#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
PLEKHG5	57449	hgsc.bcm.edu	37	1	6529206	6529206	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:6529206C>T	ENST00000400915.3	-	20	2379	c.2313G>A	c.(2311-2313)gaG>gaA	p.E771E	PLEKHG5_ENST00000377740.3_Silent_p.E792E|PLEKHG5_ENST00000377732.1_Silent_p.E752E|PLEKHG5_ENST00000377725.1_Silent_p.E715E|PLEKHG5_ENST00000377748.1_Silent_p.E792E|PLEKHG5_ENST00000377728.3_Silent_p.E715E|PLEKHG5_ENST00000377737.2_Silent_p.E715E|PLEKHG5_ENST00000544978.1_Silent_p.E715E|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000535355.1_Silent_p.E784E|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000400913.1_Silent_p.E715E|PLEKHG5_ENST00000537245.1_Silent_p.E794E|PLEKHG5_ENST00000340850.5_Silent_p.E715E	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	771	Glu-rich.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		cctcctcctcctcttcctcct	0.637																																					p.E794E		Atlas-SNP	.											PLEKHG5_ENST00000377748,colon,carcinoma,0,1	PLEKHG5	66	.	0			c.G2382A						.						75.0	76.0	76.0					1																	6529206		2203	4300	6503	SO:0001819	synonymous_variant	57449	exon20			CTCCTCCTCTTCC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2313G>A	chr1.hg19:g.6529206C>T		78.0	0.0		52.0	10.0	NM_001265592	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	hg19	CCDS41241.1																																																																																			.	.		0.637	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	
UTS2	10911	hgsc.bcm.edu	37	1	7912998	7912998	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:7912998A>G	ENST00000361696.5	-	1	97	c.66T>C	c.(64-66)ccT>ccC	p.P22P	UTS2_ENST00000054668.5_Intron|UTS2_ENST00000377516.2_Silent_p.P22P	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	22					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCAAGGAGAGGAAGAGATA	0.393																																					p.P22P		Atlas-SNP	.											UTS2_ENST00000361696,right_lower_lobe,carcinoma,0,1	UTS2	18	.	0			c.T66C						.						84.0	91.0	89.0					1																	7912998		2203	4300	6503	SO:0001819	synonymous_variant	10911	exon1			AAGGAGAGGAAGA	AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"""Endogenous ligands"""	12636	protein-coding gene	gene with protein product	"""prepro U-II"""	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.66T>C	chr1.hg19:g.7912998A>G		192.0	0.0		120.0	5.0	NM_006786	Q5H8X7|Q6UXF6|Q9UKP7	Silent	SNP	ENST00000361696.5	hg19	CCDS91.1																																																																																			.	.		0.393	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1	NM_006786	
NPPB	4879	hgsc.bcm.edu	37	1	11917725	11917725	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:11917725A>G	ENST00000376468.3	-	3	489	c.392T>C	c.(391-393)cTg>cCg	p.L131P		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	131					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	ATGCCGCCTCAGCACTGTCAG	0.552																																					p.L131P		Atlas-SNP	.											.	NPPB	24	.	0			c.T392C						.						126.0	116.0	120.0					1																	11917725		2203	4300	6503	SO:0001583	missense	4879	exon3			CGCCTCAGCACTG	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.392T>C	chr1.hg19:g.11917725A>G	ENSP00000365651:p.Leu131Pro	129.0	0.0		95.0	4.0	NM_002521	B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	hg19	CCDS140.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500439	0.26861	.	.	ENSG00000120937	ENST00000376468	T	0.27402	1.67	4.65	3.5	0.40072	.	.	.	.	.	T	0.36082	0.0954	L	0.28740	0.885	0.19775	N	0.999953	D	0.89917	1.0	D	0.65987	0.94	T	0.09207	-1.0685	9	0.30078	T	0.28	.	7.2828	0.26320	0.8935:0.0:0.1065:0.0	.	131	P16860	ANFB_HUMAN	P	131	ENSP00000365651:L131P	ENSP00000365651:L131P	L	-	2	0	NPPB	11840312	0.002000	0.14202	0.047000	0.18901	0.011000	0.07611	1.577000	0.36515	1.873000	0.54277	0.459000	0.35465	CTG	.	.		0.552	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521	
PLEKHM2	23207	hgsc.bcm.edu	37	1	16054156	16054156	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:16054156A>G	ENST00000375799.3	+	9	1816	c.1589A>G	c.(1588-1590)cAg>cGg	p.Q530R	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.Q510R|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	530					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGAGGCCCAGCTGTCCCTG	0.657																																					p.Q530R		Atlas-SNP	.											.	PLEKHM2	94	.	0			c.A1589G						.						18.0	22.0	21.0					1																	16054156		1981	4152	6133	SO:0001583	missense	23207	exon9			AGGCCCAGCTGTC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1589A>G	chr1.hg19:g.16054156A>G	ENSP00000364956:p.Gln530Arg	175.0	0.0		99.0	4.0	NM_015164	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	hg19	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	A	6.388	0.439684	0.12104	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.46063	0.89;0.88	5.43	-1.83	0.07833	.	1.563280	0.03544	N	0.224390	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13150	-1.0520	10	0.13470	T	0.59	-1.2905	5.9664	0.19328	0.575:0.2299:0.1951:0.0	.	530	Q8IWE5	PKHM2_HUMAN	R	530;510	ENSP00000364956:Q530R;ENSP00000364950:Q510R	ENSP00000364950:Q510R	Q	+	2	0	PLEKHM2	15926743	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.153000	0.10144	-0.268000	0.09312	0.459000	0.35465	CAG	.	.		0.657	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164	
USP48	84196	hgsc.bcm.edu	37	1	22083078	22083078	+	Missense_Mutation	SNP	T	T	C	rs4253886		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:22083078T>C	ENST00000308271.9	-	3	1021	c.373A>G	c.(373-375)Agt>Ggt	p.S125G	USP48_ENST00000421625.2_Missense_Mutation_p.S125G|USP48_ENST00000529637.1_Missense_Mutation_p.S125G|USP48_ENST00000400301.1_Missense_Mutation_p.S125G	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	125	USP.		S -> C (in dbSNP:rs4253886).		ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATGTAGTCACTACAAGTGCTT	0.443																																					p.S125G		Atlas-SNP	.											.	USP48	91	.	0			c.A373G						.						144.0	146.0	145.0					1																	22083078		2203	4300	6503	SO:0001583	missense	84196	exon3			AGTCACTACAAGT	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.373A>G	chr1.hg19:g.22083078T>C	ENSP00000309262:p.Ser125Gly	172.0	0.0		92.0	4.0	NM_001032730	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	hg19	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	T	6.055	0.378418	0.11466	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.56	2.91	0.33838	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.289149	0.43747	N	0.000538	T	0.20495	0.0493	L	0.38953	1.18	0.29154	N	0.87817	B;B;B;B;B;B	0.27068	0.0;0.0;0.089;0.167;0.0;0.0	B;B;B;B;B;B	0.26969	0.0;0.0;0.075;0.053;0.0;0.0	T	0.10428	-1.0630	10	0.33141	T	0.24	.	6.2343	0.20754	0.0:0.1648:0.1409:0.6943	.	125;125;125;125;125;125	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	G	125	ENSP00000383157:S125G;ENSP00000309262:S125G;ENSP00000431949:S125G;ENSP00000406256:S125G	ENSP00000309262:S125G	S	-	1	0	USP48	21955665	0.729000	0.28090	0.913000	0.36048	0.026000	0.11368	1.070000	0.30653	0.944000	0.37579	0.459000	0.35465	AGT	.	T|1.000;|0.000		0.443	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
HSPG2	3339	hgsc.bcm.edu	37	1	22202397	22202397	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:22202397T>C	ENST00000374695.3	-	24	3221	c.3142A>G	c.(3142-3144)Agc>Ggc	p.S1048G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1048	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)	TGGCCGGGGCTGGGCTCCTGG	0.662																																					p.S1048G		Atlas-SNP	.											.	HSPG2	311	.	0			c.A3142G						.						51.0	54.0	53.0					1																	22202397		2203	4299	6502	SO:0001583	missense	3339	exon24			CGGGGCTGGGCTC	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.3142A>G	chr1.hg19:g.22202397T>C	ENSP00000363827:p.Ser1048Gly	116.0	0.0		97.0	4.0	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	hg19	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	6.614	0.481652	0.12581	.	.	ENSG00000142798	ENST00000374695	T	0.36157	1.27	5.51	-3.5	0.04710	Laminin B type IV (2);Laminin B, subgroup (1);	1.067630	0.07365	N	0.884655	T	0.24509	0.0594	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.31668	-0.9935	10	0.21014	T	0.42	.	8.2737	0.31860	0.0:0.5058:0.1272:0.367	.	1048	P98160	PGBM_HUMAN	G	1048	ENSP00000363827:S1048G	ENSP00000363827:S1048G	S	-	1	0	HSPG2	22074984	0.000000	0.05858	0.000000	0.03702	0.573000	0.36030	-1.470000	0.02346	-0.521000	0.06426	-1.145000	0.01858	AGC	.	.		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
ARID1A	8289	hgsc.bcm.edu	37	1	27057832	27057832	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:27057832T>C	ENST00000324856.7	+	3	1911	c.1540T>C	c.(1540-1542)Tct>Cct	p.S514P	ARID1A_ENST00000457599.2_Missense_Mutation_p.S514P|ARID1A_ENST00000374152.2_Missense_Mutation_p.S131P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	514					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTCCAGTCCTCTCAGCCTCC	0.632			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.S514P		Atlas-SNP	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	0			c.T1540C						.						311.0	285.0	294.0					1																	27057832		2203	4300	6503	SO:0001583	missense	8289	exon3			CAGTCCTCTCAGC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1540T>C	chr1.hg19:g.27057832T>C	ENSP00000320485:p.Ser514Pro	314.0	0.0		194.0	9.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	T	8.405	0.842792	0.16963	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02631	4.42;4.22;4.24	5.33	2.85	0.33270	.	0.488806	0.22500	N	0.059256	T	0.02533	0.0077	N	0.19112	0.55	0.80722	D	1	P;P;P	0.40875	0.612;0.731;0.612	B;B;B	0.41894	0.203;0.369;0.203	T	0.63825	-0.6549	10	0.36615	T	0.2	-6.0452	8.4261	0.32729	0.1301:0.0:0.1362:0.7337	.	514;514;168	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	P	514;514;131	ENSP00000320485:S514P;ENSP00000387636:S514P;ENSP00000363267:S131P	ENSP00000320485:S514P	S	+	1	0	ARID1A	26930419	0.072000	0.21174	0.993000	0.49108	0.392000	0.30506	0.547000	0.23299	1.007000	0.39238	0.533000	0.62120	TCT	.	.		0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
SERINC2	347735	hgsc.bcm.edu	37	1	31905905	31905905	+	Missense_Mutation	SNP	G	G	C	rs375057852		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:31905905G>C	ENST00000373709.3	+	9	1255	c.1105G>C	c.(1105-1107)Gtg>Ctg	p.V369L	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.V373L|SERINC2_ENST00000373710.1_Missense_Mutation_p.V378L|SERINC2_ENST00000536859.1_Missense_Mutation_p.V373L	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	369					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GCAGCAGCAGGTGGCAGCCTG	0.632																																					p.V378L		Atlas-SNP	.											.	SERINC2	44	.	0			c.G1132C						.						67.0	56.0	60.0					1																	31905905		2202	4300	6502	SO:0001583	missense	347735	exon10			CAGCAGGTGGCAG	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1105G>C	chr1.hg19:g.31905905G>C	ENSP00000362813:p.Val369Leu	138.0	0.0		117.0	8.0	NM_001199038	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	hg19	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	g	1.843	-0.467044	0.04476	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.09	-7.44	0.01379	.	1.213580	0.05952	N	0.638996	T	0.09024	0.0223	N	0.25647	0.755	0.09310	N	1	B;B;B	0.22414	0.002;0.002;0.069	B;B;B	0.27500	0.026;0.044;0.08	T	0.38693	-0.9649	10	0.33940	T	0.23	-0.0225	8.8861	0.35404	0.2784:0.4843:0.2372:0.0	.	373;378;370	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	L	378;373;369;373	ENSP00000362814:V378L;ENSP00000444307:V373L;ENSP00000362813:V369L;ENSP00000439048:V373L	ENSP00000362813:V369L	V	+	1	0	SERINC2	31678492	0.207000	0.23482	0.003000	0.11579	0.114000	0.19823	0.165000	0.16564	-1.522000	0.01769	-1.844000	0.00574	GTG	.	.		0.632	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565	
CSMD2	114784	hgsc.bcm.edu	37	1	34191012	34191012	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:34191012A>G	ENST00000373381.4	-	17	2809	c.2633T>C	c.(2632-2634)cTc>cCc	p.L878P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	838	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGAGGTAGAGGTAGTTGCT	0.567																																					p.L838P		Atlas-SNP	.											.	CSMD2	946	.	0			c.T2513C						.						118.0	112.0	114.0					1																	34191012		2203	4300	6503	SO:0001583	missense	114784	exon17			AGGTAGAGGTAGT	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2633T>C	chr1.hg19:g.34191012A>G	ENSP00000362479:p.Leu878Pro	182.0	0.0		133.0	6.0	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	hg19		.	.	.	.	.	.	.	.	.	.	A	16.91	3.253989	0.59212	.	.	ENSG00000121904	ENST00000373381	T	0.23754	1.89	5.89	5.89	0.94794	CUB (5);	0.000000	0.64402	D	0.000001	T	0.64472	0.2601	H	0.96398	3.815	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.75020	0.985;0.985	T	0.76110	-0.3079	10	0.59425	D	0.04	.	15.497	0.75662	1.0:0.0:0.0:0.0	.	838;878	Q7Z408;E7EUA6	CSMD2_HUMAN;.	P	878	ENSP00000362479:L878P	ENSP00000241312:L838P	L	-	2	0	CSMD2	33963599	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	9.313000	0.96297	2.254000	0.74563	0.533000	0.62120	CTC	.	.		0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
RIMKLA	284716	hgsc.bcm.edu	37	1	42865162	42865162	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:42865162A>G	ENST00000431473.3	+	2	380	c.251A>G	c.(250-252)gAc>gGc	p.D84G		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	84					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCAGACAGTGACATCACTGTC	0.537																																					p.D84G		Atlas-SNP	.											.	RIMKLA	32	.	0			c.A251G						.						59.0	50.0	53.0					1																	42865162		2203	4300	6503	SO:0001583	missense	284716	exon2			ACAGTGACATCAC	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.251A>G	chr1.hg19:g.42865162A>G	ENSP00000414330:p.Asp84Gly	113.0	0.0		123.0	5.0	NM_173642	Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	hg19	CCDS466.2	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163609	0.57476	.	.	ENSG00000177181	ENST00000431473	.	.	.	4.82	4.82	0.62117	.	0.100872	0.64402	D	0.000004	T	0.34106	0.0886	L	0.29908	0.895	0.53688	D	0.999971	P	0.34800	0.469	B	0.31751	0.135	T	0.22836	-1.0205	9	0.02654	T	1	-31.8	12.3756	0.55279	1.0:0.0:0.0:0.0	.	84	Q8IXN7	RIMKA_HUMAN	G	84	.	ENSP00000414330:D84G	D	+	2	0	RIMKLA	42637749	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	9.105000	0.94246	2.027000	0.59764	0.528000	0.53228	GAC	.	.		0.537	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642	
LEPRE1	64175	hgsc.bcm.edu	37	1	43218242	43218242	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:43218242T>C	ENST00000296388.5	-	9	1490	c.1439A>G	c.(1438-1440)gAc>gGc	p.D480G	LEPRE1_ENST00000236040.4_Missense_Mutation_p.D480G|LEPRE1_ENST00000397054.3_Missense_Mutation_p.D480G			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	480					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACACTCGTGGTCAGAGATTAC	0.577																																					p.D480G		Atlas-SNP	.											.	LEPRE1	130	.	0			c.A1439G						.						107.0	93.0	97.0					1																	43218242		2203	4300	6503	SO:0001583	missense	64175	exon9			TCGTGGTCAGAGA	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1439A>G	chr1.hg19:g.43218242T>C	ENSP00000296388:p.Asp480Gly	101.0	0.0		88.0	4.0	NM_001146289	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	hg19	CCDS472.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	7.280|7.280	0.608993|0.608993	0.14066|0.14066	.|.	.|.	ENSG00000117385|ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027|ENST00000447502	T;T;T|.	0.62941|.	-0.01;-0.01;-0.01|.	4.96|4.96	0.978|0.978	0.19740|0.19740	Prolyl 4-hydroxylase, alpha subunit (1);|.	0.794069|.	0.12097|.	N|.	0.499890|.	T|.	0.38532|.	0.1044|.	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;B|.	0.34399|.	0.452;0.025;0.126|.	B;B;B|.	0.36567|.	0.228;0.022;0.05|.	T|.	0.31336|.	-0.9947|.	10|.	0.62326|.	D|.	0.03|.	-5.3158|-5.3158	11.3813|11.3813	0.49759|0.49759	0.0:0.0:0.4386:0.5614|0.0:0.0:0.4386:0.5614	.|.	480;345;480|.	Q32P28-3;B4DNM8;Q32P28|.	.;.;P3H1_HUMAN|.	G|W	480;480;480;345|71	ENSP00000380245:D480G;ENSP00000236040:D480G;ENSP00000296388:D480G|.	ENSP00000236040:D480G|.	D|X	-|-	2|3	0|0	LEPRE1|LEPRE1	42990829|42990829	0.109000|0.109000	0.22037|0.22037	0.200000|0.200000	0.23457|0.23457	0.032000|0.032000	0.12392|0.12392	1.207000|1.207000	0.32333|0.32333	0.350000|0.350000	0.24002|0.24002	0.375000|0.375000	0.23000|0.23000	GAC|TGA	.	.		0.577	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356	
NRD1	4898	hgsc.bcm.edu	37	1	52306079	52306079	+	Missense_Mutation	SNP	T	T	A	rs62648104		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:52306079T>A	ENST00000354831.7	-	2	638	c.449A>T	c.(448-450)gAg>gTg	p.E150V	NRD1_ENST00000544028.1_Missense_Mutation_p.E18V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.E150V|NRD1_ENST00000539524.1_Missense_Mutation_p.E18V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ttcttcttcctccacctcctc	0.378																																					p.E150V		Atlas-SNP	.											.	NRD1	89	.	0			c.A449T						.						163.0	138.0	146.0					1																	52306079		2203	4300	6503	SO:0001583	missense	4898	exon2			TCTTCCTCCACCT	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.449A>T	chr1.hg19:g.52306079T>A	ENSP00000346890:p.Glu150Val	254.0	0.0		201.0	23.0	NM_001101662	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	hg19	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	3.056	-0.194350	0.06259	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.38240	1.31;3.15;1.15;1.22	5.25	2.92	0.33932	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.525899	0.19688	N	0.108344	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23650	0.062;0.089;0.01	B;B;B	0.17098	0.017;0.007;0.007	T	0.14755	-1.0461	10	0.38643	T	0.18	-0.0317	5.1939	0.15225	0.0:0.1704:0.2022:0.6274	rs62648104	150;150;150	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	V	150;150;18;150;18	ENSP00000262679:E150V;ENSP00000346890:E150V;ENSP00000444416:E18V;ENSP00000442262:E18V	ENSP00000262679:E150V	E	-	2	0	NRD1	52078667	0.129000	0.22400	0.012000	0.15200	0.145000	0.21501	0.870000	0.28010	0.317000	0.23160	0.454000	0.30748	GAG	.	T|0.024;A|0.976		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
ZFYVE9	9372	hgsc.bcm.edu	37	1	52703754	52703754	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:52703754A>G	ENST00000371591.1	+	3	796	c.665A>G	c.(664-666)gAg>gGg	p.E222G	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E222G|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E222G	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	222					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCGAAAACAGAGGGGAGATCT	0.378																																					p.E222G		Atlas-SNP	.											.	ZFYVE9	131	.	0			c.A665G						.						93.0	96.0	95.0					1																	52703754		2203	4300	6503	SO:0001583	missense	9372	exon4			AAACAGAGGGGAG	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.665A>G	chr1.hg19:g.52703754A>G	ENSP00000360647:p.Glu222Gly	80.0	0.0		98.0	4.0	NM_007323	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	hg19	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	2.181	-0.387466	0.04932	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.12	1.43	0.22495	.	0.225560	0.30244	N	0.010070	T	0.29749	0.0743	N	0.19112	0.55	0.09310	N	1	B;B;P	0.43477	0.277;0.181;0.808	B;B;P	0.44359	0.203;0.062;0.447	T	0.08889	-1.0700	10	0.27785	T	0.31	.	4.8304	0.13437	0.712:0.0:0.1514:0.1367	.	222;222;222	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	G	222	ENSP00000349737:E222G;ENSP00000355358:E222G;ENSP00000287727:E222G;ENSP00000360647:E222G	ENSP00000287727:E222G	E	+	2	0	ZFYVE9	52476342	1.000000	0.71417	0.090000	0.20809	0.015000	0.08874	3.211000	0.51137	0.401000	0.25424	0.533000	0.62120	GAG	.	.		0.378	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
FPGT	8790	hgsc.bcm.edu	37	1	74670761	74670761	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:74670761A>G	ENST00000609362.1	+	4	1067	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.T357A|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000524915.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	344					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TCTTAAAGGAACATCACTAAA	0.333																																					p.T344A		Atlas-SNP	.											.	FPGT	77	.	0			c.A1030G						.						56.0	58.0	57.0					1																	74670761		2203	4299	6502	SO:0001583	missense	8790	exon4			AAAGGAACATCAC	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1030A>G	chr1.hg19:g.74670761A>G	ENSP00000476680:p.Thr344Ala	103.0	0.0		87.0	4.0	NM_003838	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	hg19	CCDS663.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119137	0.56505	.	.	ENSG00000254685	ENST00000370898	T	0.31769	1.48	5.81	4.67	0.58626	L-fucokinase (1);	.	.	.	.	T	0.21761	0.0524	M	0.64404	1.975	0.50039	D	0.999844	P	0.36712	0.566	B	0.43990	0.438	T	0.07888	-1.0749	8	.	.	.	.	6.7053	0.23246	0.7925:0.0:0.0732:0.1343	.	344	O14772	FPGT_HUMAN	A	344	ENSP00000359935:T344A	.	T	+	1	0	TNNI3K	74443349	1.000000	0.71417	0.984000	0.44739	0.882000	0.50991	4.588000	0.60999	2.217000	0.71921	0.533000	0.62120	ACA	.	.		0.333	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CLCA2	9635	hgsc.bcm.edu	37	1	86904780	86904780	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:86904780A>G	ENST00000370565.4	+	7	1356	c.1194A>G	c.(1192-1194)aaA>aaG	p.K398K		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	398	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGCTTAAGAAAGGATTTGAGG	0.413																																					p.K398K	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Atlas-SNP	.											.	CLCA2	102	.	0			c.A1194G						.						104.0	92.0	96.0					1																	86904780		2203	4300	6503	SO:0001819	synonymous_variant	9635	exon7			TAAGAAAGGATTT		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1194A>G	chr1.hg19:g.86904780A>G		136.0	0.0		88.0	4.0	NM_006536	A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	hg19	CCDS708.1																																																																																			.	.		0.413	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	
GTF2B	2959	hgsc.bcm.edu	37	1	89322918	89322918	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:89322918T>C	ENST00000370500.5	-	6	906	c.788A>G	c.(787-789)cAg>cGg	p.Q263R	GTF2B_ENST00000494819.1_5'Flank	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	263					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		AGCTGATGCCTGTGAGGCCAT	0.483																																					p.Q263R		Atlas-SNP	.											.	GTF2B	32	.	0			c.A788G						.						89.0	87.0	88.0					1																	89322918		2203	4300	6503	SO:0001583	missense	2959	exon6			GATGCCTGTGAGG	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.788A>G	chr1.hg19:g.89322918T>C	ENSP00000359531:p.Gln263Arg	169.0	0.0		79.0	4.0	NM_001514	A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	hg19	CCDS715.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477253	0.84640	.	.	ENSG00000137947	ENST00000370500	T	0.42513	0.97	5.11	5.11	0.69529	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	L	0.34521	1.04	0.80722	D	1	D	0.55605	0.972	P	0.57620	0.824	T	0.06881	-1.0802	10	0.25106	T	0.35	-12.0181	15.2051	0.73173	0.0:0.0:0.0:1.0	.	263	Q00403	TF2B_HUMAN	R	263	ENSP00000359531:Q263R	ENSP00000359531:Q263R	Q	-	2	0	GTF2B	89095506	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.568000	0.82369	2.053000	0.61076	0.459000	0.35465	CAG	.	.		0.483	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514	
EVI5	7813	hgsc.bcm.edu	37	1	93167745	93167745	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:93167745C>T	ENST00000370331.1	-	5	733	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	EVI5_ENST00000543509.1_Missense_Mutation_p.G242S|EVI5_ENST00000540033.1_Missense_Mutation_p.G242S|RNU4-59P_ENST00000364447.1_RNA	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	242	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGACAGTAACCAACCTCACGA	0.299																																					p.G242S		Atlas-SNP	.											.	EVI5	94	.	0			c.G724A						.						71.0	68.0	69.0					1																	93167745		2203	4298	6501	SO:0001583	missense	7813	exon5			AGTAACCAACCTC	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.724G>A	chr1.hg19:g.93167745C>T	ENSP00000359356:p.Gly242Ser	151.0	0.0		91.0	4.0	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	hg19	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381453	0.95945	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.10005	2.92;2.92;2.92	5.41	5.41	0.78517	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.88105	2.93	0.80722	D	1	P;P	0.38250	0.571;0.624	P;P	0.48770	0.453;0.589	T	0.02498	-1.1150	10	0.87932	D	0	-15.0775	19.1919	0.93671	0.0:1.0:0.0:0.0	.	242;242	F5H4R0;O60447	.;EVI5_HUMAN	S	242	ENSP00000359356:G242S;ENSP00000440826:G242S;ENSP00000445019:G242S	ENSP00000359356:G242S	G	-	1	0	EVI5	92940333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.711000	0.84669	2.539000	0.85634	0.650000	0.86243	GGT	.	.		0.299	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
GPSM2	29899	hgsc.bcm.edu	37	1	109465167	109465168	+	Missense_Mutation	DNP	TT	TT	AA	rs374875864|rs79761186|rs35029887|rs201481482	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:109465167_109465168TT>AA	ENST00000406462.2	+	14	2342_2343	c.1569_1570TT>AA	c.(1567-1572)acTTct>acAAct	p.S524T	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.S524T			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	524					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CAACAACAACTTCTTCCACTCC	0.371																																					p.T523T|p.S524T		Atlas-SNP	.											.	GPSM2	56	.	0			c.T1569A|c.T1570A						.																																			SO:0001583	missense	29899	exon13			AACAACTTCTTCC|ACAACTTCTTCCA	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	Exception_encountered	chr1.hg19:g.109465167_109465168delinsAA	ENSP00000385510:p.Ser524Thr	94.0|95.0	0.0		37.0	8.0	NM_013296	Q5T1N8|Q6IBL7|Q8N0Z5	Silent|Missense_Mutation	SNP	ENST00000406462.2	hg19	CCDS792.2																																																																																			.	.		0.371	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296	
CELSR2	1952	hgsc.bcm.edu	37	1	109793709	109793709	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:109793709C>T	ENST00000271332.3	+	1	1069	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	336	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGGCAGCCCCTCTGAAGTCT	0.602																																					p.P336P	NSCLC(158;1285 2011 34800 34852 42084)	Atlas-SNP	.											.	CELSR2	228	.	0			c.C1008T						.						72.0	77.0	75.0					1																	109793709		2203	4300	6503	SO:0001819	synonymous_variant	1952	exon1			CAGCCCCTCTGAA	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1008C>T	chr1.hg19:g.109793709C>T		65.0	0.0		56.0	25.0	NM_001408	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	hg19	CCDS796.1																																																																																			.	.		0.602	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
GNAI3	2773	hgsc.bcm.edu	37	1	110134757	110134757	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:110134757T>C	ENST00000369851.4	+	8	1077	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L	RNU6V_ENST00000384105.1_RNA	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	323					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		CTATACTCACTTCACCTGTGC	0.378																																					p.F323L		Atlas-SNP	.											.	GNAI3	25	.	0			c.T967C						.						131.0	121.0	124.0					1																	110134757		2203	4300	6503	SO:0001583	missense	2773	exon8			ACTCACTTCACCT	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.967T>C	chr1.hg19:g.110134757T>C	ENSP00000358867:p.Phe323Leu	171.0	0.0		119.0	5.0	NM_006496	P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	hg19	CCDS802.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207310	0.58343	.	.	ENSG00000065135	ENST00000369851	D	0.89270	-2.49	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	L	0.45581	1.43	0.80722	D	1	B	0.15719	0.014	B	0.24155	0.051	T	0.78219	-0.2289	10	0.41790	T	0.15	.	16.3246	0.82970	0.0:0.0:0.0:1.0	.	323	P08754	GNAI3_HUMAN	L	323	ENSP00000358867:F323L	ENSP00000358867:F323L	F	+	1	0	GNAI3	109936280	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.291000	0.72719	2.333000	0.79357	0.482000	0.46254	TTC	.	.		0.378	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496	
ALX3	257	hgsc.bcm.edu	37	1	110607343	110607343	+	Missense_Mutation	SNP	G	G	T	rs535409677		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:110607343G>T	ENST00000369792.4	-	2	547	c.460C>A	c.(460-462)Cgt>Agt	p.R154S	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	154					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGTTACGACGCTTCTTGCTC	0.592																																					p.R154S		Atlas-SNP	.											.	ALX3	16	.	0			c.C460A						.						110.0	109.0	109.0					1																	110607343		2203	4300	6503	SO:0001583	missense	257	exon2			TACGACGCTTCTT	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.460C>A	chr1.hg19:g.110607343G>T	ENSP00000358807:p.Arg154Ser	344.0	0.0		220.0	118.0	NM_006492	O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	hg19	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368747	0.61624	.	.	ENSG00000156150	ENST00000369792	D	0.97186	-4.28	4.04	4.04	0.47022	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.98966	0.9648	H	0.99325	4.515	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.98737	1.0715	10	0.87932	D	0	.	9.4814	0.38902	0.0:0.0:0.7884:0.2116	.	154	O95076	ALX3_HUMAN	S	154	ENSP00000358807:R154S	ENSP00000358807:R154S	R	-	1	0	ALX3	110408866	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.231000	0.32624	1.940000	0.56252	0.462000	0.41574	CGT	.	.		0.592	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492	
MAGI3	260425	hgsc.bcm.edu	37	1	114196530	114196530	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:114196530T>C	ENST00000307546.9	+	15	2594	c.2519T>C	c.(2518-2520)gTc>gCc	p.V840A	MAGI3_ENST00000369611.4_Missense_Mutation_p.V840A|MAGI3_ENST00000369617.4_Missense_Mutation_p.V865A|MAGI3_ENST00000369615.1_Missense_Mutation_p.V840A	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	865					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGCAGAGGTCCCAGCCAGG	0.488																																					p.V840A		Atlas-SNP	.											.	MAGI3	181	.	0			c.T2519C						.						184.0	199.0	194.0					1																	114196530		2203	4300	6503	SO:0001583	missense	260425	exon15			CAGAGGTCCCAGC	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2519T>C	chr1.hg19:g.114196530T>C	ENSP00000304604:p.Val840Ala	89.0	0.0		86.0	5.0	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	hg19	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	T	1.349	-0.592041	0.03799	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.15256	2.59;2.44;2.59;2.59	5.41	-1.86	0.07760	.	0.611971	0.17840	N	0.160238	T	0.02970	0.0088	L	0.38175	1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.002	T	0.45687	-0.9244	10	0.16420	T	0.52	-9.1139	7.0519	0.25077	0.0:0.1296:0.3481:0.5223	.	840;840;865	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	A	865;840;840;840	ENSP00000358630:V865A;ENSP00000304604:V840A;ENSP00000358628:V840A;ENSP00000358624:V840A	ENSP00000304604:V840A	V	+	2	0	MAGI3	113998053	0.001000	0.12720	0.001000	0.08648	0.089000	0.18198	0.495000	0.22483	-0.146000	0.11274	-0.250000	0.11733	GTC	.	.		0.488	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
MTMR11	10903	hgsc.bcm.edu	37	1	149901687	149901687	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:149901687C>T	ENST00000439741.2	-	16	2019	c.1769G>A	c.(1768-1770)cGt>cAt	p.R590H	MTMR11_ENST00000406732.3_3'UTR|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000369140.3_Missense_Mutation_p.R518H|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	590	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGGAGCCAACGAGAAGAGAC	0.597																																					p.R590H		Atlas-SNP	.											MTMR11_ENST00000439741,NS,carcinoma,0,2	MTMR11	136	.	0			c.G1769A						.						58.0	63.0	61.0					1																	149901687		2203	4300	6503	SO:0001583	missense	10903	exon16			AGCCAACGAGAAG	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1769G>A	chr1.hg19:g.149901687C>T	ENSP00000391668:p.Arg590His	83.0	0.0		130.0	20.0	NM_001145862	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	hg19	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102395	0.37145	.	.	ENSG00000014914	ENST00000369140;ENST00000439741	T;T	0.40476	1.03;1.03	5.13	4.21	0.49690	Myotubularin phosphatase domain (1);	0.461097	0.23510	N	0.047406	T	0.11067	0.0270	N	0.08118	0	0.80722	D	1	B;B	0.17268	0.017;0.021	B;B	0.12837	0.005;0.008	T	0.05517	-1.0880	10	0.52906	T	0.07	.	9.8951	0.41314	0.0:0.9039:0.0:0.0961	.	518;590	A4FU01-4;A4FU01	.;MTMRB_HUMAN	H	518;590	ENSP00000358136:R518H;ENSP00000391668:R590H	ENSP00000358136:R518H	R	-	2	0	MTMR11	148168311	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	2.224000	0.42945	1.366000	0.46076	0.655000	0.94253	CGT	.	.		0.597	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	
KPRP	448834	hgsc.bcm.edu	37	1	152733725	152733725	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:152733725G>C	ENST00000606109.1	+	1	1689	c.1661G>C	c.(1660-1662)cGg>cCg	p.R554P	KPRP_ENST00000368773.1_Missense_Mutation_p.R554P			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	554						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R554Q(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCCAGAGCGGAGGGGTCAG	0.542																																					p.R554P		Atlas-SNP	.											KPRP,colon,carcinoma,+1,2	KPRP	152	.	2	Substitution - Missense(2)	ovary(2)	c.G1661C						.						77.0	71.0	73.0					1																	152733725		2203	4300	6503	SO:0001583	missense	448834	exon2			CAGAGCGGAGGGG	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1661G>C	chr1.hg19:g.152733725G>C	ENSP00000475216:p.Arg554Pro	129.0	0.0		259.0	11.0	NM_001025231		Missense_Mutation	SNP	ENST00000606109.1	hg19	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	0.397	-0.920244	0.02396	.	.	ENSG00000203786	ENST00000368773	T	0.10960	2.82	3.93	3.0	0.34707	.	0.412789	0.17984	N	0.155435	T	0.00875	0.0029	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48885	-0.8995	10	0.23302	T	0.38	-0.1704	9.6976	0.40167	0.0:0.7826:0.2174:0.0	.	554	Q5T749	KPRP_HUMAN	P	554	ENSP00000357762:R554P	ENSP00000357762:R554P	R	+	2	0	KPRP	151000349	0.002000	0.14202	0.078000	0.20375	0.043000	0.13939	0.661000	0.25023	1.013000	0.39391	-0.802000	0.03209	CGG	.	.		0.542	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
PGLYRP4	57115	hgsc.bcm.edu	37	1	153317700	153317700	+	Missense_Mutation	SNP	G	G	A	rs554667521		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:153317700G>A	ENST00000359650.5	-	4	362	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R96W	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	100					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCAGTTCCCGCAGTCTCTGG	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19259	0.0		0.0	False		,,,				2504	0.0				p.R100W		Atlas-SNP	.											.	PGLYRP4	45	.	0			c.C298T						.						103.0	96.0	98.0					1																	153317700		2203	4300	6503	SO:0001583	missense	57115	exon4			GTTCCCGCAGTCT	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.298C>T	chr1.hg19:g.153317700G>A	ENSP00000352672:p.Arg100Trp	65.0	0.0		107.0	10.0	NM_020393	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	hg19	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654278	0.29425	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.27720	1.65;1.65	3.2	1.06	0.20224	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	.	.	.	.	T	0.21347	0.0514	M	0.93420	3.415	0.27233	N	0.959342	P;P	0.36535	0.501;0.557	B;B	0.34093	0.109;0.175	T	0.31364	-0.9946	9	0.87932	D	0	-18.1578	3.3148	0.07029	0.1447:0.0:0.6002:0.255	.	96;100	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	W	96;100	ENSP00000357728:R96W;ENSP00000352672:R100W	ENSP00000352672:R100W	R	-	1	2	PGLYRP4	151584324	0.014000	0.17966	0.997000	0.53966	0.586000	0.36452	0.665000	0.25083	0.691000	0.31592	0.313000	0.20887	CGG	.	.		0.552	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	
SMG5	23381	hgsc.bcm.edu	37	1	156236144	156236144	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:156236144T>C	ENST00000361813.5	-	12	1427	c.1283A>G	c.(1282-1284)gAg>gGg	p.E428G	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	428					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CTCCTCTTTCTCCACAGGTTC	0.577																																					p.E428G		Atlas-SNP	.											.	SMG5	98	.	0			c.A1283G						.						42.0	44.0	43.0					1																	156236144		2203	4300	6503	SO:0001583	missense	23381	exon12			TCTTTCTCCACAG	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1283A>G	chr1.hg19:g.156236144T>C	ENSP00000355261:p.Glu428Gly	39.0	0.0		104.0	5.0	NM_015327	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	hg19	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240870	0.39598	.	.	ENSG00000198952	ENST00000361813	T	0.34072	1.38	5.52	4.41	0.53225	.	1.103060	0.06747	N	0.779308	T	0.13798	0.0334	N	0.21373	0.66	0.80722	D	1	P	0.35793	0.521	B	0.31946	0.138	T	0.03433	-1.1037	10	0.52906	T	0.07	-8.2368	9.8528	0.41068	0.0:0.081:0.0:0.919	.	428	Q9UPR3	SMG5_HUMAN	G	428	ENSP00000355261:E428G	ENSP00000355261:E428G	E	-	2	0	SMG5	154502768	1.000000	0.71417	0.524000	0.27887	0.804000	0.45430	2.241000	0.43097	2.097000	0.63578	0.460000	0.39030	GAG	.	.		0.577	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327	
KLHL20	27252	hgsc.bcm.edu	37	1	173720986	173720986	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:173720986T>C	ENST00000209884.4	+	4	817	c.681T>C	c.(679-681)agT>agC	p.S227S	KLHL20_ENST00000546011.1_Silent_p.S38S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	227	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACGTTCGCAGTGAAGAACAAG	0.403																																					p.S227S	GBM(159;862 2695 6559 23041)	Atlas-SNP	.											.	KLHL20	54	.	0			c.T681C						.						106.0	93.0	97.0					1																	173720986		2203	4300	6503	SO:0001819	synonymous_variant	27252	exon4			TCGCAGTGAAGAA	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.681T>C	chr1.hg19:g.173720986T>C		92.0	0.0		110.0	5.0	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	hg19	CCDS1310.1																																																																																			.	.		0.403	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458	
TNR	7143	hgsc.bcm.edu	37	1	175323568	175323568	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:175323568T>C	ENST00000367674.2	-	18	4049	c.3341A>G	c.(3340-3342)gAc>gGc	p.D1114G	TNR_ENST00000263525.2_Missense_Mutation_p.D1114G			Q92752	TENR_HUMAN	tenascin R	1114	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCACGTGGTGTCCTGTGCTGC	0.542																																					p.D1114G		Atlas-SNP	.											.	TNR	399	.	0			c.A3341G						.						177.0	133.0	148.0					1																	175323568		2203	4300	6503	SO:0001583	missense	7143	exon18			GTGGTGTCCTGTG	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3341A>G	chr1.hg19:g.175323568T>C	ENSP00000356646:p.Asp1114Gly	103.0	0.0		88.0	4.0	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	0.177	-1.065603	0.01934	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.51817	0.69;0.69	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.185170	0.46758	D	0.000264	T	0.19366	0.0465	N	0.01454	-0.855	0.33085	D	0.537202	B	0.02656	0.0	B	0.08055	0.003	T	0.17349	-1.0372	10	0.02654	T	1	.	14.9274	0.70890	0.0:0.0:0.0:1.0	.	1114	Q92752	TENR_HUMAN	G	1114;1114;1024	ENSP00000356646:D1114G;ENSP00000263525:D1114G	ENSP00000263525:D1114G	D	-	2	0	TNR	173590191	1.000000	0.71417	0.890000	0.34922	0.044000	0.14063	5.345000	0.65987	2.010000	0.58986	0.528000	0.53228	GAC	.	.		0.542	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
RALGPS2	55103	hgsc.bcm.edu	37	1	178854228	178854228	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:178854228T>C	ENST00000367635.3	+	12	1260	c.922T>C	c.(922-924)Tct>Cct	p.S308P	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.S308P	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	308					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGTAGGAGCGTCTCCACAGAG	0.423																																					p.S308P		Atlas-SNP	.											.	RALGPS2	69	.	0			c.T922C						.						65.0	67.0	66.0					1																	178854228		2203	4300	6503	SO:0001583	missense	55103	exon12			GGAGCGTCTCCAC	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.922T>C	chr1.hg19:g.178854228T>C	ENSP00000356607:p.Ser308Pro	115.0	0.0		97.0	4.0	NM_152663	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	hg19	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.09|13.09	2.132716|2.132716	0.37630|0.37630	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778|ENST00000415888	T;T;T|.	0.42900|.	0.96;0.96;0.96|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.731376|.	0.13484|.	N|.	0.384425|.	T|T	0.68155|0.68155	0.2970|0.2970	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;B|.	0.13145|.	0.007;0.006|.	B;B|.	0.16289|.	0.005;0.015|.	T|T	0.65998|0.65998	-0.6032|-0.6032	10|5	0.54805|.	T|.	0.06|.	.|.	15.4899|15.4899	0.75597|0.75597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	308;308|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	P|A	308;308;273|45	ENSP00000356607:S308P;ENSP00000356606:S308P;ENSP00000313613:S273P|.	ENSP00000313613:S273P|.	S|V	+|+	1|2	0|0	RALGPS2|RALGPS2	177120851|177120851	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.269000|0.269000	0.26545|0.26545	7.329000|7.329000	0.79170|0.79170	2.148000|2.148000	0.66965|0.66965	0.477000|0.477000	0.44152|0.44152	TCT|GTC	.	.		0.423	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	
AXDND1	126859	hgsc.bcm.edu	37	1	179504037	179504037	+	Missense_Mutation	SNP	G	G	C	rs200097954|rs368406759|rs6425573	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:179504037G>C	ENST00000367618.3	+	25	3358	c.2971G>C	c.(2971-2973)Gaa>Caa	p.E991Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaagaagaagaacaacaaga	0.318													G|||	14	0.00279553	0.0	0.0058	5008	,	,		17137	0.002		0.004	False		,,,				2504	0.0041				p.E991Q		Atlas-SNP	.											.	AXDND1	142	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.G2971C						.						49.0	51.0	50.0					1																	179504037		2152	4286	6438	SO:0001583	missense	126859	exon25			GAAGAAGAACAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2971G>C	chr1.hg19:g.179504037G>C	ENSP00000356590:p.Glu991Gln	166.0	0.0		146.0	12.0	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	hg19	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052898	0.19907	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.17	4.89	-6.02	0.02192	.	0.508747	0.16499	N	0.211773	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.10450	0.003;0.005	T	0.15838	-1.0423	10	0.28530	T	0.3	-2.8152	6.1976	0.20557	0.4456:0.3814:0.173:0.0	rs6425573	875;991	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	991;875;851	ENSP00000356590:E991Q;ENSP00000391716:E851Q	ENSP00000353471:E875Q	E	+	1	0	AXDND1	177770660	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.365000	0.20348	-1.164000	0.02790	-1.047000	0.02352	GAA	.	G|1.000;|0.000		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
KIAA1614	57710	hgsc.bcm.edu	37	1	180905383	180905383	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:180905383T>C	ENST00000367588.4	+	5	2393	c.2338T>C	c.(2338-2340)Tcc>Ccc	p.S780P	KIAA1614_ENST00000367587.1_Missense_Mutation_p.S401P	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	780										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTCTCCTTCCTCCCTGCAACA	0.622																																					p.S780P		Atlas-SNP	.											.	KIAA1614	75	.	0			c.T2338C						.						85.0	90.0	88.0					1																	180905383		2051	4191	6242	SO:0001583	missense	57710	exon5			CCTTCCTCCCTGC	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2338T>C	chr1.hg19:g.180905383T>C	ENSP00000356560:p.Ser780Pro	97.0	0.0		97.0	4.0	NM_020950	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	hg19	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020779	0.35606	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.50001	0.76;0.76	4.18	1.87	0.25490	.	0.889183	0.09756	N	0.759938	T	0.20455	0.0492	N	0.11560	0.145	0.30945	N	0.725333	B	0.31227	0.314	B	0.31337	0.128	T	0.32955	-0.9887	9	0.02654	T	1	-4.2309	2.4174	0.04439	0.2776:0.2408:0.0:0.4815	.	780	Q5VZ46	K1614_HUMAN	P	780;401	ENSP00000356560:S780P;ENSP00000356559:S401P	ENSP00000356559:S401P	S	+	1	0	KIAA1614	179172006	0.000000	0.05858	0.036000	0.18154	0.806000	0.45545	0.273000	0.18662	0.494000	0.27859	0.459000	0.35465	TCC	.	.		0.622	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
CACNA1E	777	hgsc.bcm.edu	37	1	181767537	181767537	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:181767537T>C	ENST00000367573.2	+	48	6509	c.6509T>C	c.(6508-6510)cTt>cCt	p.L2170P	CACNA1E_ENST00000357570.5_Missense_Mutation_p.L2121P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1734P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L2151P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L2127P|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L2108P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L2059P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2170					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGCCCCTCCTTTCCTACAGC	0.632																																					p.L2170P		Atlas-SNP	.											.	CACNA1E	778	.	0			c.T6509C						.						70.0	81.0	77.0					1																	181767537		1983	4164	6147	SO:0001583	missense	777	exon48			CCCTCCTTTCCTA	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6509T>C	chr1.hg19:g.181767537T>C	ENSP00000356545:p.Leu2170Pro	90.0	0.0		74.0	4.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113757	0.77210	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96459	-3.96;-3.96;-4.01;-3.96;-4.02;-4.02;-4.01	5.55	5.55	0.83447	.	0.391255	0.26035	N	0.026732	D	0.95421	0.8513	N	0.22421	0.69	0.80722	D	1	D;P	0.59767	0.986;0.946	P;P	0.57152	0.814;0.777	D	0.96273	0.9200	10	0.72032	D	0.01	.	15.432	0.75108	0.0:0.0:0.0:1.0	.	2108;2127	Q15878-2;Q15878-3	.;.	P	2127;2108;2121;2059;1734;2151;2170	ENSP00000356542:L2127P;ENSP00000434814:L2108P;ENSP00000350183:L2121P;ENSP00000351101:L2059P;ENSP00000356539:L1734P;ENSP00000353222:L2151P;ENSP00000356545:L2170P	ENSP00000350183:L2121P	L	+	2	0	CACNA1E	180034160	1.000000	0.71417	0.966000	0.40874	0.984000	0.73092	7.344000	0.79328	2.117000	0.64856	0.456000	0.33151	CTT	.	.		0.632	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
DHX9	1660	hgsc.bcm.edu	37	1	182822524	182822524	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:182822524T>C	ENST00000367549.3	+	5	558	c.448T>C	c.(448-450)Tca>Cca	p.S150P		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	150	Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GGATTACTACTCAAGAAAGGA	0.453																																					p.S150P	Colon(69;210 1162 3697 13559 39565)	Atlas-SNP	.											.	DHX9	114	.	0			c.T448C						.						58.0	62.0	61.0					1																	182822524		1900	4117	6017	SO:0001583	missense	1660	exon5			TACTACTCAAGAA	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.448T>C	chr1.hg19:g.182822524T>C	ENSP00000356520:p.Ser150Pro	83.0	0.0		90.0	4.0	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029746	0.35797	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.03745	3.82	5.67	3.14	0.36123	.	0.267312	0.28933	N	0.013679	T	0.03390	0.0098	L	0.31065	0.9	0.38312	D	0.943282	B	0.27594	0.182	B	0.30179	0.112	T	0.51140	-0.8743	10	0.29301	T	0.29	.	9.1942	0.37217	0.2894:0.0:0.0:0.7106	.	150	Q08211	DHX9_HUMAN	P	150	ENSP00000356520:S150P	ENSP00000356520:S150P	S	+	1	0	DHX9	181089147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.133000	0.42093	0.922000	0.37019	0.528000	0.53228	TCA	.	.		0.453	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
TROVE2	6738	hgsc.bcm.edu	37	1	193060792	193060792	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:193060792A>G	ENST00000367445.3	+	10	1783	c.1596A>G	c.(1594-1596)atA>atG	p.I532M	TROVE2_ENST00000367443.1_3'UTR|TROVE2_ENST00000367444.3_Missense_Mutation_p.T519A|RP11-101E13.5_ENST00000608166.1_RNA	NM_001042370.2	NP_001035829.2	P10155	RO60_HUMAN	TROVE domain family, member 2	0	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CTTGCAAAATACCCTACTAAA	0.318																																					p.I532M		Atlas-SNP	.											.	TROVE2	50	.	0			c.A1596G						.						115.0	108.0	110.0					1																	193060792		1847	4095	5942	SO:0001583	missense	6738	exon10			CAAAATACCCTAC	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367445.3:c.1596A>G	chr1.hg19:g.193060792A>G	ENSP00000356415:p.Ile532Met	89.0	0.0		97.0	4.0	NM_001042370	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367445.3	hg19	CCDS41450.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.009|0.009	-1.823510|-1.823510	0.00589|0.00589	.|.	.|.	ENSG00000116747|ENSG00000116747	ENST00000367445|ENST00000367444	.|.	.|.	.|.	5.13|5.13	-0.0422|-0.0422	0.13864|0.13864	.|.	.|.	.|.	.|.	.|.	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.06786|0.02656	0.001|0.0	B|B	0.06405|0.01281	0.002|0.0	T|T	0.20273|0.20273	-1.0280|-1.0280	8|8	0.87932|0.66056	D|D	0|0.02	.|.	5.7028|5.7028	0.17891|0.17891	0.4838:0.3562:0.1601:0.0|0.4838:0.3562:0.1601:0.0	.|.	532|519	Q5LJ99|Q5LJA0	.|.	M|A	532|519	.|.	ENSP00000356415:I532M|ENSP00000356414:T519A	I|T	+|+	3|1	3|0	TROVE2|TROVE2	191327415|191327415	0.780000|0.780000	0.28664|0.28664	0.046000|0.046000	0.18839|0.18839	0.469000|0.469000	0.32828|0.32828	0.447000|0.447000	0.21710|0.21710	-0.097000|-0.097000	0.12307|0.12307	0.533000|0.533000	0.62120|0.62120	ATA|ACC	.	.		0.318	TROVE2-005	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000086692.1	NM_004600	
KCNT2	343450	hgsc.bcm.edu	37	1	196295981	196295981	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:196295981A>G	ENST00000294725.9	-	19	3057	c.2142T>C	c.(2140-2142)taT>taC	p.Y714Y	KCNT2_ENST00000367431.4_Silent_p.Y664Y|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367433.5_Silent_p.Y714Y|KCNT2_ENST00000609185.1_Silent_p.Y664Y|KCNT2_ENST00000451324.2_Silent_p.Y325Y			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	714					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTTGAATCCATAGGCTTTTG	0.323																																					p.Y714Y		Atlas-SNP	.											.	KCNT2	243	.	0			c.T2142C						.						94.0	98.0	97.0					1																	196295981		2203	4293	6496	SO:0001819	synonymous_variant	343450	exon19			GAATCCATAGGCT	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2142T>C	chr1.hg19:g.196295981A>G		89.0	0.0		78.0	4.0	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	hg19	CCDS1384.1																																																																																			.	.		0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
NFASC	23114	hgsc.bcm.edu	37	1	204978736	204978736	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:204978736T>C	ENST00000401399.1	+	27	3540	c.3341T>C	c.(3340-3342)cTt>cCt	p.L1114P	NFASC_ENST00000339876.6_Missense_Mutation_p.L1114P|NFASC_ENST00000367172.4_Missense_Mutation_p.L1221P|NFASC_ENST00000404076.1_Missense_Mutation_p.L1031P|NFASC_ENST00000360049.4_Missense_Mutation_p.L1043P|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338586.6_Missense_Mutation_p.L1098P|NFASC_ENST00000367170.4_Missense_Mutation_p.L1142P|NFASC_ENST00000404907.1_Missense_Mutation_p.L1048P|NFASC_ENST00000513543.1_Missense_Mutation_p.L1043P|NFASC_ENST00000539706.1_Missense_Mutation_p.L1048P|NFASC_ENST00000338515.6_Missense_Mutation_p.L1131P|NFASC_ENST00000367169.4_Missense_Mutation_p.L945P|NFASC_ENST00000367171.4_Missense_Mutation_p.L1206P			O94856	NFASC_HUMAN	neurofascin	1221	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTCATTGGGCTTATGTGCGCC	0.587																																					p.L1114P		Atlas-SNP	.											.	NFASC	396	.	0			c.T3341C						.						106.0	82.0	90.0					1																	204978736		2203	4300	6503	SO:0001583	missense	23114	exon28			TTGGGCTTATGTG	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3341T>C	chr1.hg19:g.204978736T>C	ENSP00000385637:p.Leu1114Pro	67.0	0.0		60.0	5.0	NM_001005388	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	hg19	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716338	0.89205	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819	T;T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.82803	-0.77;-0.82;-0.53;-0.57;-0.79;-0.71;-0.42;-0.43;-0.47;-0.52;-0.79;-0.42;-0.43;-0.4;-1.65	5.27	5.27	0.74061	.	0.000000	0.44285	D	0.000480	D	0.91918	0.7441	M	0.87547	2.89	0.53005	D	0.999964	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.997;0.996;0.998;0.996;0.999;0.999	D	0.93338	0.6707	10	0.87932	D	0	.	14.856	0.70338	0.0:0.0:0.0:1.0	.	1221;1063;1048;1098;940;1114;1043	O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3	NFASC_HUMAN;.;.;.;.;.;.	P	1221;1206;1142;1131;1114;1098;1063;1048;1043;945;1031;1114;1048;1043;1039;92	ENSP00000356140:L1221P;ENSP00000356139:L1206P;ENSP00000356138:L1142P;ENSP00000342128:L1131P;ENSP00000344786:L1114P;ENSP00000343509:L1098P;ENSP00000438614:L1048P;ENSP00000353154:L1043P;ENSP00000356137:L945P;ENSP00000385676:L1031P;ENSP00000385637:L1114P;ENSP00000384061:L1048P;ENSP00000425908:L1043P;ENSP00000415031:L1039P;ENSP00000416891:L92P	ENSP00000295776:L1063P	L	+	2	0	NFASC	203245359	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.988000	0.88194	1.966000	0.57179	0.533000	0.62120	CTT	.	.		0.587	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
