H|THOP1_ENST00000586677.1_Missense_Mutation_p.Q487H	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	608					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGACGCCCAGTACTACGGGT	0.617																																					p.Q608H		Atlas-SNP	.											.	THOP1	49	.	0			c.G1824C						.						120.0	82.0	95.0					19																	2811648		2202	4300	6502	SO:0001583	missense	7064	exon12			CGCCCAGTACTAC		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1824G>C	chr19.hg19:g.2811648G>C	ENSP00000304467:p.Gln608His	134.0	0.0		89.0	28.0	NM_003249	B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	hg19	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783844	0.70222	.	.	ENSG00000172009	ENST00000307741;ENST00000395212	T;T	0.11930	3.15;2.73	4.81	3.77	0.43336	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.76170	2.325	0.80722	D	1	D;P;D	0.89917	1.0;0.936;1.0	D;P;D	0.77557	0.99;0.601;0.99	T	0.11792	-1.0573	10	0.72032	D	0.01	-56.0146	11.8645	0.52486	0.0874:0.0:0.9125:0.0	.	487;119;608	B4DU96;B3KSE2;P52888	.;.;THOP1_HUMAN	H	608;119	ENSP00000304467:Q608H;ENSP00000378638:Q119H	ENSP00000304467:Q608H	Q	+	3	2	THOP1	2762648	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	6.347000	0.73004	1.006000	0.39211	0.561000	0.74099	CAG	.	.		0.617	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2		
ANKRD24	170961	hgsc.bcm.edu	37	19	4216727	4216727	+	Missense_Mutation	SNP	G	G	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr19:4216727G>T	ENST00000600132.1	+	18	1846	c.1570G>T	c.(1570-1572)Gca>Tca	p.A524S	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A614S|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A524S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	524										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGAAGAGGGGGCAGCCTGTGG	0.617																																					p.A524S		Atlas-SNP	.											.	ANKRD24	180	.	0			c.G1570T						.						18.0	22.0	20.0					19																	4216727		2024	4168	6192	SO:0001583	missense	170961	exon18			GAGGGGGCAGCCT	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1570G>T	chr19.hg19:g.4216727G>T	ENSP00000471252:p.Ala524Ser	131.0	0.0		84.0	30.0	NM_133475	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	hg19	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812659	0.50527	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.30714	1.52;1.52	3.78	-0.895	0.10560	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B;B	0.24426	0.063;0.103	B;B	0.25140	0.026;0.058	T	0.35748	-0.9776	9	0.15952	T	0.53	-0.1779	5.1988	0.15252	0.3618:0.1459:0.4923:0.0	.	524;614	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	S	524;614	ENSP00000321731:A524S;ENSP00000262970:A614S	ENSP00000262970:A614S	A	+	1	0	ANKRD24	4167727	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.119000	0.15626	-0.158000	0.11040	-0.642000	0.03964	GCA	.	.		0.617	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	
COL5A3	50509	hgsc.bcm.edu	37	19	10089907	10089907	+	Silent	SNP	T	T	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr19:10089907T>A	ENST00000264828.3	-	39	2860	c.2775A>T	c.(2773-2775)acA>acT	p.T925T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	925	Collagen-like 4.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCACTTCTCCTGTCTTTCCCT	0.607																																					p.T925T		Atlas-SNP	.											.	COL5A3	243	.	0			c.A2775T						.						43.0	47.0	46.0					19																	10089907		2203	4299	6502	SO:0001819	synonymous_variant	50509	exon39			TTCTCCTGTCTTT	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2775A>T	chr19.hg19:g.10089907T>A		205.0	0.0		179.0	23.0	NM_015719	Q9NZQ6	Silent	SNP	ENST00000264828.3	hg19	CCDS12222.1																																																																																			.	.		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