PLXNA2	5362	hgsc.bcm.edu	37	1	208390746	208390746	+	Silent	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:208390746G>A	ENST00000367033.3	-	2	1279	c.522C>T	c.(520-522)cgC>cgT	p.R174R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	174	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACCCTCAGAGCGCACAATCA	0.597																																					p.R174R		Atlas-SNP	.											.	PLXNA2	178	.	0			c.C522T						.						155.0	157.0	156.0					1																	208390746		2203	4300	6503	SO:0001819	synonymous_variant	5362	exon2			CTCAGAGCGCACA	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.522C>T	chr1.hg19:g.208390746G>A		72.0	0.0		94.0	4.0	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	hg19	CCDS31013.1																																																																																			.	.		0.597	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
HHIPL2	79802	hgsc.bcm.edu	37	1	222712068	222712068	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:222712068A>G	ENST00000343410.6	-	5	1557	c.1499T>C	c.(1498-1500)gTc>gCc	p.V500A		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	500					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACCTCCAGTGACTGACTTCCC	0.468																																					p.V500A		Atlas-SNP	.											.	HHIPL2	122	.	0			c.T1499C						.						136.0	111.0	119.0					1																	222712068		2203	4300	6503	SO:0001583	missense	79802	exon5			CCAGTGACTGACT	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1499T>C	chr1.hg19:g.222712068A>G	ENSP00000342118:p.Val500Ala	150.0	0.0		117.0	5.0	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	hg19	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157870	0.78114	.	.	ENSG00000143512	ENST00000343410	T	0.15372	2.43	5.35	5.35	0.76521	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.060724	0.64402	D	0.000005	T	0.43144	0.1234	M	0.74546	2.27	0.54753	D	0.999981	D	0.89917	1.0	D	0.85130	0.997	T	0.42137	-0.9469	10	0.87932	D	0	-29.4619	14.9878	0.71362	1.0:0.0:0.0:0.0	.	500	Q6UWX4	HIPL2_HUMAN	A	500	ENSP00000342118:V500A	ENSP00000342118:V500A	V	-	2	0	HHIPL2	220778691	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	8.704000	0.91351	2.001000	0.58596	0.482000	0.46254	GTC	.	.		0.468	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
NVL	4931	hgsc.bcm.edu	37	1	224475603	224475603	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:224475603G>T	ENST00000281701.6	-	14	1927	c.1668C>A	c.(1666-1668)ttC>ttA	p.F556L	NVL_ENST00000340871.4_Missense_Mutation_p.F367L|NVL_ENST00000469075.1_Missense_Mutation_p.F465L|NVL_ENST00000361463.3_Missense_Mutation_p.F450L|NVL_ENST00000391875.2_Missense_Mutation_p.F450L|NVL_ENST00000482491.1_Missense_Mutation_p.F280L	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	556						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.F556L(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GAGCAACAATGAAATCATTCA	0.478																																					p.F556L		Atlas-SNP	.											NVL,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	NVL	74	.	1	Substitution - Missense(1)	central_nervous_system(1)	c.C1668A						.						101.0	84.0	90.0					1																	224475603		2203	4300	6503	SO:0001583	missense	4931	exon14			AACAATGAAATCA	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1668C>A	chr1.hg19:g.224475603G>T	ENSP00000281701:p.Phe556Leu	163.0	0.0		108.0	26.0	NM_002533	B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	hg19	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.454570|4.454570	0.84209|0.84209	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463|ENST00000469968	D;D;D;D;D;D|.	0.96104|.	-3.9;-3.84;-3.81;-3.7;-3.71;-3.91|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.047995|.	0.85682|.	D|.	0.000000|.	T|T	0.73273|0.73273	0.3566|0.3566	M|M	0.69523|0.69523	2.12|2.12	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	0.985;0.985;1.0|.	P;P;D|.	0.91635|.	0.728;0.831;0.999|.	T|T	0.72554|0.72554	-0.4258|-0.4258	10|5	0.87932|.	D|.	0|.	-14.9811|-14.9811	14.7518|14.7518	0.69530|0.69530	0.0709:0.0:0.9291:0.0|0.0709:0.0:0.9291:0.0	.|.	367;465;556|.	B4DMC4;B4DP98;O15381|.	.;.;NVL_HUMAN|.	L|N	556;450;465;280;367;450|439	ENSP00000281701:F556L;ENSP00000375747:F450L;ENSP00000417826:F465L;ENSP00000417213:F280L;ENSP00000341362:F367L;ENSP00000354779:F450L|.	ENSP00000281701:F556L|.	F|H	-|-	3|1	2|0	NVL|NVL	222542226|222542226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.093000|1.093000	0.30939|0.30939	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	TTC|CAT	.	.		0.478	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
WDR26	80232	hgsc.bcm.edu	37	1	224588733	224588733	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:224588733T>C	ENST00000414423.2	-	9	1531	c.1338A>G	c.(1336-1338)gaA>gaG	p.E446E	WDR26_ENST00000295024.6_Silent_p.E299E|WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'Flank|MIR4742_ENST00000581069.1_RNA	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	446						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TCAAACTGTCTTCATGAGACT	0.443																																					p.E446E		Atlas-SNP	.											.	WDR26	104	.	0			c.A1338G						.						97.0	83.0	88.0					1																	224588733		2203	4300	6503	SO:0001819	synonymous_variant	80232	exon9			ACTGTCTTCATGA	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1338A>G	chr1.hg19:g.224588733T>C		79.0	0.0		78.0	5.0	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	ENST00000414423.2	hg19	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390187	0.25118	.	.	ENSG00000162923	ENST00000480676	.	.	.	5.73	3.39	0.38822	.	.	.	.	.	T	0.59266	0.2181	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52726	-0.8537	4	.	.	.	.	9.5525	0.39319	0.0:0.1475:0.0:0.8525	.	.	.	.	G	80	.	.	R	-	1	2	WDR26	222655356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.794000	0.26958	0.447000	0.26695	0.477000	0.44152	AGA	.	.		0.443	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
SDCCAG8	10806	hgsc.bcm.edu	37	1	243652338	243652338	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:243652338A>G	ENST00000366541.3	+	17	2126	c.2008A>G	c.(2008-2010)Agc>Ggc	p.S670G	AKT3_ENST00000336199.5_Intron|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.S525G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.S627G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	670	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGATAAGCACAGCCAGGCCAC	0.582																																					p.S670G		Atlas-SNP	.											.	SDCCAG8	73	.	0			c.A2008G						.						33.0	35.0	34.0					1																	243652338		2203	4300	6503	SO:0001583	missense	10806	exon17			AAGCACAGCCAGG	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.2008A>G	chr1.hg19:g.243652338A>G	ENSP00000355499:p.Ser670Gly	105.0	0.0		122.0	5.0	NM_006642	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	hg19	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360719	0.41801	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.44083	0.93;0.95;0.95;0.94	5.63	1.79	0.24919	.	0.287075	0.37761	N	0.001957	T	0.16981	0.0408	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.05131	-1.0904	10	0.22109	T	0.4	-2.5105	3.1947	0.06629	0.5307:0.0:0.2075:0.2619	.	627;670	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	G	627;670;525;371	ENSP00000348137:S627G;ENSP00000355499:S670G;ENSP00000341260:S525G;ENSP00000410200:S371G	ENSP00000341260:S525G	S	+	1	0	SDCCAG8	241718961	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.661000	0.37408	0.403000	0.25479	0.528000	0.53228	AGC	.	.		0.582	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	
OSR1	130497	hgsc.bcm.edu	37	2	19552914	19552914	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:19552914A>G	ENST00000272223.2	-	2	997	c.653T>C	c.(652-654)cTg>cCg	p.L218P	OSR1_ENST00000536433.1_Missense_Mutation_p.L218P	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	218					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GTGGTCTCGCAGGTGGTCTTG	0.592																																					p.L218P		Atlas-SNP	.											.	OSR1	29	.	0			c.T653C						.						73.0	75.0	74.0					2																	19552914		2203	4300	6503	SO:0001583	missense	130497	exon2			TCTCGCAGGTGGT	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.653T>C	chr2.hg19:g.19552914A>G	ENSP00000272223:p.Leu218Pro	78.0	0.0		59.0	4.0	NM_145260	B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	hg19	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281002	0.80692	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.53857	0.6;0.6	6.04	6.04	0.98038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.78227	0.4250	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82550	-0.0401	9	.	.	.	-10.3202	16.289	0.82738	1.0:0.0:0.0:0.0	.	218	Q8TAX0	OSR1_HUMAN	P	218	ENSP00000272223:L218P;ENSP00000441801:L218P	.	L	-	2	0	OSR1	19416395	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	9.339000	0.96797	2.330000	0.79161	0.529000	0.55759	CTG	.	.		0.592	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260	
CEBPZ	10153	hgsc.bcm.edu	37	2	37455988	37455988	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:37455988T>C	ENST00000234170.5	-	2	493	c.348A>G	c.(346-348)aaA>aaG	p.K116K	NDUFAF7_ENST00000002125.4_5'Flank|NDUFAF7_ENST00000336237.6_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	116					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTTTACTTCTTTTTTGCTGG	0.299																																					p.K116K		Atlas-SNP	.											.	CEBPZ	68	.	0			c.A348G						.						46.0	47.0	47.0					2																	37455988		2191	4297	6488	SO:0001819	synonymous_variant	10153	exon2			TACTTCTTTTTTG	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.348A>G	chr2.hg19:g.37455988T>C		36.0	0.0		41.0	5.0	NM_005760	Q8NE75	Silent	SNP	ENST00000234170.5	hg19	CCDS1787.1																																																																																			.	.		0.299	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760	
EPAS1	2034	hgsc.bcm.edu	37	2	46611704	46611704	+	Missense_Mutation	SNP	A	A	G	rs371184501		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:46611704A>G	ENST00000263734.3	+	16	3028	c.2518A>G	c.(2518-2520)Acc>Gcc	p.T840A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	840	CTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCCGAACTGACCAGATATGA	0.587																																					p.T840A		Atlas-SNP	.											.	EPAS1	83	.	0			c.A2518G						.	A	ALA/THR	0,4406		0,0,2203	84.0	84.0	84.0		2518	5.0	1.0	2		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPAS1	NM_001430.4	58	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	840/871	46611704	1,13005	2203	4300	6503	SO:0001583	missense	2034	exon16			GAACTGACCAGAT	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2518A>G	chr2.hg19:g.46611704A>G	ENSP00000263734:p.Thr840Ala	100.0	0.0		96.0	4.0	NM_001430	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	hg19	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745470	0.89663	0.0	1.16E-4	ENSG00000116016	ENST00000263734	T	0.64803	-0.12	5.0	5.0	0.66597	HIF-1 alpha, transactivation domain, C-terminal (1);	0.578264	0.18606	N	0.136288	T	0.80732	0.4679	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83578	0.0116	10	0.87932	D	0	.	14.9966	0.71436	1.0:0.0:0.0:0.0	.	840	Q99814	EPAS1_HUMAN	A	840	ENSP00000263734:T840A	ENSP00000263734:T840A	T	+	1	0	EPAS1	46465208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.279000	0.95777	1.975000	0.57531	0.533000	0.62120	ACC	.	.		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
SMYD5	10322	hgsc.bcm.edu	37	2	73452974	73452974	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:73452974A>G	ENST00000389501.4	+	13	1202	c.1157A>G	c.(1156-1158)gAt>gGt	p.D386G	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	386	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCAGAGGCTGATGAACCCAAT	0.542																																					p.D386G		Atlas-SNP	.											.	SMYD5	58	.	0			c.A1157G						.						133.0	130.0	131.0					2																	73452974		2203	4300	6503	SO:0001583	missense	10322	exon13			AGGCTGATGAACC	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1157A>G	chr2.hg19:g.73452974A>G	ENSP00000374152:p.Asp386Gly	83.0	0.0		70.0	4.0	NM_006062	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	hg19	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	A	17.84	3.489039	0.64074	.	.	ENSG00000135632	ENST00000389501	T	0.48522	0.81	4.73	4.73	0.59995	.	0.057123	0.64402	D	0.000003	T	0.46405	0.1391	L	0.59436	1.845	0.53688	D	0.999975	P	0.40970	0.734	B	0.40329	0.326	T	0.48490	-0.9031	10	0.42905	T	0.14	-17.5422	13.4899	0.61388	1.0:0.0:0.0:0.0	.	386	Q6GMV2	SMYD5_HUMAN	G	386	ENSP00000374152:D386G	ENSP00000374152:D386G	D	+	2	0	SMYD5	73306482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.839000	0.75364	2.131000	0.65755	0.533000	0.62120	GAT	.	.		0.542	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
SEMA4F	10505	hgsc.bcm.edu	37	2	74883799	74883799	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:74883799A>G	ENST00000357877.2	+	2	433	c.284A>G	c.(283-285)gAg>gGg	p.E95G	SEMA4F_ENST00000339773.5_Missense_Mutation_p.E95G	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	95	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTCTCAGGGGAGAGACCCCGC	0.502																																					p.E95G		Atlas-SNP	.											.	SEMA4F	89	.	0			c.A284G						.						82.0	78.0	79.0					2																	74883799		2203	4300	6503	SO:0001583	missense	10505	exon2			CAGGGGAGAGACC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.284A>G	chr2.hg19:g.74883799A>G	ENSP00000350547:p.Glu95Gly	109.0	0.0		88.0	4.0	NM_001271662	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	hg19	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031987	0.35893	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	4.9	2.44	0.29823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.568065	0.17331	N	0.178121	T	0.05868	0.0153	N	0.04724	-0.175	0.21256	N	0.999748	B;B;B;B	0.12630	0.006;0.005;0.001;0.0	B;B;B;B	0.11329	0.006;0.005;0.002;0.002	T	0.28267	-1.0049	10	0.87932	D	0	.	3.7857	0.08700	0.659:0.2249:0.1161:0.0	.	95;95;95;95	B7Z931;C9K0A1;O95754-2;O95754	.;.;.;SEM4F_HUMAN	G	95	ENSP00000350547:E95G;ENSP00000342675:E95G;ENSP00000407698:E95G;ENSP00000409141:E95G	ENSP00000342675:E95G	E	+	2	0	SEMA4F	74737307	0.998000	0.40836	0.860000	0.33809	0.981000	0.71138	1.100000	0.31025	0.872000	0.35775	0.529000	0.55759	GAG	.	.		0.502	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
KANSL3	55683	hgsc.bcm.edu	37	2	97268497	97268497	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:97268497G>A	ENST00000431828.1	-	18	2328	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Missense_Mutation_p.A664V|KANSL3_ENST00000440133.1_Missense_Mutation_p.A571V			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	777	Ser-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CACCTGTGGGGCTGGTCCTGG	0.597																																					p.A751V		Atlas-SNP	.											.	.	.	.	0			c.C2252T						.						84.0	90.0	88.0					2																	97268497		2015	4195	6210	SO:0001583	missense	55683	exon18			TGTGGGGCTGGTC	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2252C>T	chr2.hg19:g.97268497G>A	ENSP00000396749:p.Ala751Val	113.0	0.0		89.0	4.0	NM_001115016	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	hg19	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350346	0.24512	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.45276	0.9;0.9	5.95	2.22	0.28083	.	0.729315	0.13511	N	0.382523	T	0.22781	0.0550	N	0.08118	0	0.22819	N	0.998691	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001	T	0.19877	-1.0292	10	0.59425	D	0.04	.	8.9033	0.35507	0.303:0.0:0.697:0.0	.	545;777;751;662;637	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	V	664;637;751;571;545	ENSP00000396749:A751V;ENSP00000406207:A571V	ENSP00000346144:A664V	A	-	2	0	KIAA1310	96632224	0.820000	0.29190	0.229000	0.23960	0.620000	0.37586	3.428000	0.52792	0.432000	0.26286	-0.793000	0.03317	GCC	.	.		0.597	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	
BUB1	699	hgsc.bcm.edu	37	2	111408295	111408295	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:111408295A>G	ENST00000302759.6	-	18	2149	c.2031T>C	c.(2029-2031)cgT>cgC	p.R677R	BUB1_ENST00000535254.1_Silent_p.R657R|BUB1_ENST00000409311.1_Silent_p.R677R	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	677					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GCTGGCTCAGACGAAGTAAGG	0.498																																					p.R677R		Atlas-SNP	.											.	BUB1	91	.	0			c.T2031C						.						84.0	74.0	77.0					2																	111408295		2203	4300	6503	SO:0001819	synonymous_variant	699	exon18			GCTCAGACGAAGT	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2031T>C	chr2.hg19:g.111408295A>G		110.0	0.0		101.0	5.0	NM_004336	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	hg19	CCDS33273.1																																																																																			.	.		0.498	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
MGAT5	4249	hgsc.bcm.edu	37	2	135170467	135170467	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:135170467G>A	ENST00000409645.1	+	13	1810	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	MGAT5_ENST00000281923.2_Missense_Mutation_p.E520K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	520					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTTCCCTTACGAGGGCCCAGC	0.493																																					p.E520K		Atlas-SNP	.											.	MGAT5	84	.	0			c.G1558A						.						168.0	151.0	157.0					2																	135170467		2203	4300	6503	SO:0001583	missense	4249	exon12			CCTTACGAGGGCC	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1558G>A	chr2.hg19:g.135170467G>A	ENSP00000386377:p.Glu520Lys	250.0	0.0		231.0	28.0	NM_002410	D3DP70	Missense_Mutation	SNP	ENST00000409645.1	hg19	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981741	0.93044	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.84896	0.0839	9	0.72032	D	0.01	-27.3571	19.8251	0.96614	0.0:0.0:1.0:0.0	.	520	Q09328	MGT5A_HUMAN	K	520	.	ENSP00000281923:E520K	E	+	1	0	MGAT5	134886937	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	9.785000	0.99042	2.685000	0.91497	0.655000	0.94253	GAG	.	.		0.493	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410	
BBS5	129880	hgsc.bcm.edu	37	2	170349443	170349443	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:170349443A>G	ENST00000295240.3	+	6	822	c.446A>G	c.(445-447)aAc>aGc	p.N149S	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.N149S|BBS5_ENST00000392663.2_Missense_Mutation_p.N149S|BBS5_ENST00000554017.1_Missense_Mutation_p.N149S	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	149					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTAATTCAGAACAAGCAACTA	0.313									Bardet-Biedl syndrome																												p.N149S		Atlas-SNP	.											.	BBS5	27	.	0			c.A446G						.						92.0	90.0	91.0					2																	170349443		2203	4298	6501	SO:0001583	missense	129880	exon6	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	TTCAGAACAAGCA	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.446A>G	chr2.hg19:g.170349443A>G	ENSP00000295240:p.Asn149Ser	91.0	0.0		89.0	4.0	NM_152384	D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	hg19	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157685	0.78114	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.74002	1.4;1.4;-0.8;1.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	L	0.45698	1.435	0.80722	D	1	P;B;B	0.50066	0.931;0.29;0.124	P;B;B	0.54270	0.747;0.082;0.133	T	0.74355	-0.3692	10	0.24483	T	0.36	-14.9331	16.099	0.81152	1.0:0.0:0.0:0.0	.	149;149;149	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	S	149	ENSP00000295240:N149S;ENSP00000452313:N149S;ENSP00000376431:N149S;ENSP00000424363:N149S	ENSP00000295240:N149S	N	+	2	0	BBS5;RP11-724O16.1	170057689	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.201000	0.95017	2.210000	0.71456	0.482000	0.46254	AAC	.	.		0.313	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384	
HOXD4	3233	hgsc.bcm.edu	37	2	177017387	177017387	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:177017387C>T	ENST00000306324.3	+	2	897	c.485C>T	c.(484-486)aCc>aTc	p.T162I	HOXD3_ENST00000468418.3_Intron|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	162					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACGGCCTACACCCGGCAGCAA	0.557																																					p.T162I		Atlas-SNP	.											.,1	HOXD4	32	.	0			c.C485T						.						42.0	47.0	46.0					2																	177017387		2203	4300	6503	SO:0001583	missense	3233	exon2			CCTACACCCGGCA		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.485C>T	chr2.hg19:g.177017387C>T	ENSP00000302548:p.Thr162Ile	54.0	0.0		49.0	3.0	NM_014621	B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	hg19	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172606	0.78452	.	.	ENSG00000170166	ENST00000306324	D	0.97016	-4.21	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99056	1.0829	10	0.87932	D	0	.	19.1342	0.93420	0.0:1.0:0.0:0.0	.	162	P09016	HXD4_HUMAN	I	162	ENSP00000302548:T162I	ENSP00000302548:T162I	T	+	2	0	HOXD4	176725633	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.516000	0.84829	0.643000	0.83706	ACC	.	.		0.557	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2		
TTN	7273	hgsc.bcm.edu	37	2	179506015	179506015	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:179506015T>C	ENST00000591111.1	-	170	35887	c.35663A>G	c.(35662-35664)gAa>gGa	p.E11888G	TTN_ENST00000589042.1_Missense_Mutation_p.E13529G|TTN_ENST00000342175.6_Missense_Mutation_p.E4656G|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10961G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4589G|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4464G			Q8WZ42	TITIN_HUMAN	titin	11888	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTTAGGTTCTTCTTCTTC	0.294																																					p.E13529G		Atlas-SNP	.											.	TTN	18412	.	0			c.A40586G						.						101.0	88.0	92.0					2																	179506015		1754	3994	5748	SO:0001583	missense	7273	exon220			TTAGGTTCTTCTT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35663A>G	chr2.hg19:g.179506015T>C	ENSP00000465570:p.Glu11888Gly	82.0	0.0		67.0	4.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.02	2.708096	0.48412	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766	T;T;T;T	0.69435	-0.4;0.06;0.04;0.04	5.51	5.51	0.81932	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.74230	0.3689	L	0.43923	1.385	0.33545	D	0.595423	P;P;P;P;D	0.76494	0.849;0.849;0.849;0.849;0.999	P;P;P;P;D	0.71414	0.478;0.478;0.478;0.478;0.973	T	0.81675	-0.0825	9	0.87932	D	0	.	11.2668	0.49114	0.1365:0.0:0.0:0.8635	.	4464;4589;4656;11888;10655	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	G	10961;4464;4656;4589;4464;850	ENSP00000343764:E10961G;ENSP00000434586:E4464G;ENSP00000340554:E4656G;ENSP00000352154:E4589G	ENSP00000340554:E4656G	E	-	2	0	TTN	179214260	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.635000	0.54309	2.105000	0.64084	0.482000	0.46254	GAA	.	.		0.294	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ITGA4	3676	hgsc.bcm.edu	37	2	182358065	182358065	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:182358065A>G	ENST00000397033.2	+	11	1597	c.1167A>G	c.(1165-1167)ggA>ggG	p.G389G		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	389					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTGCTATCGGAGCTCCACAAG	0.348																																					p.G389G		Atlas-SNP	.											.	ITGA4	142	.	0			c.A1167G						.						104.0	96.0	98.0					2																	182358065		1853	4099	5952	SO:0001819	synonymous_variant	3676	exon11			TATCGGAGCTCCA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1167A>G	chr2.hg19:g.182358065A>G		76.0	0.0		86.0	4.0	NM_000885	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	hg19	CCDS42788.1																																																																																			.	.		0.348	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
GTF3C3	9330	hgsc.bcm.edu	37	2	197634689	197634689	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:197634689G>A	ENST00000263956.3	-	16	2424	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	779					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GATGCCATATGAATAAAGGTT	0.388																																					p.H779Y		Atlas-SNP	.											.	GTF3C3	96	.	0			c.C2335T						.						100.0	96.0	97.0					2																	197634689		2203	4300	6503	SO:0001583	missense	9330	exon16			CCATATGAATAAA	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2335C>T	chr2.hg19:g.197634689G>A	ENSP00000263956:p.His779Tyr	99.0	0.0		90.0	17.0	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	hg19	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069214	0.76301	.	.	ENSG00000119041	ENST00000263956	T	0.28666	1.6	5.27	4.4	0.53042	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.63337	-0.6660	10	0.48119	T	0.1	-23.271	14.0128	0.64507	0.0725:0.0:0.9275:0.0	.	779	Q9Y5Q9	TF3C3_HUMAN	Y	779	ENSP00000263956:H779Y	ENSP00000263956:H779Y	H	-	1	0	GTF3C3	197342934	1.000000	0.71417	0.707000	0.30419	0.644000	0.38419	9.081000	0.94049	1.451000	0.47736	0.563000	0.77884	CAT	.	.		0.388	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
CPS1	1373	hgsc.bcm.edu	37	2	211476885	211476885	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:211476885T>C	ENST00000233072.5	+	20	2632	c.2436T>C	c.(2434-2436)gcT>gcC	p.A812A	CPS1_ENST00000430249.2_Silent_p.A818A|CPS1_ENST00000451903.2_Silent_p.A361A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	812					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TCCAGAAAGCTTTACGGATGT	0.388																																					p.A818A		Atlas-SNP	.											.	CPS1	485	.	0			c.T2454C						.						148.0	148.0	148.0					2																	211476885		2203	4300	6503	SO:0001819	synonymous_variant	1373	exon21			GAAAGCTTTACGG	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2436T>C	chr2.hg19:g.211476885T>C		81.0	0.0		97.0	4.0	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	hg19	CCDS2393.1																																																																																			.	.		0.388	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
ERBB4	2066	hgsc.bcm.edu	37	2	212295715	212295715	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:212295715T>C	ENST00000342788.4	-	21	2908	c.2598A>G	c.(2596-2598)agA>agG	p.R866R	ERBB4_ENST00000402597.1_Silent_p.R856R|ERBB4_ENST00000436443.1_Silent_p.R866R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTTCCAAGAGTCTGGCTAGCC	0.403										TSP Lung(8;0.080)																											p.R866R		Atlas-SNP	.											.	ERBB4	480	.	0			c.A2598G						.						141.0	135.0	137.0					2																	212295715		2203	4300	6503	SO:0001819	synonymous_variant	2066	exon21			CAAGAGTCTGGCT	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2598A>G	chr2.hg19:g.212295715T>C		134.0	0.0		115.0	5.0	NM_001042599	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	hg19	CCDS2394.1																																																																																			.	.		0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
TNS1	7145	hgsc.bcm.edu	37	2	218713178	218713178	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:218713178A>G	ENST00000171887.4	-	17	2139	c.1687T>C	c.(1687-1689)Tct>Cct	p.S563P	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.S563P|TNS1_ENST00000430930.1_Missense_Mutation_p.S563P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	563					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CGGCTGGCAGACTCGTAGGGG	0.667																																					p.S563P		Atlas-SNP	.											.	TNS1	251	.	0			c.T1687C						.						33.0	38.0	36.0					2																	218713178		2203	4299	6502	SO:0001583	missense	7145	exon17			TGGCAGACTCGTA	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1687T>C	chr2.hg19:g.218713178A>G	ENSP00000171887:p.Ser563Pro	114.0	0.0		125.0	5.0	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	8.614	0.889925	0.17540	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.94092	-2.82;-2.82;-2.82;-3.35	4.79	-9.58	0.00559	.	1.246840	0.05476	N	0.553969	T	0.71117	0.3302	N	0.01576	-0.805	0.36093	D	0.843619	B;B;B;B;B	0.34226	0.0;0.443;0.357;0.167;0.167	B;B;B;B;B	0.28784	0.0;0.094;0.094;0.092;0.063	T	0.63350	-0.6657	10	0.21540	T	0.41	.	1.0618	0.01602	0.1773:0.2392:0.3263:0.2571	.	563;617;563;563;563	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	P	563;563;563;688	ENSP00000171887:S563P;ENSP00000408724:S563P;ENSP00000406016:S563P;ENSP00000405460:S688P	ENSP00000171887:S563P	S	-	1	0	TNS1	218421423	0.310000	0.24527	0.288000	0.24862	0.236000	0.25371	-0.491000	0.06474	-1.320000	0.02283	-0.366000	0.07423	TCT	.	.		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
SPEG	10290	hgsc.bcm.edu	37	2	220333960	220333960	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr2:220333960C>T	ENST00000312358.7	+	13	3706	c.3574C>T	c.(3574-3576)Cgg>Tgg	p.R1192W	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1192	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGACTTCCTGCGGCCACTGCA	0.622																																					p.R1192W		Atlas-SNP	.											.	SPEG	272	.	0			c.C3574T						.						33.0	42.0	39.0					2																	220333960		2149	4262	6411	SO:0001583	missense	10290	exon13			TTCCTGCGGCCAC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3574C>T	chr2.hg19:g.220333960C>T	ENSP00000311684:p.Arg1192Trp	174.0	0.0		169.0	58.0	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	hg19	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783430	0.49891	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.68624	-0.34	4.94	3.99	0.46301	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37955	N	0.001873	T	0.81054	0.4743	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.83667	0.0164	10	0.72032	D	0.01	.	15.1123	0.72368	0.1788:0.8211:0.0:0.0	.	1192	Q15772	SPEG_HUMAN	W	1192	ENSP00000311684:R1192W	ENSP00000265327:R1192W	R	+	1	2	SPEG	220042204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.476000	0.35420	2.573000	0.86826	0.655000	0.94253	CGG	.	.		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
SLC6A1	6529	hgsc.bcm.edu	37	3	11064104	11064104	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:11064104T>C	ENST00000287766.4	+	7	1085	c.664T>C	c.(664-666)Tgg>Cgg	p.W222R	SLC6A1_ENST00000536032.1_Missense_Mutation_p.W44R	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	222					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GGCCATCGCCTGGATCCTTGT	0.557																																					p.W222R		Atlas-SNP	.											.	SLC6A1	88	.	0			c.T664C						.						97.0	85.0	89.0					3																	11064104		2203	4300	6503	SO:0001583	missense	6529	exon7			ATCGCCTGGATCC		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.664T>C	chr3.hg19:g.11064104T>C	ENSP00000287766:p.Trp222Arg	133.0	0.0		143.0	6.0	NM_003042	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	hg19	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641613	0.87859	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.78003	-1.14;-1.14	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000002	D	0.93357	0.7882	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96092	0.9062	10	0.87932	D	0	.	14.9138	0.70778	0.0:0.0:0.0:1.0	.	222	P30531	SC6A1_HUMAN	R	222;44	ENSP00000287766:W222R;ENSP00000445171:W44R	ENSP00000287766:W222R	W	+	1	0	SLC6A1	11039104	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.757000	0.85209	2.107000	0.64212	0.459000	0.35465	TGG	.	.		0.557	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	
NKIRAS1	28512	hgsc.bcm.edu	37	3	23942421	23942421	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:23942421G>C	ENST00000443659.2	-	3	991	c.214C>G	c.(214-216)Cca>Gca	p.P72A	NKIRAS1_ENST00000388759.3_Missense_Mutation_p.P72A|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.P72A|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.P72A|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.P72A|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.P72A|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.P72A|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.P72A			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	72	Interactions with NFKBIA and NFKBIB.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TAATGCTTTGGCAGCTCCACG	0.408																																					p.P72A		Atlas-SNP	.											.	NKIRAS1	18	.	0			c.C214G						.						162.0	157.0	159.0					3																	23942421		2203	4300	6503	SO:0001583	missense	28512	exon4			GCTTTGGCAGCTC	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.214C>G	chr3.hg19:g.23942421G>C	ENSP00000393785:p.Pro72Ala	130.0	0.0		155.0	19.0	NM_020345	Q96K18	Missense_Mutation	SNP	ENST00000443659.2	hg19	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723394	0.89298	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.56	4.69	0.59074	Small GTP-binding protein domain (1);	0.052646	0.85682	D	0.000000	T	0.79678	0.4487	L	0.52266	1.64	0.80722	D	1	P;P	0.48503	0.911;0.877	P;P	0.50617	0.646;0.627	T	0.81645	-0.0839	10	0.72032	D	0.01	-14.2805	14.1746	0.65532	0.0729:0.0:0.9271:0.0	.	72;72	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	A	72	ENSP00000373411:P72A;ENSP00000393785:P72A;ENSP00000392307:P72A;ENSP00000400385:P72A;ENSP00000406543:P72A;ENSP00000396063:P72A;ENSP00000415225:P72A;ENSP00000394214:P72A	ENSP00000373411:P72A	P	-	1	0	NKIRAS1	23917425	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.771000	0.98977	1.354000	0.45846	0.491000	0.48974	CCA	.	.		0.408	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345	
TOPAZ1	375337	hgsc.bcm.edu	37	3	44362570	44362570	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:44362570T>C	ENST00000309765.4	+	17	4526	c.4358T>C	c.(4357-4359)gTg>gCg	p.V1453A		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	1453						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										AGACTGGATGTGCTTAATCGA	0.353																																					p.V1453A		Atlas-SNP	.											C3orf77_ENST00000309765,NS,carcinoma,0,1	.	.	.	0			c.T4358C						.						159.0	137.0	144.0					3																	44362570		692	1591	2283	SO:0001583	missense	375337	exon17			TGGATGTGCTTAA	AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.4358T>C	chr3.hg19:g.44362570T>C	ENSP00000310303:p.Val1453Ala	76.0	0.0		71.0	3.0	NM_001145030		Missense_Mutation	SNP	ENST00000309765.4	hg19	CCDS46809.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683361	0.88542	.	.	ENSG00000173769	ENST00000309765	T	0.58797	0.31	5.93	5.93	0.95920	.	.	.	.	.	T	0.58736	0.2143	L	0.27053	0.805	0.35375	D	0.789354	D	0.55385	0.971	P	0.53224	0.721	T	0.70487	-0.4858	9	0.72032	D	0.01	-5.6976	16.3756	0.83387	0.0:0.0:0.0:1.0	.	1453	Q8N9V7	CC077_HUMAN	A	1453	ENSP00000310303:V1453A	ENSP00000310303:V1453A	V	+	2	0	C3orf77	44337574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.270000	0.75569	0.460000	0.39030	GTG	.	.		0.353	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343247.1	NM_001145030	
LTF	4057	hgsc.bcm.edu	37	3	46501284	46501284	+	Silent	SNP	C	C	T	rs55665884|rs76787706|rs10662431	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:46501284C>T	ENST00000231751.4	-	2	364	c.69G>A	c.(67-69)agG>agA	p.R23R	LTF_ENST00000426532.2_5'UTR|LTF_ENST00000417439.1_Silent_p.R23R	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	23	Bactericidal and antifungal activity.|Critical for glycosaminoglycan, lipid A, lysozyme and DNA binding.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		ACTGAACACTCCTCCTACGGC	0.562																																					p.R23R		Atlas-SNP	.											.	LTF	98	.	0			c.G69A						.						82.0	66.0	72.0					3																	46501284		2203	4300	6503	SO:0001819	synonymous_variant	4057	exon2			AACACTCCTCCTA		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.69G>A	chr3.hg19:g.46501284C>T		181.0	0.0		145.0	7.0	NM_002343	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	ENST00000231751.4	hg19	CCDS33747.1																																																																																			.	.		0.562	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	
APEH	327	hgsc.bcm.edu	37	3	49713569	49713569	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:49713569T>C	ENST00000296456.5	+	6	923	c.523T>C	c.(523-525)Tcc>Ccc	p.S175P	APEH_ENST00000438011.1_Missense_Mutation_p.S175P	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	175					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAAGGCCGAGTCCTTCTTTCA	0.572																																					p.S175P		Atlas-SNP	.											.	APEH	45	.	0			c.T523C						.						61.0	62.0	62.0					3																	49713569		2203	4300	6503	SO:0001583	missense	327	exon6			GCCGAGTCCTTCT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.523T>C	chr3.hg19:g.49713569T>C	ENSP00000296456:p.Ser175Pro	86.0	0.0		91.0	6.0	NM_001640	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	hg19	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965575	0.34659	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T	0.44482	0.92;0.99;0.92	4.9	4.9	0.64082	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.054422	0.85682	D	0.000000	T	0.28532	0.0706	N	0.20881	0.62	0.36862	D	0.888476	B;B	0.12013	0.001;0.005	B;B	0.09377	0.002;0.004	T	0.18999	-1.0319	10	0.29301	T	0.29	-4.2863	11.798	0.52110	0.0:0.0:0.1463:0.8537	.	175;175	C9JIF9;P13798	.;ACPH_HUMAN	P	175;74;100;175;172	ENSP00000296456:S175P;ENSP00000402365:S100P;ENSP00000415862:S175P	ENSP00000296456:S175P	S	+	1	0	APEH	49688573	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.984000	0.63838	1.839000	0.53478	0.402000	0.26972	TCC	.	.		0.572	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		
PARP3	10039	hgsc.bcm.edu	37	3	51978115	51978115	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:51978115A>G	ENST00000417220.2	+	4	682	c.194A>G	c.(193-195)gAc>gGc	p.D65G	RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000431474.1_Missense_Mutation_p.D65G|PARP3_ENST00000398755.3_Missense_Mutation_p.D72G			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	65					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGTATGAGGACTACAACTGC	0.587																																					p.D72G		Atlas-SNP	.											.	PARP3	90	.	0			c.A215G						.						120.0	128.0	126.0					3																	51978115		2040	4193	6233	SO:0001583	missense	10039	exon3			ATGAGGACTACAA	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.194A>G	chr3.hg19:g.51978115A>G	ENSP00000395951:p.Asp65Gly	107.0	0.0		97.0	6.0	NM_001003931	Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	hg19	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913576	0.52439	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.87	4.87	0.63330	WGR domain (2);	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	M	0.80332	2.49	0.54753	D	0.999983	P;P	0.42409	0.738;0.779	P;P	0.58721	0.758;0.844	T	0.30179	-0.9987	10	0.35671	T	0.21	-29.0442	11.7039	0.51587	0.8525:0.1475:0.0:0.0	.	72;65	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	G	65;65;72;65	ENSP00000395951:D65G;ENSP00000401511:D65G;ENSP00000381740:D72G;ENSP00000417625:D65G	ENSP00000381740:D72G	D	+	2	0	PARP3	51953155	1.000000	0.71417	0.995000	0.50966	0.237000	0.25408	6.146000	0.71777	1.813000	0.52934	0.533000	0.62120	GAC	.	.		0.587	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4	
DNAH1	25981	hgsc.bcm.edu	37	3	52395766	52395766	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:52395766A>G	ENST00000420323.2	+	30	5225	c.4964A>G	c.(4963-4965)aAg>aGg	p.K1655R	DNAH1_ENST00000466628.1_Intron	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1655	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCATCCAGAAGGCGCAGCAG	0.627																																					p.K1655R		Atlas-SNP	.											.	DNAH1	534	.	0			c.A4964G						.						28.0	33.0	32.0					3																	52395766		2185	4290	6475	SO:0001583	missense	25981	exon30			TCCAGAAGGCGCA	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4964A>G	chr3.hg19:g.52395766A>G	ENSP00000401514:p.Lys1655Arg	173.0	0.0		173.0	7.0	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011930	0.54468	.	.	ENSG00000114841	ENST00000420323	T	0.09538	2.97	5.1	5.1	0.69264	.	0.000000	0.52532	D	0.000068	T	0.03871	0.0109	N	0.00750	-1.22	0.49389	D	0.99978	B	0.33777	0.425	B	0.36289	0.221	T	0.50524	-0.8818	10	0.09338	T	0.73	.	14.8904	0.70604	1.0:0.0:0.0:0.0	.	1655	C9JXH6	.	R	1655	ENSP00000401514:K1655R	ENSP00000401514:K1655R	K	+	2	0	DNAH1	52370806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.089000	0.64492	1.922000	0.55676	0.460000	0.39030	AAG	.	.		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
KIAA1407	57577	hgsc.bcm.edu	37	3	113684024	113684024	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:113684024T>C	ENST00000295878.3	-	17	2935	c.2789A>G	c.(2788-2790)aAg>aGg	p.K930R		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	930										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CAGACTTGTCTTACTCAAGGA	0.448																																					p.K930R		Atlas-SNP	.											.	KIAA1407	80	.	0			c.A2789G						.						124.0	125.0	124.0					3																	113684024		2203	4300	6503	SO:0001583	missense	57577	exon17			CTTGTCTTACTCA	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2789A>G	chr3.hg19:g.113684024T>C	ENSP00000295878:p.Lys930Arg	116.0	0.0		86.0	4.0	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	hg19	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150448	0.57151	.	.	ENSG00000163617	ENST00000295878	T	0.32753	1.44	3.55	-2.67	0.06059	.	1.993840	0.02806	N	0.123696	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.19943	-1.0290	10	0.87932	D	0	.	0.62	0.00776	0.3691:0.1115:0.1732:0.3462	.	930	Q8NCU4	K1407_HUMAN	R	930	ENSP00000295878:K930R	ENSP00000295878:K930R	K	-	2	0	KIAA1407	115166714	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-0.231000	0.09069	-0.620000	0.05641	0.528000	0.53228	AAG	.	.		0.448	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
STXBP5L	9515	hgsc.bcm.edu	37	3	120941904	120941904	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:120941904A>G	ENST00000273666.6	+	11	1282	c.1011A>G	c.(1009-1011)agA>agG	p.R337R	STXBP5L_ENST00000471454.1_Silent_p.R337R|STXBP5L_ENST00000497029.1_Silent_p.R337R|STXBP5L_ENST00000472879.1_Silent_p.R337R|STXBP5L_ENST00000492541.1_Silent_p.R337R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	337					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTGTAGAAGACCAAGTTTAA	0.363																																					p.R337R		Atlas-SNP	.											.	STXBP5L	159	.	0			c.A1011G						.						160.0	151.0	154.0					3																	120941904		1878	4102	5980	SO:0001819	synonymous_variant	9515	exon11			TAGAAGACCAAGT	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1011A>G	chr3.hg19:g.120941904A>G		132.0	0.0		114.0	5.0	NM_014980	Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	hg19	CCDS43137.1																																																																																			.	.		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
H1FX	8971	hgsc.bcm.edu	37	3	129034735	129034735	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:129034735T>C	ENST00000333762.4	-	1	385	c.11A>G	c.(10-12)gAg>gGg	p.E4G	H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	4					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						CTCCTCGAGCTCCACGGACAT	0.701																																					p.E4G		Atlas-SNP	.											.	H1FX	13	.	0			c.A11G						.						8.0	8.0	8.0					3																	129034735		2192	4291	6483	SO:0001583	missense	8971	exon1			TCGAGCTCCACGG	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.11A>G	chr3.hg19:g.129034735T>C	ENSP00000329662:p.Glu4Gly	77.0	0.0		55.0	5.0	NM_006026		Missense_Mutation	SNP	ENST00000333762.4	hg19	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610775	0.28712	.	.	ENSG00000184897	ENST00000333762	T	0.07444	3.19	3.42	3.42	0.39159	.	1.272630	0.05746	U	0.602174	T	0.09291	0.0229	N	0.14661	0.345	0.29847	N	0.82872	D	0.58268	0.982	P	0.49421	0.61	T	0.26155	-1.0111	10	0.49607	T	0.09	-28.5182	8.263	0.31797	0.0:0.0:0.0:1.0	.	4	Q92522	H1X_HUMAN	G	4	ENSP00000329662:E4G	ENSP00000329662:E4G	E	-	2	0	H1FX	130517425	0.995000	0.38212	0.996000	0.52242	0.127000	0.20565	1.174000	0.31932	1.190000	0.43042	0.459000	0.35465	GAG	.	.		0.701	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2	NM_006026	
RASA2	5922	hgsc.bcm.edu	37	3	141305546	141305546	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:141305546C>T	ENST00000452898.1	+	19	1920	c.1885C>T	c.(1885-1887)Cga>Tga	p.R629*	RASA2_ENST00000286364.3_Nonsense_Mutation_p.R629*|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	629	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTTTAAGAAACGATGGTTCTG	0.373																																					p.R629X		Atlas-SNP	.											.	RASA2	169	.	0			c.C1885T						.						54.0	58.0	57.0					3																	141305546		2203	4300	6503	SO:0001587	stop_gained	5922	exon19			AAGAAACGATGGT	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1885C>T	chr3.hg19:g.141305546C>T	ENSP00000391677:p.Arg629*	149.0	0.0		150.0	7.0	NM_006506	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Nonsense_Mutation	SNP	ENST00000452898.1	hg19		.	.	.	.	.	.	.	.	.	.	C	41	8.987938	0.99027	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5786	0.95455	0.0:1.0:0.0:0.0	.	.	.	.	X	629;629;221	.	ENSP00000286364:R629X	R	+	1	2	RASA2	142788236	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.697000	0.47060	2.711000	0.92665	0.655000	0.94253	CGA	.	.		0.373	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506	
NMD3	51068	hgsc.bcm.edu	37	3	160968077	160968077	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:160968077A>G	ENST00000460469.1	+	14	1799	c.1344A>G	c.(1342-1344)gaA>gaG	p.E448E	NMD3_ENST00000351193.2_Silent_p.E448E|NMD3_ENST00000472947.1_Silent_p.E448E			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	448	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ATCTTGAAGAAGATGAGGCAA	0.279																																					p.E448E		Atlas-SNP	.											.	NMD3	49	.	0			c.A1344G						.						85.0	87.0	86.0					3																	160968077		2203	4296	6499	SO:0001819	synonymous_variant	51068	exon15			TGAAGAAGATGAG	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1344A>G	chr3.hg19:g.160968077A>G		69.0	0.0		69.0	4.0	NM_015938	D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	hg19	CCDS3194.1																																																																																			.	.		0.279	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	
SLITRK3	22865	hgsc.bcm.edu	37	3	164907099	164907099	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:164907099T>C	ENST00000475390.1	-	2	1963	c.1520A>G	c.(1519-1521)aAg>aGg	p.K507R	SLITRK3_ENST00000241274.3_Missense_Mutation_p.K507R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	507					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAATAGCAGCTTCAAGTTGGG	0.512										HNSCC(40;0.11)																											p.K507R		Atlas-SNP	.											.	SLITRK3	263	.	0			c.A1520G						.						65.0	69.0	68.0					3																	164907099		2203	4300	6503	SO:0001583	missense	22865	exon2			AGCAGCTTCAAGT	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1520A>G	chr3.hg19:g.164907099T>C	ENSP00000420091:p.Lys507Arg	89.0	0.0		88.0	4.0	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	hg19	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.901069	0.33535	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52295	0.67;0.67	5.18	5.18	0.71444	.	0.000000	0.39687	N	0.001295	T	0.35970	0.0950	N	0.20445	0.575	0.47698	D	0.999499	B	0.29481	0.245	B	0.31946	0.138	T	0.18745	-1.0327	10	0.35671	T	0.21	-14.8971	15.1424	0.72620	0.0:0.0:0.0:1.0	.	507	O94933	SLIK3_HUMAN	R	507	ENSP00000420091:K507R;ENSP00000241274:K507R	ENSP00000241274:K507R	K	-	2	0	SLITRK3	166389793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.297000	0.77311	0.533000	0.62120	AAG	.	.		0.512	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
YEATS2	55689	hgsc.bcm.edu	37	3	183472104	183472104	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:183472104A>G	ENST00000305135.5	+	11	1536	c.1341A>G	c.(1339-1341)tcA>tcG	p.S447S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	447					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCCTGAGTCACCTGGAAAAT	0.438																																					p.S447S		Atlas-SNP	.											.	YEATS2	111	.	0			c.A1341G						.						101.0	95.0	97.0					3																	183472104		1909	4121	6030	SO:0001819	synonymous_variant	55689	exon11			TGAGTCACCTGGA	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1341A>G	chr3.hg19:g.183472104A>G		76.0	0.0		81.0	4.0	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	hg19	CCDS43175.1																																																																																			.	.		0.438	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	
TBCCD1	55171	hgsc.bcm.edu	37	3	186282013	186282013	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr3:186282013T>C	ENST00000424280.1	-	2	585	c.106A>G	c.(106-108)Ata>Gta	p.I36V	TBCCD1_ENST00000338733.5_Missense_Mutation_p.I36V|TBCCD1_ENST00000446782.1_Intron	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	36					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TAGGTGGATATCTTCCTGAGA	0.532																																					p.I36V		Atlas-SNP	.											.	TBCCD1	42	.	0			c.A106G						.						76.0	72.0	73.0					3																	186282013		2203	4300	6503	SO:0001583	missense	55171	exon2			TGGATATCTTCCT	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.106A>G	chr3.hg19:g.186282013T>C	ENSP00000411253:p.Ile36Val	92.0	0.0		78.0	4.0	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	hg19	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612740	0.28712	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000413695;ENST00000430560	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.82	2.12	0.27331	.	0.077706	0.85682	N	0.000000	T	0.50463	0.1617	N	0.19112	0.55	0.30410	N	0.779198	B	0.09022	0.002	B	0.09377	0.004	T	0.43212	-0.9405	10	0.30854	T	0.27	-10.3422	8.1772	0.31289	0.0:0.2378:0.0:0.7622	.	36	Q9NVR7	TBCC1_HUMAN	V	36	ENSP00000411253:I36V;ENSP00000341652:I36V;ENSP00000391109:I36V;ENSP00000407506:I36V	ENSP00000341652:I36V	I	-	1	0	TBCCD1	187764707	1.000000	0.71417	0.969000	0.41365	0.975000	0.68041	3.067000	0.50010	0.441000	0.26529	0.459000	0.35465	ATA	.	.		0.532	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138	
GAK	2580	hgsc.bcm.edu	37	4	864601	864601	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:864601T>C	ENST00000314167.4	-	19	2256	c.2146A>G	c.(2146-2148)Agc>Ggc	p.S716G	GAK_ENST00000511163.1_Missense_Mutation_p.S637G|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	716					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCTTCCCGGCTCGGCCTGTCC	0.542																																					p.S716G		Atlas-SNP	.											.	GAK	104	.	0			c.A2146G						.						70.0	73.0	72.0					4																	864601		2203	4300	6503	SO:0001583	missense	2580	exon19			CCCGGCTCGGCCT	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2146A>G	chr4.hg19:g.864601T>C	ENSP00000314499:p.Ser716Gly	112.0	0.0		92.0	4.0	NM_005255	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	hg19	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	T	6.947	0.544531	0.13312	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.79033	-0.77;-1.23	5.6	0.209	0.15226	.	0.082759	0.85682	N	0.000000	T	0.59115	0.2170	L	0.31294	0.92	0.39697	D	0.971135	B;B;B;B	0.11235	0.004;0.004;0.002;0.002	B;B;B;B	0.11329	0.005;0.006;0.003;0.003	T	0.34850	-0.9812	10	0.29301	T	0.29	-19.1389	4.4256	0.11501	0.1353:0.2377:0.0:0.627	.	637;637;716;612	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	G	716;637	ENSP00000314499:S716G;ENSP00000421361:S637G	ENSP00000314499:S716G	S	-	1	0	GAK	854601	0.976000	0.34144	0.111000	0.21465	0.011000	0.07611	2.048000	0.41278	-0.166000	0.10890	0.523000	0.50628	AGC	.	.		0.542	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	
WHSC1	7468	hgsc.bcm.edu	37	4	1932357	1932357	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:1932357T>C	ENST00000382895.3	+	8	1846	c.1415T>C	c.(1414-1416)gTa>gCa	p.V472A	WHSC1_ENST00000420906.2_Missense_Mutation_p.V472A|WHSC1_ENST00000508803.1_Missense_Mutation_p.V472A|WHSC1_ENST00000382892.2_Missense_Mutation_p.V472A|WHSC1_ENST00000382891.5_Missense_Mutation_p.V472A|WHSC1_ENST00000398261.1_Missense_Mutation_p.V472A|WHSC1_ENST00000503128.1_Missense_Mutation_p.V472A|WHSC1_ENST00000514045.1_Missense_Mutation_p.V472A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	472					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCACAGGTGGTAGCTGAGCAC	0.483			T	IGH@	MM																																p.V472A		Atlas-SNP	.		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	WHSC1	180	.	0			c.T1415C						.						70.0	61.0	64.0					4																	1932357		2203	4300	6503	SO:0001583	missense	7468	exon6			AGGTGGTAGCTGA	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1415T>C	chr4.hg19:g.1932357T>C	ENSP00000372351:p.Val472Ala	112.0	0.0		91.0	4.0	NM_133335	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	hg19	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706955	0.48412	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;D;D;D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59	5.76	5.76	0.90799	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.249544	0.27991	N	0.017031	D	0.93413	0.7899	N	0.21324	0.655	0.80722	D	1	B;B;B	0.32040	0.353;0.009;0.353	B;B;B	0.28385	0.089;0.021;0.089	D	0.92680	0.6157	10	0.07175	T	0.84	.	16.1249	0.81386	0.0:0.0:0.0:1.0	.	472;472;472	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	A	472	ENSP00000423972:V472A;ENSP00000421681:V472A;ENSP00000372347:V472A;ENSP00000372348:V472A;ENSP00000399251:V472A;ENSP00000372351:V472A;ENSP00000425761:V472A;ENSP00000381311:V472A	ENSP00000308780:V472A	V	+	2	0	WHSC1	1902155	0.994000	0.37717	0.005000	0.12908	0.222000	0.24845	5.440000	0.66563	2.213000	0.71641	0.397000	0.26171	GTA	.	.		0.483	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
WDR19	57728	hgsc.bcm.edu	37	4	39191330	39191330	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:39191330T>C	ENST00000399820.3	+	4	373	c.219T>C	c.(217-219)gcT>gcC	p.A73A	WDR19_ENST00000288634.7_5'UTR|WDR19_ENST00000506503.1_Silent_p.A73A	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	73					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CAGTGATTGCTGAGAAATCTA	0.348																																					p.A73A		Atlas-SNP	.											.	WDR19	96	.	0			c.T219C						.						109.0	107.0	108.0					4																	39191330		1850	4114	5964	SO:0001819	synonymous_variant	57728	exon4			GATTGCTGAGAAA	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.219T>C	chr4.hg19:g.39191330T>C		152.0	0.0		103.0	5.0	NM_025132	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	hg19	CCDS47042.1																																																																																			.	.		0.348	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		
GNPDA2	132789	hgsc.bcm.edu	37	4	44705132	44705132	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:44705132A>G	ENST00000295448.3	-	7	953	c.797T>C	c.(796-798)gTg>gCg	p.V266A	GNPDA2_ENST00000507534.1_Missense_Mutation_p.V196A|GNPDA2_ENST00000507917.1_Missense_Mutation_p.V232A|RP11-700J17.2_ENST00000610267.1_RNA	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	266					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TAGTGGATCCACAAGTTTATT	0.318																																					p.V266A	Colon(54;743 1010 7604 16453 19544)	Atlas-SNP	.											.	GNPDA2	28	.	0			c.T797C						.						113.0	110.0	111.0					4																	44705132		2202	4299	6501	SO:0001583	missense	132789	exon7			GGATCCACAAGTT	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.797T>C	chr4.hg19:g.44705132A>G	ENSP00000295448:p.Val266Ala	74.0	0.0		61.0	4.0	NM_138335	B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Missense_Mutation	SNP	ENST00000295448.3	hg19	CCDS3469.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.020068	0.54576	.	.	ENSG00000163281	ENST00000507917;ENST00000295448;ENST00000507534	T;T;T	0.46819	0.86;0.86;0.86	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	N	0.25647	0.755	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.19148	0.005;0.024	T	0.15607	-1.0431	10	0.41790	T	0.15	-12.5196	13.9246	0.63955	1.0:0.0:0.0:0.0	.	232;266	Q2VYF1;Q8TDQ7	.;GNPI2_HUMAN	A	232;266;196	ENSP00000425868:V232A;ENSP00000295448:V266A;ENSP00000427423:V196A	ENSP00000295448:V266A	V	-	2	0	GNPDA2	44399889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.135000	0.89608	2.125000	0.65367	0.482000	0.46254	GTG	.	.		0.318	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335	
FIP1L1	81608	hgsc.bcm.edu	37	4	54325504	54325504	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:54325504A>G	ENST00000337488.6	+	18	1867	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	FIP1L1_ENST00000358575.5_Missense_Mutation_p.D552G|FIP1L1_ENST00000306932.6_Missense_Mutation_p.D484G|LNX1_ENST00000306888.2_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	558	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAAGAAGGAGATAGTCACAGG	0.393			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.D558G		Atlas-SNP	.		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	FIP1L1	60	.	0			c.A1673G						.						47.0	44.0	45.0					4																	54325504		2203	4300	6503	SO:0001583	missense	81608	exon18			AAGGAGATAGTCA	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1673A>G	chr4.hg19:g.54325504A>G	ENSP00000336752:p.Asp558Gly	85.0	0.0		83.0	4.0	NM_030917	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	hg19	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443265	0.83993	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	D;T;T	0.93712	-3.27;-0.13;1.96	5.41	5.41	0.78517	.	0.065900	0.64402	D	0.000009	D	0.95284	0.8470	L	0.50333	1.59	0.80722	D	1	B;D;B;B	0.63880	0.229;0.993;0.229;0.088	B;D;B;B	0.68192	0.081;0.956;0.081;0.055	D	0.95820	0.8849	10	0.87932	D	0	-23.9542	15.7383	0.77863	1.0:0.0:0.0:0.0	.	552;552;484;558	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	G	558;552;484;218	ENSP00000336752:D558G;ENSP00000351383:D552G;ENSP00000302993:D484G	ENSP00000302993:D484G	D	+	2	0	FIP1L1	54020261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.113000	0.89568	2.174000	0.68829	0.528000	0.53228	GAT	.	.		0.393	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	
CEP135	9662	hgsc.bcm.edu	37	4	56847463	56847463	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:56847463T>C	ENST00000257287.4	+	13	1821	c.1697T>C	c.(1696-1698)cTt>cCt	p.L566P		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	566					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATTGTTAGTCTTATGGAAAAG	0.333																																					p.L566P		Atlas-SNP	.											.	CEP135	115	.	0			c.T1697C						.						102.0	106.0	105.0					4																	56847463		2203	4299	6502	SO:0001583	missense	9662	exon13			TTAGTCTTATGGA	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1697T>C	chr4.hg19:g.56847463T>C	ENSP00000257287:p.Leu566Pro	110.0	0.0		92.0	4.0	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	hg19	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332580	0.41297	.	.	ENSG00000174799	ENST00000257287	T	0.44482	0.92	4.79	2.09	0.27110	.	0.712882	0.13627	N	0.374029	T	0.32615	0.0835	L	0.36672	1.1	0.39041	D	0.960133	P	0.48016	0.904	P	0.44811	0.461	T	0.14062	-1.0486	10	0.41790	T	0.15	.	5.4824	0.16731	0.1623:0.0:0.3594:0.4783	.	566	Q66GS9	CP135_HUMAN	P	566	ENSP00000257287:L566P	ENSP00000257287:L566P	L	+	2	0	CEP135	56542220	0.993000	0.37304	0.947000	0.38551	0.946000	0.59487	1.784000	0.38674	0.770000	0.33336	0.383000	0.25322	CTT	.	.		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
GRSF1	2926	hgsc.bcm.edu	37	4	71691022	71691022	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:71691022A>G	ENST00000254799.6	-	8	1501	c.1384T>C	c.(1384-1386)Tcc>Ccc	p.S462P	GRSF1_ENST00000439371.1_Missense_Mutation_p.S300P|GRSF1_ENST00000545193.1_Missense_Mutation_p.S344P|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.S300P	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	462	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			CGAACGTGGGACCGATCCTTG	0.448																																					p.S462P		Atlas-SNP	.											.	GRSF1	35	.	0			c.T1384C						.						69.0	69.0	69.0					4																	71691022		2017	4196	6213	SO:0001583	missense	2926	exon8			CGTGGGACCGATC	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1384T>C	chr4.hg19:g.71691022A>G	ENSP00000254799:p.Ser462Pro	154.0	0.0		81.0	5.0	NM_002092	B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	hg19	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.260216	0.39995	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.97	4.79	0.61399	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.660495	0.16615	N	0.206721	T	0.12646	0.0307	M	0.64404	1.975	0.27494	N	0.952197	B;B	0.30793	0.295;0.153	B;B	0.37267	0.245;0.162	T	0.13415	-1.0510	10	0.56958	D	0.05	-2.8195	7.8339	0.29360	0.68:0.2525:0.0675:0.0	.	375;462	B7Z5F9;Q12849	.;GRSF1_HUMAN	P	462;300;394;435;300;344	ENSP00000254799:S462P;ENSP00000389219:S300P;ENSP00000427354:S435P;ENSP00000425430:S300P;ENSP00000443380:S344P	ENSP00000254799:S462P	S	-	1	0	GRSF1	71909886	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	1.412000	0.34714	1.076000	0.40961	0.533000	0.62120	TCC	.	.		0.448	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092	
PPEF2	5470	hgsc.bcm.edu	37	4	76793207	76793207	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:76793207C>T	ENST00000286719.7	-	13	1976	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	540	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTGGGTCACCTTGTTAGCTT	0.433																																					p.K540K	NSCLC(105;1359 1603 15961 44567 47947)	Atlas-SNP	.											.	PPEF2	108	.	0			c.G1620A						.						137.0	124.0	128.0					4																	76793207		2203	4300	6503	SO:0001819	synonymous_variant	5470	exon13			GGTCACCTTGTTA	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1620G>A	chr4.hg19:g.76793207C>T		126.0	0.0		99.0	4.0	NM_006239	O14831	Silent	SNP	ENST00000286719.7	hg19	CCDS34013.1																																																																																			.	.		0.433	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
PPEF2	5470	hgsc.bcm.edu	37	4	76797570	76797570	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:76797570T>C	ENST00000286719.7	-	11	1546	c.1190A>G	c.(1189-1191)gAg>gGg	p.E397G		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	397	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCGCTCTAGCTCCAGTTCCAC	0.657																																					p.E397G	NSCLC(105;1359 1603 15961 44567 47947)	Atlas-SNP	.											.	PPEF2	108	.	0			c.A1190G						.						27.0	30.0	29.0					4																	76797570		2203	4300	6503	SO:0001583	missense	5470	exon11			TCTAGCTCCAGTT	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1190A>G	chr4.hg19:g.76797570T>C	ENSP00000286719:p.Glu397Gly	74.0	0.0		90.0	4.0	NM_006239	O14831	Missense_Mutation	SNP	ENST00000286719.7	hg19	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940316	0.52972	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.43294	0.95	5.09	2.47	0.30058	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	2.254190	0.02416	N	0.082082	T	0.45074	0.1324	M	0.68317	2.08	0.31947	N	0.610223	P;P	0.38078	0.617;0.474	B;B	0.37833	0.173;0.259	T	0.45818	-0.9235	10	0.54805	T	0.06	-8.7218	6.0339	0.19694	0.0:0.0896:0.1641:0.7463	.	397;397	O14830-2;O14830	.;PPE2_HUMAN	G	397	ENSP00000286719:E397G	ENSP00000286719:E397G	E	-	2	0	PPEF2	77016594	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	3.036000	0.49767	0.795000	0.33922	0.402000	0.26972	GAG	.	.		0.657	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
NAAA	27163	hgsc.bcm.edu	37	4	76861242	76861242	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:76861242A>G	ENST00000286733.4	-	2	384	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L	NAAA_ENST00000399497.3_Missense_Mutation_p.F95L|NAAA_ENST00000507956.1_Missense_Mutation_p.F95L|NAAA_ENST00000505594.1_5'UTR|NAAA_ENST00000507187.2_Missense_Mutation_p.F95L	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	95					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TCGCCGGTGAAGGGCTGGGGC	0.597																																					p.F95L		Atlas-SNP	.											.	NAAA	26	.	0			c.T283C						.						52.0	60.0	57.0					4																	76861242		2035	4186	6221	SO:0001583	missense	27163	exon2			CGGTGAAGGGCTG	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.283T>C	chr4.hg19:g.76861242A>G	ENSP00000286733:p.Phe95Leu	132.0	0.0		105.0	5.0	NM_014435	Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	hg19	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541104	0.65085	.	.	ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000399490;ENST00000507187	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.1	3.91	0.45181	.	0.131674	0.53938	D	0.000047	T	0.42899	0.1223	M	0.70275	2.135	0.22803	N	0.998714	P;B	0.46952	0.887;0.376	B;B	0.40825	0.341;0.114	T	0.34204	-0.9838	10	0.27785	T	0.31	-6.1781	7.5806	0.27963	0.9044:0.0:0.0956:0.0	.	95;95	D6R9S9;Q02083	.;NAAA_HUMAN	L	95	ENSP00000382420:F95L;ENSP00000286733:F95L;ENSP00000427641:F95L;ENSP00000423142:F95L	ENSP00000286733:F95L	F	-	1	0	NAAA	77080266	1.000000	0.71417	0.199000	0.23439	0.990000	0.78478	4.680000	0.61656	0.960000	0.38005	0.477000	0.44152	TTC	.	.		0.597	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4		
FRAS1	80144	hgsc.bcm.edu	37	4	79353651	79353651	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:79353651T>C	ENST00000325942.6	+	38	5550	c.5110T>C	c.(5110-5112)Tcc>Ccc	p.S1704P	FRAS1_ENST00000264895.6_Missense_Mutation_p.S1704P	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1704					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGTAGAGGTGTCCCTGTCAGA	0.522																																					p.S1704P		Atlas-SNP	.											.	FRAS1	779	.	0			c.T5110C						.						66.0	72.0	70.0					4																	79353651		2036	4177	6213	SO:0001583	missense	80144	exon38			GAGGTGTCCCTGT	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5110T>C	chr4.hg19:g.79353651T>C	ENSP00000326330:p.Ser1704Pro	145.0	0.0		118.0	5.0	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	hg19	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.43|13.43	2.235200|2.235200	0.39498|0.39498	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944	T;T|T	0.52983|0.35605	0.64;0.64|1.3	5.96|5.96	4.75|4.75	0.60458|0.60458	.|.	0.354493|.	0.28555|.	N|.	0.014937|.	T|T	0.41236|0.41236	0.1150|0.1150	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	P;D|.	0.55800|.	0.954;0.973|.	P;P|.	0.50754|.	0.556;0.649|.	T|T	0.26883|0.26883	-1.0090|-1.0090	10|7	0.32370|0.62326	T|D	0.25|0.03	.|.	10.851|10.851	0.46769|0.46769	0.2514:0.0:0.0:0.7486|0.2514:0.0:0.0:0.7486	.|.	1704;1704|.	E9PHH6;A2RRR8|.	.;.|.	P|A	1704;1704;124|153	ENSP00000326330:S1704P;ENSP00000264895:S1704P|ENSP00000422221:V153A	ENSP00000264895:S1704P|ENSP00000422221:V153A	S|V	+|+	1|2	0|0	FRAS1|FRAS1	79572675|79572675	0.995000|0.995000	0.38212|0.38212	0.968000|0.968000	0.41197|0.41197	0.012000|0.012000	0.07955|0.07955	0.916000|0.916000	0.28651|0.28651	1.027000|1.027000	0.39758|0.39758	0.533000|0.533000	0.62120|0.62120	TCC|GTC	.	.		0.522	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
MEPE	56955	hgsc.bcm.edu	37	4	88767270	88767270	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:88767270A>G	ENST00000424957.3	+	4	1323	c.1250A>G	c.(1249-1251)aAc>aGc	p.N417S	MEPE_ENST00000361056.3_Missense_Mutation_p.N417S|MEPE_ENST00000560249.1_Missense_Mutation_p.N304S|MEPE_ENST00000497649.2_Missense_Mutation_p.N393S|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.N448S|MEPE_ENST00000540395.1_Missense_Mutation_p.N304S	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	417					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCTAATAGGAACCAAGCAACC	0.393																																					p.N417S		Atlas-SNP	.											.	MEPE	86	.	0			c.A1250G						.						84.0	80.0	81.0					4																	88767270		2203	4300	6503	SO:0001583	missense	56955	exon4			ATAGGAACCAAGC	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1250A>G	chr4.hg19:g.88767270A>G	ENSP00000416984:p.Asn417Ser	113.0	0.0		94.0	4.0	NM_020203	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	hg19	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310199	0.23821	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.54071	4.34;0.61;0.59;0.62;4.34	5.08	2.71	0.32032	.	0.496943	0.18671	N	0.134457	T	0.38612	0.1047	L	0.44542	1.39	0.09310	N	1	B	0.34255	0.445	B	0.31614	0.133	T	0.18935	-1.0321	10	0.38643	T	0.18	-8.3568	6.1238	0.20167	0.8024:0.0:0.1976:0.0	.	417	Q9NQ76	MEPE_HUMAN	S	417;448;393;304;417	ENSP00000416984:N417S;ENSP00000378534:N448S;ENSP00000422747:N393S;ENSP00000443491:N304S;ENSP00000354341:N417S	ENSP00000354341:N417S	N	+	2	0	MEPE	88986294	0.001000	0.12720	0.001000	0.08648	0.063000	0.16089	0.592000	0.23984	0.439000	0.26476	0.460000	0.39030	AAC	.	.		0.393	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1		
METAP1	23173	hgsc.bcm.edu	37	4	99960538	99960538	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:99960538T>C	ENST00000296411.6	+	5	488	c.354T>C	c.(352-354)tcT>tcC	p.S118S	METAP1_ENST00000544031.1_Silent_p.S68S	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	118					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TGTCTGAATCTGAACAGGCTC	0.333																																					p.S118S		Atlas-SNP	.											.	METAP1	40	.	0			c.T354C						.						121.0	114.0	116.0					4																	99960538		1811	4074	5885	SO:0001819	synonymous_variant	23173	exon5			TGAATCTGAACAG	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.354T>C	chr4.hg19:g.99960538T>C		72.0	0.0		75.0	4.0	NM_015143	B4E2E6	Silent	SNP	ENST00000296411.6	hg19	CCDS47110.1																																																																																			.	.		0.333	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143	
NDST4	64579	hgsc.bcm.edu	37	4	115856381	115856381	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:115856381A>G	ENST00000264363.2	-	6	2195	c.1517T>C	c.(1516-1518)cTc>cCc	p.L506P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	506	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGGATTGTGAGAAAAAGTTC	0.348																																					p.L506P		Atlas-SNP	.											.	NDST4	193	.	0			c.T1517C						.						192.0	194.0	194.0					4																	115856381		2203	4300	6503	SO:0001583	missense	64579	exon6			ATTGTGAGAAAAA	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1517T>C	chr4.hg19:g.115856381A>G	ENSP00000264363:p.Leu506Pro	140.0	0.0		82.0	4.0	NM_022569	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	hg19	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858431	0.51376	.	.	ENSG00000138653	ENST00000264363	T	0.38401	1.14	5.12	5.12	0.69794	.	0.059132	0.64402	D	0.000001	T	0.48960	0.1529	M	0.75447	2.3	0.80722	D	1	P	0.40250	0.709	P	0.46510	0.519	T	0.52071	-0.8624	10	0.49607	T	0.09	.	14.9199	0.70829	1.0:0.0:0.0:0.0	.	506	Q9H3R1	NDST4_HUMAN	P	506	ENSP00000264363:L506P	ENSP00000264363:L506P	L	-	2	0	NDST4	116075830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.248000	0.95456	1.912000	0.55364	0.482000	0.46254	CTC	.	.		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
SYNPO2	171024	hgsc.bcm.edu	37	4	119948231	119948231	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:119948231A>G	ENST00000429713.2	+	3	889	c.707A>G	c.(706-708)gAc>gGc	p.D236G	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.D236G|SYNPO2_ENST00000434046.2_Missense_Mutation_p.D236G	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	236						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGTCACATGACAGGATTGTC	0.488																																					p.D236G		Atlas-SNP	.											.	SYNPO2	353	.	0			c.A707G						.						46.0	51.0	49.0					4																	119948231		2203	4300	6503	SO:0001583	missense	171024	exon3			CACATGACAGGAT	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.707A>G	chr4.hg19:g.119948231A>G	ENSP00000395143:p.Asp236Gly	81.0	0.0		84.0	4.0	NM_001128934	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	hg19	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.575|0.575	-0.839559|-0.839559	0.02692|0.02692	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.08370|.	3.1;3.11;3.1|.	5.21|5.21	-0.747|-0.747	0.11091|0.11091	.|.	0.719811|.	0.12666|.	N|.	0.449207|.	T|.	0.29158|.	0.0725|.	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	0.999992|0.999992	B;B;B;B|.	0.11235|.	0.002;0.004;0.001;0.001|.	B;B;B;B|.	0.06405|.	0.001;0.002;0.002;0.002|.	T|.	0.30090|.	-0.9990|.	10|.	0.20519|.	T|.	0.43|.	-2.9747|-2.9747	6.1596|6.1596	0.20356|0.20356	0.5402:0.1319:0.3279:0.0|0.5402:0.1319:0.3279:0.0	.|.	236;236;236;236|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	G|W	236|187	ENSP00000306015:D236G;ENSP00000395143:D236G;ENSP00000390965:D236G|.	ENSP00000306015:D236G|.	D|X	+|+	2|3	0|0	SYNPO2|SYNPO2	120167679|120167679	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.752000|0.752000	0.26362|0.26362	0.033000|0.033000	0.15463|0.15463	0.455000|0.455000	0.32223|0.32223	GAC|TGA	.	.		0.488	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
FAT4	79633	hgsc.bcm.edu	37	4	126238284	126238284	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:126238284G>T	ENST00000394329.3	+	1	731	c.718G>T	c.(718-720)Gtg>Ttg	p.V240L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAACGTGACTGTGCAAGACAT	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V240L		Atlas-SNP	.											.	FAT4	1752	.	0			c.G718T						.						29.0	33.0	32.0					4																	126238284		2030	4181	6211	SO:0001583	missense	79633	exon1			GTGACTGTGCAAG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.718G>T	chr4.hg19:g.126238284G>T	ENSP00000377862:p.Val240Leu	138.0	0.0	1548	98.0	8.0	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250437	0.22880	.	.	ENSG00000196159	ENST00000394329	T	0.63913	-0.07	5.13	5.13	0.70059	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.64853	0.2636	M	0.73319	2.225	0.80722	D	1	B	0.29212	0.237	B	0.35278	0.199	T	0.66221	-0.5978	10	0.49607	T	0.09	.	13.8954	0.63768	0.0754:0.0:0.9246:0.0	.	240	Q6V0I7	FAT4_HUMAN	L	240	ENSP00000377862:V240L	ENSP00000377862:V240L	V	+	1	0	FAT4	126457734	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	5.185000	0.65076	2.364000	0.80123	0.655000	0.94253	GTG	.	.		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
ARHGAP10	79658	hgsc.bcm.edu	37	4	148778702	148778702	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:148778702A>G	ENST00000336498.3	+	5	623		c.e5-1			NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTTATTTGTAGGAAGAAAAA	0.254																																					.		Atlas-SNP	.											.	ARHGAP10	92	.	0			c.385-2A>G						.						16.0	17.0	16.0					4																	148778702		2074	4159	6233	SO:0001630	splice_region_variant	79658	exon5			ATTTGTAGGAAGA	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.385-1A>G	chr4.hg19:g.148778702A>G		43.0	0.0		38.0	17.0	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000336498.3	hg19	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619763	0.66787	.	.	ENSG00000071205	ENST00000336498	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8857	0.70567	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP10	148998152	1.000000	0.71417	0.949000	0.38748	0.745000	0.42441	8.319000	0.89992	2.206000	0.71126	0.528000	0.53228	.	.	.		0.254	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	Intron
LRBA	987	hgsc.bcm.edu	37	4	151727552	151727552	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:151727552T>C	ENST00000357115.3	-	33	5632	c.5389A>G	c.(5389-5391)Aca>Gca	p.T1797A	LRBA_ENST00000535741.1_Missense_Mutation_p.T1797A|LRBA_ENST00000507224.1_Missense_Mutation_p.T1797A|LRBA_ENST00000510413.1_Missense_Mutation_p.T1797A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1797						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCCTCTCTGTAATACTAAGG	0.338																																					p.T1797A		Atlas-SNP	.											.	LRBA	253	.	0			c.A5389G						.						39.0	41.0	40.0					4																	151727552		2203	4300	6503	SO:0001583	missense	987	exon33			TCTCTGTAATACT	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5389A>G	chr4.hg19:g.151727552T>C	ENSP00000349629:p.Thr1797Ala	97.0	0.0		70.0	4.0	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.922047	0.73213	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.59638	0.68;0.83;0.69;0.25	5.55	5.55	0.83447	.	0.253838	0.40728	N	0.001023	T	0.62122	0.2402	M	0.81802	2.56	0.80722	D	1	B;P	0.34615	0.451;0.459	B;B	0.33960	0.137;0.173	T	0.67461	-0.5665	10	0.66056	D	0.02	.	15.692	0.77461	0.0:0.0:0.0:1.0	.	1797;1797	P50851;P50851-2	LRBA_HUMAN;.	A	1797	ENSP00000446299:T1797A;ENSP00000421552:T1797A;ENSP00000349629:T1797A;ENSP00000422180:T1797A	ENSP00000349629:T1797A	T	-	1	0	LRBA	151947002	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.856000	0.62932	2.104000	0.64026	0.533000	0.62120	ACA	.	.		0.338	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
PDGFC	56034	hgsc.bcm.edu	37	4	157693868	157693868	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:157693868T>C	ENST00000502773.1	-	4	1163	c.673A>G	c.(673-675)Aag>Gag	p.K225E	PDGFC_ENST00000542208.1_Missense_Mutation_p.K70E|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.K62E|PDGFC_ENST00000422544.2_Missense_Mutation_p.K225E	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	225		Cleavage.			activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ACAAAAGCCTTGCCAAGAAGT	0.393																																					p.K225E		Atlas-SNP	.											.	PDGFC	46	.	0			c.A673G						.						54.0	54.0	54.0					4																	157693868		2203	4300	6503	SO:0001583	missense	56034	exon4			AAGCCTTGCCAAG	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.673A>G	chr4.hg19:g.157693868T>C	ENSP00000422464:p.Lys225Glu	95.0	0.0		68.0	4.0	NM_016205	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	hg19	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959656	0.92791	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208;ENST00000422544	T;T;T;T	0.44881	2.42;0.91;0.91;2.27	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.75447	2.3	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.98;0.985	T	0.69022	-0.5255	10	0.72032	D	0.01	-34.1448	15.7997	0.78443	0.0:0.0:0.0:1.0	.	70;225	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	E	225;62;70;225	ENSP00000422464:K225E;ENSP00000442943:K62E;ENSP00000439728:K70E;ENSP00000410048:K225E	ENSP00000410048:K225E	K	-	1	0	PDGFC	157913318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.189000	0.69895	0.460000	0.39030	AAG	.	.		0.393	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1		
GALNTL6	442117	hgsc.bcm.edu	37	4	173930373	173930373	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:173930373A>G	ENST00000506823.1	+	11	2073	c.1416A>G	c.(1414-1416)ggA>ggG	p.G472G	GALNTL6_ENST00000508122.1_Silent_p.G455G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	472	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCAAGCATGGAGCCACCGGAA	0.493																																					p.G472G		Atlas-SNP	.											.	GALNTL6	102	.	0			c.A1416G						.						93.0	93.0	93.0					4																	173930373		2203	4300	6503	SO:0001819	synonymous_variant	442117	exon11			GCATGGAGCCACC		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1416A>G	chr4.hg19:g.173930373A>G		136.0	0.0		92.0	5.0	NM_001034845	Q2L4S6	Silent	SNP	ENST00000506823.1	hg19	CCDS34104.1																																																																																			.	.		0.493	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
TENM3	55714	hgsc.bcm.edu	37	4	183575041	183575041	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:183575041A>G	ENST00000511685.1	+	6	1229	c.1106A>G	c.(1105-1107)gAc>gGc	p.D369G	TENM3_ENST00000406950.2_Missense_Mutation_p.D369G			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	369					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTTCTGGAGACAATGGTAAG	0.368																																					p.D369G		Atlas-SNP	.											.	.	.	.	0			c.A1106G						.						110.0	105.0	106.0					4																	183575041		1903	4129	6032	SO:0001583	missense	55714	exon5			CTGGAGACAATGG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1106A>G	chr4.hg19:g.183575041A>G	ENSP00000424226:p.Asp369Gly	115.0	0.0		92.0	4.0	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	hg19	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447647	0.26074	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86164	-2.08;-2.08	5.95	5.95	0.96441	.	.	.	.	.	T	0.76463	0.3991	N	0.00729	-1.24	0.47153	D	0.999339	P	0.49447	0.924	P	0.59424	0.857	T	0.77373	-0.2612	9	0.02654	T	1	.	16.4323	0.83853	1.0:0.0:0.0:0.0	.	369	Q9P273	TEN3_HUMAN	G	369	ENSP00000424226:D369G;ENSP00000385276:D369G	ENSP00000385276:D369G	D	+	2	0	ODZ3	183812035	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	6.778000	0.75043	2.281000	0.76405	0.528000	0.53228	GAC	.	.		0.368	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TRAPPC11	60684	hgsc.bcm.edu	37	4	184589187	184589187	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:184589187A>G	ENST00000334690.6	+	5	679	c.477A>G	c.(475-477)gcA>gcG	p.A159A	TRAPPC11_ENST00000357207.4_Silent_p.A159A|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	159					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											AAAGGGCTGCAGCTTTATGCA	0.378																																					p.A159A		Atlas-SNP	.											.	.	.	.	0			c.A477G						.						144.0	144.0	144.0					4																	184589187		2203	4300	6503	SO:0001819	synonymous_variant	60684	exon5			GGCTGCAGCTTTA		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.477A>G	chr4.hg19:g.184589187A>G		76.0	0.0		60.0	4.0	NM_021942	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	hg19	CCDS34112.1																																																																																			.	.		0.378	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	
TERT	7015	hgsc.bcm.edu	37	5	1293886	1293886	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:1293886A>G	ENST00000310581.5	-	2	1172	c.1115T>C	c.(1114-1116)aTg>aCg	p.M372T	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000334602.6_Missense_Mutation_p.M372T|TERT_ENST00000508104.2_Missense_Mutation_p.M372T|TERT_ENST00000296820.5_Missense_Mutation_p.M372T	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	372	RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	AGTCCCTGGCATCCAGGGCCT	0.667									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																												p.M372T		Atlas-SNP	.											.	TERT	2594	.	0			c.T1115C						.						16.0	18.0	17.0					5																	1293886		2132	4211	6343	SO:0001583	missense	7015	exon2	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	CCTGGCATCCAGG	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1115T>C	chr5.hg19:g.1293886A>G	ENSP00000309572:p.Met372Thr	91.0	0.0		82.0	4.0	NM_001193376	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	hg19	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.358819	0.00214	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96168	-3.93;-3.9;-3.83;-3.9	3.99	-7.98	0.01135	.	2.236320	0.02476	N	0.088030	T	0.81503	0.4836	N	0.01168	-0.975	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.79969	-0.1579	10	0.13853	T	0.58	-21.0764	4.858	0.13570	0.086:0.2156:0.4544:0.244	.	372;372;372	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	T	372	ENSP00000309572:M372T;ENSP00000296820:M372T;ENSP00000334346:M372T;ENSP00000426042:M372T	ENSP00000296820:M372T	M	-	2	0	TERT	1346886	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.669000	0.00845	-2.827000	0.00341	-0.738000	0.03535	ATG	.	.		0.667	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
LPCAT1	79888	hgsc.bcm.edu	37	5	1467007	1467007	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:1467007T>C	ENST00000283415.3	-	13	1411		c.e13-2		LPCAT1_ENST00000503252.1_Splice_Site	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1						cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TCCGTACATCTGCAAGGCAAA	0.667																																					.		Atlas-SNP	.											.	LPCAT1	70	.	0			c.1279-2A>G						.						105.0	86.0	92.0					5																	1467007		2203	4300	6503	SO:0001630	splice_region_variant	79888	exon14			TACATCTGCAAGG	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1279-2A>G	chr5.hg19:g.1467007T>C		107.0	0.0		98.0	4.0	NM_024830	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Splice_Site	SNP	ENST00000283415.3	hg19	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408484	0.25378	.	.	ENSG00000153395	ENST00000283415	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0333	0.53410	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPCAT1	1520007	1.000000	0.71417	0.960000	0.40013	0.110000	0.19582	6.282000	0.72639	1.793000	0.52555	0.459000	0.35465	.	.	.		0.667	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830	Intron
ITGA2	3673	hgsc.bcm.edu	37	5	52371092	52371092	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:52371092T>C	ENST00000296585.5	+	23	2926	c.2783T>C	c.(2782-2784)cTc>cCc	p.L928P		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	928					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTGGTCAACCTCAAAATTCCT	0.368																																					p.L928P		Atlas-SNP	.											.	ITGA2	211	.	0			c.T2783C						.						68.0	69.0	69.0					5																	52371092		2203	4300	6503	SO:0001583	missense	3673	exon23			TCAACCTCAAAAT		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2783T>C	chr5.hg19:g.52371092T>C	ENSP00000296585:p.Leu928Pro	89.0	0.0		99.0	4.0	NM_002203	Q14595	Missense_Mutation	SNP	ENST00000296585.5	hg19	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658821	0.67586	.	.	ENSG00000164171	ENST00000296585	T	0.56611	0.45	6.16	5.01	0.66863	Integrin alpha-2 (1);	0.421494	0.25830	N	0.028022	T	0.55433	0.1920	N	0.19112	0.55	0.26756	N	0.970107	D;D	0.59767	0.977;0.986	D;P	0.64410	0.925;0.857	T	0.53070	-0.8490	10	0.72032	D	0.01	.	12.0881	0.53708	0.0:0.0662:0.0:0.9338	.	928;928	E7ESP4;P17301	.;ITA2_HUMAN	P	928	ENSP00000296585:L928P	ENSP00000296585:L928P	L	+	2	0	ITGA2	52406849	0.993000	0.37304	0.012000	0.15200	0.934000	0.57294	7.043000	0.76572	1.162000	0.42619	0.528000	0.53228	CTC	.	.		0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
DHX29	54505	hgsc.bcm.edu	37	5	54570765	54570765	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:54570765T>C	ENST00000251636.5	-	15	2649	c.2501A>G	c.(2500-2502)cAg>cGg	p.Q834R	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	834						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATAGCATGCTGAGTGCGGCT	0.388																																					p.Q834R		Atlas-SNP	.											.	DHX29	116	.	0			c.A2501G						.						104.0	108.0	107.0					5																	54570765		2203	4300	6503	SO:0001583	missense	54505	exon15			GCATGCTGAGTGC	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2501A>G	chr5.hg19:g.54570765T>C	ENSP00000251636:p.Gln834Arg	109.0	0.0		79.0	16.0	NM_019030	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	hg19	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.437022	0.25900	.	.	ENSG00000067248	ENST00000251636	T	0.13420	2.59	5.1	5.1	0.69264	.	0.059769	0.64402	D	0.000002	T	0.04407	0.0121	N	0.02802	-0.49	0.43390	D	0.995508	B	0.02656	0.0	B	0.04013	0.001	T	0.26916	-1.0089	10	0.02654	T	1	.	7.8895	0.29669	0.0:0.1558:0.0:0.8442	.	834	Q7Z478	DHX29_HUMAN	R	834	ENSP00000251636:Q834R	ENSP00000251636:Q834R	Q	-	2	0	DHX29	54606522	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.460000	0.60108	2.054000	0.61138	0.460000	0.39030	CAG	.	.		0.388	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	
SKIV2L2	23517	hgsc.bcm.edu	37	5	54603859	54603859	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:54603859A>G	ENST00000230640.5	+	1	272	c.18A>G	c.(16-18)ggA>ggG	p.G6G	SKIV2L2_ENST00000545714.1_5'UTR|SKIV2L2_ENST00000504388.1_3'UTR|DHX29_ENST00000251636.5_5'Flank	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	6					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.G6G(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ACGCATTCGGAGATGAGCTGT	0.572																																					p.G6G	Melanoma(2;92 134 23744 29976 33782)	Atlas-SNP	.											SKIV2L2,NS,carcinoma,0,1	SKIV2L2	104	.	1	Substitution - coding silent(1)	endometrium(1)	c.A18G						.						100.0	91.0	94.0					5																	54603859		2203	4300	6503	SO:0001819	synonymous_variant	23517	exon1			ATTCGGAGATGAG	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.18A>G	chr5.hg19:g.54603859A>G		132.0	1.0		120.0	7.0	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	hg19	CCDS3967.1																																																																																			.	.		0.572	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
PDE4D	5144	hgsc.bcm.edu	37	5	58270500	58270500	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:58270500A>G	ENST00000340635.6	-	15	2596	c.2421T>C	c.(2419-2421)ccT>ccC	p.P807P	PDE4D_ENST00000546160.1_Silent_p.P746P|PDE4D_ENST00000317118.8_Silent_p.P516P|PDE4D_ENST00000405755.2_Silent_p.P685P|PDE4D_ENST00000507116.1_Silent_p.P743P|PDE4D_ENST00000502484.2_Silent_p.P746P|PDE4D_ENST00000358923.6_Silent_p.P505P|PDE4D_ENST00000503258.1_Silent_p.P677P|PDE4D_ENST00000360047.5_Silent_p.P671P	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	807					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTTACGTGTCAGGAGAACGAT	0.433																																					p.P807P		Atlas-SNP	.											.	PDE4D	345	.	0			c.T2421C						.						168.0	164.0	165.0					5																	58270500		1920	4142	6062	SO:0001819	synonymous_variant	5144	exon15			CGTGTCAGGAGAA		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2421T>C	chr5.hg19:g.58270500A>G		122.0	0.0		131.0	6.0	NM_001104631	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	hg19	CCDS47213.1																																																																																			.	.		0.433	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		
CWC27	10283	hgsc.bcm.edu	37	5	64079686	64079686	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:64079686T>C	ENST00000381070.3	+	4	493	c.276T>C	c.(274-276)cgT>cgC	p.R92R	CWC27_ENST00000508024.1_Silent_p.R92R	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	92	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CACGGTTGCGTTTTAATCGGA	0.403																																					p.R92R		Atlas-SNP	.											.	CWC27	47	.	0			c.T276C						.						202.0	195.0	197.0					5																	64079686		2203	4300	6503	SO:0001819	synonymous_variant	10283	exon4			GTTGCGTTTTAAT	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.276T>C	chr5.hg19:g.64079686T>C		62.0	0.0		91.0	4.0	NM_005869	O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	hg19	CCDS3982.2																																																																																			.	.		0.403	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869	
MCCC2	64087	hgsc.bcm.edu	37	5	70942047	70942047	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:70942047T>C	ENST00000340941.6	+	13	1288	c.1159T>C	c.(1159-1161)Ttt>Ctt	p.F387L	MCCC2_ENST00000323375.8_Missense_Mutation_p.F349L	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	387	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGGTACTCACTTTGTCCAGTT	0.338																																					p.F387L		Atlas-SNP	.											.	MCCC2	47	.	0			c.T1159C						.						116.0	118.0	118.0					5																	70942047		2203	4299	6502	SO:0001583	missense	64087	exon13			ACTCACTTTGTCC	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1159T>C	chr5.hg19:g.70942047T>C	ENSP00000343657:p.Phe387Leu	94.0	0.0		91.0	4.0	NM_022132	A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	hg19	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.151009	0.78001	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.98178	-4.77;-4.77;-4.77	5.42	5.42	0.78866	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.045076	0.85682	D	0.000000	D	0.99363	0.9776	H	0.98525	4.255	0.80722	D	1	D	0.65815	0.995	D	0.69142	0.962	D	0.98391	1.0563	10	0.87932	D	0	-21.2728	14.4504	0.67382	0.0:0.0:0.0:1.0	.	387	Q9HCC0	MCCB_HUMAN	L	387;349;159	ENSP00000343657:F387L;ENSP00000327308:F349L;ENSP00000425474:F159L	ENSP00000327308:F349L	F	+	1	0	MCCC2	70977803	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.793000	0.75130	2.055000	0.61198	0.455000	0.32223	TTT	.	.		0.338	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		
COL4A3BP	10087	hgsc.bcm.edu	37	5	74685511	74685511	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:74685511A>G	ENST00000405807.4	-	12	1611	c.1190T>C	c.(1189-1191)gTt>gCt	p.V397A	COL4A3BP_ENST00000261415.7_Splice_Site_p.V371A|COL4A3BP_ENST00000380494.5_Splice_Site_p.V525A	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	397	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CATCTCTTCAACCTTGAGAAG	0.408																																					p.V525A		Atlas-SNP	.											.	COL4A3BP	72	.	0			c.T1574C						.						108.0	96.0	100.0					5																	74685511		2203	4300	6503	SO:0001630	splice_region_variant	10087	exon13			TCTTCAACCTTGA	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1189-1T>C	chr5.hg19:g.74685511A>G		93.0	0.0		77.0	4.0	NM_001130105	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	hg19	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627862	0.87560	.	.	ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	D;D;D	0.83673	-1.75;-1.75;-1.75	5.14	5.14	0.70334	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	L	0.47716	1.5	0.58432	D	0.999994	D;D;D	0.64830	0.98;0.994;0.989	P;D;D	0.66084	0.874;0.941;0.921	D	0.86563	0.1842	10	0.39692	T	0.17	-3.1345	15.2562	0.73588	1.0:0.0:0.0:0.0	.	397;525;371	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	A	2;397;525;371	ENSP00000383996:V397A;ENSP00000369862:V525A;ENSP00000261415:V371A	ENSP00000261415:V371A	V	-	2	0	COL4A3BP	74721267	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.158000	0.94723	2.071000	0.62044	0.460000	0.39030	GTT	.	.		0.408	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	Missense_Mutation
RASA1	5921	hgsc.bcm.edu	37	5	86659274	86659274	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:86659274T>C	ENST00000274376.6	+	11	2127	c.1563T>C	c.(1561-1563)gaT>gaC	p.D521D	RASA1_ENST00000506290.1_Silent_p.D355D|RASA1_ENST00000512763.1_Silent_p.D354D|RASA1_ENST00000456692.2_Silent_p.D344D	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	521	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GATTAATAGATCTCAGTGTAT	0.328																																					p.D521D		Atlas-SNP	.											.	RASA1	213	.	0			c.T1563C						.						105.0	105.0	105.0					5																	86659274		2203	4300	6503	SO:0001819	synonymous_variant	5921	exon11			AATAGATCTCAGT		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1563T>C	chr5.hg19:g.86659274T>C		83.0	0.0		69.0	4.0	NM_002890	B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	hg19	CCDS34200.1																																																																																			.	.		0.328	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
CCNH	902	hgsc.bcm.edu	37	5	86703825	86703825	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:86703825T>C	ENST00000256897.4	-	4	717	c.493A>G	c.(493-495)Aga>Gga	p.R165G	CCNH_ENST00000504878.1_Missense_Mutation_p.R91G|CCNH_ENST00000513499.1_Splice_Site|CCNH_ENST00000508855.1_Missense_Mutation_p.R91G	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	165					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TCAAATGGTCTGTAAGGATTG	0.358								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																													p.R165G		Atlas-SNP	.											.	CCNH	40	.	0			c.A493G						.						126.0	121.0	123.0					5																	86703825		2203	4300	6503	SO:0001583	missense	902	exon4			ATGGTCTGTAAGG	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.493A>G	chr5.hg19:g.86703825T>C	ENSP00000256897:p.Arg165Gly	96.0	0.0		82.0	4.0	NM_001239	Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	hg19	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.692857	0.48202	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	T;T;T	0.64991	-0.13;-0.13;-0.13	5.29	4.07	0.47477	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77004	0.989;0.983	D	0.85764	0.1351	10	0.87932	D	0	-17.7492	13.4681	0.61268	0.0:0.0:0.1393:0.8607	.	165;112	P51946;E9PDB6	CCNH_HUMAN;.	G	91;165;91	ENSP00000426454:R91G;ENSP00000256897:R165G;ENSP00000426075:R91G	ENSP00000256897:R165G	R	-	1	2	CCNH	86739581	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	3.028000	0.49705	2.005000	0.58758	0.533000	0.62120	AGA	.	.		0.358	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239	
KIAA0825	285600	hgsc.bcm.edu	37	5	93807341	93807341	+	Silent	SNP	C	C	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:93807341C>A	ENST00000513200.3	-	8	1623	c.1551G>T	c.(1549-1551)gtG>gtT	p.V517V	KIAA0825_ENST00000312498.7_Silent_p.V517V|KIAA0825_ENST00000427991.2_Silent_p.V517V	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	517										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AACAGGCCTCCACCAAGTTTG	0.468																																					p.V517V		Atlas-SNP	.											.	KIAA0825	172	.	0			c.G1551T						.						149.0	123.0	131.0					5																	93807341		692	1591	2283	SO:0001819	synonymous_variant	285600	exon9			GGCCTCCACCAAG	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.1551G>T	chr5.hg19:g.93807341C>A		150.0	0.0		173.0	13.0	NM_001145678	O94914|Q6ZNN2	Silent	SNP	ENST00000513200.3	hg19																																																																																				.	.		0.468	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665	
ETF1	2107	hgsc.bcm.edu	37	5	137844500	137844500	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:137844500T>C	ENST00000360541.5	-	10	1310	c.1089A>G	c.(1087-1089)ggA>ggG	p.G363G	ETF1_ENST00000503014.1_Silent_p.G349G|ETF1_ENST00000499810.2_Silent_p.G330G	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	363					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGTTCCTGTCCGGTCTACA	0.438																																					p.G363G		Atlas-SNP	.											.	ETF1	38	.	0			c.A1089G						.						87.0	86.0	87.0					5																	137844500		2203	4300	6503	SO:0001819	synonymous_variant	2107	exon10			TTCCTGTCCGGTC	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1089A>G	chr5.hg19:g.137844500T>C		85.0	0.0		69.0	4.0	NM_004730	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Silent	SNP	ENST00000360541.5	hg19	CCDS4207.1																																																																																			.	.		0.438	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730	
DND1	373863	hgsc.bcm.edu	37	5	140052948	140052948	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:140052948T>C	ENST00000542735.1	-	2	93	c.50A>G	c.(49-51)gAg>gGg	p.E17G	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	17					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTTGTTCTCTGGATTCAC	0.637																																					p.E17G		Atlas-SNP	.											.	DND1	15	.	0			c.A50G						.						58.0	58.0	58.0					5																	140052948		2203	4300	6503	SO:0001583	missense	373863	exon2			TTGTTCTCTGGAT	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.50A>G	chr5.hg19:g.140052948T>C	ENSP00000445366:p.Glu17Gly	91.0	0.0		103.0	5.0	NM_194249		Missense_Mutation	SNP	ENST00000542735.1	hg19	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307720	0.40795	.	.	ENSG00000256453	ENST00000542735	T	0.34275	1.37	4.58	3.34	0.38264	.	0.101126	0.39834	N	0.001254	T	0.21186	0.0510	L	0.33485	1.01	0.80722	D	1	P	0.37466	0.596	B	0.29353	0.101	T	0.04693	-1.0933	10	0.40728	T	0.16	-19.6412	7.7588	0.28940	0.1403:0.0:0.1292:0.7305	.	17	Q8IYX4	DND1_HUMAN	G	17	ENSP00000445366:E17G	ENSP00000445366:E17G	E	-	2	0	DND1	140033132	0.999000	0.42202	0.999000	0.59377	0.966000	0.64601	1.988000	0.40697	1.910000	0.55303	0.379000	0.24179	GAG	.	.		0.637	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249	
PCDHA9	9752	hgsc.bcm.edu	37	5	140389506	140389506	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:140389506A>G	ENST00000532602.1	+	4	3870	c.2837A>G	c.(2836-2838)gAc>gGc	p.D946G	PCDHA10_ENST00000506939.2_Missense_Mutation_p.D681G|PCDHA1_ENST00000394633.3_Missense_Mutation_p.D682G|PCDHA3_ENST00000522353.2_Missense_Mutation_p.D946G|PCDHA6_ENST00000529310.1_Missense_Mutation_p.D946G|PCDHA13_ENST00000289272.2_Missense_Mutation_p.D946G|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.D959G|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Missense_Mutation_p.D945G|PCDHA2_ENST00000526136.1_Missense_Mutation_p.D944G|PCDHA12_ENST00000398631.2_Missense_Mutation_p.D937G|PCDHA8_ENST00000531613.1_Missense_Mutation_p.D946G|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.D1003G|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Missense_Mutation_p.D946G|PCDHA4_ENST00000530339.1_Missense_Mutation_p.D943G|PCDHA5_ENST00000529859.1_Missense_Mutation_p.D932G|PCDHA7_ENST00000525929.1_Missense_Mutation_p.D933G|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D682G|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Missense_Mutation_p.D944G	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	946					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACTGACAACAGTGAC	0.423																																					p.D1003G	Melanoma(55;1800 1972 14909)	Atlas-SNP	.											.	PCDHAC2	142	.	0			c.A3008G						.						106.0	115.0	112.0					5																	140389506		2203	4300	6503	SO:0001583	missense	56134	exon4			CGACTGACAACAG	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2837A>G	chr5.hg19:g.140389506A>G	ENSP00000436042:p.Asp946Gly	73.0	0.0		91.0	4.0	NM_018899	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524892	0.64747	.	.	ENSG00000204970;ENSG00000204970;ENSG00000204969;ENSG00000255408;ENSG00000204967;ENSG00000204965;ENSG00000081842;ENSG00000081842;ENSG00000204963;ENSG00000204962;ENSG00000204961;ENSG00000250120;ENSG00000250120;ENSG00000249158;ENSG00000251664;ENSG00000239389;ENSG00000248383;ENSG00000243232	ENST00000504120;ENST00000394633;ENST00000526136;ENST00000522353;ENST00000530339;ENST00000529859;ENST00000529310;ENST00000527624;ENST00000525929;ENST00000531613;ENST00000532602;ENST00000506939;ENST00000307360;ENST00000398640;ENST00000398631;ENST00000289272;ENST00000253807;ENST00000289269	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.57;0.39;0.6;0.61;0.6;0.59;0.61;0.36;0.54;0.66;0.64;0.36;0.53;0.59;0.62;0.71;0.44;0.64	5.87	5.87	0.94306	.	0.000000	0.35708	N	0.003030	T	0.63343	0.2503	L	0.29908	0.895	0.54753	D	0.999983	D;D;D;D;D;D;D;D;B;P;D;P;D;D;D;D;D;D	0.89917	0.993;1.0;0.989;0.999;0.999;1.0;1.0;1.0;0.19;0.502;0.998;0.708;0.999;0.999;1.0;1.0;1.0;1.0	P;D;P;D;D;D;D;D;B;B;D;B;D;D;D;D;D;D	0.91635	0.859;0.965;0.802;0.954;0.979;0.991;0.984;0.995;0.118;0.134;0.961;0.319;0.964;0.971;0.977;0.985;0.999;0.984	T	0.66763	-0.5841	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	1003;959;946;937;945;944;681;946;946;933;946;682;932;943;946;944;946;682	Q9Y5I4;Q9H158;Q9Y5I0;Q9UN75;Q9Y5I1;Q9Y5I2;Q9Y5I2-2;Q9Y5H5;Q9Y5H6;Q9UN72;Q9UN73;Q9UN73-2;Q9Y5H7;Q9UN74;Q9Y5H8;Q9Y5H9;Q9Y5I3;Q9Y5I3-2	PCDC2_HUMAN;PCDC1_HUMAN;PCDAD_HUMAN;PCDAC_HUMAN;PCDAB_HUMAN;PCDAA_HUMAN;.;PCDA9_HUMAN;PCDA8_HUMAN;PCDA7_HUMAN;PCDA6_HUMAN;.;PCDA5_HUMAN;PCDA4_HUMAN;PCDA3_HUMAN;PCDA2_HUMAN;PCDA1_HUMAN;.	G	946;682;944;946;943;932;946;682;933;946;946;681;944;945;937;946;959;1003	ENSP00000420840:D946G;ENSP00000378129:D682G;ENSP00000431748:D944G;ENSP00000429808:D946G;ENSP00000435300:D943G;ENSP00000436557:D932G;ENSP00000433378:D946G;ENSP00000434113:D682G;ENSP00000436426:D933G;ENSP00000434655:D946G;ENSP00000436042:D946G;ENSP00000421030:D681G;ENSP00000304234:D944G;ENSP00000381636:D945G;ENSP00000381628:D937G;ENSP00000289272:D946G;ENSP00000253807:D959G;ENSP00000289269:D1003G	ENSP00000304234:D944G	D	+	2	0	PCDHA6;PCDHA7;PCDHA8;PCDHA9;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA10;PCDHA11;PCDHA12;PCDHA1;PCDHA13;PCDHAC2;PCDHAC1	140369690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.163000	0.89659	2.371000	0.80710	0.533000	0.62120	GAC	.	.		0.423	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHB15	56121	hgsc.bcm.edu	37	5	140626124	140626124	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:140626124A>G	ENST00000231173.3	+	1	978	c.978A>G	c.(976-978)ggA>ggG	p.G326G		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGCGGGGGACTTTCTGGAA	0.408																																					p.G326G		Atlas-SNP	.											.	PCDHB15	138	.	0			c.A978G						.						139.0	142.0	141.0					5																	140626124		2203	4300	6503	SO:0001819	synonymous_variant	56121	exon1			CGGGGGACTTTCT	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.978A>G	chr5.hg19:g.140626124A>G		210.0	0.0		207.0	9.0	NM_018935	Q8IUX5	Silent	SNP	ENST00000231173.3	hg19	CCDS4257.1																																																																																			.	.		0.408	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
PCDHGB3	56102	hgsc.bcm.edu	37	5	140750296	140750296	+	Missense_Mutation	SNP	A	A	G	rs73265845	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:140750296A>G	ENST00000576222.1	+	1	466	c.335A>G	c.(334-336)aAg>aGg	p.K112R	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGCTGAAAAGCCTTTAAAC	0.438																																					p.K112R		Atlas-SNP	.											.	PCDHGB3	168	.	0			c.A335G						.						131.0	134.0	133.0					5																	140750296		1880	4115	5995	SO:0001583	missense	56102	exon1			CTGAAAAGCCTTT	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.335A>G	chr5.hg19:g.140750296A>G	ENSP00000461862:p.Lys112Arg	66.0	0.0		68.0	4.0	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	hg19	CCDS58980.1																																																																																			.	A|0.993;T|0.007		0.438	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGB3	56102	hgsc.bcm.edu	37	5	140750845	140750845	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:140750845A>G	ENST00000576222.1	+	1	1015	c.884A>G	c.(883-885)gAc>gGc	p.D295G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	295	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGCTGGACAGTAAAACG	0.448																																					p.D295G		Atlas-SNP	.											.	PCDHGB3	168	.	0			c.A884G						.						143.0	145.0	144.0					5																	140750845		2000	4177	6177	SO:0001583	missense	56102	exon1			AGCTGGACAGTAA	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.884A>G	chr5.hg19:g.140750845A>G	ENSP00000461862:p.Asp295Gly	85.0	0.0		98.0	32.0	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	hg19	CCDS58980.1																																																																																			.	.		0.448	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
WWC1	23286	hgsc.bcm.edu	37	5	167881041	167881041	+	Missense_Mutation	SNP	A	A	G	rs140933524		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:167881041A>G	ENST00000265293.4	+	18	3096	c.2594A>G	c.(2593-2595)gAg>gGg	p.E865G	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.E865G	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	865	Glu-rich.|Interaction with histone H3.			Missing (in Ref. 6; AAO73817). {ECO:0000305}.	cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		gaggaggaggagggagaagag	0.547																																					p.E865G		Atlas-SNP	.											.	WWC1	98	.	0			c.A2594G						.						116.0	106.0	109.0					5																	167881041		2203	4300	6503	SO:0001583	missense	23286	exon18			AGGAGGAGGGAGA	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2594A>G	chr5.hg19:g.167881041A>G	ENSP00000265293:p.Glu865Gly	167.0	0.0		151.0	12.0	NM_015238	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	A	9.968	1.224627	0.22457	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.55413	0.52;0.52;0.52	4.64	3.47	0.39725	.	1.031930	0.07651	N	0.932040	T	0.31857	0.0810	N	0.08118	0	0.39367	D	0.966026	B;B	0.20988	0.05;0.03	B;B	0.21151	0.033;0.033	T	0.09335	-1.0679	10	0.24483	T	0.36	.	7.2113	0.25935	0.8962:0.0:0.1038:0.0	.	865;865	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	G	865;865;191	ENSP00000265293:E865G;ENSP00000427772:E865G;ENSP00000428084:E191G	ENSP00000265293:E865G	E	+	2	0	WWC1	167813619	0.711000	0.27906	0.201000	0.23476	0.005000	0.04900	0.857000	0.27831	0.748000	0.32831	-0.276000	0.10085	GAG	.	.		0.547	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