RASGRP4	115727	hgsc.bcm.edu	37	19	38912788	38912788	+	Missense_Mutation	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr19:38912788G>A	ENST00000587738.1	-	2	99	c.29C>T	c.(28-30)tCc>tTc	p.S10F	RASGRP4_ENST00000293062.9_Missense_Mutation_p.S10F|RASGRP4_ENST00000586305.1_Missense_Mutation_p.S10F|RASGRP4_ENST00000587753.1_Missense_Mutation_p.S10F|RASGRP4_ENST00000433821.2_Missense_Mutation_p.S10F|RASGRP4_ENST00000454404.2_Missense_Mutation_p.S10F|RASGRP4_ENST00000426920.2_Missense_Mutation_p.S10F			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	10					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCCTGGTGGGACTTCCTGTG	0.602																																					p.S10F		Atlas-SNP	.											.	RASGRP4	54	.	0			c.C29T						.						33.0	38.0	36.0					19																	38912788		1921	4128	6049	SO:0001583	missense	115727	exon2			TGGTGGGACTTCC	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.29C>T	chr19.hg19:g.38912788G>A	ENSP00000465772:p.Ser10Phe	41.0	0.0		43.0	13.0	NM_001146206	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	hg19	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995087	0.54041	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.07	2.93	0.34026	.	0.827806	0.10518	N	0.665357	T	0.49915	0.1585	L	0.56769	1.78	0.39437	D	0.967186	D;D;D;D;D;D;D	0.61697	0.984;0.984;0.99;0.976;0.99;0.986;0.976	P;P;P;P;P;P;P	0.57371	0.819;0.75;0.527;0.556;0.804;0.748;0.459	T	0.54748	-0.8247	10	0.72032	D	0.01	-23.1122	11.5958	0.50972	0.0:0.1823:0.8177:0.0	.	10;10;10;10;10;10;10	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	F	10	ENSP00000411878:S10F;ENSP00000293062:S10F;ENSP00000445966:S10F;ENSP00000416463:S10F	ENSP00000293062:S10F	S	-	2	0	RASGRP4	43604628	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.129000	0.50500	2.284000	0.76573	0.462000	0.41574	TCC	.	.		0.602	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604	
PNKP	11284	hgsc.bcm.edu	37	19	50368637	50368637	+	Missense_Mutation	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr19:50368637C>T	ENST00000322344.3	-	4	354	c.245G>A	c.(244-246)gGg>gAg	p.G82E	PNKP_ENST00000600910.1_Missense_Mutation_p.G82E|PNKP_ENST00000600573.1_Missense_Mutation_p.G82E|PNKP_ENST00000596014.1_Missense_Mutation_p.G82E|PNKP_ENST00000595792.1_5'Flank	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	82	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCCCTCCAACCCCGGCTTCAA	0.637								Other BER factors																													p.G82E		Atlas-SNP	.											.	PNKP	71	.	0			c.G245A						.						40.0	40.0	40.0					19																	50368637		2203	4300	6503	SO:0001583	missense	11284	exon4			TCCAACCCCGGCT	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.245G>A	chr19.hg19:g.50368637C>T	ENSP00000323511:p.Gly82Glu	177.0	0.0		120.0	13.0	NM_007254	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	hg19	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487137	0.63962	.	.	ENSG00000039650	ENST00000322344	T	0.24538	1.85	4.66	3.62	0.41486	SMAD/FHA domain (1);	0.191569	0.44285	N	0.000472	T	0.28863	0.0716	L	0.46157	1.445	0.20403	N	0.999904	D;D	0.55800	0.973;0.957	P;P	0.50934	0.654;0.472	T	0.06373	-1.0830	10	0.46703	T	0.11	-31.6012	8.3291	0.32175	0.0:0.8918:0.0:0.1082	.	43;82	Q9BUL2;Q96T60	.;PNKP_HUMAN	E	82	ENSP00000323511:G82E	ENSP00000323511:G82E	G	-	2	0	PNKP	55060449	0.308000	0.24509	0.026000	0.17262	0.903000	0.53119	2.428000	0.44749	1.172000	0.42781	0.561000	0.74099	GGG	.	.		0.637	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	