STK10	6793	hgsc.bcm.edu	37	5	171509502	171509502	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:171509502T>C	ENST00000176763.5	-	12	2160	c.1817A>G	c.(1816-1818)aAg>aGg	p.K606R	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	606					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAAGAACTTCTTCTTGGCCTG	0.522																																					p.K606R		Atlas-SNP	.											.	STK10	100	.	0			c.A1817G						.						69.0	67.0	68.0					5																	171509502		2203	4300	6503	SO:0001583	missense	6793	exon12			AACTTCTTCTTGG	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1817A>G	chr5.hg19:g.171509502T>C	ENSP00000176763:p.Lys606Arg	88.0	0.0		100.0	4.0	NM_005990	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	hg19	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433464	0.43224	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.30981	1.51	5.11	5.11	0.69529	.	0.058352	0.64402	D	0.000002	T	0.38321	0.1036	L	0.52206	1.635	0.41599	D	0.988849	P	0.38455	0.632	P	0.50825	0.651	T	0.24048	-1.0171	10	0.40728	T	0.16	.	7.6222	0.28191	0.0:0.0946:0.0:0.9054	.	606	O94804	STK10_HUMAN	R	606	ENSP00000176763:K606R	ENSP00000176763:K606R	K	-	2	0	STK10	171442107	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	5.118000	0.64673	1.932000	0.55993	0.533000	0.62120	AAG	.	.		0.522	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
TRIM7	81786	hgsc.bcm.edu	37	5	180622632	180622632	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr5:180622632A>G	ENST00000274773.7	-	7	1131	c.1070T>C	c.(1069-1071)cTc>cCc	p.L357P	CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.L175P|TRIM7_ENST00000393315.1_Missense_Mutation_p.L149P|TRIM7_ENST00000422067.2_Missense_Mutation_p.L149P|TRIM7_ENST00000361809.3_Missense_Mutation_p.L149P|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.5_ENST00000514487.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ATCCAGAGAGAGGATGAGGCG	0.672																																					p.L357P	Esophageal Squamous(128;2258 2308 35507 48647)	Atlas-SNP	.											.	TRIM7	56	.	0			c.T1070C						.						46.0	52.0	50.0					5																	180622632		2179	4226	6405	SO:0001583	missense	81786	exon7			AGAGAGAGGATGA	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1070T>C	chr5.hg19:g.180622632A>G	ENSP00000274773:p.Leu357Pro	114.0	0.0		121.0	5.0	NM_203293	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	hg19	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.028853	0.54790	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	4.57	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (2);B30.2/SPRY domain (1);	0.000000	0.44902	D	0.000414	T	0.62429	0.2427	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74160	-0.3755	10	0.87932	D	0	.	11.9119	0.52743	1.0:0.0:0.0:0.0	.	357;175	Q9C029;Q9C029-4	TRIM7_HUMAN;.	P	357;149;149;175;149	ENSP00000274773:L357P;ENSP00000376991:L149P;ENSP00000355059:L149P;ENSP00000376994:L175P;ENSP00000391458:L149P	ENSP00000274773:L357P	L	-	2	0	TRIM7	180555238	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	6.373000	0.73128	1.693000	0.51124	0.448000	0.29417	CTC	.	.		0.672	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296	
RIOK1	83732	hgsc.bcm.edu	37	6	7405539	7405539	+	Missense_Mutation	SNP	T	T	C	rs373917793		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:7405539T>C	ENST00000379834.2	+	12	1661	c.1154T>C	c.(1153-1155)gTc>gCc	p.V385A		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	385	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TTTGAATTTGTCACAGATCCA	0.418																																					p.V385A		Atlas-SNP	.											.	RIOK1	36	.	0			c.T1154C						.	T	ALA/VAL,ALA/VAL	0,4406		0,0,2203	97.0	82.0	87.0		1154,431	5.6	1.0	6		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RIOK1	NM_031480.2,NM_153005.1	64,64	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	385/569,144/328	7405539	1,13005	2203	4300	6503	SO:0001583	missense	83732	exon12			AATTTGTCACAGA	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1154T>C	chr6.hg19:g.7405539T>C	ENSP00000369162:p.Val385Ala	93.0	0.0		100.0	4.0	NM_031480	B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	hg19	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182120	0.78677	0.0	1.16E-4	ENSG00000124784	ENST00000379834	T	0.08720	3.06	5.57	5.57	0.84162	RIO kinase (1);	0.155205	0.53938	D	0.000041	T	0.12008	0.0292	M	0.86420	2.815	0.51767	D	0.999936	B	0.27910	0.193	B	0.35899	0.213	T	0.00785	-1.1567	10	0.87932	D	0	-15.8581	14.9078	0.70733	0.0:0.0:0.0:1.0	.	385	Q9BRS2	RIOK1_HUMAN	A	385	ENSP00000369162:V385A	ENSP00000369162:V385A	V	+	2	0	RIOK1	7350538	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.369000	0.79578	2.114000	0.64651	0.455000	0.32223	GTC	.	.		0.418	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480	
ACOT13	55856	hgsc.bcm.edu	37	6	24698153	24698153	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:24698153A>G	ENST00000230048.4	+	2	317	c.124A>G	c.(124-126)Atg>Gtg	p.M42V	ACOT13_ENST00000537591.1_Missense_Mutation_p.M19V|ACOT13_ENST00000476436.1_3'UTR|RP1-30M3.5_ENST00000607014.1_RNA	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	42					metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						GATTTGTGAAATGAAAGTAGA	0.388																																					p.M42V		Atlas-SNP	.											.	ACOT13	12	.	0			c.A124G						.						106.0	98.0	100.0					6																	24698153		2203	4300	6503	SO:0001583	missense	55856	exon2			TGTGAAATGAAAG	AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"""Acyl CoA thioesterases"""	20999	protein-coding gene	gene with protein product		615652	"""thioesterase superfamily member 2"""	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.124A>G	chr6.hg19:g.24698153A>G	ENSP00000230048:p.Met42Val	103.0	0.0		90.0	34.0	NM_018473	F5H2L4|O95549	Missense_Mutation	SNP	ENST00000230048.4	hg19	CCDS4558.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281601	0.40394	.	.	ENSG00000112304	ENST00000537591;ENST00000230048	.	.	.	5.03	1.13	0.20643	Phenylacetic acid degradation-related protein (1);	0.185780	0.56097	D	0.000027	T	0.28267	0.0698	M	0.62016	1.91	0.40470	D	0.980332	B;B	0.31241	0.315;0.15	B;B	0.28638	0.092;0.018	T	0.06023	-1.0850	9	0.35671	T	0.21	-19.9186	4.2242	0.10572	0.4079:0.4044:0.0701:0.1175	.	19;42	F5H2L4;Q9NPJ3	.;ACO13_HUMAN	V	19;42	.	ENSP00000230048:M42V	M	+	1	0	ACOT13	24806132	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.010000	0.40913	0.036000	0.15547	0.533000	0.62120	ATG	.	.		0.388	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040010.2	NM_018473	
PPP1R18	170954	hgsc.bcm.edu	37	6	30653159	30653159	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:30653159T>C	ENST00000274853.3	-	1	2513	c.637A>G	c.(637-639)Agc>Ggc	p.S213G	PPP1R18_ENST00000399199.3_Missense_Mutation_p.S213G|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	213						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CTCCTGGGGCTTTGCTCTCGA	0.562																																					p.S213G		Atlas-SNP	.											.	.	.	.	0			c.A637G						.						249.0	266.0	260.0					6																	30653159		1193	2530	3723	SO:0001583	missense	170954	exon2			TGGGGCTTTGCTC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.637A>G	chr6.hg19:g.30653159T>C	ENSP00000274853:p.Ser213Gly	114.0	0.0		115.0	5.0	NM_001134870	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	hg19	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711881	0.30322	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	T;T	0.27557	1.66;1.66	5.66	4.5	0.54988	.	0.171323	0.36134	N	0.002761	T	0.08626	0.0214	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.17899	-1.0354	10	0.54805	T	0.06	-11.7841	7.0933	0.25295	0.0:0.0782:0.1483:0.7734	.	213	Q6NYC8	PPR18_HUMAN	G	213	ENSP00000274853:S213G;ENSP00000382150:S213G	ENSP00000274853:S213G	S	-	1	0	KIAA1949	30761138	0.948000	0.32251	0.905000	0.35620	0.497000	0.33675	2.788000	0.47806	0.979000	0.38497	0.533000	0.62120	AGC	.	.		0.562	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471	
EHMT2	10919	hgsc.bcm.edu	37	6	31847967	31847967	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:31847967T>C	ENST00000375537.4	-	28	3533	c.3527A>G	c.(3526-3528)aAg>aGg	p.K1176R	SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.K1233R|EHMT2_ENST00000375530.4_Missense_Mutation_p.K1142R|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.K1199R	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1176	Post-SET.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGCTGAGTGCTTGCACTTCTC	0.587																																					p.K1176R		Atlas-SNP	.											.	EHMT2	45	.	0			c.A3527G						.						63.0	57.0	59.0					6																	31847967		1511	2708	4219	SO:0001583	missense	10919	exon28			GAGTGCTTGCACT	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3527A>G	chr6.hg19:g.31847967T>C	ENSP00000364687:p.Lys1176Arg	107.0	0.0		119.0	5.0	NM_006709	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	hg19	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313461	0.40996	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.64260	-0.05;-0.09;-0.03;-0.05	4.75	4.75	0.60458	Post-SET domain (1);	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	N	0.01751	-0.74	0.80722	D	1	B;B;B;B	0.23891	0.003;0.033;0.093;0.019	B;B;B;B	0.26969	0.009;0.042;0.075;0.023	T	0.21314	-1.0249	10	0.07813	T	0.8	.	13.5594	0.61779	0.0:0.0:0.0:1.0	.	1199;1142;1176;997	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	R	1233;1199;1142;1176;997	ENSP00000379078:K1233R;ENSP00000364678:K1199R;ENSP00000364680:K1142R;ENSP00000364687:K1176R	ENSP00000364678:K1199R	K	-	2	0	EHMT2	31955946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.472000	0.80996	1.915000	0.55452	0.459000	0.35465	AAG	.	.		0.587	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
SLC39A7	7922	hgsc.bcm.edu	37	6	33169120	33169120	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:33169120A>G	ENST00000374677.3	+	1	471	c.98A>G	c.(97-99)gAc>gGc	p.D33G	SLC39A7_ENST00000374675.3_Missense_Mutation_p.D33G|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	33	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGTCATGACGACCTGCACGAC	0.647																																					p.D33G		Atlas-SNP	.											.	SLC39A7	32	.	0			c.A98G						.						63.0	71.0	68.0					6																	33169120		2117	4237	6354	SO:0001583	missense	7922	exon1			ATGACGACCTGCA	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.98A>G	chr6.hg19:g.33169120A>G	ENSP00000363809:p.Asp33Gly	113.0	0.0		132.0	6.0	NM_006979	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	hg19	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.731053	0.48939	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.59906	0.23;0.23	4.3	4.3	0.51218	.	0.795685	0.11695	N	0.538527	T	0.33089	0.0851	N	0.24115	0.695	0.32460	N	0.544196	P	0.51791	0.948	P	0.45610	0.487	T	0.21075	-1.0256	10	0.72032	D	0.01	-4.2727	9.828	0.40923	1.0:0.0:0.0:0.0	.	33	Q92504	S39A7_HUMAN	G	33	ENSP00000363807:D33G;ENSP00000363809:D33G	ENSP00000363807:D33G	D	+	2	0	SLC39A7	33277098	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	2.838000	0.48199	1.828000	0.53243	0.241000	0.17934	GAC	.	.		0.647	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	
CUL9	23113	hgsc.bcm.edu	37	6	43153709	43153709	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:43153709T>C	ENST00000252050.4	+	4	851	c.767T>C	c.(766-768)cTt>cCt	p.L256P	CUL9_ENST00000372647.2_Missense_Mutation_p.L256P|CUL9_ENST00000354495.3_Missense_Mutation_p.L256P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	256					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGAAAGCTGCTTTTCTCCTTG	0.527																																					p.L256P		Atlas-SNP	.											.	CUL9	248	.	0			c.T767C						.						60.0	58.0	59.0					6																	43153709		2203	4300	6503	SO:0001583	missense	23113	exon4			AGCTGCTTTTCTC	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.767T>C	chr6.hg19:g.43153709T>C	ENSP00000252050:p.Leu256Pro	96.0	0.0		111.0	6.0	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	hg19	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946699	0.34377	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.44482	0.92;0.92;0.92	4.59	4.59	0.56863	.	0.149506	0.46442	D	0.000285	T	0.55242	0.1908	M	0.71036	2.16	0.47123	D	0.999327	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.942;0.942;0.999	T	0.62263	-0.6891	10	0.87932	D	0	-20.1468	14.1283	0.65235	0.0:0.0:0.0:1.0	.	256;256;256	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	P	256	ENSP00000252050:L256P;ENSP00000346490:L256P;ENSP00000361730:L256P	ENSP00000252050:L256P	L	+	2	0	CUL9	43261687	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.730000	0.62015	1.938000	0.56188	0.379000	0.24179	CTT	.	.		0.527	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
TTBK1	84630	hgsc.bcm.edu	37	6	43250734	43250734	+	Silent	SNP	A	A	G	rs368934924		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:43250734A>G	ENST00000259750.4	+	14	2339	c.2256A>G	c.(2254-2256)gaA>gaG	p.E752E		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	752	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			aggaagaagaagaggaggaag	0.582																																					p.E752E		Atlas-SNP	.											.	TTBK1	124	.	0			c.A2256G						.						16.0	16.0	16.0					6																	43250734		2202	4297	6499	SO:0001819	synonymous_variant	84630	exon14			AGAAGAAGAGGAG	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2256A>G	chr6.hg19:g.43250734A>G		59.0	0.0		77.0	5.0	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	hg19	CCDS34455.1																																																																																			.	.		0.582	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
PKHD1	5314	hgsc.bcm.edu	37	6	51524434	51524434	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:51524434G>A	ENST00000371117.3	-	61	10765	c.10490C>T	c.(10489-10491)gCt>gTt	p.A3497V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3497					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTAGAATACAGCCAAGAGAAG	0.453																																					p.A3497V		Atlas-SNP	.											PKHD1,rectum,carcinoma,0,1	PKHD1	927	.	0			c.C10490T						.						64.0	65.0	65.0					6																	51524434		2203	4300	6503	SO:0001583	missense	5314	exon61			AATACAGCCAAGA	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10490C>T	chr6.hg19:g.51524434G>A	ENSP00000360158:p.Ala3497Val	97.0	0.0		84.0	4.0	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636101	0.67130	.	.	ENSG00000170927	ENST00000371117	D	0.86432	-2.12	5.72	5.72	0.89469	.	0.158779	0.42821	D	0.000641	D	0.88142	0.6357	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	D	0.89460	0.3736	10	0.87932	D	0	.	18.8671	0.92296	0.0:0.0:1.0:0.0	.	3497	P08F94	PKHD1_HUMAN	V	3497	ENSP00000360158:A3497V	ENSP00000360158:A3497V	A	-	2	0	PKHD1	51632393	0.901000	0.30685	0.966000	0.40874	0.945000	0.59286	3.822000	0.55708	2.695000	0.91970	0.655000	0.94253	GCT	.	.		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
OGFRL1	79627	hgsc.bcm.edu	37	6	72003034	72003034	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:72003034A>G	ENST00000370435.4	+	2	407	c.273A>G	c.(271-273)agA>agG	p.R91R	RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587253.1_RNA|OGFRL1_ENST00000467503.1_3'UTR|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	91						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						AACCAAAGAGAAGTTTTTATG	0.373																																					p.R91R		Atlas-SNP	.											.	OGFRL1	44	.	0			c.A273G						.						116.0	119.0	118.0					6																	72003034		2203	4300	6503	SO:0001819	synonymous_variant	79627	exon2			AAAGAGAAGTTTT		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.273A>G	chr6.hg19:g.72003034A>G		127.0	0.0		143.0	22.0	NM_024576	Q2TAC1|Q8NEQ4|Q9H7B5	Silent	SNP	ENST00000370435.4	hg19	CCDS34482.1																																																																																			.	.		0.373	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576	
CD109	135228	hgsc.bcm.edu	37	6	74516714	74516714	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:74516714T>C	ENST00000287097.5	+	25	3220	c.3108T>C	c.(3106-3108)agT>agC	p.S1036S	CD109_ENST00000422508.2_Silent_p.S959S|CD109_ENST00000437994.2_Silent_p.S1036S			Q6YHK3	CD109_HUMAN	CD109 molecule	1036					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGATTCATAGTGAGCTTCAAG	0.363																																					p.S1036S		Atlas-SNP	.											.	CD109	170	.	0			c.T3108C						.						103.0	99.0	101.0					6																	74516714		2203	4300	6503	SO:0001819	synonymous_variant	135228	exon25			TCATAGTGAGCTT	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3108T>C	chr6.hg19:g.74516714T>C		102.0	0.0		67.0	4.0	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	hg19	CCDS4982.1																																																																																			.	.		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
FILIP1	27145	hgsc.bcm.edu	37	6	76022124	76022124	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:76022124T>C	ENST00000237172.7	-	5	3754	c.3424A>G	c.(3424-3426)Acc>Gcc	p.T1142A	FILIP1_ENST00000393004.2_Missense_Mutation_p.T1142A|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T1043A	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1142										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						ACTGACTGGGTTCCTCGAGCA	0.572																																					p.T1142A		Atlas-SNP	.											.	FILIP1	173	.	0			c.A3424G						.						144.0	131.0	135.0					6																	76022124		2203	4300	6503	SO:0001583	missense	27145	exon5			ACTGGGTTCCTCG	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.3424A>G	chr6.hg19:g.76022124T>C	ENSP00000237172:p.Thr1142Ala	76.0	0.0		47.0	5.0	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463112	0.63513	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20332	2.09;2.08;2.09	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	L	0.59436	1.845	0.54753	D	0.999986	D;P;P	0.54397	0.966;0.91;0.946	P;B;P	0.48598	0.583;0.294;0.488	T	0.05289	-1.0894	10	0.09843	T	0.71	-15.3761	16.0766	0.80971	0.0:0.0:0.0:1.0	.	1142;1142;1142	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	A	1142;1142;1043	ENSP00000376728:T1142A;ENSP00000237172:T1142A;ENSP00000359037:T1043A	ENSP00000237172:T1142A	T	-	1	0	FILIP1	76078844	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.838000	0.55828	2.202000	0.70862	0.533000	0.62120	ACC	.	.		0.572	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
ELOVL4	6785	hgsc.bcm.edu	37	6	80635991	80635991	+	Silent	SNP	G	G	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:80635991G>T	ENST00000369816.4	-	2	508	c.208C>A	c.(208-210)Cga>Aga	p.R70R		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	70					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.R70G(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AAAGGTTCTCGGTCCTTCATC	0.408																																					p.R70R		Atlas-SNP	.											ELOVL4,NS,carcinoma,0,1	ELOVL4	46	.	1	Substitution - Missense(1)	prostate(1)	c.C208A						.						89.0	77.0	81.0					6																	80635991		2203	4300	6503	SO:0001819	synonymous_variant	6785	exon2			GTTCTCGGTCCTT	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.208C>A	chr6.hg19:g.80635991G>T		66.0	0.0		45.0	2.0	NM_022726	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Silent	SNP	ENST00000369816.4	hg19	CCDS4992.1																																																																																			.	.		0.408	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1		
SMIM8	57150	hgsc.bcm.edu	37	6	88046871	88046871	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:88046871T>C	ENST00000392863.1	+	3	211	c.122T>C	c.(121-123)cTc>cCc	p.L41P	RP1-102H19.8_ENST00000448282.2_Missense_Mutation_p.L41P|SMIM8_ENST00000608525.1_Missense_Mutation_p.L41P|SMIM8_ENST00000229570.5_Missense_Mutation_p.L41P|SMIM8_ENST00000608868.1_Missense_Mutation_p.L41P|SMIM8_ENST00000608353.1_Missense_Mutation_p.L41P	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	41						integral component of membrane (GO:0016021)		p.L41P(1)									AATCCAGAGCTCTTCATTAAA	0.393																																					p.L41P		Atlas-SNP	.											C6orf162,NS,carcinoma,0,1	.	.	.	1	Substitution - Missense(1)	kidney(1)	c.T122C						.						101.0	103.0	103.0					6																	88046871		2203	4300	6503	SO:0001583	missense	57150	exon3			CAGAGCTCTTCAT	AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 162"""	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.122T>C	chr6.hg19:g.88046871T>C	ENSP00000376603:p.Leu41Pro	88.0	0.0		41.0	3.0	NM_001042493	B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	ENST00000392863.1	hg19	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557036	0.86231	.	.	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80837	-0.1204	8	0.87932	D	0	-8.2011	16.3453	0.83126	0.0:0.0:0.0:1.0	.	41	Q96KF7	CF162_HUMAN	P	41	.	ENSP00000229570:L41P	L	+	2	0	C6orf162	88103590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.914000	0.75764	2.261000	0.74972	0.533000	0.62120	CTC	.	.		0.393	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2	NM_020425	
MDN1	23195	hgsc.bcm.edu	37	6	90440507	90440507	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:90440507T>C	ENST00000369393.3	-	35	5193	c.5078A>G	c.(5077-5079)aAg>aGg	p.K1693R	MDN1_ENST00000428876.1_Missense_Mutation_p.K1693R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1693					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTTTGGCCTTCATTCTGTC	0.323																																					p.K1693R		Atlas-SNP	.											.	MDN1	478	.	0			c.A5078G						.						105.0	97.0	100.0					6																	90440507		2203	4300	6503	SO:0001583	missense	23195	exon35			TTGGCCTTCATTC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5078A>G	chr6.hg19:g.90440507T>C	ENSP00000358400:p.Lys1693Arg	142.0	0.0		86.0	4.0	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	9.734	1.162964	0.21538	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03242	4.0;4.0	5.62	4.42	0.53409	.	0.260616	0.38663	N	0.001604	T	0.00784	0.0026	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.48896	-0.8994	10	0.13108	T	0.6	.	5.9008	0.18965	0.0:0.144:0.1399:0.7161	.	1693	Q9NU22	MDN1_HUMAN	R	1693	ENSP00000358400:K1693R;ENSP00000413970:K1693R	ENSP00000358400:K1693R	K	-	2	0	MDN1	90497228	0.971000	0.33674	0.954000	0.39281	0.964000	0.63967	1.837000	0.39201	0.912000	0.36772	0.477000	0.44152	AAG	.	.		0.323	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	hgsc.bcm.edu	37	6	90461216	90461216	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:90461216T>C	ENST00000369393.3	-	23	3276	c.3161A>G	c.(3160-3162)gAg>gGg	p.E1054G	MDN1_ENST00000428876.1_Missense_Mutation_p.E1054G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1054					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATGTACGTCTCATCTATTGT	0.498																																					p.E1054G		Atlas-SNP	.											.	MDN1	478	.	0			c.A3161G						.						157.0	135.0	142.0					6																	90461216		2203	4300	6503	SO:0001583	missense	23195	exon23			TACGTCTCATCTA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3161A>G	chr6.hg19:g.90461216T>C	ENSP00000358400:p.Glu1054Gly	164.0	0.0		109.0	5.0	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.829792	0.50845	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.42900	0.96;0.96;0.96	5.71	5.71	0.89125	.	0.185062	0.47852	D	0.000213	T	0.24431	0.0592	L	0.46819	1.47	0.41553	D	0.988584	B;B	0.25390	0.041;0.125	B;B	0.24394	0.017;0.053	T	0.05599	-1.0875	10	0.32370	T	0.25	.	15.9883	0.80179	0.0:0.0:0.0:1.0	.	981;1054	Q5T795;Q9NU22	.;MDN1_HUMAN	G	1054;1054;981	ENSP00000358400:E1054G;ENSP00000413970:E1054G;ENSP00000409664:E981G	ENSP00000358400:E1054G	E	-	2	0	MDN1	90517937	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	5.020000	0.64066	2.172000	0.68678	0.533000	0.62120	GAG	.	.		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
CDC40	51362	hgsc.bcm.edu	37	6	110540651	110540651	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:110540651T>C	ENST00000368932.1	+	12	1276	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	CDC40_ENST00000307731.1_Missense_Mutation_p.V392A|CDC40_ENST00000368930.1_Missense_Mutation_p.V392A			O60508	PRP17_HUMAN	cell division cycle 40	392					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AATCTCTTTGTGGCTGGGATG	0.343																																					p.V392A		Atlas-SNP	.											.	CDC40	39	.	0			c.T1175C						.						127.0	124.0	125.0					6																	110540651		2203	4300	6503	SO:0001583	missense	51362	exon11			TCTTTGTGGCTGG	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1175T>C	chr6.hg19:g.110540651T>C	ENSP00000357928:p.Val392Ala	114.0	0.0		86.0	4.0	NM_015891	B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	hg19	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	T	31	5.085433	0.94100	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.85859	2.78	0.80722	D	1	P	0.48294	0.908	P	0.58620	0.842	D	0.84033	0.0360	10	0.15066	T	0.55	-11.2631	16.1773	0.81862	0.0:0.0:0.0:1.0	.	392	O60508	PRP17_HUMAN	A	392	ENSP00000357928:V392A;ENSP00000357929:V392A;ENSP00000357926:V392A;ENSP00000304370:V392A	ENSP00000304370:V392A	V	+	2	0	CDC40	110647344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.217000	0.71921	0.482000	0.46254	GTG	.	.		0.343	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891	
CDC40	51362	hgsc.bcm.edu	37	6	110540992	110540992	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:110540992T>C	ENST00000368932.1	+	13	1361	c.1260T>C	c.(1258-1260)gcT>gcC	p.A420A	CDC40_ENST00000307731.1_Silent_p.A420A|CDC40_ENST00000368930.1_Silent_p.A420A			O60508	PRP17_HUMAN	cell division cycle 40	420					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATTTGGGAGCTGTCAACACCA	0.408																																					p.A420A		Atlas-SNP	.											.	CDC40	39	.	0			c.T1260C						.						209.0	188.0	195.0					6																	110540992		2203	4300	6503	SO:0001819	synonymous_variant	51362	exon12			GGGAGCTGTCAAC	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1260T>C	chr6.hg19:g.110540992T>C		181.0	0.0		106.0	5.0	NM_015891	B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	ENST00000368932.1	hg19	CCDS5081.1																																																																																			.	.		0.408	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891	
UTRN	7402	hgsc.bcm.edu	37	6	144801024	144801024	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:144801024A>G	ENST00000367545.3	+	25	3413	c.3413A>G	c.(3412-3414)cAg>cGg	p.Q1138R		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1138					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGAGATGCAGGAATGGATG	0.468																																					p.Q1138R		Atlas-SNP	.											.	UTRN	327	.	0			c.A3413G						.						112.0	113.0	113.0					6																	144801024		2203	4300	6503	SO:0001583	missense	7402	exon25			AGATGCAGGAATG	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3413A>G	chr6.hg19:g.144801024A>G	ENSP00000356515:p.Gln1138Arg	55.0	0.0		50.0	5.0	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	hg19	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093745	0.76870	.	.	ENSG00000152818	ENST00000367545	T	0.50548	0.74	5.95	5.95	0.96441	.	0.000000	0.49916	D	0.000124	T	0.47192	0.1432	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.48186	-0.9057	10	0.39692	T	0.17	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1138	P46939	UTRO_HUMAN	R	1138	ENSP00000356515:Q1138R	ENSP00000356515:Q1138R	Q	+	2	0	UTRN	144842717	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.219000	0.78000	2.279000	0.76181	0.533000	0.62120	CAG	.	.		0.468	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
STXBP5	134957	hgsc.bcm.edu	37	6	147680286	147680286	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:147680286G>T	ENST00000321680.6	+	23	2372	c.2372G>T	c.(2371-2373)cGa>cTa	p.R791L	STXBP5_ENST00000367480.3_Missense_Mutation_p.R738L|STXBP5_ENST00000179882.6_Missense_Mutation_p.R446L|STXBP5_ENST00000367481.3_Missense_Mutation_p.R755L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	791					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAAGAATCCCGAGAAGCGATC	0.443																																					p.R791L		Atlas-SNP	.											.	STXBP5	163	.	0			c.G2372T						.						94.0	93.0	93.0					6																	147680286		2203	4300	6503	SO:0001583	missense	134957	exon23			AATCCCGAGAAGC	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2372G>T	chr6.hg19:g.147680286G>T	ENSP00000321826:p.Arg791Leu	92.0	0.0		58.0	24.0	NM_001127715	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280085	0.59758	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.994;0.992;0.991	T	0.15292	-1.0442	10	0.49607	T	0.09	.	19.3349	0.94312	0.0:0.0:1.0:0.0	.	755;791;446	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	L	130;755;791;738;446;115	ENSP00000356451:R755L;ENSP00000321826:R791L;ENSP00000356450:R738L;ENSP00000179882:R446L;ENSP00000376112:R115L	ENSP00000179882:R446L	R	+	2	0	STXBP5	147721979	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	9.476000	0.97823	2.570000	0.86706	0.655000	0.94253	CGA	.	.		0.443	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
EZR	7430	hgsc.bcm.edu	37	6	159190397	159190397	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:159190397C>T	ENST00000367075.3	-	12	1473	c.1305G>A	c.(1303-1305)cgG>cgA	p.R435R	EZR_ENST00000337147.7_Silent_p.R435R|EZR_ENST00000392177.4_Silent_p.R403R	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	435	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CCTTGCGCCTCCGCGCCTCTT	0.592			T	ROS1	NSCLC																																p.R435R		Atlas-SNP	.		Dom	yes		6	6q25.3	7430	ezrin		E	.	EZR	44	.	0			c.G1305A						.						82.0	70.0	74.0					6																	159190397		2203	4300	6503	SO:0001819	synonymous_variant	7430	exon11			GCGCCTCCGCGCC	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1305G>A	chr6.hg19:g.159190397C>T		45.0	0.0		34.0	4.0	NM_003379	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	hg19	CCDS5258.1																																																																																			.	.		0.592	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	
MAP3K4	4216	hgsc.bcm.edu	37	6	161455479	161455479	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:161455479A>G	ENST00000392142.4	+	2	489	c.341A>G	c.(340-342)aAa>aGa	p.K114R	MAP3K4_ENST00000348824.7_Missense_Mutation_p.K114R|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K114R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K114R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	114					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTAATTTGAAAGGTGAGTCT	0.413																																					p.K114R		Atlas-SNP	.											.	MAP3K4	364	.	0			c.A341G						.						50.0	54.0	53.0					6																	161455479		2203	4300	6503	SO:0001583	missense	4216	exon2			ATTTGAAAGGTGA	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.341A>G	chr6.hg19:g.161455479A>G	ENSP00000375986:p.Lys114Arg	104.0	0.0		67.0	4.0	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	hg19	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316897	0.81469	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824;ENST00000544209;ENST00000448119	T;T;T;T	0.75260	-0.9;-0.92;-0.91;-0.9	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.43152	1.355	0.39588	D	0.969533	P;P	0.44627	0.804;0.839	B;B	0.41571	0.36;0.276	T	0.60757	-0.7200	10	0.28530	T	0.3	-35.8541	16.1616	0.81721	1.0:0.0:0.0:0.0	.	114;114	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	R	114;114;114;114;114;93;23	ENSP00000355886:K114R;ENSP00000375986:K114R;ENSP00000355887:K114R;ENSP00000297332:K114R	ENSP00000297332:K114R	K	+	2	0	MAP3K4	161375469	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.975000	0.56859	2.275000	0.75901	0.529000	0.55759	AAA	.	.		0.413	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
PSMB1	5689	hgsc.bcm.edu	37	6	170844336	170844336	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr6:170844336T>C	ENST00000262193.6	-	6	796	c.698A>G	c.(697-699)gAg>gGg	p.E233G	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	233					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)|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)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	AACAGTTTCCTCCCTGATGCC	0.478																																					p.E233G		Atlas-SNP	.											.	PSMB1	12	.	0			c.A698G						.						233.0	204.0	214.0					6																	170844336		2203	4300	6503	SO:0001583	missense	5689	exon6			GTTTCCTCCCTGA	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.698A>G	chr6.hg19:g.170844336T>C	ENSP00000262193:p.Glu233Gly	252.0	0.0		147.0	6.0	NM_002793	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	hg19	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459199	0.63401	.	.	ENSG00000008018	ENST00000262193	T	0.44083	0.93	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	M	0.93854	3.465	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.54323	-0.8311	10	0.51188	T	0.08	-34.1252	16.3322	0.83039	0.0:0.0:0.0:1.0	.	233	P20618	PSB1_HUMAN	G	233	ENSP00000262193:E233G	ENSP00000262193:E233G	E	-	2	0	PSMB1	170686261	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.238000	0.78173	2.251000	0.74343	0.528000	0.53228	GAG	.	.		0.478	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793	
TNRC18	84629	hgsc.bcm.edu	37	7	5396833	5396833	+	Silent	SNP	G	G	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:5396833G>T	ENST00000430969.1	-	16	5256	c.4908C>A	c.(4906-4908)ctC>ctA	p.L1636L	TNRC18_ENST00000399537.4_Silent_p.L1636L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1636							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTGCTTGGTGAGGGAGAGGG	0.552																																					p.L1636L		Atlas-SNP	.											.	TNRC18	311	.	0			c.C4908A						.						48.0	48.0	48.0					7																	5396833		2027	4185	6212	SO:0001819	synonymous_variant	84629	exon16			CTTGGTGAGGGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4908C>A	chr7.hg19:g.5396833G>T		118.0	0.0		93.0	4.0	NM_001080495	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	hg19	CCDS47534.1																																																																																			.	.		0.552	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ANKMY2	57037	hgsc.bcm.edu	37	7	16640522	16640522	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:16640522T>A	ENST00000306999.2	-	10	1433	c.1190A>T	c.(1189-1191)gAg>gTg	p.E397V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	397						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TACTTCAGCCTCTGGTTGCTC	0.403																																					p.E397V		Atlas-SNP	.											.	ANKMY2	46	.	0			c.A1190T						.						100.0	95.0	97.0					7																	16640522		2203	4300	6503	SO:0001583	missense	57037	exon10			TCAGCCTCTGGTT	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1190A>T	chr7.hg19:g.16640522T>A	ENSP00000303570:p.Glu397Val	63.0	0.0		65.0	21.0	NM_020319	A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	hg19	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284409	0.23392	.	.	ENSG00000106524	ENST00000306999	T	0.71579	-0.58	5.4	0.0896	0.14460	.	1.061010	0.07184	N	0.854515	T	0.52533	0.1740	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43196	-0.9406	10	0.66056	D	0.02	0.8445	1.0465	0.01571	0.1526:0.1712:0.1587:0.5175	.	397	Q8IV38	ANKY2_HUMAN	V	397	ENSP00000303570:E397V	ENSP00000303570:E397V	E	-	2	0	ANKMY2	16607047	0.000000	0.05858	0.044000	0.18714	0.617000	0.37484	0.416000	0.21198	-0.144000	0.11314	0.533000	0.62120	GAG	.	.		0.403	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319	
DFNA5	1687	hgsc.bcm.edu	37	7	24749890	24749890	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:24749890G>C	ENST00000342947.3	-	6	1240	c.815C>G	c.(814-816)gCg>gGg	p.A272G	DFNA5_ENST00000409970.1_Missense_Mutation_p.A108G|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.A272G|DFNA5_ENST00000545231.1_Missense_Mutation_p.A108G|DFNA5_ENST00000419307.1_Missense_Mutation_p.A108G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	272					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TATCCCATGCGCAGCATCTGG	0.512																																					p.A272G	GBM(78;184 1250 20134 20900 23600)	Atlas-SNP	.											.	DFNA5	51	.	0			c.C815G						.						140.0	132.0	135.0					7																	24749890		2203	4300	6503	SO:0001583	missense	1687	exon6			CCATGCGCAGCAT	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.815C>G	chr7.hg19:g.24749890G>C	ENSP00000339587:p.Ala272Gly	59.0	0.0		67.0	13.0	NM_001127453	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	hg19	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.121|6.121	0.390527|0.390527	0.11581|0.11581	.|.	.|.	ENSG00000105928|ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775|ENST00000415480;ENST00000446822	T;T;T;T;T|.	0.20738|.	2.05;2.05;2.05;2.05;2.05|.	5.47|5.47	-0.583|-0.583	0.11706|0.11706	.|.	1.340530|.	0.04814|.	N|.	0.435804|.	T|T	0.04048|0.04048	0.0113|0.0113	N|N	0.00162|0.00162	-1.95|-1.95	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.40572|0.40572	-0.9556|-0.9556	10|5	0.24483|.	T|.	0.36|.	-0.396|-0.396	3.1868|3.1868	0.06603|0.06603	0.2317:0.312:0.3638:0.0924|0.2317:0.312:0.3638:0.0924	.|.	272|.	O60443|.	DFNA5_HUMAN|.	G|G	272;108;108;108;272|61;97	ENSP00000339587:A272G;ENSP00000401332:A108G;ENSP00000442661:A108G;ENSP00000387119:A108G;ENSP00000386670:A272G|.	ENSP00000339587:A272G|.	A|R	-|-	2|1	0|0	DFNA5|DFNA5	24716415|24716415	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.133000|0.133000	0.20885|0.20885	-0.249000|-0.249000	0.08842|0.08842	-0.019000|-0.019000	0.14055|0.14055	-0.256000|-0.256000	0.11100|0.11100	GCG|CGC	.	.		0.512	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403	
PDE1C	5137	hgsc.bcm.edu	37	7	31912954	31912954	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:31912954A>G	ENST00000396191.1	-	6	1015	c.560T>C	c.(559-561)tTt>tCt	p.F187S	PDE1C_ENST00000396182.2_Missense_Mutation_p.F187S|PDE1C_ENST00000396193.1_Missense_Mutation_p.F247S|PDE1C_ENST00000396184.3_Missense_Mutation_p.F187S|PDE1C_ENST00000321453.7_Missense_Mutation_p.F187S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	187					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.F187S(2)|p.F247S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ATAGAAAATAAATTTCAGTGC	0.398																																					p.F247S		Atlas-SNP	.											PDE1C_ENST00000396193,bladder,carcinoma,0,3	PDE1C	465	.	3	Substitution - Missense(3)	urinary_tract(3)	c.T740C						.						86.0	82.0	84.0					7																	31912954		2203	4300	6503	SO:0001583	missense	5137	exon7			AAAATAAATTTCA	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.560T>C	chr7.hg19:g.31912954A>G	ENSP00000379494:p.Phe187Ser	113.0	0.0		66.0	3.0	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	hg19	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837457	0.91117	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.14	5.14	0.70334	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.83381	0.5242	M	0.70595	2.14	0.80722	D	1	P;D;D	0.63046	0.779;0.992;0.965	P;P;P	0.61477	0.511;0.889;0.549	D	0.85330	0.1089	10	0.62326	D	0.03	.	14.6161	0.68549	1.0:0.0:0.0:0.0	.	187;247;187	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	247;187;187;187;187	ENSP00000379496:F247S;ENSP00000379494:F187S;ENSP00000318105:F187S;ENSP00000379487:F187S;ENSP00000379485:F187S	ENSP00000318105:F187S	F	-	2	0	PDE1C	31879479	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.300000	0.96151	1.921000	0.55644	0.383000	0.25322	TTT	.	.		0.398	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
AVL9	23080	hgsc.bcm.edu	37	7	32590989	32590989	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:32590989A>G	ENST00000318709.4	+	5	637	c.416A>G	c.(415-417)cAt>cGt	p.H139R	AVL9_ENST00000409301.1_Missense_Mutation_p.H139R|AVL9_ENST00000404479.1_Missense_Mutation_p.H139R	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	139					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTCATTACACATGCATATTTT	0.303																																					p.H139R		Atlas-SNP	.											.	AVL9	66	.	0			c.A416G						.						107.0	110.0	109.0					7																	32590989		2203	4294	6497	SO:0001583	missense	23080	exon5			TTACACATGCATA	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.416A>G	chr7.hg19:g.32590989A>G	ENSP00000315568:p.His139Arg	85.0	0.0		68.0	4.0	NM_015060	Q92573	Missense_Mutation	SNP	ENST00000318709.4	hg19	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575568	0.65878	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	L	0.39326	1.205	0.80722	D	1	D;D	0.63880	0.979;0.993	D;D	0.65233	0.933;0.909	T	0.41378	-0.9512	10	0.19590	T	0.45	-15.3642	15.785	0.78294	1.0:0.0:0.0:0.0	.	139;139	Q8N6Z3;Q8NBF6	.;AVL9_HUMAN	R	139;139;139;139;70	ENSP00000315568:H139R;ENSP00000387011:H139R;ENSP00000385242:H139R;ENSP00000395134:H70R	ENSP00000315568:H139R	H	+	2	0	AVL9	32557514	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.136000	0.66102	0.383000	0.25322	CAT	.	.		0.303	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
VPS41	27072	hgsc.bcm.edu	37	7	38869928	38869928	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:38869928T>C	ENST00000310301.4	-	5	301	c.247A>G	c.(247-249)Agt>Ggt	p.S83G	VPS41_ENST00000395969.2_Intron	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	83					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTCACAGGACTCTAAAAAGAA	0.358																																					p.S83G		Atlas-SNP	.											.	VPS41	102	.	0			c.A247G						.						245.0	250.0	248.0					7																	38869928		2203	4300	6503	SO:0001630	splice_region_variant	27072	exon5			CAGGACTCTAAAA	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.247-1A>G	chr7.hg19:g.38869928T>C		81.0	0.0		80.0	4.0	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	hg19	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.080004	0.55753	.	.	ENSG00000006715	ENST00000310301;ENST00000413141;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T	0.54479	2.32;0.74;3.34;0.57;2.32	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	M	0.72353	2.195	0.80722	D	1	P;P	0.47762	0.9;0.9	B;B	0.44224	0.444;0.444	T	0.64765	-0.6330	10	0.87932	D	0	-16.3791	14.1004	0.65051	0.0:0.0:0.0:1.0	.	83;83	B2RB94;P49754	.;VPS41_HUMAN	G	83;9;70;33;33	ENSP00000309457:S83G;ENSP00000412974:S9G;ENSP00000411919:S70G;ENSP00000407835:S33G;ENSP00000398584:S33G	ENSP00000265745:S83G	S	-	1	0	VPS41	38836453	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.978000	0.63799	2.111000	0.64477	0.528000	0.53228	AGT	.	.		0.358	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Missense_Mutation
AEBP1	165	hgsc.bcm.edu	37	7	44150363	44150363	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:44150363T>A	ENST00000223357.3	+	12	1745	c.1440T>A	c.(1438-1440)aaT>aaA	p.N480K	AEBP1_ENST00000450684.2_5'UTR|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	480	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCTTCAGCAATGACAGCCAGA	0.592																																					p.N480K		Atlas-SNP	.											.	AEBP1	102	.	0			c.T1440A						.						168.0	159.0	162.0					7																	44150363		2203	4300	6503	SO:0001583	missense	165	exon12			CAGCAATGACAGC	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1440T>A	chr7.hg19:g.44150363T>A	ENSP00000223357:p.Asn480Lys	119.0	0.0		92.0	27.0	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	hg19	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895451	0.72639	.	.	ENSG00000106624	ENST00000223357	D	0.98280	-4.84	5.4	-9.63	0.00544	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.73372	2.23	0.80722	D	1	P	0.42908	0.793	P	0.55615	0.78	D	0.96321	0.9236	10	0.87932	D	0	-34.1631	19.0228	0.92921	0.0:0.607:0.0:0.393	.	480	Q8IUX7	AEBP1_HUMAN	K	480	ENSP00000223357:N480K	ENSP00000223357:N480K	N	+	3	2	AEBP1	44116888	0.035000	0.19736	0.657000	0.29651	0.928000	0.56348	-0.887000	0.04152	-2.067000	0.00885	-1.621000	0.00791	AAT	.	.		0.592	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	
FGL2	10875	hgsc.bcm.edu	37	7	76826056	76826056	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:76826056T>C	ENST00000248598.5	-	2	892	c.860A>G	c.(859-861)gAt>gGt	p.D287G	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	287	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ATGAATTTTATCGTTCCCCAG	0.423																																					p.D287G		Atlas-SNP	.											.	FGL2	40	.	0			c.A860G						.						119.0	124.0	122.0					7																	76826056		2203	4300	6503	SO:0001583	missense	10875	exon2			ATTTTATCGTTCC	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.860A>G	chr7.hg19:g.76826056T>C	ENSP00000248598:p.Asp287Gly	192.0	0.0		125.0	5.0	NM_006682		Missense_Mutation	SNP	ENST00000248598.5	hg19	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222273	0.79464	.	.	ENSG00000127951	ENST00000248598	D	0.83250	-1.7	6.03	6.03	0.97812	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.041868	0.85682	D	0.000000	D	0.91758	0.7393	M	0.87097	2.86	0.80722	D	1	D	0.56746	0.977	D	0.64776	0.929	D	0.92972	0.6398	10	0.87932	D	0	.	16.2196	0.82251	0.0:0.0:0.0:1.0	.	287	Q14314	FGL2_HUMAN	G	287	ENSP00000248598:D287G	ENSP00000248598:D287G	D	-	2	0	FGL2	76663992	1.000000	0.71417	0.983000	0.44433	0.950000	0.60333	7.698000	0.84413	2.308000	0.77769	0.533000	0.62120	GAT	.	.		0.423	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682	
CCDC132	55610	hgsc.bcm.edu	37	7	92952972	92952972	+	Silent	SNP	T	T	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:92952972T>A	ENST00000305866.5	+	21	2033	c.1905T>A	c.(1903-1905)gtT>gtA	p.V635V	CCDC132_ENST00000535481.1_Silent_p.V355V|CCDC132_ENST00000541136.1_Silent_p.V446V|CCDC132_ENST00000544910.1_Silent_p.V605V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	635						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTTTGATGTTATTCATTTCA	0.279																																					p.V635V		Atlas-SNP	.											.	CCDC132	136	.	0			c.T1905A						.						79.0	74.0	75.0					7																	92952972		1802	4062	5864	SO:0001819	synonymous_variant	55610	exon21			TGATGTTATTCAT	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1905T>A	chr7.hg19:g.92952972T>A		59.0	0.0		39.0	9.0	NM_017667	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	hg19	CCDS43617.1																																																																																			.	.		0.279	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
TRRAP	8295	hgsc.bcm.edu	37	7	98508787	98508787	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:98508787C>T	ENST00000359863.4	+	17	2109	c.1900C>T	c.(1900-1902)Cat>Tat	p.H634Y	TRRAP_ENST00000446306.3_Missense_Mutation_p.H633Y|TRRAP_ENST00000355540.3_Missense_Mutation_p.H634Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	634					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTATTGGAGCATTTCGCTGG	0.443																																					p.H634Y		Atlas-SNP	.											.	TRRAP	863	.	0			c.C1900T						.						130.0	115.0	120.0					7																	98508787		2203	4300	6503	SO:0001583	missense	8295	exon17			TTGGAGCATTTCG	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1900C>T	chr7.hg19:g.98508787C>T	ENSP00000352925:p.His634Tyr	136.0	0.0		100.0	4.0	NM_001244580	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540478	0.65085	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.43294	0.95;0.95	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.31294	0.92	0.80722	D	1	P;B;B	0.41080	0.737;0.174;0.299	B;B;B	0.40329	0.326;0.062;0.052	T	0.10132	-1.0643	10	0.02654	T	1	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	634;348;634	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	Y	634;634;632	ENSP00000352925:H634Y;ENSP00000347733:H634Y	ENSP00000347733:H634Y	H	+	1	0	TRRAP	98346723	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.677000	0.84024	2.832000	0.97577	0.655000	0.94253	CAT	.	.		0.443	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
MUC17	140453	hgsc.bcm.edu	37	7	100696684	100696684	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:100696684A>G	ENST00000306151.4	+	11	13394	c.13330A>G	c.(13330-13332)Acc>Gcc	p.T4444A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4444					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCTCCTGGGACCTTCCAAAA	0.488																																					p.T4444A		Atlas-SNP	.											.	MUC17	804	.	0			c.A13330G						.						96.0	93.0	94.0					7																	100696684		2203	4300	6503	SO:0001583	missense	140453	exon11			CCTGGGACCTTCC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13330A>G	chr7.hg19:g.100696684A>G	ENSP00000302716:p.Thr4444Ala	106.0	0.0		105.0	6.0	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	6.086	0.384094	0.11524	.	.	ENSG00000169876	ENST00000306151	T	0.02140	4.43	5.49	1.53	0.23141	.	.	.	.	.	T	0.01765	0.0056	L	0.42245	1.32	0.22378	N	0.999153	P	0.50156	0.932	B	0.38954	0.286	T	0.37820	-0.9689	9	0.10377	T	0.69	.	3.3769	0.07241	0.6159:0.0:0.1799:0.2042	.	4444	Q685J3	MUC17_HUMAN	A	4444	ENSP00000302716:T4444A	ENSP00000302716:T4444A	T	+	1	0	MUC17	100483404	0.870000	0.30015	0.972000	0.41901	0.347000	0.29111	0.450000	0.21762	0.001000	0.14605	-0.280000	0.10049	ACC	.	.		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
LRRC17	10234	hgsc.bcm.edu	37	7	102575006	102575006	+	Missense_Mutation	SNP	G	G	A	rs80100722		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:102575006G>A	ENST00000339431.4	+	2	941	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.E216K|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000455112.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	216					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TAATGAAGAAGAAAAGGAACA	0.433																																					p.E216K		Atlas-SNP	.											.	LRRC17	45	.	0			c.G646A						.						38.0	39.0	39.0					7																	102575006		2157	4282	6439	SO:0001583	missense	10234	exon2			GAAGAAGAAAAGG	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.646G>A	chr7.hg19:g.102575006G>A	ENSP00000344242:p.Glu216Lys	43.0	0.0		32.0	5.0	NM_005824	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	hg19	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553100	0.45487	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.63096	0.27;-0.02	5.28	4.33	0.51752	.	0.223034	0.31031	N	0.008387	T	0.50069	0.1594	L	0.55481	1.735	0.09310	N	1	B;B	0.28933	0.146;0.228	B;B	0.30855	0.038;0.121	T	0.41574	-0.9501	10	0.05959	T	0.93	-21.2297	9.2511	0.37555	0.0765:0.1469:0.7766:0.0	.	216;216	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	K	216	ENSP00000344242:E216K;ENSP00000249377:E216K	ENSP00000249377:E216K	E	+	1	0	LRRC17	102362242	0.526000	0.26298	0.605000	0.28930	0.985000	0.73830	1.553000	0.36255	2.617000	0.88574	0.563000	0.77884	GAA	.	.		0.433	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	
DLD	1738	hgsc.bcm.edu	37	7	107533711	107533711	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:107533711G>A	ENST00000205402.5	+	2	387	c.106G>A	c.(106-108)Gca>Aca	p.A36T	DLD_ENST00000440410.1_Missense_Mutation_p.A36T|DLD_ENST00000537148.1_5'UTR|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000437604.2_Missense_Mutation_p.A36T	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	36					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GAGAACTTACGCAGATCAGCC	0.358																																					p.A36T		Atlas-SNP	.											.	DLD	72	.	0			c.G106A						.						102.0	99.0	100.0					7																	107533711		2203	4300	6503	SO:0001583	missense	1738	exon2			ACTTACGCAGATC	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.106G>A	chr7.hg19:g.107533711G>A	ENSP00000205402:p.Ala36Thr	78.0	0.0		65.0	4.0	NM_000108	B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	hg19	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059091	0.36373	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000440410;ENST00000437604	T;T;T;T	0.70045	-0.4;-0.4;-0.41;-0.45	5.03	2.23	0.28157	.	0.240755	0.41294	N	0.000910	T	0.40094	0.1103	N	0.08118	0	0.80722	D	1	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.08055	0.003;0.002;0.003	T	0.09840	-1.0656	10	0.44086	T	0.13	-16.0112	5.0545	0.14525	0.1588:0.0:0.5504:0.2907	.	36;36;36	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	T	36	ENSP00000205402:A36T;ENSP00000390667:A36T;ENSP00000417016:A36T;ENSP00000387542:A36T	ENSP00000205402:A36T	A	+	1	0	DLD	107320947	0.970000	0.33590	0.589000	0.28718	0.410000	0.31052	1.287000	0.33284	0.289000	0.22422	0.467000	0.42956	GCA	.	.		0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108	