BRSK1	84446	hgsc.bcm.edu	37	19	55815053	55815053	+	Missense_Mutation	SNP	T	T	C			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr19:55815053T>C	ENST00000309383.1	+	12	1422	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A	BRSK1_ENST00000590333.1_Missense_Mutation_p.V398A|BRSK1_ENST00000326848.7_Missense_Mutation_p.V77A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	382					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CGGAAGCGTGTGGATTCTCCC	0.592																																					p.V382A		Atlas-SNP	.											.	BRSK1	192	.	0			c.T1145C						.						60.0	70.0	67.0					19																	55815053		2203	4300	6503	SO:0001583	missense	84446	exon12			AGCGTGTGGATTC	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1145T>C	chr19.hg19:g.55815053T>C	ENSP00000310649:p.Val382Ala	307.0	1.0		285.0	98.0	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	hg19	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.404568	0.83230	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73047	-0.71;1.36	3.96	3.96	0.45880	.	0.000000	0.64402	D	0.000008	T	0.82157	0.4976	M	0.80616	2.505	0.47153	D	0.99933	D;D	0.67145	0.993;0.996	P;D	0.65684	0.867;0.937	D	0.84200	0.0450	10	0.56958	D	0.05	.	12.2704	0.54702	0.0:0.0:0.0:1.0	.	382;398	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	A	382;77;77	ENSP00000310649:V382A;ENSP00000320853:V77A	ENSP00000310649:V382A	V	+	2	0	BRSK1	60506865	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	7.479000	0.81095	1.813000	0.52934	0.459000	0.35465	GTG	.	.		0.592	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
PTGIS	5740	hgsc.bcm.edu	37	20	48130860	48130860	+	Missense_Mutation	SNP	G	G	A			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr20:48130860G>A	ENST00000244043.4	-	7	957	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	310					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	AGCTCTCCGCGGACAGCAGCC	0.587																																					p.R310C		Atlas-SNP	.											.	PTGIS	60	.	0			c.C928T						.						56.0	52.0	53.0					20																	48130860		2203	4300	6503	SO:0001583	missense	5740	exon7			CTCCGCGGACAGC		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.928C>T	chr20.hg19:g.48130860G>A	ENSP00000244043:p.Arg310Cys	73.0	0.0		70.0	23.0	NM_000961	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	hg19	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202544	0.58234	.	.	ENSG00000124212	ENST00000244043	T	0.01705	4.68	4.1	3.15	0.36227	.	0.577942	0.15393	N	0.264738	T	0.02455	0.0075	M	0.72894	2.215	0.27370	N	0.955721	P	0.41080	0.737	B	0.30105	0.111	T	0.37731	-0.9693	10	0.48119	T	0.1	-2.1553	9.6497	0.39890	0.105:0.0:0.895:0.0	.	310	Q16647	PTGIS_HUMAN	C	310	ENSP00000244043:R310C	ENSP00000244043:R310C	R	-	1	0	PTGIS	47564267	0.718000	0.27976	0.185000	0.23176	0.212000	0.24457	1.708000	0.37899	0.843000	0.35070	0.561000	0.74099	CGC	.	.		0.587	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		
ZNF512B	57473	hgsc.bcm.edu	37	20	62612631	62612631	+	Intron	SNP	G	G	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr20:62612631G>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.M11I|SAMD10_ENST00000498830.1_5'Flank|SAMD10_ENST00000369886.3_5'Flank			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCCTAGGGATGCCCGCGCCCC	0.677																																					p.M11I		Atlas-SNP	.											.	PRPF6	88	.	0			c.G33T						.						23.0	22.0	22.0					20																	62612631		2191	4290	6481	SO:0001627	intron_variant	24148	exon1			AGGGATGCCCGCG	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-13323C>A	chr20.hg19:g.62612631G>T		195.0	0.0		145.0	48.0	NM_012469	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	hg19	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637670	0.67130	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.77750	-1.1;-1.12	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	L	0.43152	1.355	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.002	T	0.69022	-0.5255	10	0.41790	T	0.15	-31.8364	16.6876	0.85312	0.0:0.0:1.0:0.0	.	11;11	O94906-2;O94906	.;PRP6_HUMAN	I	11	ENSP00000266079:M11I;ENSP00000446216:M11I	ENSP00000266079:M11I	M	+	3	0	PRPF6	62083075	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.953000	0.87836	2.017000	0.59298	0.491000	0.48974	ATG	.	.		0.677	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
APOBEC3G	60489	hgsc.bcm.edu	37	22	39476966	39476966	+	Missense_Mutation	SNP	A	A	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr22:39476966A>T	ENST00000407997.3	+	3	557	c.200A>T	c.(199-201)gAg>gTg	p.E67V	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.E67V	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	67	CMP/dCMP deaminase zinc-binding 1.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TACCACCCAGAGATGAGATTC	0.572																																					p.E67V		Atlas-SNP	.											.	APOBEC3G	69	.	0			c.A200T						.						55.0	51.0	52.0					22																	39476966		2203	4300	6503	SO:0001583	missense	60489	exon3			ACCCAGAGATGAG	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.200A>T	chr22.hg19:g.39476966A>T	ENSP00000385057:p.Glu67Val	97.0	0.0		78.0	29.0	NM_021822	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	hg19	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	12.71	2.018764	0.35606	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	D;D	0.94897	-3.55;-3.55	2.34	1.29	0.21616	APOBEC-like, N-terminal (1);	.	.	.	.	D	0.96806	0.8957	H	0.95004	3.61	0.09310	N	1	D	0.55605	0.972	P	0.59825	0.864	D	0.90297	0.4327	9	0.87932	D	0	.	4.0427	0.09758	0.8182:0.0:0.1818:0.0	.	67	Q9HC16	ABC3G_HUMAN	V	67	ENSP00000413376:E67V;ENSP00000385057:E67V	ENSP00000385057:E67V	E	+	2	0	APOBEC3G	37806912	0.557000	0.26546	0.005000	0.12908	0.008000	0.06430	2.245000	0.43133	0.329000	0.23460	0.374000	0.22700	GAG	.	.		0.572	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	
CYP2D6	1565	hgsc.bcm.edu	37	22	42525162	42525162	+	Silent	SNP	G	G	C	rs369043970		TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr22:42525162G>C	ENST00000360608.5	-	3	492	c.378C>G	c.(376-378)ccC>ccG	p.P126P	NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.P126P|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	126					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CGCGCCACGCGGGCCCATAGC	0.682																																					p.P126P		Atlas-SNP	.											.	CYP2D6	104	.	0			c.C378G						.						20.0	24.0	23.0					22																	42525162		2021	4167	6188	SO:0001819	synonymous_variant	1565	exon3			CCACGCGGGCCCA	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.378C>G	chr22.hg19:g.42525162G>C		58.0	0.0		73.0	21.0	NM_000106	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	hg19	CCDS46721.1																																																																																			.	.		0.682	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
PPP2R3B	28227	hgsc.bcm.edu	37	X	306923	306923	+	Missense_Mutation	SNP	T	T	C			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chrX:306923T>C	ENST00000390665.3	-	6	883	c.865A>G	c.(865-867)Agc>Ggc	p.S289G		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	289					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGAAGGAGCTCCTCCGCAGC	0.697																																					p.S289G		Atlas-SNP	.											.	PPP2R3B	43	.	0			c.A865G						.						16.0	23.0	20.0					X																	306923		1945	4111	6056	SO:0001583	missense	28227	exon6			AGGAGCTCCTCCG	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.865A>G	chrX.hg19:g.306923T>C	ENSP00000375080:p.Ser289Gly	59.0	0.0		46.0	10.0	NM_013239	Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	hg19	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	T	7.489	0.650265	0.14516	.	.	ENSG00000167393	ENST00000390665	T	0.50277	0.75	1.18	1.18	0.20946	.	0.325715	0.30260	U	0.010030	T	0.55768	0.1941	M	0.68317	2.08	0.09310	N	0.999997	D;P	0.54964	0.969;0.915	P;P	0.57846	0.828;0.616	T	0.47169	-0.9138	10	0.87932	D	0	.	7.6049	0.28097	0.0:0.0:0.0:1.0	.	128;289	B4DE79;Q9Y5P8	.;P2R3B_HUMAN	G	289	ENSP00000375080:S289G	ENSP00000375080:S289G	S	-	1	0	PPP2R3B	226923	1.000000	0.71417	0.981000	0.43875	0.000000	0.00434	4.098000	0.57748	0.405000	0.25532	0.000000	0.15137	AGC	.	.		0.697	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239	