LRRN3	54674	hgsc.bcm.edu	37	7	110764889	110764889	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:110764889A>G	ENST00000422987.3	+	2	2892	c.2061A>G	c.(2059-2061)ggA>ggG	p.G687G	LRRN3_ENST00000451085.1_Silent_p.G687G|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Silent_p.G687G|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	687					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGGAAGCAGGAAAAGAAAAAA	0.378																																					p.G687G		Atlas-SNP	.											.	LRRN3	132	.	0			c.A2061G						.						67.0	72.0	70.0					7																	110764889		2203	4300	6503	SO:0001819	synonymous_variant	54674	exon2			AGCAGGAAAAGAA	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2061A>G	chr7.hg19:g.110764889A>G		14.0	0.0		22.0	4.0	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	hg19	CCDS5754.1																																																																																			.	.		0.378	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121636505	121636505	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:121636505A>G	ENST00000393386.2	+	9	1409	c.998A>G	c.(997-999)gAa>gGa	p.E333G	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E333G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	333	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTTACATGGGAAAGACCTCGA	0.398																																					p.E333G		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.A998G						.						118.0	113.0	115.0					7																	121636505		2203	4300	6503	SO:0001583	missense	5803	exon9			CATGGGAAAGACC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.998A>G	chr7.hg19:g.121636505A>G	ENSP00000377047:p.Glu333Gly	99.0	0.0		93.0	4.0	NM_001206838	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.582125	0.46006	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.59364	0.27;0.27	5.92	5.92	0.95590	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.150633	0.46442	D	0.000283	T	0.62575	0.2439	L	0.27053	0.805	0.34971	D	0.753186	D;D	0.76494	0.999;0.999	D;D	0.75020	0.961;0.985	T	0.73291	-0.4029	10	0.72032	D	0.01	.	10.6656	0.45728	0.929:0.0:0.071:0.0	.	333;333	C9JFM0;P23471	.;PTPRZ_HUMAN	G	333	ENSP00000377047:E333G;ENSP00000410000:E333G	ENSP00000377047:E333G	E	+	2	0	PTPRZ1	121423741	1.000000	0.71417	0.997000	0.53966	0.501000	0.33797	5.812000	0.69194	2.266000	0.75297	0.533000	0.62120	GAA	.	.		0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
MKLN1	4289	hgsc.bcm.edu	37	7	131084062	131084062	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:131084062A>G	ENST00000352689.6	+	6	613	c.573A>G	c.(571-573)gaA>gaG	p.E191E	MKLN1_ENST00000429546.1_3'UTR|MKLN1_ENST00000421797.2_Silent_p.E99E	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	191	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACTATACAGAAGCTTTTGAGT	0.393																																					p.E191E		Atlas-SNP	.											.	MKLN1	67	.	0			c.A573G						.						147.0	148.0	148.0					7																	131084062		2203	4300	6503	SO:0001819	synonymous_variant	4289	exon6			TACAGAAGCTTTT	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.573A>G	chr7.hg19:g.131084062A>G		120.0	0.0		100.0	4.0	NM_013255	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	hg19	CCDS34754.1																																																																																			.	.		0.393	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255	
CLCN1	1180	hgsc.bcm.edu	37	7	143043238	143043238	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:143043238T>C	ENST00000343257.2	+	18	2265	c.2178T>C	c.(2176-2178)ccT>ccC	p.P726P		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	726					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TACAGCTTCCTCCTTCCCTTG	0.577																																					p.P726P		Atlas-SNP	.											.	CLCN1	141	.	0			c.T2178C						.						105.0	96.0	99.0					7																	143043238		2203	4300	6503	SO:0001819	synonymous_variant	1180	exon18			GCTTCCTCCTTCC	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2178T>C	chr7.hg19:g.143043238T>C		153.0	0.0		113.0	5.0	NM_000083	A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	hg19	CCDS5881.1																																																																																			.	.		0.577	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
LMBR1	64327	hgsc.bcm.edu	37	7	156685632	156685632	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr7:156685632C>A	ENST00000353442.5	-	1	292	c.56G>T	c.(55-57)cGg>cTg	p.R19L	LMBR1_ENST00000540390.1_Silent_p.A22A|LMBR1_ENST00000354505.4_Missense_Mutation_p.R19L	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	19					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CGTGGACTCCCGCACTTGGCT	0.776																																					p.R19L		Atlas-SNP	.											.	LMBR1	35	.	0			c.G56T						.						21.0	18.0	19.0					7																	156685632		2182	4284	6466	SO:0001583	missense	64327	exon1			GACTCCCGCACTT	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.56G>T	chr7.hg19:g.156685632C>A	ENSP00000326604:p.Arg19Leu	46.0	0.0		18.0	4.0	NM_022458	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	hg19	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585764	0.66105	.	.	ENSG00000105983	ENST00000353442;ENST00000415428;ENST00000354505;ENST00000347571	T;T;T	0.59906	0.27;0.24;0.23	3.29	3.29	0.37713	.	0.210739	0.30800	U	0.008846	T	0.50803	0.1637	L	0.46819	1.47	0.80722	D	1	B;B	0.23128	0.08;0.001	B;B	0.25506	0.061;0.002	T	0.57365	-0.7824	10	0.87932	D	0	-0.9976	12.5562	0.56254	0.0:1.0:0.0:0.0	.	19;19	Q8WVP7-3;Q8WVP7	.;LMBR1_HUMAN	L	19;17;19;19	ENSP00000326604:R19L;ENSP00000408256:R17L;ENSP00000346500:R19L	ENSP00000337803:R19L	R	-	2	0	LMBR1	156378393	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.259000	0.51515	1.676000	0.50930	0.298000	0.19748	CGG	.	.		0.776	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458	
PXDNL	137902	hgsc.bcm.edu	37	8	52287209	52287209	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr8:52287209T>C	ENST00000356297.4	-	18	3740	c.3640A>G	c.(3640-3642)Aca>Gca	p.T1214A	PXDNL_ENST00000543296.1_Missense_Mutation_p.T1214A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1214					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACATAAGTGTTGGTCCCACT	0.443																																					p.T1214A		Atlas-SNP	.											.	PXDNL	414	.	0			c.A3640G						.						85.0	86.0	86.0					8																	52287209		1956	4149	6105	SO:0001583	missense	137902	exon18			TAAGTGTTGGTCC		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3640A>G	chr8.hg19:g.52287209T>C	ENSP00000348645:p.Thr1214Ala	52.0	0.0		56.0	4.0	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157073	0.38119	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.79247	-1.25;-1.25	4.63	4.63	0.57726	.	0.131624	0.33631	N	0.004705	D	0.90307	0.6968	H	0.95224	3.64	0.39215	D	0.963384	D	0.76494	0.999	D	0.76575	0.988	D	0.91827	0.5472	10	0.37606	T	0.19	.	11.974	0.53081	0.0:0.0:0.0:1.0	.	1214	A1KZ92	PXDNL_HUMAN	A	1214	ENSP00000348645:T1214A;ENSP00000444865:T1214A	ENSP00000348645:T1214A	T	-	1	0	PXDNL	52449762	1.000000	0.71417	0.057000	0.19452	0.029000	0.11900	6.932000	0.75869	1.732000	0.51606	0.459000	0.35465	ACA	.	.		0.443	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
NKAIN3	286183	hgsc.bcm.edu	37	8	63492222	63492222	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr8:63492222G>A	ENST00000523211.1	+	2	311	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.R60Q	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TACAGACCTCGATACATAATG	0.323																																					p.R60Q		Atlas-SNP	.											NKAIN3,caecum,carcinoma,0,1	NKAIN3	32	.	0			c.G179A						.						149.0	135.0	140.0					8																	63492222		1808	4080	5888	SO:0001583	missense	286183	exon2			GACCTCGATACAT	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.179G>A	chr8.hg19:g.63492222G>A	ENSP00000429073:p.Arg60Gln	46.0	0.0		61.0	3.0	NM_173688		Missense_Mutation	SNP	ENST00000523211.1	hg19	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475329	0.63737	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.17854	2.25;2.25;2.25	6.01	5.14	0.70334	.	0.000000	0.64402	D	0.000011	T	0.47746	0.1462	M	0.87682	2.9	0.46542	D	0.999091	D	0.89917	1.0	D	0.87578	0.998	T	0.56697	-0.7936	10	0.72032	D	0.01	-24.0867	14.5325	0.67936	0.0699:0.0:0.9301:0.0	.	60	Q8N8D7	NKAI3_HUMAN	Q	60	ENSP00000429073:R60Q;ENSP00000429393:R60Q;ENSP00000333627:R60Q	ENSP00000333627:R60Q	R	+	2	0	NKAIN3	63654776	1.000000	0.71417	0.991000	0.47740	0.008000	0.06430	7.993000	0.88291	1.557000	0.49525	0.650000	0.86243	CGA	.	.		0.323	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688	
TMEM67	91147	hgsc.bcm.edu	37	8	94827602	94827602	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr8:94827602T>C	ENST00000453321.3	+	27	2892	c.2834T>C	c.(2833-2835)cTg>cCg	p.L945P	TMEM67_ENST00000409623.3_Missense_Mutation_p.L864P	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	945					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTGATCTGCTGTTCTTCTGT	0.284																																					p.L945P		Atlas-SNP	.											.	TMEM67	187	.	0			c.T2834C						.						127.0	113.0	118.0					8																	94827602		2203	4295	6498	SO:0001583	missense	91147	exon27			ATCTGCTGTTCTT	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2834T>C	chr8.hg19:g.94827602T>C	ENSP00000389998:p.Leu945Pro	78.0	0.0		86.0	4.0	NM_153704	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	hg19	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322436	0.81580	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97924	-4.61;-4.61	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000002	D	0.98751	0.9580	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.984;0.988	D	0.99816	1.1044	10	0.87932	D	0	-6.1695	16.0711	0.80936	0.0:0.0:0.0:1.0	.	945;864	Q5HYA8;G5E9H2	MKS3_HUMAN;.	P	945;864	ENSP00000389998:L945P;ENSP00000386966:L864P	ENSP00000314488:L935P	L	+	2	0	TMEM67	94896778	1.000000	0.71417	0.980000	0.43619	0.976000	0.68499	7.670000	0.83925	2.197000	0.70478	0.482000	0.46254	CTG	.	.		0.284	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	
CDH17	1015	hgsc.bcm.edu	37	8	95161099	95161099	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr8:95161099A>G	ENST00000027335.3	-	14	1924	c.1800T>C	c.(1798-1800)taT>taC	p.Y600Y	CDH17_ENST00000450165.2_Silent_p.Y600Y|CDH17_ENST00000441892.2_Silent_p.Y386Y	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	600	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCCTCAGTGAATAGCTTCATC	0.423																																					p.Y600Y		Atlas-SNP	.											.	CDH17	119	.	0			c.T1800C						.						104.0	88.0	93.0					8																	95161099		2203	4300	6503	SO:0001819	synonymous_variant	1015	exon14			CAGTGAATAGCTT	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1800T>C	chr8.hg19:g.95161099A>G		118.0	0.0		97.0	4.0	NM_004063	Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	hg19	CCDS6260.1																																																																																			.	.		0.423	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	
LRRC24	441381	hgsc.bcm.edu	37	8	145748075	145748075	+	Silent	SNP	T	T	C	rs112652028	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr8:145748075T>C	ENST00000529415.2	-	5	1443	c.1326A>G	c.(1324-1326)ggA>ggG	p.G442G	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.G439G|LRRC14_ENST00000528528.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	442						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGAACAGCGCTCCCTCCCCCG	0.682																																					p.G442G		Atlas-SNP	.											.	LRRC24	11	.	0			c.A1326G						.						13.0	14.0	14.0					8																	145748075		2172	4286	6458	SO:0001819	synonymous_variant	441381	exon5			CAGCGCTCCCTCC	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1326A>G	chr8.hg19:g.145748075T>C		64.0	0.0		153.0	8.0	NM_001024678		Silent	SNP	ENST00000529415.2	hg19	CCDS34969.1																																																																																			.	T|0.986;G|0.014		0.682	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678	
SLC1A1	6505	hgsc.bcm.edu	37	9	4490708	4490708	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:4490708A>G	ENST00000262352.3	+	1	265	c.29A>G	c.(28-30)gAg>gGg	p.E10G		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	10				E -> PS (in Ref. 3; AAA50430). {ECO:0000305}.	D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	AAAGGATGCGAGTGGAAGCGC	0.692																																					p.E10G		Atlas-SNP	.											.	SLC1A1	43	.	0			c.A29G						.						139.0	113.0	122.0					9																	4490708		2203	4300	6503	SO:0001583	missense	6505	exon1			GATGCGAGTGGAA		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.29A>G	chr9.hg19:g.4490708A>G	ENSP00000262352:p.Glu10Gly	145.0	0.0		83.0	4.0	NM_004170	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	hg19	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044083	0.55110	.	.	ENSG00000106688	ENST00000262352	T	0.56444	0.46	5.38	5.38	0.77491	.	0.281433	0.38436	N	0.001687	T	0.37517	0.1006	N	0.19112	0.55	0.31135	N	0.707303	B	0.02656	0.0	B	0.04013	0.001	T	0.39396	-0.9616	10	0.42905	T	0.14	.	11.7645	0.51922	1.0:0.0:0.0:0.0	.	10	P43005	EAA3_HUMAN	G	10	ENSP00000262352:E10G	ENSP00000262352:E10G	E	+	2	0	SLC1A1	4480708	1.000000	0.71417	0.993000	0.49108	0.759000	0.43091	4.010000	0.57117	2.026000	0.59711	0.459000	0.35465	GAG	.	.		0.692	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
KIAA2026	158358	hgsc.bcm.edu	37	9	5920644	5920644	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:5920644A>G	ENST00000399933.3	-	8	5351	c.5352T>C	c.(5350-5352)acT>acC	p.T1784T	KIAA2026_ENST00000381461.2_Silent_p.T1754T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1784										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACTGGAGTGAAGTCCGAGATT	0.423																																					p.T1784T		Atlas-SNP	.											.	KIAA2026	231	.	0			c.T5352C						.						359.0	352.0	355.0					9																	5920644		1943	4133	6076	SO:0001819	synonymous_variant	158358	exon8			GAGTGAAGTCCGA	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5352T>C	chr9.hg19:g.5920644A>G		140.0	0.0		89.0	5.0	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	hg19																																																																																				.	.		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
IFNW1	3467	hgsc.bcm.edu	37	9	21141108	21141108	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:21141108C>T	ENST00000380229.2	-	1	1036	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	154					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCTTTCAGGTAGACAC	0.473																																					p.L154L		Atlas-SNP	.											.	IFNW1	20	.	0			c.G462A						.						98.0	93.0	94.0					9																	21141108		2203	4300	6503	SO:0001819	synonymous_variant	3467	exon1			CTCTTTCAGGTAG		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.462G>A	chr9.hg19:g.21141108C>T		77.0	0.0		80.0	4.0	NM_002177	Q13168|Q5U802|Q5VWD0|Q7M4P5	Silent	SNP	ENST00000380229.2	hg19	CCDS6496.1																																																																																			.	.		0.473	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177	
C9orf72	203228	hgsc.bcm.edu	37	9	27548315	27548315	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:27548315A>C	ENST00000380003.3	-	11	1428	c.1365T>G	c.(1363-1365)atT>atG	p.I455M	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	455					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GGCCTGGTTTAATTTTCTCAG	0.378																																					p.I455M		Atlas-SNP	.											.	C9orf72	48	.	0			c.T1365G						.						110.0	111.0	111.0					9																	27548315		2203	4300	6503	SO:0001583	missense	203228	exon11			TGGTTTAATTTTC	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1365T>G	chr9.hg19:g.27548315A>C	ENSP00000369339:p.Ile455Met	64.0	0.0		61.0	15.0	NM_018325	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	hg19	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.929733	0.34096	.	.	ENSG00000147894	ENST00000380003	T	0.47528	0.84	5.75	2.13	0.27403	.	0.158723	0.56097	D	0.000023	T	0.21186	0.0510	N	0.08118	0	0.80722	D	1	P	0.39157	0.662	B	0.34180	0.177	T	0.03296	-1.1051	9	.	.	.	.	7.9488	0.30001	0.5824:0.0:0.4176:0.0	.	455	Q96LT7	CI072_HUMAN	M	455	ENSP00000369339:I455M	.	I	-	3	3	C9orf72	27538315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.279000	0.33191	0.465000	0.27167	0.374000	0.22700	ATT	.	.		0.378	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325	
UNC13B	10497	hgsc.bcm.edu	37	9	35378361	35378361	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:35378361T>C	ENST00000378495.3	+	16	2108	c.1886T>C	c.(1885-1887)gTc>gCc	p.V629A	UNC13B_ENST00000396787.1_Missense_Mutation_p.V641A|UNC13B_ENST00000378496.4_Missense_Mutation_p.V629A	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	629	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGTGCAAGTCAGCAAAACT	0.473																																					p.V629A		Atlas-SNP	.											.	UNC13B	153	.	0			c.T1886C						.						162.0	146.0	152.0					9																	35378361		2203	4300	6503	SO:0001583	missense	10497	exon16			TGCAAGTCAGCAA	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1886T>C	chr9.hg19:g.35378361T>C	ENSP00000367756:p.Val629Ala	109.0	0.0		93.0	4.0	NM_006377	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	hg19	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760325	0.89932	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.71222	-0.55;-0.55;-0.55	5.54	5.54	0.83059	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	L	0.48935	1.535	0.80722	D	1	D;D	0.76494	0.957;0.999	P;D	0.91635	0.764;0.999	T	0.82252	-0.0549	10	0.87932	D	0	-16.0502	15.6673	0.77238	0.0:0.0:0.0:1.0	.	629;629	F8W8M9;O14795	.;UN13B_HUMAN	A	641;629;629;216	ENSP00000380006:V641A;ENSP00000367756:V629A;ENSP00000367757:V629A	ENSP00000367756:V629A	V	+	2	0	UNC13B	35368361	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.945000	0.87732	2.119000	0.64992	0.477000	0.44152	GTC	.	.		0.473	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
RECK	8434	hgsc.bcm.edu	37	9	36052297	36052297	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:36052297A>G	ENST00000377966.3	+	2	702	c.136A>G	c.(136-138)Atg>Gtg	p.M46V	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	46	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GGATAACCAAATGTGCCGTGA	0.398																																					p.M46V		Atlas-SNP	.											.	RECK	73	.	0			c.A136G						.						167.0	142.0	150.0					9																	36052297		2203	4300	6503	SO:0001583	missense	8434	exon2			AACCAAATGTGCC	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.136A>G	chr9.hg19:g.36052297A>G	ENSP00000367202:p.Met46Val	133.0	0.0		97.0	4.0	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	hg19	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508913	0.44660	.	.	ENSG00000122707	ENST00000377966	T	0.41065	1.01	5.42	5.42	0.78866	.	0.109107	0.64402	D	0.000007	T	0.42449	0.1203	N	0.14661	0.345	0.37086	D	0.899205	P;B;B	0.40332	0.713;0.165;0.452	P;B;P	0.54815	0.761;0.031;0.455	T	0.54741	-0.8248	10	0.66056	D	0.02	-18.4722	11.8478	0.52395	1.0:0.0:0.0:0.0	.	46;46;46	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	V	46	ENSP00000367202:M46V	ENSP00000367202:M46V	M	+	1	0	RECK	36042297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.061000	0.64319	2.067000	0.61834	0.533000	0.62120	ATG	.	.		0.398	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
PCSK5	5125	hgsc.bcm.edu	37	9	78790032	78790032	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:78790032A>G	ENST00000545128.1	+	14	2425	c.1887A>G	c.(1885-1887)acA>acG	p.T629T	PCSK5_ENST00000376752.4_Silent_p.T629T|PCSK5_ENST00000376767.3_Silent_p.T629T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	629					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACTATGGCACAGAGGATTATG	0.517																																					p.T629T		Atlas-SNP	.											.	PCSK5	329	.	0			c.A1887G						.						107.0	102.0	104.0					9																	78790032		2203	4300	6503	SO:0001819	synonymous_variant	5125	exon14			TGGCACAGAGGAT		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1887A>G	chr9.hg19:g.78790032A>G		105.0	0.0		83.0	4.0	NM_006200	F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	hg19	CCDS55320.1																																																																																			.	.		0.517	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
NTRK2	4915	hgsc.bcm.edu	37	9	87475992	87475992	+	Intron	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:87475992A>G	ENST00000323115.4	+	12	1749				NTRK2_ENST00000304053.6_Silent_p.R478R|NTRK2_ENST00000376213.1_Intron|NTRK2_ENST00000376208.1_Intron|NTRK2_ENST00000277120.3_Silent_p.R478R|NTRK2_ENST00000376214.1_Silent_p.R478R			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TAAAATCAAGACAAGGTGTTG	0.358										TSP Lung(25;0.17)																											p.R478R		Atlas-SNP	.											.	NTRK2	331	.	0			c.A1434G						.						170.0	152.0	158.0					9																	87475992		2203	4300	6503	SO:0001627	intron_variant	4915	exon13			ATCAAGACAAGGT	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1397-6166A>G	chr9.hg19:g.87475992A>G		131.0	0.0		92.0	4.0	NM_001018065	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	hg19	CCDS35050.1																																																																																			.	.		0.358	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
SEMA4D	10507	hgsc.bcm.edu	37	9	92020314	92020314	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:92020314T>C	ENST00000450295.1	-	3	834	c.58A>G	c.(58-60)Aca>Gca	p.T20A	SEMA4D_ENST00000339861.4_Missense_Mutation_p.T20A|SEMA4D_ENST00000420987.1_Missense_Mutation_p.T20A|SEMA4D_ENST00000438547.2_Missense_Mutation_p.T20A|SEMA4D_ENST00000422704.2_Missense_Mutation_p.T20A|SEMA4D_ENST00000455551.2_Missense_Mutation_p.T20A|SEMA4D_ENST00000343780.4_Missense_Mutation_p.T20A|SEMA4D_ENST00000356444.2_Missense_Mutation_p.T20A			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	20					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCCATCGCTGTCCCAAACATC	0.607																																					p.T20A		Atlas-SNP	.											.	SEMA4D	81	.	0			c.A58G						.						105.0	95.0	98.0					9																	92020314		2203	4300	6503	SO:0001583	missense	10507	exon5			TCGCTGTCCCAAA	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.58A>G	chr9.hg19:g.92020314T>C	ENSP00000416523:p.Thr20Ala	88.0	0.0		76.0	4.0	NM_006378	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	hg19	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	T	6.807	0.518052	0.13005	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704;ENST00000420681;ENST00000433650;ENST00000540475;ENST00000418828	T;T;T;T;T;T;T;T;T;T	0.44881	2.14;2.14;2.14;2.14;2.12;2.12;2.12;2.12;0.98;0.91	4.51	0.873	0.19118	Semaphorin/CD100 antigen (1);	0.625976	0.14283	N	0.329384	T	0.25938	0.0632	L	0.41236	1.265	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.14023	0.01;0.002	T	0.32214	-0.9915	10	0.06625	T	0.88	.	6.2697	0.20947	0.0:0.3113:0.0:0.6887	.	20;20	Q92854-2;Q92854	.;SEM4D_HUMAN	A	20	ENSP00000344923:T20A;ENSP00000391733:T20A;ENSP00000411981:T20A;ENSP00000343418:T20A;ENSP00000416523:T20A;ENSP00000405102:T20A;ENSP00000348822:T20A;ENSP00000388768:T20A;ENSP00000390754:T20A;ENSP00000413352:T20A	ENSP00000344923:T20A	T	-	1	0	SEMA4D	91210134	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.436000	0.21526	-0.003000	0.14444	0.374000	0.22700	ACA	.	.		0.607	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378	
NUTM2F	54754	hgsc.bcm.edu	37	9	97080944	97080944	+	Missense_Mutation	SNP	G	G	C	rs150455117	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:97080944G>C	ENST00000253262.4	-	7	2094	c.2074C>G	c.(2074-2076)Cct>Gct	p.P692A	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.P677A	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	692																	TTGCTGGCAGGAGAAGGTGAT	0.607																																					p.P692A		Atlas-SNP	.											.	FAM22F	72	.	0			c.C2074G						.						21.0	19.0	20.0					9																	97080944		1843	4069	5912	SO:0001583	missense	54754	exon7			TGGCAGGAGAAGG		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2074C>G	chr9.hg19:g.97080944G>C	ENSP00000253262:p.Pro692Ala	352.0	0.0		326.0	17.0	NM_017561	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	hg19	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.581686	0.00879	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.14640	2.49;2.52	1.52	-3.04	0.05412	Nuclear Testis protein, C-terminal (1);	2.077270	0.02242	N	0.065820	T	0.12561	0.0305	L	0.56769	1.78	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.30621	-0.9972	10	0.09084	T	0.74	.	5.0244	0.14378	0.1751:0.5512:0.2738:0.0	.	692	A1L443	FA22F_HUMAN	A	692;677;526	ENSP00000253262:P692A;ENSP00000343865:P677A	ENSP00000253262:P692A	P	-	1	0	FAM22F	96120765	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.495000	0.06443	-1.287000	0.02381	-0.518000	0.04402	CCT	.	.		0.607	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
SVEP1	79987	hgsc.bcm.edu	37	9	113169740	113169740	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:113169740A>G	ENST00000401783.2	-	38	8476	c.8140T>C	c.(8140-8142)Tca>Cca	p.S2714P	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2691P|SVEP1_ENST00000297826.5_Missense_Mutation_p.S640P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2714	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTCAATTGAAATGCAGGAT	0.463																																					p.S2714P		Atlas-SNP	.											.	SVEP1	326	.	0			c.T8140C						.						140.0	138.0	139.0					9																	113169740		1963	4173	6136	SO:0001583	missense	79987	exon38			CAATTGAAATGCA	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8140T>C	chr9.hg19:g.113169740A>G	ENSP00000384917:p.Ser2714Pro	109.0	0.0		131.0	7.0	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	8.616	0.890207	0.17613	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.22539	1.95;1.95;1.95	5.87	5.87	0.94306	Sushi/SCR/CCP (1);	0.061117	0.64402	D	0.000002	T	0.08492	0.0211	N	0.01809	-0.71	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28744	-1.0034	10	0.29301	T	0.29	.	10.5898	0.45304	0.9285:0.0:0.0715:0.0	.	2714	Q4LDE5	SVEP1_HUMAN	P	2714;2691;640;386	ENSP00000384917:S2714P;ENSP00000363593:S2691P;ENSP00000297826:S640P	ENSP00000297826:S640P	S	-	1	0	SVEP1	112209561	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	5.099000	0.64554	2.247000	0.74100	0.477000	0.44152	TCA	.	.		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
C5	727	hgsc.bcm.edu	37	9	123738976	123738976	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:123738976A>G	ENST00000223642.1	-	29	3894		c.e29+1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AAGAAATGTTACCTGGGTTGA	0.423																																					.		Atlas-SNP	.											.	C5	124	.	0			c.3864+2T>C						.						117.0	117.0	117.0					9																	123738976		2203	4300	6503	SO:0001630	splice_region_variant	727	exon30			AATGTTACCTGGG	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3864+1T>C	chr9.hg19:g.123738976A>G		95.0	0.0		80.0	4.0	NM_001735	Q14CJ0|Q27I61	Splice_Site	SNP	ENST00000223642.1	hg19	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858801	0.71834	.	.	ENSG00000106804	ENST00000223642	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5733	0.68226	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5	122778797	1.000000	0.71417	0.980000	0.43619	0.818000	0.46254	6.503000	0.73699	2.024000	0.59613	0.460000	0.39030	.	.	.		0.423	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	Intron
C5	727	hgsc.bcm.edu	37	9	123776212	123776212	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:123776212A>G	ENST00000223642.1	-	17	2225	c.2196T>C	c.(2194-2196)tgT>tgC	p.C732C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	732	Anaphylatoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00022}.				activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTGCGACGACACAACATTCAG	0.438																																					p.C732C		Atlas-SNP	.											.	C5	124	.	0			c.T2196C						.						169.0	145.0	153.0					9																	123776212		2203	4300	6503	SO:0001819	synonymous_variant	727	exon17			GACGACACAACAT	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.2196T>C	chr9.hg19:g.123776212A>G		129.0	0.0		87.0	4.0	NM_001735	Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	hg19	CCDS6826.1																																																																																			.	.		0.438	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
RAB14	51552	hgsc.bcm.edu	37	9	123952841	123952841	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:123952841T>C	ENST00000373840.4	-	4	512	c.275A>G	c.(274-276)gAt>gGt	p.D92G		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	92					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCTAGTGATATCATAGACCAT	0.373																																					p.D92G		Atlas-SNP	.											.	RAB14	14	.	0			c.A275G						.						72.0	76.0	75.0					9																	123952841		2203	4300	6503	SO:0001583	missense	51552	exon4			GTGATATCATAGA	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.275A>G	chr9.hg19:g.123952841T>C	ENSP00000362946:p.Asp92Gly	72.0	0.0		70.0	4.0	NM_016322	B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Missense_Mutation	SNP	ENST00000373840.4	hg19	CCDS6827.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723595	0.89298	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	D;T	0.87179	-2.22;-1.39	5.26	5.26	0.73747	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95984	0.8692	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97465	1.0037	10	0.87932	D	0	.	14.3488	0.66685	0.0:0.0:0.0:1.0	.	92	P61106	RAB14_HUMAN	G	92	ENSP00000362946:D92G;ENSP00000400107:D92G	ENSP00000362946:D92G	D	-	2	0	RAB14	122992662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.985000	0.57927	0.528000	0.53228	GAT	.	.		0.373	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322	
OR1L6	392390	hgsc.bcm.edu	37	9	125512279	125512279	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:125512279C>T	ENST00000373684.1	+	1	261	c.261C>T	c.(259-261)taC>taT	p.Y87Y	OR1L6_ENST00000304720.2_Silent_p.Y51Y			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CGGCCATCTACTCTGACCCCA	0.502																																					p.Y51Y		Atlas-SNP	.											.	OR1L6	31	.	0			c.C153T						.						142.0	132.0	135.0					9																	125512279		2203	4300	6503	SO:0001819	synonymous_variant	392390	exon1			CATCTACTCTGAC		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.261C>T	chr9.hg19:g.125512279C>T		311.0	0.0		228.0	45.0	NM_001004453	Q6IFM8|Q96R80	Silent	SNP	ENST00000373684.1	hg19																																																																																				.	.		0.502	OR1L6-201	KNOWN	basic	protein_coding	protein_coding			
HSPA5	3309	hgsc.bcm.edu	37	9	128000515	128000515	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:128000515A>G	ENST00000324460.6	-	7	1510	c.1307T>C	c.(1306-1308)cTg>cCg	p.L436P		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	436					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CCTTGGAATCAGTTTGGTCAT	0.398										Prostate(1;0.17)																											p.L436P		Atlas-SNP	.											.	HSPA5	41	.	0			c.T1307C						.						134.0	122.0	126.0					9																	128000515		2203	4300	6503	SO:0001583	missense	3309	exon7			GGAATCAGTTTGG		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1307T>C	chr9.hg19:g.128000515A>G	ENSP00000324173:p.Leu436Pro	77.0	0.0		69.0	4.0	NM_005347	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	hg19	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466116	0.84425	.	.	ENSG00000044574	ENST00000324460	T	0.08102	3.13	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.51007	0.1649	H	0.99914	4.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74569	-0.3622	10	0.87932	D	0	-14.4956	13.1949	0.59732	1.0:0.0:0.0:0.0	.	436	P11021	GRP78_HUMAN	P	436	ENSP00000324173:L436P	ENSP00000324173:L436P	L	-	2	0	HSPA5	127040336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.701000	0.51217	0.455000	0.32223	CTG	.	.		0.398	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1		
GPSM1	26086	hgsc.bcm.edu	37	9	139244074	139244074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:139244074G>A	ENST00000440944.1	+	11	1534	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	438	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CAGGGGACTGGCGGGGGCCCA	0.672																																					p.W438X		Atlas-SNP	.											.	GPSM1	50	.	0			c.G1314A						.						10.0	8.0	9.0					9																	139244074		1799	3685	5484	SO:0001587	stop_gained	26086	exon11			GGACTGGCGGGGG	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1314G>A	chr9.hg19:g.139244074G>A	ENSP00000392828:p.Trp438*	115.0	0.0		86.0	30.0	NM_001145638	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Nonsense_Mutation	SNP	ENST00000440944.1	hg19	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	G	39	7.514064	0.98332	.	.	ENSG00000160360	ENST00000440944;ENST00000354753	.	.	.	4.62	3.71	0.42584	.	1.552250	0.03955	N	0.289137	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-21.9443	10.0713	0.42335	0.1004:0.0:0.8996:0.0	.	.	.	.	X	438;415	.	ENSP00000346797:W415X	W	+	3	0	GPSM1	138363895	0.894000	0.30519	1.000000	0.80357	0.994000	0.84299	2.672000	0.46850	2.268000	0.75426	0.655000	0.94253	TGG	.	.		0.672	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597	
ABCA2	20	hgsc.bcm.edu	37	9	139910249	139910249	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr9:139910249T>C	ENST00000371605.3	-	22	3536	c.3389A>G	c.(3388-3390)aAg>aGg	p.K1130R	ABCA2_ENST00000341511.6_Missense_Mutation_p.K1131R|ABCA2_ENST00000265662.5_Missense_Mutation_p.K1131R|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1130	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACGGACAGCTTGCGCTTCAT	0.672																																					p.K1161R		Atlas-SNP	.											.	ABCA2	113	.	0			c.A3482G						.						40.0	45.0	44.0					9																	139910249		2184	4284	6468	SO:0001583	missense	20	exon23			GACAGCTTGCGCT	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3389A>G	chr9.hg19:g.139910249T>C	ENSP00000360666:p.Lys1130Arg	247.0	0.0		192.0	8.0	NM_212533	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	hg19		.	.	.	.	.	.	.	.	.	.	T	16.96	3.265931	0.59540	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.99709	-6.48;-6.48;-6.48	4.2	4.2	0.49525	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	U	0.000000	D	0.98782	0.9590	N	0.04320	-0.23	0.52501	D	0.999955	D;D	0.58970	0.984;0.972	P;D	0.64877	0.866;0.93	D	0.99308	1.0903	10	0.54805	T	0.06	.	13.2433	0.60010	0.0:0.0:0.0:1.0	.	1130;1161	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	R	1131;1130;1161;1131	ENSP00000265662:K1131R;ENSP00000360666:K1130R;ENSP00000344155:K1131R	ENSP00000265662:K1131R	K	-	2	0	ABCA2	139030070	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	6.113000	0.71553	1.531000	0.49152	0.260000	0.18958	AAG	.	.		0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	
BMI1	648	hgsc.bcm.edu	37	10	22616563	22616563	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:22616563T>C	ENST00000376663.3	+	4	754	c.249T>C	c.(247-249)gtT>gtC	p.V83V	COMMD3-BMI1_ENST00000602390.1_Silent_p.V226V	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	83					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ACAAATTAGTTCCAGGGCTTT	0.279																																					p.V226V		Atlas-SNP	.											BMI1,NS,carcinoma,0,1	.	.	.	0			c.T678C						.						53.0	61.0	59.0					10																	22616563		2195	4291	6486	SO:0001819	synonymous_variant	0	exon8			ATTAGTTCCAGGG	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.249T>C	chr10.hg19:g.22616563T>C		66.0	0.0		41.0	3.0	NM_001204062	Q16030|Q5T8Z3|Q96F37	Silent	SNP	ENST00000376663.3	hg19	CCDS7138.1																																																																																			.	.		0.279	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180	
ERCC6	2074	hgsc.bcm.edu	37	10	50690818	50690818	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:50690818C>A	ENST00000355832.5	-	10	2162	c.2084G>T	c.(2083-2085)gGa>gTa	p.G695V	ERCC6_ENST00000542458.1_Missense_Mutation_p.G65V	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	695	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCTAACTTTCCCGGGAAGAT	0.488								Direct reversal of damage;Nucleotide excision repair (NER)																													p.C695F		Atlas-SNP	.											.	ERCC6	162	.	0			c.G2084T						.						104.0	96.0	99.0					10																	50690818		2203	4300	6503	SO:0001583	missense	2074	exon10			AACTTTCCCGGGA	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2084G>T	chr10.hg19:g.50690818C>A	ENSP00000348089:p.Gly695Val	95.0	0.0		77.0	6.0	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	hg19	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052049	0.93793	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.94576	-3.46;-3.46	5.68	5.68	0.88126	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.98201	0.9405	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99069	1.0833	9	0.72032	D	0.01	-25.5945	17.9728	0.89118	0.0:1.0:0.0:0.0	.	695;104	Q03468;Q59FF6	ERCC6_HUMAN;.	V	695;104;65	ENSP00000348089:G695V;ENSP00000445134:G65V	ENSP00000348089:G695V	G	-	2	0	ERCC6	50360824	1.000000	0.71417	0.655000	0.29622	0.991000	0.79684	7.796000	0.85898	2.693000	0.91896	0.655000	0.94253	GGA	.	.		0.488	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
CDH23	64072	hgsc.bcm.edu	37	10	73567345	73567345	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:73567345A>G	ENST00000224721.6	+	58	8401	c.8396A>G	c.(8395-8397)gAg>gGg	p.E2799G	CDH23_ENST00000398788.3_Missense_Mutation_p.E554G|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2794	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGGACCGGGAGCGAGAAGCC	0.622																																					p.E2794G		Atlas-SNP	.											.	CDH23	365	.	0			c.A8381G						.						37.0	42.0	40.0					10																	73567345		2104	4224	6328	SO:0001583	missense	64072	exon57			ACCGGGAGCGAGA	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8396A>G	chr10.hg19:g.73567345A>G	ENSP00000224721:p.Glu2799Gly	105.0	0.0		94.0	4.0	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	hg19		.	.	.	.	.	.	.	.	.	.	A	28.1	4.894188	0.91889	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.73047	-0.71	5.61	5.61	0.85477	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91715	0.5384	10	0.87932	D	0	.	15.7813	0.78264	1.0:0.0:0.0:0.0	.	2794;2794	E9PEX1;Q9H251	.;CAD23_HUMAN	G	2799;2794;2797;554	ENSP00000381768:E554G	ENSP00000224721:E2799G	E	+	2	0	CDH23	73237351	1.000000	0.71417	0.970000	0.41538	0.980000	0.70556	9.300000	0.96151	2.138000	0.66242	0.450000	0.29827	GAG	.	.		0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
KAT6B	23522	hgsc.bcm.edu	37	10	76602779	76602779	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:76602779T>C	ENST00000287239.4	+	3	653	c.164T>C	c.(163-165)gTt>gCt	p.V55A	KAT6B_ENST00000372711.1_Missense_Mutation_p.V55A|KAT6B_ENST00000372725.1_Missense_Mutation_p.V55A|KAT6B_ENST00000372724.1_Missense_Mutation_p.V55A|KAT6B_ENST00000372714.1_Missense_Mutation_p.V55A	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	55					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAACTCAGTGTTCAGGATGGC	0.488																																					p.V55A		Atlas-SNP	.											.	.	.	.	0			c.T164C						.						113.0	107.0	109.0					10																	76602779		2203	4300	6503	SO:0001583	missense	23522	exon3			TCAGTGTTCAGGA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.164T>C	chr10.hg19:g.76602779T>C	ENSP00000287239:p.Val55Ala	101.0	0.0		101.0	5.0	NM_001256469	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	hg19	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380571	0.61845	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.83250	-1.54;-1.54;-1.7;-1.54;-1.61	6.17	6.17	0.99709	.	0.000000	0.41500	D	0.000879	D	0.91771	0.7397	M	0.83223	2.63	0.40395	D	0.979587	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.77557	0.99;0.99;0.978	D	0.93029	0.6447	10	0.87932	D	0	-9.2844	16.8222	0.85835	0.0:0.0:0.0:1.0	.	55;55;55	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	A	55	ENSP00000361810:V55A;ENSP00000361809:V55A;ENSP00000287239:V55A;ENSP00000361799:V55A;ENSP00000361796:V55A	ENSP00000287239:V55A	V	+	2	0	KAT6B	76272785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	GTT	.	.		0.488	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
KCNMA1	3778	hgsc.bcm.edu	37	10	78832856	78832856	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:78832856T>C	ENST00000286628.8	-	14	1747	c.1748A>G	c.(1747-1749)aAg>aGg	p.K583R	KCNMA1_ENST00000286627.5_Splice_Site_p.K583R|KCNMA1_ENST00000354353.5_Splice_Site_p.K583R|KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000372443.1_Splice_Site_p.K583R|KCNMA1_ENST00000406533.3_Splice_Site_p.K583R|KCNMA1_ENST00000404857.1_Splice_Site_p.K583R|KCNMA1_ENST00000372440.1_Splice_Site_p.K583R|KCNMA1_ENST00000404771.3_Splice_Site_p.K583R	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	583					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AGACGTTACCTTTATGAATGA	0.507																																					p.K583R		Atlas-SNP	.											.	KCNMA1	370	.	0			c.A1748G						.						97.0	81.0	86.0					10																	78832856		2203	4300	6503	SO:0001630	splice_region_variant	3778	exon14			GTTACCTTTATGA	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1749+1A>G	chr10.hg19:g.78832856T>C		124.0	0.0		99.0	5.0	NM_001161352	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.377367|3.377367	0.61735|0.61735	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403;ENST00000428546	T;T;T;T;T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Potassium channel, calcium-activated, BK, alpha subunit (1);|.	0.094303|.	0.64402|.	D|.	0.000001|.	T|T	0.59307|0.59307	0.2184|0.2184	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B;B|.	0.25486|.	0.127;0.004;0.001;0.037;0.003;0.009;0.102;0.001|.	B;B;B;B;B;B;B;B|.	0.31812|.	0.136;0.026;0.004;0.046;0.009;0.028;0.126;0.006|.	T|T	0.55386|0.55386	-0.8149|-0.8149	10|5	0.33940|.	T|.	0.23|.	-16.0588|-16.0588	16.2806|16.2806	0.82678|0.82678	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	583;583;583;583;583;365;583;583|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	R|G	583;520;518;557;520;583;583;557;583;583;583;365|534;67	ENSP00000361517:K583R;ENSP00000361485:K520R;ENSP00000361514:K518R;ENSP00000396608:K557R;ENSP00000361520:K583R;ENSP00000286627:K583R;ENSP00000385552:K583R;ENSP00000346321:K583R;ENSP00000385806:K583R|.	ENSP00000286627:K583R|.	K|R	-|-	2|1	0|2	KCNMA1|KCNMA1	78502862|78502862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	2.248000|2.248000	0.74166|0.74166	0.533000|0.533000	0.62120|0.62120	AAG|AGA	.	.		0.507	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Missense_Mutation
POLR3A	11128	hgsc.bcm.edu	37	10	79752965	79752965	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:79752965T>C	ENST00000372371.3	-	20	2914	c.2777A>G	c.(2776-2778)gAc>gGc	p.D926G		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	926					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTGATGTTGTCCAGAACCCT	0.383																																					p.D926G		Atlas-SNP	.											.	POLR3A	104	.	0			c.A2777G						.						130.0	131.0	131.0					10																	79752965		2203	4300	6503	SO:0001583	missense	11128	exon20			ATGTTGTCCAGAA	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2777A>G	chr10.hg19:g.79752965T>C	ENSP00000361446:p.Asp926Gly	76.0	0.0		57.0	4.0	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	hg19	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372988	0.61624	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.67171	-0.25	5.74	5.74	0.90152	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.67625	2.065	0.80722	D	1	B	0.24675	0.109	B	0.27170	0.077	T	0.62723	-0.6794	9	.	.	.	-42.5692	16.3426	0.83092	0.0:0.0:0.0:1.0	.	926	O14802	RPC1_HUMAN	G	926	ENSP00000361446:D926G	.	D	-	2	0	POLR3A	79422971	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.655000	0.83696	2.317000	0.78254	0.460000	0.39030	GAC	.	.		0.383	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
LDB3	11155	hgsc.bcm.edu	37	10	88459081	88459081	+	Missense_Mutation	SNP	C	C	T	rs121908335		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:88459081C>T	ENST00000372066.3	+	8	881	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	LDB3_ENST00000361373.4_Intron|LDB3_ENST00000372056.4_Missense_Mutation_p.R383C|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.R315C|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000542786.1_3'UTR	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGCCAAATTGCGCAACTGGCA	0.512																																					p.R383C		Atlas-SNP	.											.	LDB3	164	.	0			c.C1147T	GRCh37	CM050286	LDB3	M	rs121908335	.	C	,CYS/ARG,CYS/ARG,,CYS/ARG,	0,3846		0,0,1923	162.0	173.0	169.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,943,802,,1147,	5.1	1.0	10	dbSNP_133	169	1,8283		0,1,4141	no	intron,missense,missense,intron,missense,intron	LDB3	NM_001080114.1,NM_001080115.1,NM_001080116.1,NM_001171610.1,NM_001171611.1,NM_007078.2	,180,180,,180,	0,1,6064	TT,TC,CC		0.0121,0.0,0.0082	,,,,,	,315/331,268/284,,383/399,	88459081	1,12129	1923	4142	6065	SO:0001583	missense	11155	exon8			AAATTGCGCAACT	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.802C>T	chr10.hg19:g.88459081C>T	ENSP00000361136:p.Arg268Cys	72.0	0.0		104.0	19.0	NM_001171611		Missense_Mutation	SNP	ENST00000372066.3	hg19	CCDS41545.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478303	0.84747	0.0	1.21E-4	ENSG00000122367	ENST00000372066;ENST00000372056;ENST00000310944	T;T;T	0.50548	0.86;0.74;0.95	5.06	5.06	0.68205	.	.	.	.	.	T	0.65831	0.2729	L	0.55990	1.75	0.80722	A	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.76071	0.966;0.987;0.809	T	0.68161	-0.5482	8	0.87932	D	0	.	18.6293	0.91354	0.0:1.0:0.0:0.0	.	383;315;268	O75112-4;O75112-5;O75112-6	.;.;.	C	268;383;315	ENSP00000361136:R268C;ENSP00000361126:R383C;ENSP00000311913:R315C	ENSP00000311913:R315C	R	+	1	0	LDB3	88449061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.468000	0.60162	2.642000	0.89623	0.561000	0.74099	CGC	.	.		0.512	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1		
ATAD1	84896	hgsc.bcm.edu	37	10	89550120	89550120	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:89550120G>A	ENST00000308448.7	-	4	707	c.329C>T	c.(328-330)cCt>cTt	p.P110L	ATAD1_ENST00000328142.3_Missense_Mutation_p.P110L|ATAD1_ENST00000541004.1_Missense_Mutation_p.P110L|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000400215.3_Missense_Mutation_p.P52L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	110					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CTTTTTGATAGGTAAGATGAC	0.358																																					p.P110L		Atlas-SNP	.											.	ATAD1	32	.	0			c.C329T						.						120.0	113.0	115.0					10																	89550120		2203	4300	6503	SO:0001583	missense	84896	exon4			TTGATAGGTAAGA	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.329C>T	chr10.hg19:g.89550120G>A	ENSP00000339017:p.Pro110Leu	80.0	0.0		79.0	25.0	NM_032810	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	hg19	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529721	0.85706	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.97688	-4.02;-4.02;-4.49;-4.23	5.4	4.5	0.54988	.	0.047500	0.85682	D	0.000000	D	0.99013	0.9663	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.99410	1.0930	9	.	.	.	-10.6677	14.1714	0.65512	0.0725:0.0:0.9275:0.0	.	52;110	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	L	110;110;52;110	ENSP00000339017:P110L;ENSP00000339016:P110L;ENSP00000412968:P52L;ENSP00000445500:P110L	.	P	-	2	0	ATAD1	89540100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.404000	0.46819	0.563000	0.77884	CCT	.	.		0.358	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810	
PCGF5	84333	hgsc.bcm.edu	37	10	93021180	93021180	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:93021180A>G	ENST00000336126.5	+	7	804	c.572A>G	c.(571-573)gAg>gGg	p.E191G	PCGF5_ENST00000543648.1_Splice_Site_p.E191G	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AGTTCTTATGAGGTAAGTTAA	0.249																																					p.E191G	Colon(178;732 2696 46441 50370)	Atlas-SNP	.											.	PCGF5	29	.	0			c.A572G						.						18.0	20.0	19.0					10																	93021180		2162	4250	6412	SO:0001630	splice_region_variant	84333	exon7			CTTATGAGGTAAG	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.573+1A>G	chr10.hg19:g.93021180A>G		101.0	0.0		82.0	4.0	NM_001256549	B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	ENST00000336126.5	hg19	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647610	0.87958	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.51071	0.72;0.72	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.74881	2.28	0.80722	D	1	D	0.67145	0.996	P	0.58331	0.837	T	0.69694	-0.5076	10	0.66056	D	0.02	-19.9095	15.5816	0.76448	1.0:0.0:0.0:0.0	.	191	Q86SE9	PCGF5_HUMAN	G	191	ENSP00000445704:E191G;ENSP00000337500:E191G	ENSP00000337500:E191G	E	+	2	0	PCGF5	93011160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.068000	0.61886	0.459000	0.35465	GAG	.	.		0.249	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373	Missense_Mutation
CYP2C18	1562	hgsc.bcm.edu	37	10	96447910	96447910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:96447910G>A	ENST00000285979.6	+	3	559	c.360G>A	c.(358-360)tgG>tgA	p.W120*	CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.W120*	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	120					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GAAAGAGATGGAAGGAGATCC	0.522																																					p.W120X		Atlas-SNP	.											.	CYP2C18	79	.	0			c.G360A						.						107.0	97.0	101.0					10																	96447910		2203	4300	6503	SO:0001587	stop_gained	1562	exon3			GAGATGGAAGGAG	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.360G>A	chr10.hg19:g.96447910G>A	ENSP00000285979:p.Trp120*	240.0	0.0		187.0	57.0	NM_000772	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Nonsense_Mutation	SNP	ENST00000285979.6	hg19	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	41	8.602818	0.98881	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.63	3.72	0.42706	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5565	0.45121	0.0964:0.0:0.9035:0.0	.	.	.	.	X	120	.	ENSP00000285979:W120X	W	+	3	0	CYP2C18	96437900	1.000000	0.71417	0.618000	0.29105	0.786000	0.44442	6.855000	0.75445	0.934000	0.37316	0.306000	0.20318	TGG	.	.		0.522	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
CNNM2	54805	hgsc.bcm.edu	37	10	104679481	104679481	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:104679481T>C	ENST00000369878.4	+	1	1432	c.1244T>C	c.(1243-1245)cTg>cCg	p.L415P	CNNM2_ENST00000433628.2_Missense_Mutation_p.L415P|CNNM2_ENST00000369875.3_Missense_Mutation_p.L415P	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	415	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAAAACTGCTGGAGATGCTC	0.587																																					p.L415P		Atlas-SNP	.											.	CNNM2	119	.	0			c.T1244C						.						83.0	83.0	83.0					10																	104679481		2203	4300	6503	SO:0001583	missense	54805	exon1			AACTGCTGGAGAT	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1244T>C	chr10.hg19:g.104679481T>C	ENSP00000358894:p.Leu415Pro	38.0	0.0		61.0	4.0	NM_199076	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	hg19	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132250	0.56828	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;D;D	0.88431	-2.38;-2.38;-2.38	4.44	4.44	0.53790	Domain of unknown function DUF21 (1);	0.000000	0.64402	D	0.000001	D	0.93831	0.8027	M	0.80183	2.485	0.80722	D	1	D;D;D	0.69078	0.958;0.966;0.997	P;P;D	0.72075	0.759;0.884;0.976	D	0.93853	0.7147	10	0.48119	T	0.1	.	13.7183	0.62712	0.0:0.0:0.0:1.0	.	415;415;415	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	P	415	ENSP00000392875:L415P;ENSP00000358891:L415P;ENSP00000358894:L415P	ENSP00000286899:L415P	L	+	2	0	CNNM2	104669471	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.027000	0.88791	1.620000	0.50308	0.459000	0.35465	CTG	.	.		0.587	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
ADD3	120	hgsc.bcm.edu	37	10	111883829	111883829	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:111883829C>T	ENST00000356080.4	+	10	1565	c.1198C>T	c.(1198-1200)Cac>Tac	p.H400Y	ADD3_ENST00000360162.3_Missense_Mutation_p.H400Y|ADD3_ENST00000277900.8_Missense_Mutation_p.H400Y	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	400						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAGCCTAGGCACAAGAGTGA	0.463																																					p.H400Y		Atlas-SNP	.											.	ADD3	89	.	0			c.C1198T						.						120.0	102.0	108.0					10																	111883829		2203	4300	6503	SO:0001583	missense	120	exon10			CCTAGGCACAAGA	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1198C>T	chr10.hg19:g.111883829C>T	ENSP00000348381:p.His400Tyr	87.0	0.0		81.0	4.0	NM_001121	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	hg19	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444614	0.83993	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.19105	2.17;2.17;2.17	6.03	6.03	0.97812	.	0.088845	0.85682	D	0.000000	T	0.47303	0.1438	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.71674	0.995;0.998	D;D	0.66847	0.922;0.947	T	0.19614	-1.0300	10	0.52906	T	0.07	-12.5626	20.5568	0.99304	0.0:1.0:0.0:0.0	.	400;400	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	Y	400	ENSP00000353286:H400Y;ENSP00000348381:H400Y;ENSP00000277900:H400Y	ENSP00000277900:H400Y	H	+	1	0	ADD3	111873819	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	1.976000	0.40579	2.861000	0.98227	0.655000	0.94253	CAC	.	.		0.463	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903	
PLEKHA1	59338	hgsc.bcm.edu	37	10	124189346	124189346	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:124189346A>G	ENST00000368990.3	+	12	1238	c.1107A>G	c.(1105-1107)aaA>aaG	p.K369K	PLEKHA1_ENST00000433307.1_Silent_p.K369K|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.K383R|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.K383R|PLEKHA1_ENST00000538022.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	369					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGCTTCCAAAGTGACTGAAC	0.483																																					p.K369K		Atlas-SNP	.											.	PLEKHA1	33	.	0			c.A1107G						.						88.0	84.0	86.0					10																	124189346		2203	4300	6503	SO:0001819	synonymous_variant	59338	exon12			TTCCAAAGTGACT	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.1107A>G	chr10.hg19:g.124189346A>G		73.0	0.0		78.0	4.0	NM_021622	B3KQ55|D3DRE2|Q9BVK0	Silent	SNP	ENST00000368990.3	hg19	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729278	0.69074	.	.	ENSG00000107679	ENST00000368989;ENST00000368988	T;T	0.08984	3.03;3.03	5.71	5.71	0.89125	.	0.845137	0.11289	N	0.579490	T	0.25791	0.0628	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00186	-1.1942	7	0.87932	D	0	-15.2412	16.2826	0.82703	1.0:0.0:0.0:0.0	.	.	.	.	R	383	ENSP00000357985:K383R;ENSP00000357984:K383R	ENSP00000357984:K383R	K	+	2	0	PLEKHA1	124179336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.536000	0.82023	2.307000	0.77673	0.528000	0.53228	AAG	.	.		0.483	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974	