AR	367	hgsc.bcm.edu	37	X	66766365	66766365	+	Silent	SNP	C	C	T			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chrX:66766365C>T	ENST00000374690.3	+	1	1901	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.G459G|AR_ENST00000504326.1_Silent_p.G459G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	457	Modulating.|Poly-Gly.				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)	gtggcggcggcggcggcggcg	0.756									Androgen Insensitivity Syndrome																												p.G459G		Atlas-SNP	.											.	AR	249	.	0			c.C1377T						.																																			SO:0001819	synonymous_variant	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	CGGCGGCGGCGGC	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.1377C>T	chrX.hg19:g.66766365C>T		193.0	0.0		472.0	86.0	NM_000044	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	hg19	CCDS14387.1																																																																																			.	.		0.756	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
CBL	867	hgsc.bcm.edu	37	11	119168164	119168165	+	Frame_Shift_Ins	INS	-	-	CATCTAT	rs587778157		TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr11:119168164_119168165insCATCTAT	ENST00000264033.4	+	14	2600_2601	c.2224_2225insCATCTAT	c.(2224-2226)ccafs	p.-744fs		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase						cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GTCCCAGGCGCCATCTATCACC	0.406			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																												p.P742fs		Atlas-INDEL	.		"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	CBL	408	.	0			c.2224_2225insCATCTAT						.																																			SO:0001589	frameshift_variant	867	exon14	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	.	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2225_2231dupCATCTAT	chr11.hg19:g.119168165_119168171dupCATCTAT	ENSP00000264033:p.Ile744fs	122.0	0.0		93.0	14.0	NM_005188	A3KMP8	Frame_Shift_Ins	INS	ENST00000264033.4	hg19	CCDS8418.1																																																																																			.	.		0.406	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
CHUK	1147	hgsc.bcm.edu	37	10	101980381	101980381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr10:101980381delT	ENST00000370397.7	-	5	524	c.438delA	c.(436-438)aaafs	p.K146fs		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGTTTTCAGGTTTTAGATCTC	0.318																																					p.P147fs	Ovarian(159;52 1904 10536 35305 37148)	Atlas-INDEL	.											.	CHUK	71	.	0			c.439delC						.						105.0	103.0	103.0					10																	101980381		2203	4299	6502	SO:0001589	frameshift_variant	1147	exon5			.	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.438delA	chr10.hg19:g.101980381delT	ENSP00000359424:p.Lys146fs	99.0	0.0		101.0	45.0	NM_001278	O14666|Q13132|Q5W0I4|Q92467	Frame_Shift_Del	DEL	ENST00000370397.7	hg19	CCDS7488.1																																																																																			.	.		0.318	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