CUZD1	50624	hgsc.bcm.edu	37	10	124595749	124595749	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:124595749A>G	ENST00000368904.1	-	8	1884	c.935T>C	c.(934-936)tTa>tCa	p.L312S	CUZD1_ENST00000545804.1_Missense_Mutation_p.L312S|CUZD1_ENST00000392790.1_Missense_Mutation_p.L312S					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AACATTTGATAATTTTGGTCT	0.368																																					p.L312S		Atlas-SNP	.											.	CUZD1	82	.	0			c.T935C						.						149.0	149.0	149.0					10																	124595749		2203	4300	6503	SO:0001583	missense	50624	exon6			TTTGATAATTTTG	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.935T>C	chr10.hg19:g.124595749A>G	ENSP00000357900:p.Leu312Ser	129.0	0.0		94.0	4.0	NM_022034		Missense_Mutation	SNP	ENST00000368904.1	hg19	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	A	6.746	0.506385	0.12883	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000368899;ENST00000545804;ENST00000392790	T;T;T	0.80994	-1.44;-1.44;-1.44	5.07	5.07	0.68467	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.440893	0.24332	N	0.039454	T	0.54727	0.1876	N	0.04260	-0.245	0.09310	N	1	B	0.18610	0.029	B	0.13407	0.009	T	0.41251	-0.9519	10	0.10636	T	0.68	-4.5698	5.8441	0.18652	0.78:0.0:0.22:0.0	.	312	Q86UP6	CUZD1_HUMAN	S	312;31;31;31;312;312	ENSP00000357900:L312S;ENSP00000441590:L312S;ENSP00000376540:L312S	ENSP00000357895:L31S	L	-	2	0	CUZD1	124585739	0.017000	0.18338	0.105000	0.21289	0.707000	0.40811	2.525000	0.45598	1.902000	0.55061	0.533000	0.62120	TTA	.	.		0.368	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
INPP5A	3632	hgsc.bcm.edu	37	10	134563079	134563079	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr10:134563079T>C	ENST00000368594.3	+	10	1068	c.791T>C	c.(790-792)gTg>gCg	p.V264A	INPP5A_ENST00000368593.3_Missense_Mutation_p.V264A	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	264					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AATGAAGTGGTGAAGCTCATA	0.617																																					p.V264A	Pancreas(63;823 1267 11107 20380 51626)	Atlas-SNP	.											.	INPP5A	77	.	0			c.T791C						.						78.0	68.0	71.0					10																	134563079		2203	4300	6503	SO:0001583	missense	3632	exon10			AAGTGGTGAAGCT	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.791T>C	chr10.hg19:g.134563079T>C	ENSP00000357583:p.Val264Ala	81.0	0.0		97.0	4.0	NM_005539	D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	hg19	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	T	9.235	1.036697	0.19669	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.43688	0.94;0.95	4.92	4.92	0.64577	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.117705	0.56097	D	0.000034	T	0.27134	0.0665	N	0.19112	0.55	0.39337	D	0.965516	P;P	0.38280	0.625;0.625	B;B	0.39971	0.315;0.315	T	0.08576	-1.0715	10	0.11485	T	0.65	-3.3339	10.186	0.42998	0.1484:0.0:0.0:0.8516	.	264;264	Q14642;Q5T1B5	I5P1_HUMAN;.	A	264;264;181	ENSP00000357583:V264A;ENSP00000357582:V264A	ENSP00000357582:V264A	V	+	2	0	INPP5A	134413069	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.492000	0.66893	1.981000	0.57761	0.533000	0.62120	GTG	.	.		0.617	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539	
KRTAP5-1	387264	hgsc.bcm.edu	37	11	1606421	1606421	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:1606421C>G	ENST00000382171.2	-	1	92	c.59G>C	c.(58-60)gGc>gCc	p.G20A	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	20						keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCACAGCCGGAGCCACA	0.677																																					p.G20A		Atlas-SNP	.											.	KRTAP5-1	74	.	0			c.G59C						.						39.0	50.0	47.0					11																	1606421		2172	4259	6431	SO:0001583	missense	387264	exon1			CCACAGCCGGAGC	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.59G>C	chr11.hg19:g.1606421C>G	ENSP00000371606:p.Gly20Ala	190.0	0.0		145.0	62.0	NM_001005922		Missense_Mutation	SNP	ENST00000382171.2	hg19	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	C	0.885	-0.727559	0.03158	.	.	ENSG00000205869	ENST00000382171	T	0.04317	3.65	2.84	2.84	0.33178	.	.	.	.	.	T	0.07143	0.0181	L	0.60455	1.87	0.25427	N	0.98821	B	0.29612	0.251	B	0.35114	0.196	T	0.31971	-0.9924	9	0.10902	T	0.67	.	11.8714	0.52523	0.0:1.0:0.0:0.0	.	20	Q6L8H4	KRA51_HUMAN	A	20	ENSP00000371606:G20A	ENSP00000371606:G20A	G	-	2	0	KRTAP5-1	1562997	0.000000	0.05858	0.988000	0.46212	0.046000	0.14306	0.505000	0.22642	1.535000	0.49220	0.313000	0.20887	GGC	.	.		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922	
CARS	833	hgsc.bcm.edu	37	11	3059341	3059341	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:3059341T>C	ENST00000397111.5	-	6	736	c.491A>G	c.(490-492)gAg>gGg	p.E164G	CARS_ENST00000380525.4_Missense_Mutation_p.E247G|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397114.3_Missense_Mutation_p.E154G|CARS_ENST00000278224.9_Missense_Mutation_p.E164G|CARS_ENST00000401769.3_Missense_Mutation_p.E177G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	164					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTCAAGTGGCTCTGTGGCAAG	0.517			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E247G	Ovarian(61;932 1157 5961 20446 52152)	Atlas-SNP	.		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	.	CARS	114	.	0			c.A740G						.						165.0	145.0	152.0					11																	3059341		2202	4298	6500	SO:0001583	missense	833	exon7			AGTGGCTCTGTGG	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.491A>G	chr11.hg19:g.3059341T>C	ENSP00000380300:p.Glu164Gly	111.0	0.0	608	94.0	4.0	NM_001014437	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	hg19	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471278	0.26423	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.46063	0.89;0.89;0.89;0.89;0.88	3.86	2.73	0.32206	.	0.537151	0.19577	N	0.110958	T	0.33847	0.0877	L	0.54965	1.715	0.31284	N	0.690211	B;B;B;B;B;B	0.12013	0.005;0.002;0.003;0.004;0.001;0.005	B;B;B;B;B;B	0.15870	0.014;0.013;0.013;0.005;0.008;0.008	T	0.29852	-0.9998	10	0.25106	T	0.35	-26.438	7.6555	0.28373	0.0:0.0986:0.0:0.9014	.	177;247;164;164;247;154	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	G	247;164;164;154;177	ENSP00000369897:E247G;ENSP00000380300:E164G;ENSP00000278224:E164G;ENSP00000380303:E154G;ENSP00000384069:E177G	ENSP00000278224:E164G	E	-	2	0	CARS	3015917	0.076000	0.21285	0.009000	0.14445	0.021000	0.10359	0.563000	0.23547	0.557000	0.29117	0.459000	0.35465	GAG	.	.		0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751	
RRM1	6240	hgsc.bcm.edu	37	11	4127341	4127341	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:4127341T>C	ENST00000300738.5	+	3	378	c.174T>C	c.(172-174)acT>acC	p.T58T	RRM1_ENST00000423050.2_Intron	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	58	ATP-cone. {ECO:0000255|PROSITE- ProRule:PRU00492}.				cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AACTAGATACTTTGGCTGCTG	0.443																																					p.T58T	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	Atlas-SNP	.											.	RRM1	31	.	0			c.T174C						.						98.0	84.0	89.0					11																	4127341		2201	4298	6499	SO:0001819	synonymous_variant	6240	exon3			AGATACTTTGGCT	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.174T>C	chr11.hg19:g.4127341T>C		71.0	0.0		65.0	4.0	NM_001033	Q9UNN2	Silent	SNP	ENST00000300738.5	hg19	CCDS7750.1																																																																																			.	.		0.443	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033	
SBF2	81846	hgsc.bcm.edu	37	11	9871706	9871706	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:9871706T>C	ENST00000256190.8	-	22	2807	c.2670A>G	c.(2668-2670)cgA>cgG	p.R890R	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	890	GRAM.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCAGCAAGACTCGAAGACCCT	0.473																																					p.R890R		Atlas-SNP	.											.	SBF2	146	.	0			c.A2670G						.						99.0	99.0	99.0					11																	9871706		2201	4294	6495	SO:0001819	synonymous_variant	81846	exon22			CAAGACTCGAAGA	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2670A>G	chr11.hg19:g.9871706T>C		97.0	0.0		99.0	4.0	NM_030962	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	hg19	CCDS31427.1																																																																																			.	.		0.473	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
PDE3B	5140	hgsc.bcm.edu	37	11	14666012	14666012	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:14666012T>C	ENST00000282096.4	+	1	744	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L	PDE3B_ENST00000455098.2_Missense_Mutation_p.F131L|PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000534317.1_3'UTR	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	131					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TGCCTTCTTCTTCCTCACCTG	0.706																																					p.F131L		Atlas-SNP	.											.	PDE3B	98	.	0			c.T391C						.						34.0	37.0	36.0					11																	14666012		2199	4294	6493	SO:0001583	missense	5140	exon1			TTCTTCTTCCTCA	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.391T>C	chr11.hg19:g.14666012T>C	ENSP00000282096:p.Phe131Leu	139.0	0.0		100.0	4.0	NM_000922	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	hg19	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	T	34	5.346196	0.95807	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.69926	-0.28;-0.44	3.92	3.92	0.45320	.	4.099390	0.00447	N	0.000085	T	0.66761	0.2822	L	0.43152	1.355	0.49389	D	0.999781	P;P;P	0.52842	0.793;0.793;0.956	B;B;B	0.43123	0.283;0.283;0.409	T	0.58781	-0.7576	10	0.66056	D	0.02	.	12.4706	0.55785	0.0:0.0:0.0:1.0	.	131;131;131	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	L	131	ENSP00000282096:F131L;ENSP00000388644:F131L	ENSP00000282096:F131L	F	+	1	0	PDE3B	14622588	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	6.931000	0.75863	1.433000	0.47394	0.260000	0.18958	TTC	.	.		0.706	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
GTF2H1	2965	hgsc.bcm.edu	37	11	18373439	18373439	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:18373439A>G	ENST00000265963.4	+	10	1225	c.1065A>G	c.(1063-1065)caA>caG	p.Q355Q	GTF2H1_ENST00000453096.2_Silent_p.Q355Q|GTF2H1_ENST00000534641.1_Silent_p.Q239Q|GTF2H1_ENST00000526630.2_5'UTR|GTF2H1_ENST00000530496.2_Silent_p.Q43Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	355					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CGAAATTACAAGAGTCCATTG	0.313								Nucleotide excision repair (NER)																													p.Q355Q		Atlas-SNP	.											.	GTF2H1	35	.	0			c.A1065G						.						80.0	91.0	87.0					11																	18373439		2199	4292	6491	SO:0001819	synonymous_variant	2965	exon11			ATTACAAGAGTCC		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1065A>G	chr11.hg19:g.18373439A>G		89.0	0.0		78.0	4.0	NM_001142307	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	hg19	CCDS7838.1																																																																																			.	.		0.313	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316	
NAV2	89797	hgsc.bcm.edu	37	11	20066708	20066708	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:20066708C>G	ENST00000396087.3	+	15	3562	c.3463C>G	c.(3463-3465)Ctg>Gtg	p.L1155V	NAV2_ENST00000360655.4_Missense_Mutation_p.L1068V|NAV2_ENST00000349880.4_Missense_Mutation_p.L1132V|NAV2_ENST00000540292.1_Missense_Mutation_p.L1086V|NAV2_ENST00000396085.1_Missense_Mutation_p.L1132V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.L218V|NAV2_ENST00000533917.1_Missense_Mutation_p.L218V|NAV2_ENST00000527559.2_Missense_Mutation_p.L1084V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1155					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGCCGCCGGCCTGGCCATGAT	0.587																																					p.L1155V		Atlas-SNP	.											.	NAV2	255	.	0			c.C3463G						.						73.0	71.0	72.0					11																	20066708		2203	4300	6503	SO:0001583	missense	89797	exon15			GCCGGCCTGGCCA	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3463C>G	chr11.hg19:g.20066708C>G	ENSP00000379396:p.Leu1155Val	78.0	0.0		54.0	12.0	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	0.147	-1.095834	0.01858	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.9	4.05	0.47172	.	0.124126	0.36591	N	0.002504	T	0.13200	0.0320	N	0.08118	0	0.31055	N	0.71483	B;B;B;B;B	0.14012	0.009;0.005;0.007;0.004;0.007	B;B;B;B;B	0.09377	0.003;0.002;0.004;0.004;0.004	T	0.16188	-1.0411	9	.	.	.	.	6.2904	0.21057	0.2349:0.6146:0.0:0.1505	.	1155;218;218;1132;1068	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	V	1068;1132;1132;1155;1084;1086;218;218;218;218	ENSP00000353871:L1068V;ENSP00000379394:L1132V;ENSP00000309577:L1132V;ENSP00000379396:L1155V;ENSP00000435395:L1084V;ENSP00000443489:L1086V;ENSP00000437316:L218V;ENSP00000437136:L218V;ENSP00000312169:L218V	.	L	+	1	2	NAV2	20023284	0.914000	0.31030	0.963000	0.40424	0.647000	0.38526	1.702000	0.37836	0.844000	0.35094	0.650000	0.86243	CTG	.	.		0.587	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NAV2	89797	hgsc.bcm.edu	37	11	20066858	20066858	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:20066858C>T	ENST00000396087.3	+	15	3712	c.3613C>T	c.(3613-3615)Cta>Tta	p.L1205L	NAV2_ENST00000360655.4_Silent_p.L1118L|NAV2_ENST00000349880.4_Silent_p.L1182L|NAV2_ENST00000540292.1_Silent_p.L1136L|NAV2_ENST00000396085.1_Silent_p.L1182L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Silent_p.L268L|NAV2_ENST00000533917.1_Silent_p.L268L|NAV2_ENST00000527559.2_Silent_p.L1134L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1205					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTATCTAGCCCTAAGCTCCCG	0.557																																					p.L1205L		Atlas-SNP	.											.	NAV2	255	.	0			c.C3613T						.						68.0	64.0	66.0					11																	20066858		2203	4300	6503	SO:0001819	synonymous_variant	89797	exon15			CTAGCCCTAAGCT	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3613C>T	chr11.hg19:g.20066858C>T		139.0	0.0		98.0	4.0	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	hg19	CCDS58126.1																																																																																			.	.		0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
ANO5	203859	hgsc.bcm.edu	37	11	22271814	22271814	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:22271814T>C	ENST00000324559.8	+	10	1227	c.910T>C	c.(910-912)Ttt>Ctt	p.F304L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	304					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGTATCTATTTTGTCTTTCT	0.308																																					p.F304L		Atlas-SNP	.											.	ANO5	162	.	0			c.T910C						.						110.0	100.0	103.0					11																	22271814		2203	4300	6503	SO:0001583	missense	203859	exon10			ATCTATTTTGTCT	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.910T>C	chr11.hg19:g.22271814T>C	ENSP00000315371:p.Phe304Leu	151.0	0.0		93.0	4.0	NM_213599		Missense_Mutation	SNP	ENST00000324559.8	hg19	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	T	32	5.118758	0.94385	.	.	ENSG00000171714	ENST00000324559	D	0.84298	-1.83	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	H	0.96691	3.865	0.80722	D	1	P	0.51791	0.948	P	0.56563	0.801	D	0.95785	0.8820	10	0.87932	D	0	.	15.4423	0.75195	0.0:0.0:0.0:1.0	.	304	Q75V66	ANO5_HUMAN	L	304	ENSP00000315371:F304L	ENSP00000315371:F304L	F	+	1	0	ANO5	22228390	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.641000	0.83368	2.044000	0.60594	0.455000	0.32223	TTT	.	.		0.308	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
ANO3	63982	hgsc.bcm.edu	37	11	26664762	26664762	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:26664762C>T	ENST00000256737.3	+	23	3161	c.2309C>T	c.(2308-2310)gCg>gTg	p.A770V	ANO3_ENST00000531568.1_Missense_Mutation_p.A624V|ANO3_ENST00000537978.1_Missense_Mutation_p.A754V|ANO3_ENST00000525139.1_Missense_Mutation_p.A754V	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	770					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCTTTGTTGCGGCTTTTCCT	0.378																																					p.A770V		Atlas-SNP	.											.	ANO3	145	.	0			c.C2309T						.						122.0	110.0	114.0					11																	26664762		2203	4299	6502	SO:0001583	missense	63982	exon23			TTGTTGCGGCTTT	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2309C>T	chr11.hg19:g.26664762C>T	ENSP00000256737:p.Ala770Val	171.0	0.0		137.0	41.0	NM_031418	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400902	0.96030	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81451	0.4825	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.81035	-0.1115	10	0.52906	T	0.07	.	19.7537	0.96281	0.0:1.0:0.0:0.0	.	672;770	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	V	754;754;770;672;624	ENSP00000440737:A754V;ENSP00000432576:A754V;ENSP00000256737:A770V;ENSP00000432394:A624V	ENSP00000256737:A770V	A	+	2	0	ANO3	26621338	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.764000	0.85297	2.676000	0.91093	0.655000	0.94253	GCG	.	.		0.378	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
FBXO3	26273	hgsc.bcm.edu	37	11	33790501	33790501	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:33790501T>C	ENST00000265651.3	-	3	272	c.254A>G	c.(253-255)gAt>gGt	p.D85G	FBXO3_ENST00000448981.2_Missense_Mutation_p.D85G|FBXO3_ENST00000534136.1_Missense_Mutation_p.D85G|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000530401.1_Missense_Mutation_p.D80G|FBXO3_ENST00000533103.1_5'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	85					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCTTCCTACATCAGAGTAAGT	0.353																																					p.D85G		Atlas-SNP	.											.	FBXO3	37	.	0			c.A254G						.						192.0	186.0	188.0					11																	33790501		2202	4298	6500	SO:0001583	missense	26273	exon3			CCTACATCAGAGT	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.254A>G	chr11.hg19:g.33790501T>C	ENSP00000265651:p.Asp85Gly	110.0	0.0		64.0	4.0	NM_012175	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	hg19	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225980	0.58668	.	.	ENSG00000110429	ENST00000265651;ENST00000321458;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T	0.47177	0.85;0.86;0.88;0.89	5.99	5.99	0.97316	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	M	0.62723	1.935	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.985	D;P;P	0.62955	0.909;0.794;0.643	T	0.66131	-0.6000	10	0.62326	D	0.03	-26.0063	14.7241	0.69329	0.0:0.0:0.0:1.0	.	80;85;85	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	G	85;82;80;85;85	ENSP00000265651:D85G;ENSP00000433781:D80G;ENSP00000431745:D85G;ENSP00000408836:D85G	ENSP00000265651:D85G	D	-	2	0	FBXO3	33747077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.919000	0.70005	2.291000	0.77112	0.533000	0.62120	GAT	.	.		0.353	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175	
NAT10	55226	hgsc.bcm.edu	37	11	34158255	34158255	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:34158255A>G	ENST00000257829.3	+	20	2301	c.2095A>G	c.(2095-2097)Aat>Gat	p.N699D	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.N627D	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	699	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTCAAATTGAATGAGAGGCC	0.552																																					p.N699D		Atlas-SNP	.											.	NAT10	78	.	0			c.A2095G						.						105.0	104.0	104.0					11																	34158255		2202	4298	6500	SO:0001583	missense	55226	exon20			AAATTGAATGAGA	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2095A>G	chr11.hg19:g.34158255A>G	ENSP00000257829:p.Asn699Asp	142.0	0.0		117.0	5.0	NM_024662	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	hg19	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013960	0.54468	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.29142	1.58;1.59	5.4	5.4	0.78164	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.200002	0.64402	D	0.000010	T	0.23289	0.0563	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.03202	-1.1061	10	0.31617	T	0.26	-19.4285	15.4304	0.75092	1.0:0.0:0.0:0.0	.	699	Q9H0A0	NAT10_HUMAN	D	699;627	ENSP00000257829:N699D;ENSP00000433011:N627D	ENSP00000257829:N699D	N	+	1	0	NAT10	34114831	1.000000	0.71417	0.848000	0.33437	0.662000	0.39071	7.493000	0.81493	2.052000	0.61016	0.459000	0.35465	AAT	.	.		0.552	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662	
SPI1	6688	hgsc.bcm.edu	37	11	47380449	47380449	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:47380449C>T	ENST00000378538.3	-	4	661	c.439G>A	c.(439-441)Gac>Aac	p.D147N	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.D147N|SPI1_ENST00000227163.4_Missense_Mutation_p.D148N	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	147					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GCCTCGCCGTCAGACACCTCC	0.726																																					p.D148N		Atlas-SNP	.											.	SPI1	21	.	0			c.G442A						.						10.0	11.0	11.0					11																	47380449		2179	4268	6447	SO:0001583	missense	6688	exon4			CGCCGTCAGACAC	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.439G>A	chr11.hg19:g.47380449C>T	ENSP00000367799:p.Asp147Asn	171.0	0.0		124.0	5.0	NM_001080547		Missense_Mutation	SNP	ENST00000378538.3	hg19	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	C	31	5.075186	0.94000	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T;T	0.39787	1.06;1.06;1.06	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;1.0	T	0.72620	-0.4238	10	0.56958	D	0.05	-25.5606	17.2182	0.86950	0.0:1.0:0.0:0.0	.	147;147;148	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	N	147;148;147	ENSP00000367799:D147N;ENSP00000227163:D148N;ENSP00000438846:D147N	ENSP00000227163:D148N	D	-	1	0	SPI1	47337025	1.000000	0.71417	0.863000	0.33907	0.870000	0.49936	7.246000	0.78247	2.117000	0.64856	0.561000	0.74099	GAC	.	.		0.726	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120	
OR5I1	10798	hgsc.bcm.edu	37	11	55702999	55702999	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:55702999C>T	ENST00000301532.3	-	1	877	c.878G>A	c.(877-879)aGt>aAt	p.S293N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	293					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTTCTCAAACTATAAATCAA	0.353																																					p.S293N		Atlas-SNP	.											OR5I1,NS,chondrosarcoma,0,1	OR5I1	110	.	0			c.G878A						.						65.0	63.0	64.0					11																	55702999		2200	4294	6494	SO:0001583	missense	10798	exon1			CTCAAACTATAAA	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.878G>A	chr11.hg19:g.55702999C>T	ENSP00000301532:p.Ser293Asn	81.0	0.0		49.0	2.0	NM_006637	Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	hg19	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746736	0.30955	.	.	ENSG00000167825	ENST00000301532	T	0.39056	1.1	4.96	4.96	0.65561	.	0.112392	0.40144	N	0.001161	T	0.62245	0.2412	H	0.99299	4.505	0.27187	N	0.960529	P	0.36282	0.546	B	0.29353	0.101	T	0.71550	-0.4559	10	0.87932	D	0	.	16.0689	0.80909	0.0:1.0:0.0:0.0	.	293	Q13606	OR5I1_HUMAN	N	293	ENSP00000301532:S293N	ENSP00000301532:S293N	S	-	2	0	OR5I1	55459575	0.000000	0.05858	0.094000	0.20943	0.486000	0.33341	1.129000	0.31381	2.442000	0.82660	0.643000	0.83706	AGT	.	.		0.353	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
SMTNL1	219537	hgsc.bcm.edu	37	11	57310650	57310650	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:57310650A>G	ENST00000399154.2	+	1	535	c.535A>G	c.(535-537)Aca>Gca	p.T179A	SMTNL1_ENST00000457912.1_Missense_Mutation_p.T197A|SMTNL1_ENST00000527972.1_Missense_Mutation_p.T179A			A8MU46	SMTL1_HUMAN	smoothelin-like 1	179	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TCAGGAGGAGACAGGCCAGAG	0.542																																					p.T179A		Atlas-SNP	.											.	SMTNL1	68	.	0			c.A535G						.						48.0	53.0	51.0					11																	57310650		2091	4216	6307	SO:0001583	missense	219537	exon1			GAGGAGACAGGCC	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.535A>G	chr11.hg19:g.57310650A>G	ENSP00000382108:p.Thr179Ala	91.0	0.0		77.0	4.0	NM_001105565		Missense_Mutation	SNP	ENST00000399154.2	hg19		.	.	.	.	.	.	.	.	.	.	A	0.029	-1.350853	0.01256	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02552	4.25;4.25;4.28	3.99	-3.59	0.04583	.	1.595290	0.05188	N	0.502618	T	0.01320	0.0043	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48958	-0.8988	10	0.09843	T	0.71	.	8.4473	0.32849	0.2327:0.1592:0.6081:0.0	.	197	C9J621	.	A	197;179;179	ENSP00000406485:T197A;ENSP00000432651:T179A;ENSP00000382108:T179A	ENSP00000382108:T179A	T	+	1	0	SMTNL1	57067226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.429000	0.21412	-0.538000	0.06281	-0.256000	0.11100	ACA	.	.		0.542	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203	
BTBD18	643376	hgsc.bcm.edu	37	11	57513286	57513286	+	Silent	SNP	A	A	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:57513286A>C	ENST00000436147.3	-	2	646	c.459T>G	c.(457-459)tcT>tcG	p.S153S	BTBD18_ENST00000422652.1_Silent_p.S153S|TMX2-CTNND1_ENST00000528395.1_Intron|RP11-691N7.6_ENST00000531074.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	153										endometrium(3)|kidney(1)	4						CCACTCTGGCAGAGATTGGTG	0.552																																					p.S153S		Atlas-SNP	.											.	BTBD18	26	.	0			c.T459G						.						58.0	52.0	53.0					11																	57513286		692	1591	2283	SO:0001819	synonymous_variant	643376	exon3			TCTGGCAGAGATT		CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.459T>G	chr11.hg19:g.57513286A>C		135.0	0.0		122.0	5.0	NM_001145101		Silent	SNP	ENST00000436147.3	hg19	CCDS44603.1																																																																																			.	.		0.552	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393718.2	NM_001145101	
OR5A1	219982	hgsc.bcm.edu	37	11	59211305	59211305	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:59211305G>T	ENST00000302030.2	+	1	689	c.664G>T	c.(664-666)Ggt>Tgt	p.G222C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TATCTCCTATGGTTACATAGT	0.532																																					p.G222C		Atlas-SNP	.											.	OR5A1	72	.	0			c.G664T						.						225.0	204.0	211.0					11																	59211305		2201	4295	6496	SO:0001583	missense	219982	exon1			TCCTATGGTTACA	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.664G>T	chr11.hg19:g.59211305G>T	ENSP00000303096:p.Gly222Cys	201.0	0.0		135.0	24.0	NM_001004728	B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	hg19	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	7.376	0.627884	0.14257	.	.	ENSG00000172320	ENST00000302030	T	0.00107	8.72	5.98	-4.11	0.03928	GPCR, rhodopsin-like superfamily (1);	0.819845	0.10903	N	0.621456	T	0.00300	0.0009	M	0.66439	2.03	0.09310	N	1	D	0.53312	0.959	P	0.61800	0.894	T	0.27806	-1.0063	10	0.28530	T	0.3	-0.0131	9.6614	0.39958	0.3212:0.0:0.5648:0.114	.	222	Q8NGJ0	OR5A1_HUMAN	C	222	ENSP00000303096:G222C	ENSP00000303096:G222C	G	+	1	0	OR5A1	58967881	0.000000	0.05858	0.419000	0.26584	0.002000	0.02628	-0.846000	0.04336	-0.648000	0.05437	-0.781000	0.03364	GGT	.	.		0.532	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
PATL1	219988	hgsc.bcm.edu	37	11	59415324	59415324	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:59415324C>T	ENST00000300146.9	-	15	1880	c.1796G>A	c.(1795-1797)cGt>cAt	p.R599H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	599	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGGAAGAATACGGGCAACCAT	0.468																																					p.R599H		Atlas-SNP	.											PATL1_ENST00000300146,NS,carcinoma,0,2	PATL1	92	.	0			c.G1796A						.						121.0	112.0	115.0					11																	59415324		1939	4145	6084	SO:0001583	missense	219988	exon15			AGAATACGGGCAA	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1796G>A	chr11.hg19:g.59415324C>T	ENSP00000300146:p.Arg599His	96.0	0.0		76.0	4.0	NM_152716	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	hg19	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510461	0.96386	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.79247	-1.25	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88305	0.2952	10	0.66056	D	0.02	-12.6748	20.2312	0.98350	0.0:1.0:0.0:0.0	.	569;599	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	H	599;569	ENSP00000300146:R599H	ENSP00000300146:R599H	R	-	2	0	PATL1	59171900	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.380000	0.79704	2.882000	0.98803	0.655000	0.94253	CGT	.	.		0.468	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716	
SNX32	254122	hgsc.bcm.edu	37	11	65618862	65618862	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:65618862A>G	ENST00000308342.6	+	8	1198	c.773A>G	c.(772-774)aAc>aGc	p.N258S		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	258					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CAGGAAGTCAACCAGCTAAGG	0.557											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N258S		Atlas-SNP	.											.	SNX32	46	.	0			c.A773G						.						100.0	86.0	91.0					11																	65618862		2201	4297	6498	SO:0001583	missense	254122	exon8			AAGTCAACCAGCT	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.773A>G	chr11.hg19:g.65618862A>G	ENSP00000310620:p.Asn258Ser	65.0	0.0	1085	51.0	4.0	NM_152760	Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	hg19	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310563	0.23821	.	.	ENSG00000172803	ENST00000308342	T	0.26518	1.73	5.73	3.39	0.38822	Vps5 C-terminal (1);	0.114234	0.39407	N	0.001369	T	0.10465	0.0256	N	0.10972	0.075	0.25035	N	0.991241	B	0.22604	0.072	B	0.23419	0.046	T	0.26467	-1.0102	10	0.17832	T	0.49	-17.0534	2.6412	0.04971	0.6167:0.1546:0.0803:0.1484	.	258	Q86XE0	SNX32_HUMAN	S	258	ENSP00000310620:N258S	ENSP00000310620:N258S	N	+	2	0	SNX32	65375438	0.042000	0.20092	0.629000	0.29254	0.998000	0.95712	0.561000	0.23515	0.424000	0.26061	0.533000	0.62120	AAC	.	.		0.557	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760	
ACY3	91703	hgsc.bcm.edu	37	11	67412312	67412312	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:67412312T>C	ENST00000255082.3	-	7	833	c.663A>G	c.(661-663)gaA>gaG	p.E221E	ACY3_ENST00000529256.1_Silent_p.E100E	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	221	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GTCTATAGGCTTCCATCTCAA	0.647																																					p.E221E	GBM(56;346 1011 27014 29495 46841)	Atlas-SNP	.											.	ACY3	27	.	0			c.A663G						.						50.0	38.0	42.0					11																	67412312		2193	4289	6482	SO:0001819	synonymous_variant	91703	exon7			ATAGGCTTCCATC	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.663A>G	chr11.hg19:g.67412312T>C		130.0	0.0		93.0	4.0	NM_080658		Silent	SNP	ENST00000255082.3	hg19	CCDS8175.1																																																																																			.	.		0.647	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658	
GAL	51083	hgsc.bcm.edu	37	11	68453108	68453108	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:68453108T>C	ENST00000265643.3	+	3	386	c.128T>C	c.(127-129)cTg>cCg	p.L43P		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	43					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		GGCTACCTGCTGGGCCCACGT	0.642																																					p.L43P		Atlas-SNP	.											.	GAL	11	.	0			c.T128C						.						74.0	60.0	65.0					11																	68453108		2200	4294	6494	SO:0001583	missense	51083	exon3			ACCTGCTGGGCCC	L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.128T>C	chr11.hg19:g.68453108T>C	ENSP00000265643:p.Leu43Pro	65.0	0.0		60.0	4.0	NM_015973	Q14413	Missense_Mutation	SNP	ENST00000265643.3	hg19	CCDS8183.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486515	0.44249	.	.	ENSG00000069482	ENST00000265643	T	0.60672	0.17	3.36	3.36	0.38483	Galanin (4);	0.000000	0.64402	D	0.000010	T	0.72137	0.3423	M	0.78801	2.425	0.26695	N	0.971273	D	0.89917	1.0	D	0.91635	0.999	T	0.63005	-0.6733	10	0.87932	D	0	-22.3649	8.0973	0.30835	0.0:0.0:0.0:1.0	.	43	P22466	GALA_HUMAN	P	43	ENSP00000265643:L43P	ENSP00000265643:L43P	L	+	2	0	GAL	68209684	0.778000	0.28640	0.386000	0.26170	0.841000	0.47740	4.018000	0.57174	1.397000	0.46682	0.459000	0.35465	CTG	.	.		0.642	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396843.2	NM_001479	
FCHSD2	9873	hgsc.bcm.edu	37	11	72551974	72551974	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:72551974A>G	ENST00000409418.4	-	19	2470	c.2087T>C	c.(2086-2088)tTc>tCc	p.F696S	FCHSD2_ENST00000409314.1_Missense_Mutation_p.F720S|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409263.1_Missense_Mutation_p.F57S|FCHSD2_ENST00000311172.7_Missense_Mutation_p.F640S|FCHSD2_ENST00000458644.2_Missense_Mutation_p.F560S	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	696										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TGCCTGTGAGAATCCTGGTGA	0.433																																					p.F696S		Atlas-SNP	.											.	FCHSD2	106	.	0			c.T2087C						.						116.0	103.0	108.0					11																	72551974		2200	4293	6493	SO:0001583	missense	9873	exon19			TGTGAGAATCCTG	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.2087T>C	chr11.hg19:g.72551974A>G	ENSP00000386722:p.Phe696Ser	74.0	0.0		67.0	4.0	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	hg19	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757369	0.69648	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409263;ENST00000458644	T;T;T;T	0.14144	2.56;2.67;2.68;2.53	5.3	4.16	0.48862	.	0.442270	0.24307	N	0.039674	T	0.07863	0.0197	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.24621	-1.0155	10	0.15499	T	0.54	-24.1839	6.5325	0.22334	0.7643:0.1581:0.0776:0.0	.	560;696	E7ENZ2;O94868	.;FCSD2_HUMAN	S	640;720;696;57;560	ENSP00000308978:F640S;ENSP00000386987:F720S;ENSP00000386722:F696S;ENSP00000402972:F560S	ENSP00000308978:F640S	F	-	2	0	FCHSD2	72229622	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.613000	0.54152	1.011000	0.39340	0.460000	0.39030	TTC	.	.		0.433	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
TYR	7299	hgsc.bcm.edu	37	11	88911210	88911210	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:88911210T>C	ENST00000263321.5	+	1	591	c.89T>C	c.(88-90)cTg>cCg	p.L30P	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	30					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TCTAAGAACCTGATGGAGAAG	0.542																																					p.L30P		Atlas-SNP	.											.	TYR	130	.	0			c.T89C						.						78.0	77.0	77.0					11																	88911210		2201	4299	6500	SO:0001583	missense	7299	exon1			AGAACCTGATGGA	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.89T>C	chr11.hg19:g.88911210T>C	ENSP00000263321:p.Leu30Pro	114.0	0.0		100.0	4.0	NM_000372	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	hg19	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028925	0.75504	.	.	ENSG00000077498	ENST00000263321	D	0.99405	-5.84	6.07	6.07	0.98685	.	0.151799	0.46145	D	0.000319	D	0.99606	0.9857	M	0.92459	3.31	0.80722	D	1	D	0.56746	0.977	D	0.64506	0.926	D	0.97914	1.0310	9	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	30	P14679	TYRO_HUMAN	P	30	ENSP00000263321:L30P	.	L	+	2	0	TYR	88550858	1.000000	0.71417	0.985000	0.45067	0.829000	0.46940	7.571000	0.82399	2.326000	0.78906	0.533000	0.62120	CTG	.	.		0.542	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372	
KIAA1731	85459	hgsc.bcm.edu	37	11	93455128	93455128	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:93455128A>G	ENST00000325212.6	+	20	6021	c.5859A>G	c.(5857-5859)acA>acG	p.T1953T	SCARNA9_ENST00000362805.1_RNA|SCARNA9_ENST00000364329.1_RNA|SCARNA9_ENST00000530422.1_RNA|Y_RNA_ENST00000363005.1_RNA|KIAA1731_ENST00000531700.1_Silent_p.T133T|KIAA1731_ENST00000344196.4_Silent_p.T133T|KIAA1731_ENST00000411936.1_Silent_p.T1953T			Q9C0D2	K1731_HUMAN	KIAA1731	1953						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGCTAAAACACTGTCTTATG	0.398																																					p.T1953T		Atlas-SNP	.											.	KIAA1731	173	.	0			c.A5859G						.						258.0	212.0	226.0					11																	93455128		692	1591	2283	SO:0001819	synonymous_variant	85459	exon20			TAAAACACTGTCT	AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5859A>G	chr11.hg19:g.93455128A>G		103.0	0.0		66.0	4.0	NM_033395	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Silent	SNP	ENST00000325212.6	hg19	CCDS44708.1																																																																																			.	.		0.398	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394640.1	NM_033395	
PGR	5241	hgsc.bcm.edu	37	11	100933405	100933405	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:100933405A>G	ENST00000325455.5	-	4	3438	c.1985T>C	c.(1984-1986)gTt>gCt	p.V662A	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.V68A	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	662					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTCATTTGGAACGCCCACTGG	0.418																																					p.V662A	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.T1985C						.						138.0	120.0	126.0					11																	100933405		2203	4300	6503	SO:0001583	missense	5241	exon4			TTTGGAACGCCCA	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1985T>C	chr11.hg19:g.100933405A>G	ENSP00000325120:p.Val662Ala	86.0	0.0		97.0	4.0	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	hg19	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936824	0.34189	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.86562	-1.71;-2.14	5.41	4.26	0.50523	Nuclear hormone receptor, ligand-binding (1);	0.567138	0.17572	N	0.169458	T	0.73337	0.3574	N	0.04203	-0.255	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.06405	0.002;0.001	T	0.65335	-0.6193	10	0.39692	T	0.17	.	12.4565	0.55708	0.8597:0.1402:0.0:0.0	.	662;43	P06401;A7LQ08	PRGR_HUMAN;.	A	662;68	ENSP00000325120:V662A;ENSP00000436561:V68A	ENSP00000325120:V662A	V	-	2	0	PGR	100438615	1.000000	0.71417	0.470000	0.27216	0.668000	0.39293	8.421000	0.90259	0.852000	0.35287	0.482000	0.46254	GTT	.	.		0.418	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
CWF19L2	143884	hgsc.bcm.edu	37	11	107260852	107260852	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:107260852T>C	ENST00000282251.5	-	12	1847	c.1820A>G	c.(1819-1821)aAg>aGg	p.K607R	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K607R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	607							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TGTTCCCATCTTTTCATTTTT	0.333																																					p.K607R		Atlas-SNP	.											CWF19L2_ENST00000282251,right_upper_lobe,carcinoma,0,2	CWF19L2	135	.	0			c.A1820G						.						149.0	122.0	131.0					11																	107260852		2201	4296	6497	SO:0001583	missense	143884	exon12			CCCATCTTTTCAT	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1820A>G	chr11.hg19:g.107260852T>C	ENSP00000282251:p.Lys607Arg	132.0	0.0		100.0	4.0	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	hg19	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369677	0.61624	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.29142	1.58;1.58	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.65320	2	0.58432	D	0.999997	P	0.46327	0.876	P	0.44897	0.463	T	0.13255	-1.0516	10	0.08837	T	0.75	-21.41	14.1054	0.65085	0.0:0.0:0.0:1.0	.	607	Q2TBE0	C19L2_HUMAN	R	607	ENSP00000282251:K607R;ENSP00000387533:K607R	ENSP00000282251:K607R	K	-	2	0	CWF19L2	106766062	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.828000	0.69307	2.211000	0.71520	0.460000	0.39030	AAG	.	.		0.333	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
ALKBH8	91801	hgsc.bcm.edu	37	11	107403057	107403057	+	Missense_Mutation	SNP	T	T	C	rs202093339		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:107403057T>C	ENST00000428149.2	-	8	998	c.847A>G	c.(847-849)Aca>Gca	p.T283A	ALKBH8_ENST00000389568.3_Missense_Mutation_p.T283A|ALKBH8_ENST00000417449.2_Missense_Mutation_p.T286A|ALKBH8_ENST00000429370.1_Intron	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	283	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GATTCTCCTGTCATCACCAGC	0.408																																					p.T283A		Atlas-SNP	.											.	ALKBH8	88	.	0			c.A847G						.						113.0	96.0	101.0					11																	107403057		692	1591	2283	SO:0001583	missense	91801	exon8			CTCCTGTCATCAC	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.847A>G	chr11.hg19:g.107403057T>C	ENSP00000415885:p.Thr283Ala	188.0	0.0		174.0	7.0	NM_138775	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	hg19	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	T	17.18	3.324084	0.60634	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.29397	1.57;1.57;1.57	5.01	5.01	0.66863	Oxoglutarate/iron-dependent oxygenase (2);	0.351918	0.30920	N	0.008611	T	0.31263	0.0791	L	0.42632	1.34	0.47065	D	0.9993	P;B	0.36483	0.555;0.313	B;B	0.40982	0.345;0.165	T	0.05852	-1.0860	10	0.35671	T	0.21	-16.0709	13.8922	0.63747	0.0:0.0:0.0:1.0	.	283;286	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	A	283;283;286	ENSP00000415885:T283A;ENSP00000374219:T283A;ENSP00000397673:T286A	ENSP00000374219:T283A	T	-	1	0	ALKBH8	106908267	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.448000	0.35112	1.883000	0.54544	0.533000	0.62120	ACA	.	T|1.000;A|0.000		0.408	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775	
ARHGEF12	23365	hgsc.bcm.edu	37	11	120312472	120312472	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:120312472T>C	ENST00000397843.2	+	14	1315	c.1149T>C	c.(1147-1149)gcT>gcC	p.A383A	ARHGEF12_ENST00000356641.3_Silent_p.A364A|ARHGEF12_ENST00000532993.1_Silent_p.A280A	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	383	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCGCCCGGCTCATTTGGCTG	0.378			T	MLL	AML																																p.A383A		Atlas-SNP	.		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	ARHGEF12	133	.	0			c.T1149C						.						163.0	149.0	154.0					11																	120312472		1843	4081	5924	SO:0001819	synonymous_variant	23365	exon14			CCCGGCTCATTTG	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1149T>C	chr11.hg19:g.120312472T>C		131.0	0.0		88.0	4.0	NM_015313	O15086|Q6P526	Silent	SNP	ENST00000397843.2	hg19	CCDS41727.1																																																																																			.	.		0.378	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
TECTA	7007	hgsc.bcm.edu	37	11	121060537	121060537	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:121060537T>C	ENST00000392793.1	+	23	6586	c.6315T>C	c.(6313-6315)ccT>ccC	p.P2105P	TECTA_ENST00000264037.2_Silent_p.P2105P			O75443	TECTA_HUMAN	tectorin alpha	2105					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGGATGGGCCTCTCTGCAGCT	0.567																																					p.P2105P		Atlas-SNP	.											.	TECTA	329	.	0			c.T6315C						.						125.0	116.0	119.0					11																	121060537		2203	4299	6502	SO:0001819	synonymous_variant	7007	exon22			TGGGCCTCTCTGC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6315T>C	chr11.hg19:g.121060537T>C		102.0	0.0		88.0	4.0	NM_005422		Silent	SNP	ENST00000392793.1	hg19	CCDS8434.1																																																																																			.	.		0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
KIRREL3	84623	hgsc.bcm.edu	37	11	126326264	126326264	+	Silent	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:126326264G>A	ENST00000525144.2	-	7	1077	c.828C>T	c.(826-828)aaC>aaT	p.N276N	KIRREL3_ENST00000525704.2_Silent_p.N276N|KIRREL3_ENST00000529097.2_Silent_p.N276N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	276	Ig-like C2-type 3.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGACAGCTGGGTTGGCCTTTG	0.637																																					p.N276N		Atlas-SNP	.											.	KIRREL3	183	.	0			c.C828T						.						57.0	64.0	62.0					11																	126326264		2064	4204	6268	SO:0001819	synonymous_variant	84623	exon7			AGCTGGGTTGGCC	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.828C>T	chr11.hg19:g.126326264G>A		154.0	0.0		96.0	4.0	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	hg19	CCDS53723.1																																																																																			.	.		0.637	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
IGSF9B	22997	hgsc.bcm.edu	37	11	133815970	133815970	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr11:133815970T>C	ENST00000321016.8	-	2	478	c.248A>G	c.(247-249)gAc>gGc	p.D83G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D83G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	83	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ATACTCAGGGTCCACGTGCGG	0.622																																					p.D83G		Atlas-SNP	.											.	IGSF9B	290	.	0			c.A248G						.						47.0	59.0	55.0					11																	133815970		2140	4237	6377	SO:0001583	missense	22997	exon2			TCAGGGTCCACGT	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.248A>G	chr11.hg19:g.133815970T>C	ENSP00000317980:p.Asp83Gly	128.0	0.0		95.0	4.0	NM_014987	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	hg19		.	.	.	.	.	.	.	.	.	.	T	24.5	4.539690	0.85917	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.74366	0.3707	L	0.53561	1.675	0.58432	D	0.999998	D	0.67145	0.996	D	0.71870	0.975	T	0.73300	-0.4026	10	0.38643	T	0.18	.	15.926	0.79618	0.0:0.0:0.0:1.0	.	83	Q9UPX0	TUTLB_HUMAN	G	83;83;73;130	ENSP00000317980:D83G;ENSP00000436576:D83G;ENSP00000434026:D73G;ENSP00000435989:D130G	ENSP00000317980:D83G	D	-	2	0	IGSF9B	133321180	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.938000	0.87678	2.175000	0.68902	0.533000	0.62120	GAC	.	.		0.622	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502	
ATN1	1822	hgsc.bcm.edu	37	12	7050122	7050122	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:7050122T>C	ENST00000356654.4	+	8	3531	c.3294T>C	c.(3292-3294)acT>acC	p.T1098T	C12orf57_ENST00000544681.1_5'Flank|RNU7-1_ENST00000458811.1_RNA|U47924.31_ENST00000607421.1_RNA|ATN1_ENST00000396684.2_Silent_p.T1098T|C12orf57_ENST00000537087.1_5'Flank	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1098					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CAGCTGGAACTCTCCCTAACC	0.587																																					p.T1098T		Atlas-SNP	.											.	ATN1	95	.	0			c.T3294C						.						144.0	114.0	124.0					12																	7050122		2203	4300	6503	SO:0001819	synonymous_variant	1822	exon8			TGGAACTCTCCCT	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3294T>C	chr12.hg19:g.7050122T>C		103.0	0.0		65.0	5.0	NM_001007026	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	hg19	CCDS31734.1																																																																																			.	.		0.587	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
PTPRO	5800	hgsc.bcm.edu	37	12	15668472	15668472	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:15668472G>A	ENST00000281171.4	+	8	1835	c.1505G>A	c.(1504-1506)gGt>gAt	p.G502D	PTPRO_ENST00000348962.2_Missense_Mutation_p.G502D|PTPRO_ENST00000543886.1_Missense_Mutation_p.G502D	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	502	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTGGTTCCTGGTGCCCAGTAC	0.403																																					p.G502D		Atlas-SNP	.											.	PTPRO	148	.	0			c.G1505A						.						113.0	105.0	108.0					12																	15668472		2203	4300	6503	SO:0001583	missense	5800	exon8			TTCCTGGTGCCCA	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1505G>A	chr12.hg19:g.15668472G>A	ENSP00000281171:p.Gly502Asp	151.0	0.0		95.0	4.0	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	hg19	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788610	0.90367	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.61742	0.08;0.08;0.08	4.93	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000068	T	0.65196	0.2668	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.984;0.987;1.0	P;P;D	0.97110	0.77;0.852;1.0	T	0.66428	-0.5926	10	0.48119	T	0.1	.	16.561	0.84566	0.0:0.0:1.0:0.0	.	502;502;502	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	D	502	ENSP00000281171:G502D;ENSP00000444173:G502D;ENSP00000343434:G502D	ENSP00000281171:G502D	G	+	2	0	PTPRO	15559739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.839000	0.92120	2.578000	0.87016	0.650000	0.86243	GGT	.	.		0.403	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
ANO6	196527	hgsc.bcm.edu	37	12	45803139	45803139	+	Splice_Site	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:45803139G>A	ENST00000320560.8	+	16	2082		c.e16-1		ANO6_ENST00000423947.3_Splice_Site|ANO6_ENST00000426898.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000441606.2_Splice_Site	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6						activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTTTTGGCAGCTGGATCATG	0.393																																					.		Atlas-SNP	.											.	ANO6	163	.	0			c.1944-1G>A						.						88.0	90.0	89.0					12																	45803139		2203	4300	6503	SO:0001630	splice_region_variant	196527	exon17			TTGGCAGCTGGAT	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1881-1G>A	chr12.hg19:g.45803139G>A		75.0	0.0		53.0	4.0	NM_001204803	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Splice_Site	SNP	ENST00000320560.8	hg19	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362933	0.82353	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9209	0.79570	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO6	44089406	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.390000	0.90175	2.596000	0.87737	0.655000	0.94253	.	.	.		0.393	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	Intron
CERS5	91012	hgsc.bcm.edu	37	12	50529757	50529757	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:50529757C>T	ENST00000317551.6	-	7	856	c.732G>A	c.(730-732)atG>atA	p.M244I	CERS5_ENST00000422340.2_Missense_Mutation_p.M186I	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	244	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CATGTAGACACATGATCAGAG	0.428																																					p.M244I		Atlas-SNP	.											.	.	.	.	0			c.G732A						.						132.0	122.0	125.0					12																	50529757		2203	4300	6503	SO:0001583	missense	91012	exon7			TAGACACATGATC		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.732G>A	chr12.hg19:g.50529757C>T	ENSP00000325485:p.Met244Ile	107.0	0.0		77.0	4.0	NM_147190	B4DV54	Missense_Mutation	SNP	ENST00000317551.6	hg19	CCDS8801.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.75|15.75|15.75	2.925636|2.925636|2.925636	0.52759|0.52759|0.52759	.|.|.	.|.|.	ENSG00000139624|ENSG00000139624|ENSG00000139624	ENST00000550547;ENST00000547800|ENST00000551005;ENST00000317551;ENST00000422340|ENST00000550919	.|D;D;D|.	.|0.85773|.	.|-2.03;-2.03;-2.03|.	4.35|4.35|4.35	2.43|2.43|2.43	0.29744|0.29744|0.29744	.|TRAM/LAG1/CLN8 homology domain (3);|.	.|0.234996|.	.|0.47455|.	.|D|.	.|0.000232|.	T|T|T	0.67915|0.67915|0.67915	0.2944|0.2944|0.2944	M|M|M	0.69248|0.69248|0.69248	2.105|2.105|2.105	0.42608|0.42608|0.42608	D|D|D	0.993304|0.993304|0.993304	.|B;B;B|.	.|0.27192|.	.|0.013;0.171;0.036|.	.|B;B;B|.	.|0.25759|.	.|0.038;0.063;0.036|.	T|T|T	0.65651|0.65651|0.65651	-0.6116|-0.6116|-0.6116	5|10|5	.|0.54805|.	.|T|.	.|0.06|.	-2.1121|-2.1121|-2.1121	11.1144|11.1144|11.1144	0.48252|0.48252|0.48252	0.1437:0.7178:0.1385:0.0|0.1437:0.7178:0.1385:0.0|0.1437:0.7178:0.1385:0.0	.|.|.	.|186;244;163|.	.|B4DV54;Q8N5B7;F8W0U5|.	.|.;CERS5_HUMAN;.|.	Y|I|M	46;148|163;244;186|14	.|ENSP00000447556:M163I;ENSP00000325485:M244I;ENSP00000389050:M186I|.	.|ENSP00000325485:M244I|.	C|M|V	-|-|-	2|3|1	0|0|0	CERS5|CERS5|CERS5	48816024|48816024|48816024	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	2.590000|2.590000|2.590000	0.46154|0.46154|0.46154	0.526000|0.526000|0.526000	0.28541|0.28541|0.28541	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TGT|ATG|GTG	.	.		0.428	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190	
KRT2	3849	hgsc.bcm.edu	37	12	53039093	53039093	+	Nonsense_Mutation	SNP	G	G	A	rs571471637		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:53039093G>A	ENST00000309680.3	-	9	1651	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	544	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCAGACTGTCGGCCTCCAGAG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19460	0.0		0.001	False		,,,				2504	0.0				p.R544X		Atlas-SNP	.											.	KRT2	94	.	0			c.C1630T						.						117.0	122.0	120.0					12																	53039093		2203	4300	6503	SO:0001587	stop_gained	3849	exon9			ACTGTCGGCCTCC		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1630C>T	chr12.hg19:g.53039093G>A	ENSP00000310861:p.Arg544*	74.0	0.0		67.0	13.0	NM_000423	Q4VAQ2	Nonsense_Mutation	SNP	ENST00000309680.3	hg19	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.158842	0.57368	.	.	ENSG00000172867	ENST00000309680	.	.	.	4.06	-2.84	0.05751	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	4.008	0.09610	0.1189:0.1732:0.5177:0.1902	.	.	.	.	X	544	.	ENSP00000310861:R544X	R	-	1	2	KRT2	51325360	0.000000	0.05858	0.410000	0.26471	0.327000	0.28475	-0.305000	0.08188	-0.359000	0.08150	-0.397000	0.06425	CGA	.	.		0.572	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
HOXC13	3229	hgsc.bcm.edu	37	12	54338925	54338925	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:54338925T>C	ENST00000243056.3	+	2	1034	c.878T>C	c.(877-879)aTc>aCc	p.I293T		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	293					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CGCCGGCGCATCTCCGCCACC	0.567			T	NUP98	AML																																p.I293T		Atlas-SNP	.		Dom	yes		12	12q13.3	3229	homeo box C13		L	.	HOXC13	24	.	0			c.T878C						.						67.0	73.0	71.0					12																	54338925		2203	4300	6503	SO:0001583	missense	3229	exon2			GGCGCATCTCCGC		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.878T>C	chr12.hg19:g.54338925T>C	ENSP00000243056:p.Ile293Thr	125.0	0.0		97.0	4.0	NM_017410	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	hg19	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495089	0.85069	.	.	ENSG00000123364	ENST00000243056	D	0.96619	-4.07	4.95	4.95	0.65309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98422	0.9475	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99478	1.0947	10	0.87932	D	0	.	14.0373	0.64654	0.0:0.0:0.0:1.0	.	293	P31276	HXC13_HUMAN	T	293	ENSP00000243056:I293T	ENSP00000243056:I293T	I	+	2	0	HOXC13	52625192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.797000	0.85911	2.224000	0.72417	0.533000	0.62120	ATC	.	.		0.567	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2		