ALB	213	hgsc.bcm.edu	37	4	74274521	74274524	+	Splice_Site	DEL	AAGT	AAGT	-	rs17853494		TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr4:74274521_74274524delAAGT	ENST00000295897.4	+	4	570_571	c.481_482delAAGT	c.(481-483)aag>g	p.K161fs	ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Splice_Site_p.K161fs|ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTTTGAAAAAGTAAGTAATCAG	0.348																																					p.160_161del		Atlas-INDEL	.											.	ALB	132	.	0			c.480_482del						.																																			SO:0001630	splice_region_variant	213	exon4			.	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.482+1AAGT>-	chr4.hg19:g.74274525_74274528delAAGT		115.0	0.0		102.0	30.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	In_Frame_Del	DEL	ENST00000295897.4	hg19	CCDS3555.1																																																																																			.	.		0.348	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477	Frame_Shift_Del
ACCSL	390110	hgsc.bcm.edu	37	11	44074236	44074242	+	Frame_Shift_Del	DEL	TCTATGG	TCTATGG	-			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	TCTATGG	TCTATGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr11:44074236_44074242delTCTATGG	ENST00000378832.1	+	6	853_859	c.797_803delTCTATGG	c.(796-804)ttctatggtfs	p.FYG266fs		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	266					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CCTGCTCCCTTCTATGGTGGCTTTGCC	0.551																																					p.266_268del		Atlas-INDEL	.											.	ACCSL	57	.	0			c.796_802del						.																																			SO:0001589	frameshift_variant	390110	exon6			.		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.797_803delTCTATGG	chr11.hg19:g.44074236_44074242delTCTATGG	ENSP00000368109:p.Phe266fs	81.0	0.0		67.0	14.0	NM_001031854		Frame_Shift_Del	DEL	ENST00000378832.1	hg19	CCDS41636.1																																																																																			.	.		0.551	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
TCERG1	10915	hgsc.bcm.edu	37	5	145838662	145838663	+	In_Frame_Ins	INS	-	-	GCCCAG			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr5:145838662_145838663insGCCCAG	ENST00000296702.5	+	4	692_693	c.654_655insGCCCAG	c.(655-657)gcc>GCCCAGgcc	p.219_219A>AQA	TCERG1_ENST00000394421.2_In_Frame_Ins_p.219_219A>AQA	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	219	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaggcccaggccca	0.728																																					p.Q218delinsQAQ		Atlas-INDEL	.											.	TCERG1	148	.	0			c.654_655insGCCCAG						.																																			SO:0001652	inframe_insertion	10915	exon4			.	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.655_660dupGCCCAG	chr5.hg19:g.145838663_145838668dupGCCCAG	ENSP00000296702:p.GlnAla241dup	156.0	0.0		147.0	18.0	NM_006706	Q2NKN2|Q59EA1	In_Frame_Ins	INS	ENST00000296702.5	hg19	CCDS4282.1																																																																																			.	.		0.728	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
PCDHB3	56132	hgsc.bcm.edu	37	5	140480417	140480418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZS-A9CG-01A-11D-A36X-10	TCGA-ZS-A9CG-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d44d787d-1a49-474d-9dca-07f1930ff316	823b073f-c65b-4652-8dfc-2957727cbb77	g.chr5:140480417_140480418insG	ENST00000231130.2	+	1	184_185	c.184_185insG	c.(184-186)aggfs	p.R62fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGCCGCGAGGGGGGCCCAA	0.5																																					p.R62fs		Atlas-INDEL	.											.	PCDHB3	208	.	0			c.184_185insG						.																																			SO:0001589	frameshift_variant	56132	exon1			.	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.190dupG	chr5.hg19:g.140480423_140480423dupG	ENSP00000231130:p.Arg62fs	250.0	0.0		257.0	55.0	NM_018937	B2R8P2	Frame_Shift_Ins	INS	ENST00000231130.2	hg19	CCDS4245.1																																																																																			.	.		0.500	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