ITGA7	3679	hgsc.bcm.edu	37	12	56091488	56091488	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:56091488A>G	ENST00000555728.1	-	10	1560	c.1532T>C	c.(1531-1533)gTg>gCg	p.V511A	ITGA7_ENST00000394230.2_Missense_Mutation_p.V471A|ITGA7_ENST00000452168.2_Missense_Mutation_p.V374A|ITGA7_ENST00000257879.6_Missense_Mutation_p.V467A|ITGA7_ENST00000394229.2_Missense_Mutation_p.V467A|ITGA7_ENST00000257880.7_Missense_Mutation_p.V511A|ITGA7_ENST00000553804.1_Missense_Mutation_p.V471A|ITGA7_ENST00000347027.6_Missense_Mutation_p.V467A			Q13683	ITA7_HUMAN	integrin, alpha 7	511					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTGAAGAGCACTGCGGTGTC	0.592																																					p.V471A		Atlas-SNP	.											.	ITGA7	194	.	0			c.T1412C						.						71.0	70.0	71.0					12																	56091488		2203	4300	6503	SO:0001583	missense	3679	exon9			AAGAGCACTGCGG		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1532T>C	chr12.hg19:g.56091488A>G	ENSP00000452387:p.Val511Ala	86.0	0.0		52.0	4.0	NM_001144996	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.49	1.365605	0.24684	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.28	0.256	0.15567	.	0.187105	0.34338	N	0.004060	T	0.51787	0.1695	L	0.38175	1.15	0.39978	D	0.974879	B;B;B;B	0.12630	0.001;0.001;0.0;0.006	B;B;B;B	0.16289	0.012;0.008;0.005;0.015	T	0.27839	-1.0062	10	0.14656	T	0.56	.	6.8805	0.24170	0.6017:0.0:0.3983:0.0	.	374;511;471;530	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	A	471;467;467;374;511;471;467;511;511	ENSP00000452120:V471A;ENSP00000257879:V467A;ENSP00000343009:V467A;ENSP00000393844:V374A;ENSP00000257880:V511A;ENSP00000377777:V471A;ENSP00000377776:V467A;ENSP00000452387:V511A	ENSP00000257879:V467A	V	-	2	0	ITGA7	54377755	0.000000	0.05858	0.597000	0.28824	0.129000	0.20672	0.225000	0.17757	0.202000	0.20498	0.459000	0.35465	GTG	.	.		0.592	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
SDR9C7	121214	hgsc.bcm.edu	37	12	57327766	57327766	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:57327766T>C	ENST00000293502.1	-	1	423	c.280A>G	c.(280-282)Agg>Ggg	p.R94G		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	94					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ACTTTGTCCCTCACCCACTGG	0.542																																					p.R94G		Atlas-SNP	.											.	SDR9C7	31	.	0			c.A280G						.						99.0	91.0	94.0					12																	57327766		2203	4300	6503	SO:0001583	missense	121214	exon1			TGTCCCTCACCCA	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.280A>G	chr12.hg19:g.57327766T>C	ENSP00000293502:p.Arg94Gly	51.0	0.0		50.0	5.0	NM_148897	B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	hg19	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534619	0.27475	.	.	ENSG00000170426	ENST00000293502	D	0.88046	-2.33	5.17	5.17	0.71159	NAD(P)-binding domain (1);	0.311338	0.28403	N	0.015476	T	0.80243	0.4587	N	0.25245	0.725	0.34565	D	0.712806	B	0.02656	0.0	B	0.10450	0.005	T	0.81998	-0.0675	10	0.66056	D	0.02	.	14.1369	0.65293	0.0:0.0:0.0:1.0	.	94	Q8NEX9	DR9C7_HUMAN	G	94	ENSP00000293502:R94G	ENSP00000293502:R94G	R	-	1	2	SDR9C7	55614033	0.970000	0.33590	1.000000	0.80357	0.196000	0.23810	2.201000	0.42734	2.182000	0.69389	0.528000	0.53228	AGG	.	.		0.542	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897	
C12orf66	144577	hgsc.bcm.edu	37	12	64588106	64588106	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:64588106T>C	ENST00000398055.3	-	3	907	c.854A>G	c.(853-855)gAa>gGa	p.E285G	C12orf66_ENST00000311915.8_Missense_Mutation_p.E285G|C12orf66_ENST00000544871.1_Missense_Mutation_p.E232G	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	285										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CGTTTTCATTTCTGAAGCAGT	0.398																																					p.E285G		Atlas-SNP	.											.	C12orf66	28	.	0			c.A854G						.						89.0	83.0	85.0					12																	64588106		1840	4086	5926	SO:0001583	missense	144577	exon3			TTCATTTCTGAAG		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.854A>G	chr12.hg19:g.64588106T>C	ENSP00000381132:p.Glu285Gly	117.0	0.0		97.0	4.0	NM_152440	C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	hg19	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923479	0.52653	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.56611	0.45;0.45;0.45	5.94	5.94	0.96194	.	0.043376	0.85682	D	0.000000	T	0.60431	0.2268	M	0.70275	2.135	0.80722	D	1	B;B	0.33512	0.241;0.415	B;B	0.41440	0.075;0.357	T	0.58340	-0.7653	9	.	.	.	-20.112	16.3947	0.83586	0.0:0.0:0.0:1.0	.	232;285	F5H2Q3;Q96MD2	.;CL066_HUMAN	G	285;232;285	ENSP00000311486:E285G;ENSP00000445481:E232G;ENSP00000381132:E285G	.	E	-	2	0	C12orf66	62874373	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	7.975000	0.88055	2.272000	0.75746	0.459000	0.35465	GAA	.	.		0.398	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440	
MDM1	56890	hgsc.bcm.edu	37	12	68696473	68696473	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:68696473T>C	ENST00000303145.7	-	12	1985	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P	MDM1_ENST00000411698.2_Silent_p.P598P|MDM1_ENST00000540418.1_Silent_p.P353P	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	633					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		ATGGAACATGTGGTGGAGAAG	0.408																																					p.P633P		Atlas-SNP	.											.	MDM1	74	.	0			c.A1899G						.						125.0	126.0	126.0					12																	68696473		2203	4300	6503	SO:0001819	synonymous_variant	56890	exon12			AACATGTGGTGGA	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1899A>G	chr12.hg19:g.68696473T>C		82.0	0.0		67.0	4.0	NM_017440	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	hg19	CCDS8983.1																																																																																			.	.		0.408	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	
SLC6A15	55117	hgsc.bcm.edu	37	12	85277565	85277565	+	Intron	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:85277565T>C	ENST00000266682.5	-	5	1298				SLC6A15_ENST00000450363.3_Missense_Mutation_p.T277A|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000551388.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15						amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CAGAAATCTGTAACAGAATTT	0.358																																					p.T277A		Atlas-SNP	.											.	SLC6A15	159	.	0			c.A829G						.						74.0	71.0	72.0					12																	85277565		2203	4300	6503	SO:0001627	intron_variant	55117	exon5			AATCTGTAACAGA	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.756+72A>G	chr12.hg19:g.85277565T>C		118.0	0.0		111.0	5.0	NM_018057	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	hg19	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	0.315	-0.965489	0.02249	.	.	ENSG00000072041	ENST00000450363	T	0.68624	-0.34	0.893	-0.338	0.12651	.	.	.	.	.	T	0.33990	0.0882	N	0.02674	-0.535	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16070	-1.0415	9	0.39692	T	0.17	.	2.9139	0.05746	0.0:0.3183:0.0:0.6817	.	277	Q9H9F5	.	A	277	ENSP00000390706:T277A	ENSP00000390706:T277A	T	-	1	0	SLC6A15	83801696	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.715000	0.01880	-0.128000	0.11641	-0.256000	0.11100	ACA	.	.		0.358	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
CCER1	196477	hgsc.bcm.edu	37	12	91348442	91348442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:91348442C>T	ENST00000358859.2	-	1	511	c.78G>A	c.(76-78)tgG>tgA	p.W26*	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	26																	CCGAGTGTGCCCAgccacagc	0.652																																					p.W26X		Atlas-SNP	.											.	.	.	.	0			c.G78A						.						9.0	8.0	8.0					12																	91348442		2147	4220	6367	SO:0001587	stop_gained	196477	exon1			GTGTGCCCAGCCA	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.78G>A	chr12.hg19:g.91348442C>T	ENSP00000351727:p.Trp26*	86.0	0.0		54.0	10.0	NM_152638	Q8TC47	Nonsense_Mutation	SNP	ENST00000358859.2	hg19	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	38	6.668357	0.97747	.	.	ENSG00000197651	ENST00000358859	.	.	.	5.08	4.2	0.49525	.	0.000000	0.32328	N	0.006251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4946	9.5742	0.39447	0.0:0.9051:0.0:0.0949	.	.	.	.	X	26	.	ENSP00000351727:W26X	W	-	3	0	C12orf12	89872573	0.880000	0.30214	0.790000	0.31976	0.054000	0.15201	1.208000	0.32345	1.381000	0.46364	-0.448000	0.05591	TGG	.	.		0.652	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
SLC17A8	246213	hgsc.bcm.edu	37	12	100813891	100813891	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:100813891T>C	ENST00000323346.5	+	12	2037	c.1724T>C	c.(1723-1725)cTg>cCg	p.L575P	SLC17A8_ENST00000392989.3_Missense_Mutation_p.L525P	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	575					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GAGGAAGAGCTGACATCCTAC	0.433																																					p.L575P		Atlas-SNP	.											.	SLC17A8	89	.	0			c.T1724C						.						79.0	69.0	73.0					12																	100813891		2203	4300	6503	SO:0001583	missense	246213	exon12			AAGAGCTGACATC	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1724T>C	chr12.hg19:g.100813891T>C	ENSP00000316909:p.Leu575Pro	49.0	0.0		51.0	4.0	NM_139319	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	hg19	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	T	1.997	-0.430302	0.04669	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.68903	0.06;-0.36	4.8	-9.61	0.00550	.	1.005600	0.07999	N	0.988509	T	0.31857	0.0810	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45498	-0.9257	10	0.29301	T	0.29	.	13.0811	0.59114	0.1253:0.6085:0.0:0.2662	.	575;525	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	P	575;525	ENSP00000316909:L575P;ENSP00000376715:L525P	ENSP00000316909:L575P	L	+	2	0	SLC17A8	99338022	0.068000	0.21057	0.000000	0.03702	0.449000	0.32228	0.151000	0.16283	-2.478000	0.00525	-2.300000	0.00261	CTG	.	.		0.433	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	
HECTD4	283450	hgsc.bcm.edu	37	12	112667541	112667541	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:112667541T>C	ENST00000430131.2	-	40	6359	c.5214A>G	c.(5212-5214)ggA>ggG	p.G1738G	HECTD4_ENST00000550722.1_Silent_p.G2014G|HECTD4_ENST00000377560.5_Silent_p.G1988G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1738					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTTTGAAGCCTCCAAGTGCAC	0.478																																					p.G2026G		Atlas-SNP	.											.	.	.	.	0			c.A6078G						.						180.0	181.0	181.0					12																	112667541		1951	4127	6078	SO:0001819	synonymous_variant	283450	exon41			GAAGCCTCCAAGT	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5214A>G	chr12.hg19:g.112667541T>C		112.0	0.0		88.0	4.0	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	hg19																																																																																				.	.		0.478	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
TBX5	6910	hgsc.bcm.edu	37	12	114793494	114793494	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:114793494A>G	ENST00000310346.4	-	9	2066	c.1400T>C	c.(1399-1401)gTc>gCc	p.V467A	TBX5_ENST00000405440.2_Missense_Mutation_p.V467A|TBX5_ENST00000349716.5_Missense_Mutation_p.V417A	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	467					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACACTGCCTGACCACAGGCTG	0.647																																					p.V467A	NSCLC(152;1358 1980 4050 23898 40356)	Atlas-SNP	.											.	TBX5	188	.	0			c.T1400C						.						28.0	30.0	30.0					12																	114793494		2203	4300	6503	SO:0001583	missense	6910	exon9			TGCCTGACCACAG	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1400T>C	chr12.hg19:g.114793494A>G	ENSP00000309913:p.Val467Ala	101.0	0.0		67.0	4.0	NM_000192	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	hg19	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	A	5.661	0.306532	0.10733	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.55234	0.53;0.53;0.53	5.42	3.12	0.35913	.	1.094470	0.06828	N	0.793444	T	0.37433	0.1003	L	0.27053	0.805	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10941	-1.0608	10	0.08599	T	0.76	.	8.972	0.35912	0.8514:0.0:0.1486:0.0	.	467	Q99593	TBX5_HUMAN	A	417;467;364;467	ENSP00000337723:V417A;ENSP00000309913:V467A;ENSP00000384152:V467A	ENSP00000309913:V467A	V	-	2	0	TBX5	113277877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.974000	0.49272	0.912000	0.36772	0.533000	0.62120	GTC	.	.		0.647	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
GCN1L1	10985	hgsc.bcm.edu	37	12	120587839	120587839	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:120587839A>G	ENST00000300648.6	-	35	4330	c.4318T>C	c.(4318-4320)Ttt>Ctt	p.F1440L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1440					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGAAGGCAAAGAGGGCTCCT	0.572																																					p.F1440L		Atlas-SNP	.											.	GCN1L1	207	.	0			c.T4318C						.						45.0	46.0	45.0					12																	120587839		1962	4164	6126	SO:0001583	missense	10985	exon35			AGGCAAAGAGGGC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4318T>C	chr12.hg19:g.120587839A>G	ENSP00000300648:p.Phe1440Leu	94.0	0.0		76.0	4.0	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	hg19	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683371	0.68157	.	.	ENSG00000089154	ENST00000300648	T	0.62105	0.05	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	N	0.13003	0.285	0.80722	D	1	B	0.30033	0.266	B	0.30401	0.115	T	0.41610	-0.9499	10	0.23891	T	0.37	.	15.4394	0.75171	1.0:0.0:0.0:0.0	.	1440	Q92616	GCN1L_HUMAN	L	1440	ENSP00000300648:F1440L	ENSP00000300648:F1440L	F	-	1	0	GCN1L1	119072222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.055000	0.93873	2.038000	0.60285	0.459000	0.35465	TTT	.	.		0.572	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
NCOR2	9612	hgsc.bcm.edu	37	12	124824721	124824721	+	Missense_Mutation	SNP	C	C	T	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr12:124824721C>T	ENST00000405201.1	-	37	5518	c.5518G>A	c.(5518-5520)Ggg>Agg	p.G1840R	NCOR2_ENST00000397355.1_Missense_Mutation_p.G1831R|NCOR2_ENST00000404621.1_Missense_Mutation_p.G1830R|NCOR2_ENST00000429285.2_Missense_Mutation_p.G1830R|NCOR2_ENST00000356219.3_Missense_Mutation_p.G1847R|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1401R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1851					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctg	0.711																																					p.G1840R		Atlas-SNP	.											.,32	NCOR2	475	.	0			c.G5518A						.						14.0	20.0	18.0					12																	124824721		1941	4120	6061	SO:0001583	missense	9612	exon39			CACCCCCGCCGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5518G>A	chr12.hg19:g.124824721C>T	ENSP00000384018:p.Gly1840Arg	28.0	0.0		24.0	2.0	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	hg19	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.12|12.12	1.844110|1.844110	0.32606|0.32606	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285|ENST00000440187;ENST00000453428	T;T;T;T;T;T|.	0.21191|.	2.03;2.29;2.02;2.29;2.04;2.29|.	2.64|2.64	2.64|2.64	0.31445|0.31445	.|.	0.074331|.	0.53938|.	U|.	0.000049|.	T|T	0.32704|0.32704	0.0838|0.0838	L|L	0.29908|0.29908	0.895|0.895	0.23855|0.23855	N|N	0.996651|0.996651	D;P|.	0.71674|.	0.998;0.929|.	P;B|.	0.51297|.	0.665;0.088|.	T|T	0.18650|0.18650	-1.0330|-1.0330	10|5	0.13470|.	T|.	0.59|.	.|.	8.4775|8.4775	0.33023|0.33023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1831;1840|.	C9J239;C9JFD3|.	.;.|.	R|Q	1840;1830;1847;1831;1839;1401;1830|74;169	ENSP00000384018:G1840R;ENSP00000384202:G1830R;ENSP00000348551:G1847R;ENSP00000380513:G1831R;ENSP00000385618:G1401R;ENSP00000400281:G1830R|.	ENSP00000348551:G1847R|.	G|R	-|-	1|2	0|0	NCOR2|NCOR2	123390674|123390674	0.931000|0.931000	0.31567|0.31567	0.959000|0.959000	0.39883|0.39883	0.993000|0.993000	0.82548|0.82548	-0.026000|-0.026000	0.12392|0.12392	1.307000|1.307000	0.44944|0.44944	0.491000|0.491000	0.48974|0.48974	GGG|CGG	.	.		0.711	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
FLT1	2321	hgsc.bcm.edu	37	13	28942736	28942736	+	Intron	SNP	C	C	T	rs371573097|rs200627038|rs558386334	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr13:28942736C>T	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Silent_p.S727S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.S727S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	atgatgatgacgatgatgatg	0.338																																					p.S727S		Atlas-SNP	.											.	FLT1	393	.	1	Substitution - coding silent(1)	kidney(1)	c.G2181A						.						289.0	299.0	296.0					13																	28942736		692	1591	2283	SO:0001627	intron_variant	2321	exon15			TGATGACGATGAT	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-10914G>A	chr13.hg19:g.28942736C>T		91.0	0.0		96.0	24.0	NM_001160030	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	hg19	CCDS9330.1																																																																																			.	.		0.338	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
FLT1	2321	hgsc.bcm.edu	37	13	28942739	28942739	+	Intron	SNP	T	T	C	rs371573097|rs558386334	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr13:28942739T>C	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Silent_p.S726S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	atgatgacgatgatgatgatg	0.343																																					p.S726S		Atlas-SNP	.											.	FLT1	393	.	0			c.A2178G						.						289.0	303.0	299.0					13																	28942739		692	1591	2283	SO:0001627	intron_variant	2321	exon15			TGACGATGATGAT	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-10917A>G	chr13.hg19:g.28942739T>C		52.0	0.0		58.0	31.0	NM_001160030	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	hg19	CCDS9330.1																																																																																			.	.		0.343	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
MRPS31	10240	hgsc.bcm.edu	37	13	41323319	41323319	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr13:41323319T>C	ENST00000323563.6	-	6	949	c.913A>G	c.(913-915)Aca>Gca	p.T305A	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	305						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCTCTTTTGTCCACTGGATC	0.398																																					p.T305A		Atlas-SNP	.											.	MRPS31	30	.	0			c.A913G						.						129.0	123.0	125.0					13																	41323319		2203	4300	6503	SO:0001583	missense	10240	exon6			CTTTTGTCCACTG	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.913A>G	chr13.hg19:g.41323319T>C	ENSP00000315397:p.Thr305Ala	146.0	0.0		67.0	4.0	NM_005830	B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	hg19	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.201477	0.79015	.	.	ENSG00000102738	ENST00000323563	T	0.55052	0.54	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.90309	3.105	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.81890	-0.0725	10	0.87932	D	0	.	13.4195	0.60989	0.0:0.0:0.0:1.0	.	305	Q92665	RT31_HUMAN	A	305	ENSP00000315397:T305A	ENSP00000315397:T305A	T	-	1	0	MRPS31	40221319	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	6.864000	0.75494	1.854000	0.53819	0.524000	0.50904	ACA	.	.		0.398	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2		
SLC25A30	253512	hgsc.bcm.edu	37	13	45978525	45978525	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr13:45978525C>T	ENST00000539591.1	-	4	340	c.177G>A	c.(175-177)gtG>gtA	p.V59V				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	110					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TTCCACATATCACATTTATCG	0.348																																					p.V110V		Atlas-SNP	.											.	SLC25A30	24	.	0			c.G330A						.						165.0	156.0	159.0					13																	45978525		2203	4300	6503	SO:0001819	synonymous_variant	253512	exon5			ACATATCACATTT	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.177G>A	chr13.hg19:g.45978525C>T		85.0	0.0		42.0	4.0	NM_001010875	B2RN96|B4DZK3|F5H8H8	Silent	SNP	ENST00000539591.1	hg19																																																																																				.	.		0.348	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736	
OR11G2	390439	hgsc.bcm.edu	37	14	20666184	20666184	+	Silent	SNP	C	C	G	rs74538160		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:20666184C>G	ENST00000357366.3	+	1	690	c.690C>G	c.(688-690)ggC>ggG	p.G230G		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCAAAAAAGGCCCTGTGATAG	0.458																																					p.G230G		Atlas-SNP	.											.	OR11G2	73	.	0			c.C690G						.						140.0	139.0	139.0					14																	20666184		2203	4300	6503	SO:0001819	synonymous_variant	390439	exon1			AAAAGGCCCTGTG		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.690C>G	chr14.hg19:g.20666184C>G		185.0	0.0		148.0	10.0	NM_001005503	Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	hg19	CCDS32032.1																																																																																			.	.		0.458	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
HNRNPC	3183	hgsc.bcm.edu	37	14	21699222	21699222	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:21699222A>C	ENST00000320084.7	-	3	490	c.251T>G	c.(250-252)cTg>cGg	p.L84R	HNRNPC_ENST00000557201.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000556513.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000556142.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000554969.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000553300.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000420743.2_Missense_Mutation_p.L84R|HNRNPC_ENST00000336053.6_Missense_Mutation_p.L84R|HNRNPC_ENST00000555309.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000555914.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000449098.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000556897.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000555883.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000553753.1_Missense_Mutation_p.L84R|HNRNPC_ENST00000430246.2_Missense_Mutation_p.L84R|HNRNPC_ENST00000554455.1_Missense_Mutation_p.L84R	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	84	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTCTGCAGCCAGGTTAATATC	0.388																																					p.L84R	NSCLC(108;607 2244 12726 38757)	Atlas-SNP	.											.	HNRNPC	31	.	0			c.T251G						.						73.0	75.0	74.0					14																	21699222		2199	4293	6492	SO:0001583	missense	3183	exon3			GCAGCCAGGTTAA		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.251T>G	chr14.hg19:g.21699222A>C	ENSP00000319690:p.Leu84Arg	64.0	0.0		60.0	14.0	NM_001077443	D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	hg19	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272549	0.59649	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000452166;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554383;ENST00000555215;ENST00000555137;ENST00000554891;ENST00000556226;ENST00000555176	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;2.13;0.89;0.89;0.89;0.89;0.89;0.89	5.88	5.88	0.94601	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.275952	0.22837	U	0.055036	T	0.35941	0.0949	L	0.31294	0.92	0.80722	D	1	B;B;B;B;B	0.27316	0.175;0.012;0.152;0.103;0.1	B;B;B;B;B	0.28139	0.052;0.016;0.086;0.036;0.049	T	0.20472	-1.0274	10	0.87932	D	0	.	15.2723	0.73712	1.0:0.0:0.0:0.0	.	84;84;84;84;84	B4DY08;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;HNRPC_HUMAN;.	R	84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;5;84;84;84;84;84;84;84	ENSP00000338095:L84R;ENSP00000319690:L84R;ENSP00000404559:L84R;ENSP00000450725:L84R;ENSP00000451187:L84R;ENSP00000451291:L84R;ENSP00000442816:L84R;ENSP00000450548:L84R;ENSP00000451708:L84R;ENSP00000450790:L84R;ENSP00000450629:L84R;ENSP00000452214:L84R;ENSP00000452276:L84R;ENSP00000450544:L84R;ENSP00000451176:L84R;ENSP00000404848:L84R;ENSP00000450601:L5R;ENSP00000452021:L84R;ENSP00000452213:L84R;ENSP00000452185:L84R;ENSP00000450467:L84R;ENSP00000451292:L84R;ENSP00000452573:L84R	ENSP00000319690:L84R	L	-	2	0	HNRNPC	20769062	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.865000	0.87049	2.250000	0.74265	0.482000	0.46254	CTG	.	.		0.388	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1		
TGM1	7051	hgsc.bcm.edu	37	14	24729674	24729674	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:24729674A>G	ENST00000206765.6	-	4	862	c.739T>C	c.(739-741)Ttc>Ctc	p.F247L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	247					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CAGGGGTTGAAGAGGATGTAG	0.592																																					p.F247L		Atlas-SNP	.											.	TGM1	73	.	0			c.T739C						.						82.0	73.0	76.0					14																	24729674		2203	4300	6503	SO:0001583	missense	7051	exon4			GGTTGAAGAGGAT	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.739T>C	chr14.hg19:g.24729674A>G	ENSP00000206765:p.Phe247Leu	90.0	0.0		57.0	21.0	NM_000359	B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	hg19	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	A	34	5.397022	0.96009	.	.	ENSG00000092295	ENST00000206765	D	0.94613	-3.47	5.49	5.49	0.81192	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	H	0.95328	3.655	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.99153	1.0859	10	0.87932	D	0	-30.3127	14.7155	0.69265	1.0:0.0:0.0:0.0	.	247	P22735	TGM1_HUMAN	L	247	ENSP00000206765:F247L	ENSP00000206765:F247L	F	-	1	0	TGM1	23799514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.599000	0.90856	2.311000	0.77944	0.533000	0.62120	TTC	.	.		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	
KLHL28	54813	hgsc.bcm.edu	37	14	45414969	45414969	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:45414969T>C	ENST00000396128.4	-	2	282	c.163A>G	c.(163-165)Agc>Ggc	p.S55G	KLHL28_ENST00000355081.2_Missense_Mutation_p.S69G	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	55	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGGCTGACGCTGGCAAGTACC	0.438																																					p.S55G		Atlas-SNP	.											.	KLHL28	53	.	0			c.A163G						.						95.0	89.0	91.0					14																	45414969		2203	4300	6503	SO:0001583	missense	54813	exon2			TGACGCTGGCAAG	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.163A>G	chr14.hg19:g.45414969T>C	ENSP00000379434:p.Ser55Gly	115.0	0.0		85.0	5.0	NM_017658	Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	hg19	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054061	0.55218	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500;ENST00000556239	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.81	5.81	0.92471	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.070640	0.85682	D	0.000000	T	0.73133	0.3548	M	0.78285	2.405	0.48040	D	0.999573	B;B	0.29481	0.178;0.245	B;B	0.37550	0.18;0.253	T	0.74337	-0.3698	10	0.66056	D	0.02	.	15.8323	0.78764	0.0:0.0:0.0:1.0	.	55;55	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	G	55;69;55;55	ENSP00000379434:S55G;ENSP00000347193:S69G;ENSP00000452061:S55G;ENSP00000452591:S55G	ENSP00000347193:S69G	S	-	1	0	KLHL28	44484719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.796000	0.69080	2.225000	0.72522	0.533000	0.62120	AGC	.	.		0.438	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3		
MDGA2	161357	hgsc.bcm.edu	37	14	47342700	47342700	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:47342700A>G	ENST00000399232.2	-	14	2845	c.2481T>C	c.(2479-2481)ccT>ccC	p.P827P	MDGA2_ENST00000426342.1_Silent_p.P598P|MDGA2_ENST00000357362.3_Silent_p.P598P|MDGA2_ENST00000399222.3_Silent_p.P29P|MDGA2_ENST00000439988.3_Silent_p.P896P	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	827	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGGGTCCATAAGGGTTTTTGG	0.378																																					p.P896P		Atlas-SNP	.											MDGA2_ENST00000439988,colon,carcinoma,0,3	MDGA2	470	.	0			c.T2688C						.						163.0	157.0	158.0					14																	47342700		1855	4108	5963	SO:0001819	synonymous_variant	161357	exon14			TCCATAAGGGTTT	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2481T>C	chr14.hg19:g.47342700A>G		76.0	0.0		66.0	3.0	NM_001113498	F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	hg19																																																																																				.	.		0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
KLHDC2	23588	hgsc.bcm.edu	37	14	50249607	50249607	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:50249607T>C	ENST00000298307.5	+	13	2018	c.1157T>C	c.(1156-1158)cTt>cCt	p.L386P	KLHDC2_ENST00000554589.1_3'UTR|KLHDC2_ENST00000557247.1_3'UTR|NEMF_ENST00000556925.1_5'Flank	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	386						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGGAACTGCCTTCCAAAACAC	0.378																																					p.L386P		Atlas-SNP	.											.	KLHDC2	33	.	0			c.T1157C						.						100.0	85.0	90.0					14																	50249607		2203	4300	6503	SO:0001583	missense	23588	exon13			ACTGCCTTCCAAA	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.1157T>C	chr14.hg19:g.50249607T>C	ENSP00000298307:p.Leu386Pro	112.0	0.0		90.0	4.0	NM_014315	B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	hg19	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362451	0.82353	.	.	ENSG00000165516	ENST00000298307	T	0.07021	3.23	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.00812	-1.1556	10	0.87932	D	0	-23.877	15.7905	0.78357	0.0:0.0:0.0:1.0	.	386	Q9Y2U9	KLDC2_HUMAN	P	386	ENSP00000298307:L386P	ENSP00000298307:L386P	L	+	2	0	KLHDC2	49319357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.340000	0.72973	2.324000	0.78689	0.533000	0.62120	CTT	.	.		0.378	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1		
L2HGDH	79944	hgsc.bcm.edu	37	14	50769676	50769676	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:50769676A>G	ENST00000267436.4	-	2	597	c.200T>C	c.(199-201)cTc>cCc	p.L67P	L2HGDH_ENST00000261699.4_Missense_Mutation_p.L67P|L2HGDH_ENST00000421284.3_Missense_Mutation_p.L67P|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L67P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L67P|L2HGDH_ENST00000556393.1_5'UTR			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	67					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TCGCAGGATGAGTGCTCTGGC	0.398																																					p.L67P		Atlas-SNP	.											.	L2HGDH	33	.	0			c.T200C						.						132.0	132.0	132.0					14																	50769676		2203	4300	6503	SO:0001583	missense	79944	exon2			AGGATGAGTGCTC		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.200T>C	chr14.hg19:g.50769676A>G	ENSP00000267436:p.Leu67Pro	45.0	0.0		52.0	4.0	NM_024884	Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	hg19	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636752	0.87760	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000557131;ENST00000555423;ENST00000555610	D;D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55;-3.55	5.35	5.35	0.76521	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99755	1.1019	10	0.87932	D	0	-10.2049	16.0475	0.80731	1.0:0.0:0.0:0.0	.	67;67	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	67	ENSP00000261699:L67P;ENSP00000267436:L67P;ENSP00000405559:L67P;ENSP00000450494:L67P;ENSP00000452483:L67P	ENSP00000261699:L67P	L	-	2	0	L2HGDH	49839426	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.784000	0.91818	2.333000	0.79357	0.533000	0.62120	CTC	.	.		0.398	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884	
DAAM1	23002	hgsc.bcm.edu	37	14	59793328	59793328	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:59793328A>G	ENST00000395125.1	+	10	1298	c.1275A>G	c.(1273-1275)acA>acG	p.T425T	DAAM1_ENST00000351081.1_Silent_p.T425T|DAAM1_ENST00000360909.3_Silent_p.T425T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	425					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGACTCCACACCTTTGGAAA	0.368																																					p.T425T		Atlas-SNP	.											.	DAAM1	95	.	0			c.A1275G						.						83.0	84.0	84.0					14																	59793328		2203	4300	6503	SO:0001819	synonymous_variant	23002	exon11			CTCCACACCTTTG	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1275A>G	chr14.hg19:g.59793328A>G		210.0	0.0		145.0	6.0	NM_001270520	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	hg19	CCDS9737.1																																																																																			.	.		0.368	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
SYNE2	23224	hgsc.bcm.edu	37	14	64496677	64496677	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:64496677A>G	ENST00000344113.4	+	44	6991	c.6779A>G	c.(6778-6780)gAc>gGc	p.D2260G	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D2260G|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2260G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2260					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCGTCACAGACCTGAATACT	0.383																																					p.D2260G		Atlas-SNP	.											.	SYNE2	577	.	0			c.A6779G						.						88.0	85.0	86.0					14																	64496677		1828	4088	5916	SO:0001583	missense	23224	exon44			TCACAGACCTGAA	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6779A>G	chr14.hg19:g.64496677A>G	ENSP00000341781:p.Asp2260Gly	119.0	0.0		80.0	4.0	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	9.367	1.069510	0.20147	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.37752	1.18;1.18;1.18	5.24	5.24	0.73138	.	0.317042	0.26955	N	0.021648	T	0.31827	0.0809	L	0.29908	0.895	0.80722	D	1	P;P	0.49961	0.884;0.93	B;P	0.46758	0.326;0.526	T	0.09015	-1.0694	10	0.62326	D	0.03	.	9.6554	0.39923	0.8251:0.1749:0.0:0.0	.	2260;2260	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	G	2260	ENSP00000350719:D2260G;ENSP00000341781:D2260G;ENSP00000452570:D2260G	ENSP00000261678:D2260G	D	+	2	0	SYNE2	63566430	0.966000	0.33281	0.266000	0.24541	0.131000	0.20780	0.694000	0.25512	2.108000	0.64289	0.533000	0.62120	GAC	.	.		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
MTHFD1	4522	hgsc.bcm.edu	37	14	64898578	64898578	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:64898578A>G	ENST00000545908.1	+	15	1890	c.1661A>G	c.(1660-1662)aAg>aGg	p.K554R	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Splice_Site_p.K498R			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	498	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CGAAGGTTAAAGGTAAGCTTT	0.348																																					p.K498R	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	Atlas-SNP	.											.	MTHFD1	61	.	0			c.A1493G						.						83.0	78.0	80.0					14																	64898578		2203	4300	6503	SO:0001630	splice_region_variant	4522	exon15			GGTTAAAGGTAAG	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1662+1A>G	chr14.hg19:g.64898578A>G		87.0	0.0		87.0	4.0	NM_005956	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.45	2.240767	0.39598	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.24151	2.69;2.7;2.7;1.87	5.73	-5.62	0.02481	.	0.575440	0.19437	N	0.114293	T	0.12603	0.0306	N	0.11651	0.15	0.23685	N	0.997114	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.10450	0.005;0.005;0.002	T	0.05084	-1.0907	10	0.35671	T	0.21	0.0482	17.0195	0.86429	0.7364:0.0:0.2636:0.0	.	554;498;498	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	R	554;498;554;478	ENSP00000438588:K554R;ENSP00000450560:K498R;ENSP00000216605:K554R;ENSP00000451309:K478R	ENSP00000216605:K498R	K	+	2	0	MTHFD1	63968331	0.010000	0.17322	0.539000	0.28077	0.961000	0.63080	0.049000	0.14099	-1.240000	0.02529	-0.375000	0.07067	AAG	.	.		0.348	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		Missense_Mutation
ENTPD5	957	hgsc.bcm.edu	37	14	74443063	74443063	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:74443063T>C	ENST00000334696.6	-	9	925	c.606A>G	c.(604-606)ggA>ggG	p.G202G	ENTPD5_ENST00000557325.1_Silent_p.G202G	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	202					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGGTGGAGGCTCCCCCTAGGT	0.537																																					p.G202G		Atlas-SNP	.											.	ENTPD5	26	.	0			c.A606G						.						110.0	92.0	98.0					14																	74443063		2203	4300	6503	SO:0001819	synonymous_variant	957	exon9			GGAGGCTCCCCCT	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.606A>G	chr14.hg19:g.74443063T>C		122.0	0.0		103.0	5.0	NM_001249	A1L4C5|Q96RX0	Silent	SNP	ENST00000334696.6	hg19	CCDS9825.1																																																																																			.	.		0.537	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249	
YLPM1	56252	hgsc.bcm.edu	37	14	75265057	75265057	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:75265057T>C	ENST00000325680.7	+	5	3181	c.3057T>C	c.(3055-3057)tcT>tcC	p.S1019S	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.S824S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	824	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)		ACAGCTCATCTTACAGAGGTC	0.483																																					p.S1019S		Atlas-SNP	.											.	YLPM1	298	.	0			c.T3057C						.						60.0	60.0	60.0					14																	75265057		1935	4132	6067	SO:0001819	synonymous_variant	56252	exon5			CTCATCTTACAGA	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.3057T>C	chr14.hg19:g.75265057T>C		83.0	0.0		75.0	4.0	NM_019589	P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	hg19	CCDS45135.1																																																																																			.	.		0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589	
GTF2A1	2957	hgsc.bcm.edu	37	14	81670411	81670411	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:81670411T>C	ENST00000553612.1	-	3	573	c.170A>G	c.(169-171)gAt>gGt	p.D57G	SNORA79_ENST00000408376.1_RNA|GTF2A1_ENST00000434192.2_Missense_Mutation_p.D18G	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	57					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ATGAAATCCATCTACTGCCCT	0.428																																					p.D57G		Atlas-SNP	.											.	GTF2A1	34	.	0			c.A170G						.						147.0	97.0	114.0					14																	81670411		2203	4300	6503	SO:0001583	missense	2957	exon3			AATCCATCTACTG	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.170A>G	chr14.hg19:g.81670411T>C	ENSP00000452454:p.Asp57Gly	178.0	0.0		114.0	5.0	NM_015859	Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	hg19	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643700	0.87859	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.44482	0.92;0.92	5.55	5.55	0.83447	Transcription factor IIA, alpha subunit, N-terminal (1);	0.097919	0.64402	D	0.000002	T	0.51787	0.1695	M	0.64997	1.995	0.80722	D	1	D;P	0.54207	0.965;0.924	P;P	0.50270	0.636;0.554	T	0.53648	-0.8409	10	0.48119	T	0.1	-16.9599	15.6979	0.77515	0.0:0.0:0.0:1.0	.	18;57	P52655-2;P52655	.;TF2AA_HUMAN	G	57;18;18	ENSP00000452454:D57G;ENSP00000409492:D18G	ENSP00000298173:D57G	D	-	2	0	GTF2A1	80740164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.260000	0.78391	2.108000	0.64289	0.460000	0.39030	GAT	.	.		0.428	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859	
SERPINA4	5267	hgsc.bcm.edu	37	14	95033451	95033451	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:95033451T>C	ENST00000557004.1	+	3	1215	c.794T>C	c.(793-795)gTg>gCg	p.V265A	SERPINA4_ENST00000555095.1_Missense_Mutation_p.V265A|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V265A|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	265					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCCTGCTCGGTGCTACGGATG	0.488																																					p.V265A		Atlas-SNP	.											.	SERPINA4	81	.	0			c.T794C						.						117.0	101.0	107.0					14																	95033451		2203	4300	6503	SO:0001583	missense	5267	exon3			GCTCGGTGCTACG	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.794T>C	chr14.hg19:g.95033451T>C	ENSP00000450838:p.Val265Ala	147.0	0.0		118.0	5.0	NM_006215	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	hg19	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350113	0.61183	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85861	-2.04;-2.04;-2.04	4.56	4.56	0.56223	Serpin domain (3);	0.000000	0.48767	D	0.000172	D	0.90923	0.7147	M	0.71920	2.185	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73380	0.951;0.98	D	0.91972	0.5587	10	0.87932	D	0	.	13.4119	0.60948	0.0:0.0:0.0:1.0	.	265;265	B2R815;P29622	.;KAIN_HUMAN	A	265	ENSP00000450838:V265A;ENSP00000451172:V265A;ENSP00000298841:V265A	ENSP00000298841:V265A	V	+	2	0	SERPINA4	94103204	0.970000	0.33590	0.327000	0.25402	0.155000	0.21991	4.254000	0.58798	1.814000	0.52955	0.459000	0.35465	GTG	.	.		0.488	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
SERPINA4	5267	hgsc.bcm.edu	37	14	95034486	95034486	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:95034486A>G	ENST00000557004.1	+	4	1365	c.944A>G	c.(943-945)gAg>gGg	p.E315G	SERPINA4_ENST00000555095.1_Missense_Mutation_p.E315G|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E315G|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	315					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AAGAAGCTAGAGTTGCATCTT	0.478																																					p.E315G		Atlas-SNP	.											.	SERPINA4	81	.	0			c.A944G						.						133.0	133.0	133.0					14																	95034486		2203	4300	6503	SO:0001583	missense	5267	exon4			AGCTAGAGTTGCA	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.944A>G	chr14.hg19:g.95034486A>G	ENSP00000450838:p.Glu315Gly	103.0	0.0		68.0	4.0	NM_006215	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	hg19	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472865	0.26423	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85411	-1.98;-1.98;-1.98	4.92	-2.1	0.07210	Serpin domain (3);	0.723224	0.11723	N	0.535656	T	0.80507	0.4636	M	0.69823	2.125	0.09310	N	1	B;B	0.24963	0.02;0.115	B;B	0.32149	0.033;0.141	T	0.70741	-0.4789	10	0.66056	D	0.02	.	1.2779	0.02034	0.4214:0.2839:0.1578:0.1369	.	315;315	B2R815;P29622	.;KAIN_HUMAN	G	315	ENSP00000450838:E315G;ENSP00000451172:E315G;ENSP00000298841:E315G	ENSP00000298841:E315G	E	+	2	0	SERPINA4	94104239	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	1.746000	0.38288	-0.565000	0.06061	0.533000	0.62120	GAG	.	.		0.478	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
RTL1	388015	hgsc.bcm.edu	37	14	101350675	101350676	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:101350675_101350676GA>CT	ENST00000534062.1	-	1	508_509	c.450_451TC>AG	c.(448-453)ccTCaa>ccAGaa	p.Q151E	MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	151					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TTTTGCTCTTGAGGAGTCTCCT	0.515																																					p.Q151E|p.P150P		Atlas-SNP	.											.	RTL1	120	.	0			c.C451G|c.T450A						.																																			SO:0001583	missense	388015	exon1			GCTCTTGAGGAGT|CTCTTGAGGAGTC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.450_451delinsCT	chr14.hg19:g.101350675_101350676delinsCT	ENSP00000435342:p.Gln151Glu	188.0|186.0	0.0		134.0	6.0	NM_001134888	E9PKS8	Missense_Mutation|Silent	SNP	ENST00000534062.1	hg19	CCDS53910.1																																																																																			.	.		0.515	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
RTL1	388015	hgsc.bcm.edu	37	14	101351059	101351059	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:101351059T>C	ENST00000534062.1	-	1	125	c.67A>G	c.(67-69)Atg>Gtg	p.M23V	MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	23					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GAGGACTCCATTTGTTTTGAT	0.532																																					p.M23V		Atlas-SNP	.											.	RTL1	120	.	0			c.A67G						.						36.0	34.0	35.0					14																	101351059		1568	3582	5150	SO:0001583	missense	388015	exon1			ACTCCATTTGTTT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.67A>G	chr14.hg19:g.101351059T>C	ENSP00000435342:p.Met23Val	87.0	0.0		72.0	4.0	NM_001134888	E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	hg19	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757753	0.49468	.	.	ENSG00000254656	ENST00000534062	T	0.24350	1.86	3.48	3.48	0.39840	.	.	.	.	.	T	0.29458	0.0734	N	0.24115	0.695	0.21325	N	0.999728	P	0.52842	0.956	P	0.62184	0.899	T	0.07947	-1.0746	9	0.25751	T	0.34	.	8.659	0.34081	0.0:0.0:0.0:1.0	.	23	E9PKS8	.	V	23	ENSP00000435342:M23V	ENSP00000435342:M23V	M	-	1	0	RTL1	100420812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.050000	0.41297	1.819000	0.53055	0.459000	0.35465	ATG	.	.		0.532	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
DYNC1H1	1778	hgsc.bcm.edu	37	14	102515840	102515840	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:102515840T>C	ENST00000360184.4	+	75	13600	c.13436T>C	c.(13435-13437)gTg>gCg	p.V4479A	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCCAGTGGGTGTCCGACTTC	0.607																																					p.V4479A		Atlas-SNP	.											.	DYNC1H1	395	.	0			c.T13436C						.						68.0	60.0	63.0					14																	102515840		2203	4300	6503	SO:0001583	missense	1778	exon75			AGTGGGTGTCCGA	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13436T>C	chr14.hg19:g.102515840T>C	ENSP00000348965:p.Val4479Ala	138.0	0.0		116.0	5.0	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683070	0.88542	.	.	ENSG00000197102	ENST00000360184	T	0.09911	2.93	5.54	5.54	0.83059	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.42686	1.345	0.80722	D	1	P	0.45634	0.863	P	0.46718	0.525	T	0.00463	-1.1724	10	0.66056	D	0.02	.	15.6827	0.77385	0.0:0.0:0.0:1.0	.	4479	Q14204	DYHC1_HUMAN	A	4479	ENSP00000348965:V4479A	ENSP00000348965:V4479A	V	+	2	0	DYNC1H1	101585593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.986000	0.88173	2.093000	0.63338	0.533000	0.62120	GTG	.	.		0.607	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
AHNAK2	113146	hgsc.bcm.edu	37	14	105407781	105407781	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr14:105407781T>C	ENST00000333244.5	-	7	14126	c.14007A>G	c.(14005-14007)gaA>gaG	p.E4669E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4669						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAACAACAGATTCCACAATGG	0.418																																					p.E4669E		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A14007G						.						46.0	48.0	47.0					14																	105407781		1910	4116	6026	SO:0001819	synonymous_variant	113146	exon7			AACAGATTCCACA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14007A>G	chr14.hg19:g.105407781T>C		124.0	0.0		74.0	4.0	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	hg19	CCDS45177.1																																																																																			.	.		0.418	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
EXD1	161829	hgsc.bcm.edu	37	15	41483691	41483691	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:41483691T>C	ENST00000314992.5	-	8	829	c.639A>G	c.(637-639)caA>caG	p.Q213Q	RN7SL497P_ENST00000476341.2_RNA|EXD1_ENST00000458580.2_Silent_p.Q271Q	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	213							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TAGGGGCTACTTGAAGGTGTT	0.383																																					p.Q213Q		Atlas-SNP	.											.	EXD1	52	.	0			c.A639G						.						95.0	98.0	97.0					15																	41483691		2203	4300	6503	SO:0001819	synonymous_variant	161829	exon8			GGCTACTTGAAGG	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.639A>G	chr15.hg19:g.41483691T>C		57.0	0.0		83.0	4.0	NM_152596	A8K909|B7Z839|Q6ZW94	Silent	SNP	ENST00000314992.5	hg19	CCDS10072.1																																																																																			.	.		0.383	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	
ZNF106	64397	hgsc.bcm.edu	37	15	42742306	42742306	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:42742306A>C	ENST00000263805.4	-	2	2421	c.2095T>G	c.(2095-2097)Ttg>Gtg	p.L699V	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	699					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTGCATCCAAGCTAGCACTC	0.448																																					p.L699V		Atlas-SNP	.											.	ZFP106	117	.	0			c.T2095G						.						116.0	117.0	117.0					15																	42742306		2203	4299	6502	SO:0001583	missense	64397	exon2			CATCCAAGCTAGC	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2095T>G	chr15.hg19:g.42742306A>C	ENSP00000263805:p.Leu699Val	104.0	0.0		106.0	26.0	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	hg19	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201313	0.58234	.	.	ENSG00000103994	ENST00000263805	T	0.66280	-0.2	5.52	2.61	0.31194	.	0.534263	0.18523	N	0.138708	T	0.52175	0.1718	L	0.50333	1.59	0.80722	D	1	B;B	0.20550	0.046;0.012	B;B	0.19946	0.027;0.006	T	0.42783	-0.9431	10	0.45353	T	0.12	-2.2957	7.1598	0.25657	0.7653:0.1355:0.0992:0.0	.	482;699	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	V	699	ENSP00000263805:L699V	ENSP00000263805:L699V	L	-	1	2	ZFP106	40529598	0.996000	0.38824	0.402000	0.26371	0.972000	0.66771	3.602000	0.54066	0.268000	0.21939	0.528000	0.53228	TTG	.	.		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
GATM	2628	hgsc.bcm.edu	37	15	45658283	45658283	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:45658283A>G	ENST00000396659.3	-	6	1278	c.939T>C	c.(937-939)ccT>ccC	p.P313P	GATM_ENST00000558336.1_Silent_p.P313P	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	313					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GCACAATACCAGGTCCAATGA	0.438																																					p.P313P		Atlas-SNP	.											.	GATM	34	.	0			c.T939C						.						178.0	158.0	165.0					15																	45658283		2198	4298	6496	SO:0001819	synonymous_variant	2628	exon6			AATACCAGGTCCA	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.939T>C	chr15.hg19:g.45658283A>G		117.0	0.0		84.0	4.0	NM_001482	B4DH99|B4DPI3|Q53EQ4	Silent	SNP	ENST00000396659.3	hg19	CCDS10122.1																																																																																			.	.		0.438	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482	
SEMA6D	80031	hgsc.bcm.edu	37	15	48056059	48056059	+	Missense_Mutation	SNP	C	C	T	rs543020539		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:48056059C>T	ENST00000316364.5	+	10	1199	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	SEMA6D_ENST00000558816.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R254C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R254C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R254C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R254C|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R254C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTGTATTCCCGCGTGGCCCG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19135	0.0		0.0	False		,,,				2504	0.0				p.R254C		Atlas-SNP	.											.	SEMA6D	322	.	0			c.C760T						.						132.0	131.0	131.0					15																	48056059		2198	4297	6495	SO:0001583	missense	80031	exon10			TATTCCCGCGTGG	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.760C>T	chr15.hg19:g.48056059C>T	ENSP00000324857:p.Arg254Cys	125.0	0.0		116.0	37.0	NM_153617	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	hg19	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559209	0.86335	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.81219	-0.1032	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	254;254;254;254;254	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	C	254	ENSP00000442040:R254C;ENSP00000446152:R254C;ENSP00000324857:R254C;ENSP00000374084:R254C;ENSP00000374083:R254C;ENSP00000346786:R254C;ENSP00000350770:R254C;ENSP00000374079:R254C;ENSP00000348276:R254C;ENSP00000374076:R254C	ENSP00000324857:R254C	R	+	1	0	SEMA6D	45843351	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.809000	0.55606	2.785000	0.95823	0.655000	0.94253	CGC	.	.		0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
CEP152	22995	hgsc.bcm.edu	37	15	49083508	49083508	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:49083508T>C	ENST00000380950.2	-	8	1085	c.898A>G	c.(898-900)Aga>Gga	p.R300G	CEP152_ENST00000399334.3_Missense_Mutation_p.R300G|CEP152_ENST00000325747.5_Missense_Mutation_p.R207G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	300					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGTATCTCTCTTTCTTTTCCA	0.333																																					p.R300G		Atlas-SNP	.											.	CEP152	145	.	0			c.A898G						.						133.0	119.0	124.0					15																	49083508		1822	4078	5900	SO:0001583	missense	22995	exon8			TCTCTCTTTCTTT	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.898A>G	chr15.hg19:g.49083508T>C	ENSP00000370337:p.Arg300Gly	101.0	0.0		72.0	4.0	NM_014985	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	hg19	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992539	0.74703	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80214	-1.35;-1.35;-1.35	5.56	5.56	0.83823	.	0.090108	0.85682	D	0.000000	D	0.87111	0.6096	M	0.72894	2.215	0.37710	D	0.924546	P;D;D	0.76494	0.952;0.997;0.999	P;P;D	0.63283	0.461;0.866;0.913	D	0.89686	0.3894	10	0.59425	D	0.04	-21.5976	12.4834	0.55856	0.0:0.0:0.1489:0.8511	.	207;300;300	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	G	300;207;300;300	ENSP00000370337:R300G;ENSP00000321000:R207G;ENSP00000382271:R300G	ENSP00000321000:R207G	R	-	1	2	CEP152	46870800	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.816000	0.55658	2.112000	0.64535	0.533000	0.62120	AGA	.	.		0.333	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
MYO5C	55930	hgsc.bcm.edu	37	15	52548896	52548896	+	Silent	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:52548896G>A	ENST00000261839.7	-	11	1496	c.1335C>T	c.(1333-1335)aaC>aaT	p.N445N	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	445	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GTTCAAAGCTGTTCACATCAA	0.328											OREG0023130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N445N		Atlas-SNP	.											.	MYO5C	162	.	0			c.C1335T						.						130.0	126.0	128.0					15																	52548896		1846	4093	5939	SO:0001819	synonymous_variant	55930	exon11			AAAGCTGTTCACA	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1335C>T	chr15.hg19:g.52548896G>A		93.0	0.0	985	80.0	4.0	NM_018728	Q6P1W8	Silent	SNP	ENST00000261839.7	hg19	CCDS42036.1																																																																																			.	.		0.328	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
FAM214A	56204	hgsc.bcm.edu	37	15	52874394	52874394	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:52874394T>C	ENST00000261844.7	-	13	3340	c.3188A>G	c.(3187-3189)tAc>tGc	p.Y1063C	RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.Y1070C|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1063																	TGATTCAGTGTAAGATTTGAG	0.388																																					p.Y1063C		Atlas-SNP	.											.	.	.	.	0			c.A3188G						.						105.0	100.0	101.0					15																	52874394		1882	4098	5980	SO:0001583	missense	56204	exon13			TCAGTGTAAGATT	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3188A>G	chr15.hg19:g.52874394T>C	ENSP00000261844:p.Tyr1063Cys	105.0	0.0		99.0	4.0	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	hg19	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.017203	0.54576	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.33216	1.42;1.42	5.83	5.83	0.93111	.	0.234874	0.44483	D	0.000446	T	0.43322	0.1242	L	0.29908	0.895	0.44366	D	0.997266	D;D	0.67145	0.995;0.996	P;D	0.64506	0.879;0.926	T	0.37526	-0.9702	10	0.66056	D	0.02	.	16.2028	0.82102	0.0:0.0:0.0:1.0	.	1070;1063	F5H8G0;Q32MH5	.;K1370_HUMAN	C	1063;1063;1070	ENSP00000261844:Y1063C;ENSP00000443598:Y1070C	ENSP00000261844:Y1063C	Y	-	2	0	KIAA1370	50661686	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.875000	0.63072	2.230000	0.72887	0.467000	0.42956	TAC	.	.		0.388	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
GLCE	26035	hgsc.bcm.edu	37	15	69553621	69553621	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:69553621T>C	ENST00000261858.2	+	4	1010	c.782T>C	c.(781-783)gTg>gCg	p.V261A	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.V197A	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	261					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ATGGCGAATGTGGCTGATAAG	0.403																																					p.V261A		Atlas-SNP	.											.	GLCE	48	.	0			c.T782C						.						158.0	154.0	155.0					15																	69553621		2200	4298	6498	SO:0001583	missense	26035	exon4			CGAATGTGGCTGA	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.782T>C	chr15.hg19:g.69553621T>C	ENSP00000261858:p.Val261Ala	125.0	0.0		90.0	4.0	NM_015554	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	hg19	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802042	0.50315	.	.	ENSG00000138604	ENST00000261858	T	0.32515	1.45	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	L	0.50333	1.59	0.80722	D	1	P	0.36027	0.533	B	0.36959	0.237	T	0.06023	-1.0850	10	0.40728	T	0.16	-22.1109	14.8343	0.70172	0.0:0.0:0.0:1.0	.	261	O94923	GLCE_HUMAN	A	261	ENSP00000261858:V261A	ENSP00000261858:V261A	V	+	2	0	GLCE	67340675	1.000000	0.71417	0.997000	0.53966	0.767000	0.43475	6.141000	0.71744	2.174000	0.68829	0.482000	0.46254	GTG	.	.		0.403	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554	
HCN4	10021	hgsc.bcm.edu	37	15	73615722	73615722	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:73615722T>C	ENST00000261917.3	-	8	3705	c.2712A>G	c.(2710-2712)atA>atG	p.I904M		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	904					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CAAACCCGGCTATGGTGGTGG	0.716																																					p.I904M		Atlas-SNP	.											.	HCN4	150	.	0			c.A2712G						.						8.0	11.0	10.0					15																	73615722		2087	4074	6161	SO:0001583	missense	10021	exon8			CCCGGCTATGGTG	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2712A>G	chr15.hg19:g.73615722T>C	ENSP00000261917:p.Ile904Met	118.0	0.0		94.0	4.0	NM_005477	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	hg19	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	T	6.051	0.377834	0.11466	.	.	ENSG00000138622	ENST00000261917	D	0.97303	-4.33	2.39	-2.69	0.06022	.	.	.	.	.	D	0.89553	0.6748	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.80908	-0.1172	9	0.35671	T	0.21	.	6.8321	0.23915	0.1433:0.0:0.6333:0.2234	.	904	Q9Y3Q4	HCN4_HUMAN	M	904	ENSP00000261917:I904M	ENSP00000261917:I904M	I	-	3	3	HCN4	71402775	.	.	0.018000	0.16275	0.694000	0.40290	.	.	-0.229000	0.09854	0.368000	0.22195	ATA	.	.		0.716	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
SEMA7A	8482	hgsc.bcm.edu	37	15	74709008	74709008	+	Missense_Mutation	SNP	C	C	T	rs140707085		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:74709008C>T	ENST00000261918.4	-	7	1257	c.709G>A	c.(709-711)Gat>Aat	p.D237N	SEMA7A_ENST00000542748.1_Missense_Mutation_p.D72N|SEMA7A_ENST00000543145.2_Missense_Mutation_p.D223N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	237	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						ATCTTGTCATCGTAAGCCTGG	0.567																																					p.D237N		Atlas-SNP	.											.	SEMA7A	58	.	0			c.G709A						.	C	ASN/ASP,ASN/ASP,ASN/ASP	0,4394		0,0,2197	335.0	290.0	306.0		667,214,709	1.2	0.9	15	dbSNP_134	306	3,8589	3.0+/-9.4	0,3,4293	yes	missense,missense,missense	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	23,23,23	0,3,6490	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign	223/653,72/502,237/667	74709008	3,12983	2197	4296	6493	SO:0001583	missense	8482	exon7			TGTCATCGTAAGC	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.709G>A	chr15.hg19:g.74709008C>T	ENSP00000261918:p.Asp237Asn	315.0	0.0		248.0	19.0	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	hg19	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396710	0.25205	0.0	3.49E-4	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.15718	2.4;2.4;2.4	5.39	1.22	0.21188	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.284277	0.37906	N	0.001891	T	0.11367	0.0277	L	0.37750	1.13	0.32117	N	0.588474	B;B	0.16802	0.009;0.019	B;B	0.12837	0.005;0.008	T	0.06127	-1.0844	10	0.87932	D	0	-10.0158	4.6518	0.12598	0.0:0.4045:0.1593:0.4362	.	223;237	F5H1S0;O75326	.;SEM7A_HUMAN	N	237;223;72	ENSP00000261918:D237N;ENSP00000438966:D223N;ENSP00000441493:D72N	ENSP00000261918:D237N	D	-	1	0	SEMA7A	72496061	0.153000	0.22777	0.907000	0.35723	0.991000	0.79684	0.533000	0.23082	0.573000	0.29400	0.655000	0.94253	GAT	.	C|1.000;T|0.000		0.567	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
CYP1A1	1543	hgsc.bcm.edu	37	15	75015354	75015354	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:75015354A>G	ENST00000379727.3	-	2	283	c.85T>C	c.(85-87)Tca>Cca	p.S29P	CYP1A1_ENST00000395049.4_Missense_Mutation_p.S29P|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S29P|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S29P|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	29					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	TGAGGTCTTGAGGCCCTGATT	0.562									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.S29P		Atlas-SNP	.											.	CYP1A1	60	.	0			c.T85C						.																																			SO:0001583	missense	1543	exon2	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	GTCTTGAGGCCCT	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.85T>C	chr15.hg19:g.75015354A>G	ENSP00000369050:p.Ser29Pro	123.0	0.0		91.0	4.0	NM_000499	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	hg19	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	A	3.531	-0.095786	0.07010	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.72051	-0.62;-0.62;-0.48	5.31	0.186	0.15105	.	0.934912	0.09279	N	0.824002	T	0.49389	0.1554	N	0.19112	0.55	0.09310	N	1	P;P	0.44478	0.836;0.529	B;B	0.39738	0.308;0.139	T	0.37865	-0.9687	10	0.36615	T	0.2	.	3.232	0.06751	0.42:0.0:0.2825:0.2975	.	29;29	E7EMT5;P04798	.;CP1A1_HUMAN	P	29	ENSP00000369050:S29P;ENSP00000378488:S29P;ENSP00000378489:S29P	ENSP00000268062:S29P	S	-	1	0	CYP1A1	72802407	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.564000	0.23563	-0.007000	0.14345	0.533000	0.62120	TCA	.	.		0.562	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499	
FAM219B	57184	hgsc.bcm.edu	37	15	75197055	75197055	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:75197055T>C	ENST00000357635.5	-	4	701		c.e4-2		FAM219B_ENST00000563119.1_Splice_Site|FAM219B_ENST00000565772.1_Splice_Site|FAM219B_ENST00000563706.1_Splice_Site	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B																		TCCCCATCACTAGGAGAAGAG	0.537																																					.		Atlas-SNP	.											.	.	.	.	0			c.381-2A>G						.						131.0	125.0	127.0					15																	75197055		2197	4295	6492	SO:0001630	splice_region_variant	57184	exon5			CATCACTAGGAGA	AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 17"""	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.381-2A>G	chr15.hg19:g.75197055T>C		87.0	0.0		68.0	4.0	NM_020447	A8K4Q5|B4DK57|Q9NXY0	Splice_Site	SNP	ENST00000357635.5	hg19	CCDS32295.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020476	0.75275	.	.	ENSG00000178761	ENST00000357635	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8914	0.70611	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C15orf17	72984108	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.304000	0.72800	2.111000	0.64477	0.449000	0.29647	.	.	.		0.537	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420165.1	NM_020447	Intron
TBC1D2B	23102	hgsc.bcm.edu	37	15	78305187	78305187	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:78305187C>G	ENST00000300584.3	-	9	2247	c.2248G>C	c.(2248-2250)Ggc>Cgc	p.G750R	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.G750R	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	750	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TGACAGTAGCCGATATCTGGA	0.537																																					p.G750R		Atlas-SNP	.											.	TBC1D2B	104	.	0			c.G2248C						.						95.0	80.0	85.0					15																	78305187		2196	4293	6489	SO:0001583	missense	23102	exon9			AGTAGCCGATATC	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2248G>C	chr15.hg19:g.78305187C>G	ENSP00000300584:p.Gly750Arg	234.0	0.0		232.0	16.0	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	hg19	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141177	0.77775	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.10763	2.84;2.84	5.47	5.47	0.80525	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.56523	-0.7965	10	0.87932	D	0	.	18.6826	0.91551	0.0:1.0:0.0:0.0	.	750;202;750	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	R	750	ENSP00000387165:G750R;ENSP00000300584:G750R	ENSP00000300584:G750R	G	-	1	0	TBC1D2B	76092242	1.000000	0.71417	0.984000	0.44739	0.473000	0.32948	7.631000	0.83237	2.723000	0.93209	0.655000	0.94253	GGC	.	.		0.537	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	
BLM	641	hgsc.bcm.edu	37	15	91292851	91292851	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:91292851T>C	ENST00000355112.3	+	3	471	c.353T>C	c.(352-354)gTt>gCt	p.V118A	BLM_ENST00000560509.1_Missense_Mutation_p.V118A	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	118					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCGAAGGAAGTTGTATGCACT	0.408			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																												p.V118A		Atlas-SNP	.	yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	.	BLM	122	.	0			c.T353C						.						70.0	69.0	70.0					15																	91292851		2198	4298	6496	SO:0001583	missense	641	exon3	Familial Cancer Database		AGGAAGTTGTATG	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.353T>C	chr15.hg19:g.91292851T>C	ENSP00000347232:p.Val118Ala	67.0	0.0		83.0	4.0	NM_000057	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	hg19	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	T	8.900	0.956159	0.18507	.	.	ENSG00000197299	ENST00000355112	T	0.47869	0.83	6.02	-2.49	0.06403	.	1.400750	0.04428	N	0.368798	T	0.31702	0.0805	L	0.41824	1.3	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.07986	-1.0744	10	0.15499	T	0.54	-2.1436	2.0399	0.03548	0.1329:0.3815:0.1355:0.3502	.	118;118	B2RAN0;P54132	.;BLM_HUMAN	A	118	ENSP00000347232:V118A	ENSP00000347232:V118A	V	+	2	0	BLM	89093855	0.000000	0.05858	0.000000	0.03702	0.795000	0.44927	-0.739000	0.04866	-0.340000	0.08388	0.533000	0.62120	GTT	.	.		0.408	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		
MCTP2	55784	hgsc.bcm.edu	37	15	94841577	94841577	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr15:94841577T>C	ENST00000357742.4	+	1	83	c.83T>C	c.(82-84)gTg>gCg	p.V28A	MCTP2_ENST00000451018.3_Missense_Mutation_p.V28A|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.V28A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	28					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAAGAAGGTGAAAAAGAAC	0.522																																					p.V28A		Atlas-SNP	.											.	MCTP2	122	.	0			c.T83C						.						89.0	90.0	90.0					15																	94841577		2197	4298	6495	SO:0001583	missense	55784	exon1			AGAAGGTGAAAAA	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.83T>C	chr15.hg19:g.94841577T>C	ENSP00000350377:p.Val28Ala	63.0	0.0		96.0	4.0	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	T	7.644	0.681423	0.14907	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.68765	-0.35;-0.11;0.05	4.98	1.23	0.21249	.	0.874162	0.09714	N	0.765375	T	0.38427	0.1040	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.0;0.002	T	0.38134	-0.9675	10	0.08179	T	0.78	.	0.1219	0.00065	0.2958:0.2096:0.1525:0.3422	.	28;28;28;28;28	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	A	28	ENSP00000438521:V28A;ENSP00000395109:V28A;ENSP00000350377:V28A	ENSP00000350377:V28A	V	+	2	0	MCTP2	92642581	0.000000	0.05858	0.988000	0.46212	0.366000	0.29705	-0.194000	0.09559	-0.034000	0.13713	-0.320000	0.08662	GTG	.	.		0.522	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
TEKT5	146279	hgsc.bcm.edu	37	16	10729745	10729745	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:10729745T>C	ENST00000283025.2	-	6	1188	c.1117A>G	c.(1117-1119)Acc>Gcc	p.T373A	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	373						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AGCATGATGGTGTTCTCGGCC	0.647																																					p.T373A		Atlas-SNP	.											.	TEKT5	66	.	0			c.A1117G						.						134.0	131.0	132.0					16																	10729745		2197	4300	6497	SO:0001583	missense	146279	exon6			TGATGGTGTTCTC		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1117A>G	chr16.hg19:g.10729745T>C	ENSP00000283025:p.Thr373Ala	114.0	0.0		99.0	4.0	NM_144674	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	hg19	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141508	0.37825	.	.	ENSG00000153060	ENST00000283025	T	0.02395	4.31	4.28	4.28	0.50868	.	0.105342	0.41823	D	0.000811	T	0.05318	0.0141	L	0.58810	1.83	0.31807	N	0.62761	B	0.27997	0.197	B	0.37943	0.261	T	0.06197	-1.0840	10	0.14656	T	0.56	-25.6163	12.2505	0.54595	0.0:0.0:0.0:1.0	.	373	Q96M29	TEKT5_HUMAN	A	373	ENSP00000283025:T373A	ENSP00000283025:T373A	T	-	1	0	TEKT5	10637246	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	3.885000	0.56182	1.570000	0.49709	0.454000	0.30748	ACC	.	.		0.647	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
C16orf62	57020	hgsc.bcm.edu	37	16	19619534	19619534	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:19619534C>T	ENST00000251143.5	+	10	831	c.819C>T	c.(817-819)gcC>gcT	p.A273A	C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000542263.1_Silent_p.A362A|C16orf62_ENST00000448695.1_Silent_p.A123A|C16orf62_ENST00000543152.1_Silent_p.A22A|C16orf62_ENST00000438132.3_Silent_p.A362A|C16orf62_ENST00000417362.2_Silent_p.A273A			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	273						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATGACACGGCCAAGGAAACAT	0.388																																					p.A362A		Atlas-SNP	.											.	C16orf62	164	.	0			c.C1086T						.						139.0	134.0	136.0					16																	19619534		2197	4300	6497	SO:0001819	synonymous_variant	57020	exon10			CACGGCCAAGGAA		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.819C>T	chr16.hg19:g.19619534C>T		127.0	0.0		98.0	4.0	NM_020314	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	hg19																																																																																				.	.		0.388	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	
DNAH3	55567	hgsc.bcm.edu	37	16	21011556	21011556	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:21011556C>T	ENST00000261383.3	-	43	6410	c.6411G>A	c.(6409-6411)gtG>gtA	p.V2137V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2137	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACAAACACCACTGCTTTCT	0.527																																					p.V2137V		Atlas-SNP	.											.	DNAH3	1142	.	0			c.G6411A						.						100.0	78.0	86.0					16																	21011556		2201	4300	6501	SO:0001819	synonymous_variant	55567	exon43			AAACACCACTGCT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6411G>A	chr16.hg19:g.21011556C>T		122.0	0.0		92.0	4.0	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	hg19	CCDS10594.1																																																																																			.	.		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
OTOA	146183	hgsc.bcm.edu	37	16	21716543	21716543	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:21716543T>C	ENST00000286149.4	+	11	1077	c.1076T>C	c.(1075-1077)gTg>gCg	p.V359A	OTOA_ENST00000388958.3_Missense_Mutation_p.V345A|OTOA_ENST00000388956.4_Missense_Mutation_p.V266A|OTOA_ENST00000388957.3_Missense_Mutation_p.V21A|OTOA_ENST00000569064.1_3'UTR			Q7RTW8	OTOAN_HUMAN	otoancorin	359					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GATGCCACTGTGGCTCAAGTC	0.577																																					p.V345A		Atlas-SNP	.											.	OTOA	144	.	0			c.T1034C						.						114.0	105.0	108.0					16																	21716543		2199	4300	6499	SO:0001583	missense	146183	exon11			CCACTGTGGCTCA	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1076T>C	chr16.hg19:g.21716543T>C	ENSP00000286149:p.Val359Ala	103.0	0.0		103.0	5.0	NM_144672	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	hg19		.	.	.	.	.	.	.	.	.	.	T	14.15	2.450277	0.43531	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.77098	2.43;-1.07;2.43;-1.07	5.3	4.21	0.49690	.	0.315795	0.29233	N	0.012745	T	0.74527	0.3728	M	0.61703	1.905	0.22366	N	0.999163	P;P;P	0.50943	0.897;0.783;0.94	B;B;B	0.43990	0.335;0.307;0.438	T	0.66901	-0.5806	10	0.48119	T	0.1	-0.9756	9.3397	0.38071	0.0:0.0856:0.0:0.9144	.	266;21;345	B3KWU3;Q7RTW8-2;E9PF51	.;.;.	A	345;359;266;21	ENSP00000373610:V345A;ENSP00000286149:V359A;ENSP00000373608:V266A;ENSP00000373609:V21A	ENSP00000286149:V359A	V	+	2	0	OTOA	21624044	0.955000	0.32602	0.461000	0.27105	0.811000	0.45836	1.673000	0.37534	0.851000	0.35264	0.459000	0.35465	GTG	.	.		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
SCNN1G	6340	hgsc.bcm.edu	37	16	23223435	23223435	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:23223435A>G	ENST00000300061.2	+	8	1400	c.1257A>G	c.(1255-1257)gcA>gcG	p.A419A	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	419					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TACCTCCTGCAGCCAACTACT	0.562																																					p.A419A		Atlas-SNP	.											.	SCNN1G	82	.	0			c.A1257G						.						112.0	87.0	95.0					16																	23223435		2197	4300	6497	SO:0001819	synonymous_variant	6340	exon8			TCCTGCAGCCAAC	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1257A>G	chr16.hg19:g.23223435A>G		77.0	0.0		68.0	4.0	NM_001039	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	ENST00000300061.2	hg19	CCDS10608.1																																																																																			.	.		0.562	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
DCTN5	84516	hgsc.bcm.edu	37	16	23654296	23654296	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:23654296T>C	ENST00000300087.2	+	2	220	c.69T>C	c.(67-69)agT>agC	p.S23S	DCTN5_ENST00000568272.1_Silent_p.S23S|DCTN5_ENST00000568589.1_Silent_p.S23S|DCTN5_ENST00000563998.1_Silent_p.S23S|PALB2_ENST00000261584.4_5'Flank	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	23					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		ACAAAGTCAGTCGCCAGTCAG	0.473																																					p.S23S		Atlas-SNP	.											.	DCTN5	21	.	0			c.T69C						.						120.0	113.0	116.0					16																	23654296		2197	4300	6497	SO:0001819	synonymous_variant	84516	exon2			AGTCAGTCGCCAG		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.69T>C	chr16.hg19:g.23654296T>C		73.0	0.0		64.0	4.0	NM_001199011	A8K9X8|H3BN51|H3BQA4	Silent	SNP	ENST00000300087.2	hg19	CCDS10615.1																																																																																			.	.		0.473	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486	
NLRC5	84166	hgsc.bcm.edu	37	16	57065327	57065327	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:57065327T>C	ENST00000262510.6	+	11	2654	c.2429T>C	c.(2428-2430)cTc>cCc	p.L810P	NLRC5_ENST00000308149.7_Missense_Mutation_p.L810P|NLRC5_ENST00000436936.1_Missense_Mutation_p.L810P|NLRC5_ENST00000539144.1_Missense_Mutation_p.L810P	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	810				ADL -> RTI (in Ref. 1; AAO59377 and 2; ABO40479). {ECO:0000305}.	defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGGCGGACCTCATCTTCCTT	0.557																																					p.L810P		Atlas-SNP	.											NLRC5,rectum,carcinoma,0,1	NLRC5	186	.	0			c.T2429C						.						138.0	114.0	122.0					16																	57065327		2198	4300	6498	SO:0001583	missense	84166	exon10			CGGACCTCATCTT	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2429T>C	chr16.hg19:g.57065327T>C	ENSP00000262510:p.Leu810Pro	231.0	1.0		222.0	12.0	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	hg19	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138040	0.56936	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.75260	-0.71;-0.74;-0.92;-0.74;2.26;0.24	4.18	4.18	0.49190	.	.	.	.	.	T	0.65811	0.2727	L	0.29908	0.895	0.54753	D	0.999983	B;B;B;B	0.31503	0.119;0.174;0.326;0.063	B;B;B;B	0.38458	0.072;0.143;0.274;0.068	T	0.68074	-0.5505	9	0.62326	D	0.03	.	9.9174	0.41444	0.0:0.0:0.0:1.0	.	810;810;810;810	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	P	810;810;810;284;810;317;109	ENSP00000262510:L810P;ENSP00000308886:L810P;ENSP00000389739:L810P;ENSP00000441727:L810P;ENSP00000441597:L317P;ENSP00000440153:L109P	ENSP00000262510:L810P	L	+	2	0	NLRC5	55622828	0.173000	0.23056	0.997000	0.53966	0.787000	0.44495	3.042000	0.49815	2.127000	0.65507	0.459000	0.35465	CTC	.	.		0.557	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
SLC38A7	55238	hgsc.bcm.edu	37	16	58712696	58712696	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:58712696T>C	ENST00000570101.1	-	3	1256	c.373A>G	c.(373-375)Aag>Gag	p.K125E	SLC38A7_ENST00000564100.1_Missense_Mutation_p.K125E|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Missense_Mutation_p.K36E|SLC38A7_ENST00000219320.4_Missense_Mutation_p.K125E			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	125					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CCTGTCAGCTTGCCACACACA	0.542																																					p.K125E		Atlas-SNP	.											.	SLC38A7	26	.	0			c.A373G						.						215.0	128.0	158.0					16																	58712696		2198	4300	6498	SO:0001583	missense	55238	exon4			TCAGCTTGCCACA	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.373A>G	chr16.hg19:g.58712696T>C	ENSP00000454646:p.Lys125Glu	124.0	0.0		84.0	4.0	NM_018231	Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	hg19	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414777	0.42817	.	.	ENSG00000103042	ENST00000219320	T	0.02421	4.3	5.79	4.64	0.57946	.	0.098334	0.64402	D	0.000002	T	0.04497	0.0123	L	0.50333	1.59	0.80722	D	1	P;B	0.35468	0.503;0.241	B;B	0.39617	0.305;0.085	T	0.51317	-0.8721	9	.	.	.	.	11.0297	0.47765	0.0:0.0:0.2809:0.7191	.	125;125	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	E	125	ENSP00000219320:K125E	.	K	-	1	0	SLC38A7	57270197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.741000	0.55090	2.220000	0.72140	0.528000	0.53228	AAG	.	.		0.542	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231	
CDH8	1006	hgsc.bcm.edu	37	16	61687550	61687550	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:61687550C>T	ENST00000577390.1	-	12	3316	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	788					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.E788K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGTAGAGTTCGCCCAGTCTC	0.473																																					p.E788K		Atlas-SNP	.											CDH8,NS,malignant_melanoma,0,3	CDH8	273	.	1	Substitution - Missense(1)	skin(1)	c.G2362A						.						56.0	59.0	58.0					16																	61687550		2202	4300	6502	SO:0001583	missense	1006	exon12			AGAGTTCGCCCAG	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2362G>A	chr16.hg19:g.61687550C>T	ENSP00000462701:p.Glu788Lys	179.0	0.0		138.0	30.0	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	hg19	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032742	0.75504	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	L	0.48877	1.53	0.80722	D	1	D	0.61697	0.99	P	0.59012	0.85	T	0.73401	-0.3994	9	0.66056	D	0.02	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	788	P55286	CADH8_HUMAN	K	788	.	ENSP00000299345:E788K	E	-	1	0	CDH8	60245051	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	GAA	.	.		0.473	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
ZDHHC1	29800	hgsc.bcm.edu	37	16	67434899	67434899	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:67434899A>G	ENST00000348579.2	-	4	730	c.389T>C	c.(388-390)gTc>gCc	p.V130A		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	130					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GTCTTCAATGACATGTGCGTG	0.597																																					p.V130A		Atlas-SNP	.											.	ZDHHC1	28	.	0			c.T389C						.						129.0	112.0	118.0					16																	67434899		2198	4300	6498	SO:0001583	missense	29800	exon4			TCAATGACATGTG	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.389T>C	chr16.hg19:g.67434899A>G	ENSP00000340299:p.Val130Ala	176.0	0.0		148.0	6.0	NM_013304	O15461	Missense_Mutation	SNP	ENST00000348579.2	hg19	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096311	0.76870	.	.	ENSG00000159714	ENST00000348579	T	0.38722	1.12	6.06	6.06	0.98353	.	0.000000	0.30020	U	0.010620	T	0.59959	0.2232	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55573	-0.8120	10	0.33940	T	0.23	.	15.7905	0.78357	1.0:0.0:0.0:0.0	.	130	Q8WTX9	ZDHC1_HUMAN	A	130	ENSP00000340299:V130A	ENSP00000340299:V130A	V	-	2	0	ZDHHC1	65992400	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.864000	0.92294	2.324000	0.78689	0.533000	0.62120	GTC	.	.		0.597	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304	
CIRH1A	84916	hgsc.bcm.edu	37	16	69187545	69187545	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:69187545A>G	ENST00000314423.7	+	9	1238	c.1061A>G	c.(1060-1062)cAc>cGc	p.H354R	CIRH1A_ENST00000563094.1_Missense_Mutation_p.H354R|CIRH1A_ENST00000352319.4_Missense_Mutation_p.H354R			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	354					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TTTGCTCATCACTTAGAACTT	0.408																																					p.H354R	Melanoma(69;1156 1278 4951 8715 52012)	Atlas-SNP	.											.	CIRH1A	48	.	0			c.A1061G						.						95.0	81.0	86.0					16																	69187545		2198	4300	6498	SO:0001583	missense	84916	exon9			CTCATCACTTAGA	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1061A>G	chr16.hg19:g.69187545A>G	ENSP00000327179:p.His354Arg	97.0	0.0		89.0	4.0	NM_032830	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	hg19	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.710637	0.30322	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.27890	1.64;2.37	5.46	4.18	0.49190	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.165338	0.56097	D	0.000038	T	0.16171	0.0389	N	0.21097	0.63	0.45747	D	0.998642	B;B;B	0.20459	0.045;0.001;0.002	B;B;B	0.16289	0.015;0.001;0.004	T	0.10405	-1.0631	10	0.15952	T	0.53	.	5.6183	0.17444	0.8517:0.0:0.1483:0.0	.	354;354;354	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	R	354	ENSP00000327179:H354R;ENSP00000339164:H354R	ENSP00000327179:H354R	H	+	2	0	CIRH1A	67745046	0.997000	0.39634	0.996000	0.52242	0.946000	0.59487	3.176000	0.50863	2.185000	0.69588	0.460000	0.39030	CAC	.	.		0.408	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830	
NFAT5	10725	hgsc.bcm.edu	37	16	69718852	69718852	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:69718852T>C	ENST00000354436.2	+	10	2017	c.1699T>C	c.(1699-1701)Tct>Cct	p.S567P	NFAT5_ENST00000393742.2_Missense_Mutation_p.S491P|NFAT5_ENST00000432919.1_Missense_Mutation_p.S585P|NFAT5_ENST00000566899.1_Missense_Mutation_p.S491P|NFAT5_ENST00000349945.1_Missense_Mutation_p.S491P|NFAT5_ENST00000567239.1_Missense_Mutation_p.S584P	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	567					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAGACCTTGCTCTTTTGAAGA	0.343																																					p.S585P		Atlas-SNP	.											.	NFAT5	184	.	0			c.T1753C						.						66.0	71.0	69.0					16																	69718852		2198	4300	6498	SO:0001583	missense	10725	exon11			CCTTGCTCTTTTG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1699T>C	chr16.hg19:g.69718852T>C	ENSP00000346420:p.Ser567Pro	103.0	0.0		103.0	5.0	NM_138713	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	hg19	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.268392	0.80469	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.48836	0.81;0.81;0.8;0.81	5.32	5.32	0.75619	Immunoglobulin E-set (1);	0.113037	0.64402	D	0.000007	T	0.52805	0.1757	L	0.51422	1.61	0.58432	D	0.999996	D;D;D;D	0.60575	0.98;0.98;0.978;0.988	P;P;P;P	0.54706	0.578;0.578;0.585;0.759	T	0.52087	-0.8622	10	0.40728	T	0.16	.	10.5188	0.44907	0.1445:0.0:0.0:0.8555	.	584;567;585;491	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	P	585;584;491;567;491	ENSP00000396538:S585P;ENSP00000338806:S491P;ENSP00000346420:S567P;ENSP00000377343:S491P	ENSP00000338806:S491P	S	+	1	0	NFAT5	68276353	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.953000	0.63624	2.014000	0.59158	0.533000	0.62120	TCT	.	.		0.343	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714	
GLG1	2734	hgsc.bcm.edu	37	16	74528659	74528659	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:74528659T>C	ENST00000422840.2	-	6	1048	c.1049A>G	c.(1048-1050)aAg>aGg	p.K350R	GLG1_ENST00000447066.2_Splice_Site_p.K339R|GLG1_ENST00000205061.5_Splice_Site_p.K350R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	350					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AATACTTACCTTTTCACTCAT	0.363																																					p.K350R		Atlas-SNP	.											.	GLG1	106	.	0			c.A1049G						.						78.0	78.0	78.0					16																	74528659		2198	4300	6498	SO:0001630	splice_region_variant	2734	exon6			CTTACCTTTTCAC		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1050+1A>G	chr16.hg19:g.74528659T>C		76.0	0.0		91.0	4.0	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	hg19	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980583	0.53827	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.94	5.94	0.96194	.	0.052465	0.85682	D	0.000000	T	0.47619	0.1455	L	0.40543	1.245	0.58432	D	0.999998	B;B;B	0.15141	0.002;0.012;0.002	B;B;B	0.16289	0.015;0.009;0.003	T	0.40850	-0.9541	9	0.35671	T	0.21	-0.0085	10.6992	0.45918	0.0:0.0707:0.0:0.9293	.	350;350;339	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	R	350;339;350	.	ENSP00000205061:K350R	K	-	2	0	GLG1	73086160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.601000	0.61090	2.275000	0.75901	0.528000	0.53228	AAG	.	.		0.363	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	Missense_Mutation
CNTNAP4	85445	hgsc.bcm.edu	37	16	76523688	76523688	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr16:76523688T>C	ENST00000476707.1	+	12	2136	c.1997T>C	c.(1996-1998)aTg>aCg	p.M666T	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.M614T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.M590T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.M662T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	663	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTGGCCAGCATGGAGCAACTT	0.453																																					p.M590T		Atlas-SNP	.											.	CNTNAP4	600	.	0			c.T1769C						.						55.0	43.0	47.0					16																	76523688		2198	4300	6498	SO:0001583	missense	85445	exon12			CCAGCATGGAGCA	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1997T>C	chr16.hg19:g.76523688T>C	ENSP00000417628:p.Met666Thr	145.0	0.0		109.0	5.0	NM_138994	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	hg19		.	.	.	.	.	.	.	.	.	.	T	4.787	0.146293	0.09134	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.55	1.13	0.20643	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.08268	0.0206	.	.	.	0.32735	N	0.508424	B;B;B;B	0.09022	0.0;0.002;0.001;0.0	B;B;B;B	0.09377	0.002;0.002;0.004;0.001	T	0.29792	-1.0000	8	0.19590	T	0.45	.	8.8403	0.35137	0.0:0.2388:0.0:0.7612	.	590;666;638;663	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	T	662;614;590;666	ENSP00000306893:M662T;ENSP00000439733:M614T;ENSP00000418741:M590T;ENSP00000417628:M666T	ENSP00000306893:M662T	M	+	2	0	CNTNAP4	75081189	0.079000	0.21365	0.999000	0.59377	0.997000	0.91878	0.377000	0.20552	0.360000	0.24265	0.455000	0.32223	ATG	.	.		0.453	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
ZZEF1	23140	hgsc.bcm.edu	37	17	3920939	3920939	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:3920939T>C	ENST00000381638.2	-	48	7851	c.7727A>G	c.(7726-7728)cAg>cGg	p.Q2576R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2576							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATAGCTCTGCTGCAGTTCGCT	0.597																																					p.Q2576R		Atlas-SNP	.											.	ZZEF1	195	.	0			c.A7727G						.						80.0	77.0	78.0					17																	3920939		2203	4300	6503	SO:0001583	missense	23140	exon48			CTCTGCTGCAGTT	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7727A>G	chr17.hg19:g.3920939T>C	ENSP00000371051:p.Gln2576Arg	130.0	0.0		98.0	4.0	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656663	0.47467	.	.	ENSG00000074755	ENST00000381638	T	0.21361	2.01	5.29	4.2	0.49525	.	0.062472	0.64402	D	0.000003	T	0.12135	0.0295	N	0.19112	0.55	0.53688	D	0.99997	B	0.14012	0.009	B	0.12156	0.007	T	0.12344	-1.0551	10	0.18710	T	0.47	-13.6364	9.4366	0.38643	0.0:0.1425:0.0:0.8575	.	2576	O43149	ZZEF1_HUMAN	R	2576	ENSP00000371051:Q2576R	ENSP00000371051:Q2576R	Q	-	2	0	ZZEF1	3867688	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.997000	0.57016	2.009000	0.58944	0.528000	0.53228	CAG	.	.		0.597	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
ZNF232	7775	hgsc.bcm.edu	37	17	5009622	5009622	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:5009622A>G	ENST00000250076.3	-	5	1486	c.832T>C	c.(832-834)Tgg>Cgg	p.W278R	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000575898.1_Missense_Mutation_p.W269R|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	251					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GCAGGGGACCACCTCAGTCTC	0.468																																					p.W278R		Atlas-SNP	.											.	ZNF232	42	.	0			c.T832C						.						102.0	101.0	101.0					17																	5009622		2203	4300	6503	SO:0001583	missense	7775	exon5			GGGACCACCTCAG	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.832T>C	chr17.hg19:g.5009622A>G	ENSP00000250076:p.Trp278Arg	80.0	0.0		78.0	4.0	NM_014519		Missense_Mutation	SNP	ENST00000250076.3	hg19	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	A	6.227	0.410026	0.11812	.	.	ENSG00000167840	ENST00000250076	T	0.00912	5.55	2.99	-5.98	0.02220	.	3.492970	0.01390	N	0.013220	T	0.00724	0.0024	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48115	-0.9063	10	0.22109	T	0.4	.	2.9235	0.05777	0.5675:0.1174:0.1756:0.1394	.	251;242	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	R	278	ENSP00000250076:W278R	ENSP00000250076:W278R	W	-	1	0	ZNF232	4950346	0.000000	0.05858	0.000000	0.03702	0.566000	0.35808	-1.363000	0.02592	-1.665000	0.01477	-0.242000	0.12053	TGG	.	.		0.468	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519	
RABEP1	9135	hgsc.bcm.edu	37	17	5235279	5235279	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:5235279G>A	ENST00000546142.2	+	3	386	c.199G>A	c.(199-201)Gca>Aca	p.A67T	RABEP1_ENST00000262477.6_Missense_Mutation_p.A67T|RABEP1_ENST00000537505.1_Missense_Mutation_p.A24T|RABEP1_ENST00000341923.6_Missense_Mutation_p.A67T|RABEP1_ENST00000408982.2_Missense_Mutation_p.A67T			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	67					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ATTACAAGCTGCACAAGATGA	0.433																																					p.A67T		Atlas-SNP	.											.	RABEP1	59	.	0			c.G199A						.						116.0	105.0	109.0					17																	5235279		1910	4123	6033	SO:0001583	missense	9135	exon3			CAAGCTGCACAAG	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.199G>A	chr17.hg19:g.5235279G>A	ENSP00000437701:p.Ala67Thr	38.0	0.0		41.0	4.0	NM_004703	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	hg19	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903509	0.72754	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.48836	0.84;0.85;0.84;0.85;0.8	6.17	6.17	0.99709	.	0.047483	0.85682	D	0.000000	T	0.42314	0.1197	L	0.47716	1.5	0.58432	D	0.99999	B;B;B;B;B;B	0.31318	0.141;0.214;0.214;0.087;0.141;0.319	B;B;B;B;B;B	0.26416	0.041;0.056;0.031;0.018;0.041;0.069	T	0.24119	-1.0169	10	0.13470	T	0.59	-12.8487	19.8676	0.96824	0.0:0.0:1.0:0.0	.	24;24;67;67;67;67	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	T	67;67;67;67;67;24	ENSP00000262477:A67T;ENSP00000386150:A67T;ENSP00000437701:A67T;ENSP00000339569:A67T;ENSP00000445408:A24T	ENSP00000262477:A67T	A	+	1	0	RABEP1	5176003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.295000	0.59049	2.941000	0.99782	0.655000	0.94253	GCA	.	.		0.433	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	
POLR2A	5430	hgsc.bcm.edu	37	17	7416450	7416450	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:7416450T>C	ENST00000322644.6	+	29	5266	c.4867T>C	c.(4867-4869)Tcc>Ccc	p.S1623P		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1623	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				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)				ACCCTCCTACTCCCCTACCTC	0.592																																					p.S1623P		Atlas-SNP	.											.	POLR2A	157	.	0			c.T4867C						.						283.0	282.0	282.0					17																	7416450		2203	4300	6503	SO:0001583	missense	5430	exon29			TCCTACTCCCCTA			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.4867T>C	chr17.hg19:g.7416450T>C	ENSP00000314949:p.Ser1623Pro	213.0	0.0		190.0	9.0	NM_000937	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	hg19	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.581869	0.28180	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.73469	-0.75	3.71	3.71	0.42584	.	0.300781	0.26304	N	0.025148	D	0.83207	0.5204	M	0.93978	3.48	0.80722	D	1	P	0.43826	0.818	P	0.50314	0.637	D	0.85166	0.0995	10	0.87932	D	0	-16.3469	6.626	0.22830	0.34:0.0:0.0:0.66	.	1623	P24928	RPB1_HUMAN	P	1579;522;1623	ENSP00000314949:S1623P	ENSP00000314949:S1623P	S	+	1	0	SLC35G6	7357174	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	2.156000	0.42310	1.682000	0.51000	0.374000	0.22700	TCC	.	.		0.592	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
CHD3	1107	hgsc.bcm.edu	37	17	7804563	7804563	+	Splice_Site	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:7804563A>G	ENST00000330494.7	+	20	3272	c.3122A>G	c.(3121-3123)gAg>gGg	p.E1041G	CHD3_ENST00000358181.4_Splice_Site_p.E1041G|CHD3_ENST00000380358.4_Splice_Site_p.E1100G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1041					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTTTTCAGGAGTCCCCCAAA	0.562																																					p.E1100G		Atlas-SNP	.											.	CHD3	169	.	0			c.A3299G						.						72.0	77.0	75.0					17																	7804563		2203	4300	6503	SO:0001630	splice_region_variant	1107	exon20			TTCAGGAGTCCCC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3121-1A>G	chr17.hg19:g.7804563A>G		64.0	0.0		71.0	4.0	NM_001005271	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	hg19	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638377	0.67130	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.92249	-3.0;-2.91;-2.93	5.14	5.14	0.70334	.	0.000000	0.46758	D	0.000263	D	0.96722	0.8930	M	0.90870	3.155	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.78314	0.991;0.979;0.986	D	0.97628	1.0140	10	0.87932	D	0	-34.5159	15.122	0.72450	1.0:0.0:0.0:0.0	.	1041;1041;1100	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	G	1100;1041;1041	ENSP00000369716:E1100G;ENSP00000350907:E1041G;ENSP00000332628:E1041G	ENSP00000332628:E1041G	E	+	2	0	CHD3	7745288	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.139000	0.94554	2.169000	0.68431	0.459000	0.35465	GAG	.	.		0.562	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	Missense_Mutation
DNAH9	1770	hgsc.bcm.edu	37	17	11757692	11757692	+	Missense_Mutation	SNP	G	G	A	rs368607572		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:11757692G>A	ENST00000262442.4	+	50	9948	c.9880G>A	c.(9880-9882)Gcg>Acg	p.A3294T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3294T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3294	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAAGCCACCGCGGACCTCAC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16213	0.0		0.0	False		,,,				2504	0.0				p.A3294T		Atlas-SNP	.											.	DNAH9	695	.	0			c.G9880A						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	53.0	55.0	54.0		9880	-5.5	0.0	17		54	0,8600		0,0,4300	no	missense	DNAH9	NM_001372.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	3294/4487	11757692	1,13005	2203	4300	6503	SO:0001583	missense	1770	exon50			GCCACCGCGGACC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9880G>A	chr17.hg19:g.11757692G>A	ENSP00000262442:p.Ala3294Thr	113.0	0.0		115.0	44.0	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	6.821	0.520661	0.13005	2.27E-4	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.76578	-1.03;-1.03	5.44	-5.49	0.02584	Dynein heavy chain, coiled coil stalk (1);	1.599710	0.03137	N	0.166106	T	0.79753	0.4500	M	0.73753	2.245	0.09310	N	1	B	0.21753	0.06	B	0.28991	0.097	T	0.62891	-0.6758	10	0.19147	T	0.46	.	19.8505	0.96738	0.0774:0.0:0.7888:0.1339	.	3294	Q9NYC9	DYH9_HUMAN	T	3294;3294;1876	ENSP00000262442:A3294T;ENSP00000414874:A3294T	ENSP00000262442:A3294T	A	+	1	0	DNAH9	11698417	0.000000	0.05858	0.005000	0.12908	0.231000	0.25187	0.225000	0.17757	-1.336000	0.02238	-0.274000	0.10170	GCG	.	.		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
COX10	1352	hgsc.bcm.edu	37	17	13972945	13972945	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:13972945T>C	ENST00000261643.3	+	1	100	c.23T>C	c.(22-24)cTc>cCc	p.L8P	COX10-AS1_ENST00000449363.1_RNA|COX10_ENST00000536205.1_5'UTR|COX10-AS1_ENST00000602539.1_RNA|COX10_ENST00000537334.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.L8P|COX10-AS1_ENST00000602743.1_RNA	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	8					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCGCACACTCTCTCCTCACGC	0.622																																					p.L8P		Atlas-SNP	.											.	COX10	36	.	0			c.T23C						.						61.0	55.0	57.0					17																	13972945		2203	4300	6503	SO:0001583	missense	1352	exon1			ACACTCTCTCCTC	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.23T>C	chr17.hg19:g.13972945T>C	ENSP00000261643:p.Leu8Pro	127.0	0.0		137.0	7.0	NM_001303	B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	hg19	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	T	8.606	0.887998	0.17540	.	.	ENSG00000006695	ENST00000261643	T	0.48836	0.8	4.32	4.32	0.51571	.	0.918277	0.09389	N	0.808761	T	0.44008	0.1273	L	0.57536	1.79	0.28085	N	0.932045	B	0.10296	0.003	B	0.06405	0.002	T	0.39375	-0.9617	10	0.72032	D	0.01	-3.2653	6.6186	0.22790	0.0:0.1035:0.0:0.8965	.	8	Q12887	COX10_HUMAN	P	8	ENSP00000261643:L8P	ENSP00000261643:L8P	L	+	2	0	COX10	13913670	0.007000	0.16637	0.014000	0.15608	0.002000	0.02628	1.421000	0.34815	2.164000	0.68074	0.528000	0.53228	CTC	.	.		0.622	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303	
NCOR1	9611	hgsc.bcm.edu	37	17	15973506	15973506	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:15973506A>G	ENST00000268712.3	-	31	4743	c.4486T>C	c.(4486-4488)Tca>Cca	p.S1496P	NCOR1_ENST00000395851.1_Missense_Mutation_p.S1512P|NCOR1_ENST00000395857.3_Missense_Mutation_p.S80P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1496	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATCATGGGTGAGCCTCTGGAC	0.408																																					p.S1512P		Atlas-SNP	.											.	NCOR1	240	.	0			c.T4534C						.						213.0	207.0	209.0					17																	15973506		2203	4300	6503	SO:0001583	missense	9611	exon30			TGGGTGAGCCTCT	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4486T>C	chr17.hg19:g.15973506A>G	ENSP00000268712:p.Ser1496Pro	116.0	0.0		101.0	5.0	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596464	0.86953	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.67345	-0.26;0.37;-0.13	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.82089	0.4961	M	0.79475	2.455	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;P;D	0.83275	0.996;0.993;0.852;0.929	D	0.84463	0.0595	10	0.87932	D	0	-8.4663	15.3508	0.74384	1.0:0.0:0.0:0.0	.	307;1403;1496;1512	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	P	1496;1512;1403;80	ENSP00000268712:S1496P;ENSP00000379192:S1512P;ENSP00000379198:S80P	ENSP00000268712:S1496P	S	-	1	0	NCOR1	15914231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.650000	0.91073	2.221000	0.72209	0.533000	0.62120	TCA	.	.		0.408	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
SMCR8	140775	hgsc.bcm.edu	37	17	18219495	18219495	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:18219495G>A	ENST00000406438.3	+	1	872	c.392G>A	c.(391-393)gGc>gAc	p.G131D	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	131						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCTAAGGAGGGCGCCTTTGCA	0.557																																					p.G131D		Atlas-SNP	.											.	SMCR8	62	.	0			c.G392A						.						89.0	91.0	90.0					17																	18219495		2203	4300	6503	SO:0001583	missense	140775	exon1			AGGAGGGCGCCTT	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.392G>A	chr17.hg19:g.18219495G>A	ENSP00000385025:p.Gly131Asp	42.0	0.0		61.0	4.0	NM_144775	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	hg19	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143160	0.57044	.	.	ENSG00000176994	ENST00000406438	D	0.98684	-5.07	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.98005	0.9343	L	0.35723	1.085	0.58432	D	0.999999	D	0.56035	0.974	P	0.53912	0.737	D	0.97766	1.0223	10	0.36615	T	0.2	-45.2015	20.073	0.97731	0.0:0.0:1.0:0.0	.	131	Q8TEV9	SMCR8_HUMAN	D	131	ENSP00000385025:G131D	ENSP00000385025:G131D	G	+	2	0	SMCR8	18160220	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.794000	0.62482	2.750000	0.94351	0.655000	0.94253	GGC	.	.		0.557	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775	
PSMD3	5709	hgsc.bcm.edu	37	17	38142922	38142922	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:38142922T>C	ENST00000264639.4	+	3	680	c.506T>C	c.(505-507)cTc>cCc	p.L169P	PSMD3_ENST00000541736.1_Missense_Mutation_p.L31P	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	169					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)|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)|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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TATCTCCAACTCCTCGTGGTC	0.542																																					p.L169P	Ovarian(186;531 2051 6385 19668 48409)	Atlas-SNP	.											.	PSMD3	56	.	0			c.T506C						.						163.0	150.0	155.0					17																	38142922		2203	4300	6503	SO:0001583	missense	5709	exon3			TCCAACTCCTCGT	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.506T>C	chr17.hg19:g.38142922T>C	ENSP00000264639:p.Leu169Pro	124.0	0.0		97.0	4.0	NM_002809	B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	hg19	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.887581	0.52014	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	D;D	0.87809	-2.3;-2.3	5.35	5.35	0.76521	.	0.066703	0.64402	D	0.000007	D	0.92625	0.7657	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93482	0.6828	10	0.87932	D	0	-19.474	15.0207	0.71630	0.0:0.0:0.0:1.0	.	169	O43242	PSMD3_HUMAN	P	169;156;31	ENSP00000264639:L169P;ENSP00000442508:L31P	ENSP00000264639:L169P	L	+	2	0	PSMD3	35396448	1.000000	0.71417	0.747000	0.31113	0.138000	0.21146	5.868000	0.69605	2.020000	0.59435	0.379000	0.24179	CTC	.	.		0.542	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809	
BECN1	8678	hgsc.bcm.edu	37	17	40970263	40970263	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:40970263T>C	ENST00000361523.4	-	7	791	c.659A>G	c.(658-660)gAg>gGg	p.E220G	BECN1_ENST00000438274.3_Missense_Mutation_p.E144G|BECN1_ENST00000590099.1_Missense_Mutation_p.E220G	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	220					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ATCCAGTCTCTCAGCCTCAGC	0.537																																					p.E220G		Atlas-SNP	.											.	BECN1	23	.	0			c.A659G						.						151.0	136.0	141.0					17																	40970263		2203	4300	6503	SO:0001583	missense	8678	exon7			AGTCTCTCAGCCT	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.659A>G	chr17.hg19:g.40970263T>C	ENSP00000355231:p.Glu220Gly	245.0	0.0		199.0	8.0	NM_003766	B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	hg19	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872225	0.72180	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.48522	0.81;0.81	5.82	5.82	0.92795	.	0.103982	0.64402	D	0.000003	T	0.60818	0.2298	M	0.64404	1.975	0.51233	D	0.999912	D;D	0.55800	0.973;0.962	P;P	0.55824	0.785;0.784	T	0.60052	-0.7338	10	0.40728	T	0.16	.	16.1917	0.81992	0.0:0.0:0.0:1.0	.	144;220	E7EV84;Q14457	.;BECN1_HUMAN	G	220;144;133	ENSP00000355231:E220G;ENSP00000416173:E144G	ENSP00000355231:E220G	E	-	2	0	BECN1	38223789	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	5.503000	0.66962	2.216000	0.71823	0.533000	0.62120	GAG	.	.		0.537	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766	
SPAG9	9043	hgsc.bcm.edu	37	17	49043633	49043633	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:49043633T>C	ENST00000262013.7	-	30	4174	c.3966A>G	c.(3964-3966)tgA>tgG	p.*1322W	SPAG9_ENST00000510283.1_Nonstop_Mutation_p.*1178W|SPAG9_ENST00000509724.1_5'Flank|SPAG9_ENST00000505279.1_Nonstop_Mutation_p.*1312W|SPAG9_ENST00000357122.4_Nonstop_Mutation_p.*1308W	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	0					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCCCATGGGCTCACTCATTGC	0.433																																					p.X1322W		Atlas-SNP	.											.	SPAG9	151	.	0			c.A3966G						.						192.0	181.0	185.0					17																	49043633		2203	4300	6503	SO:0001578	stop_lost	9043	exon30			ATGGGCTCACTCA	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3966A>G	chr17.hg19:g.49043633T>C	ENSP00000262013:p.*1322Cysext*25	93.0	0.0		85.0	5.0	NM_001130528	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	hg19	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	T	9.014	0.983260	0.18889	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	.	.	.	5.65	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9178	0.52776	0.0:0.0682:0.0:0.9318	.	.	.	.	W	1322;1079;1069;1178;1312;1308;920	.	.	X	-	3	0	SPAG9	46398632	1.000000	0.71417	0.986000	0.45419	0.001000	0.01503	6.729000	0.74775	1.073000	0.40885	-0.297000	0.09499	TGA	.	.		0.433	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
MRPS23	51649	hgsc.bcm.edu	37	17	55918549	55918549	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:55918549A>G	ENST00000313608.8	-	3	333	c.288T>C	c.(286-288)tgT>tgC	p.C96C	MRPS23_ENST00000578444.1_Silent_p.C96C	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	96					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTTACCGTTGACAGGTAGACT	0.318																																					p.C96C		Atlas-SNP	.											.	MRPS23	16	.	0			c.T288C						.						105.0	107.0	106.0					17																	55918549		2203	4300	6503	SO:0001819	synonymous_variant	51649	exon3			CCGTTGACAGGTA	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.288T>C	chr17.hg19:g.55918549A>G		72.0	0.0		64.0	4.0	NM_016070	B2R6V3|Q96Q24|Q9BWH8|Q9P053	Silent	SNP	ENST00000313608.8	hg19	CCDS11598.1																																																																																			.	.		0.318	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070	
MED13	9969	hgsc.bcm.edu	37	17	60050201	60050201	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:60050201A>G	ENST00000397786.2	-	17	3930	c.3854T>C	c.(3853-3855)cTt>cCt	p.L1285P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1285					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AACTGGCTGAAGAGAGAGGAG	0.403																																					p.L1285P		Atlas-SNP	.											.	MED13	181	.	0			c.T3854C						.						203.0	200.0	201.0					17																	60050201		1869	4108	5977	SO:0001583	missense	9969	exon17			GGCTGAAGAGAGA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3854T>C	chr17.hg19:g.60050201A>G	ENSP00000380888:p.Leu1285Pro	75.0	0.0		81.0	4.0	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	hg19	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634984	0.87760	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74421	-0.84	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.88129	0.2837	10	0.87932	D	0	-19.1759	16.1839	0.81934	1.0:0.0:0.0:0.0	.	1285	Q9UHV7	MED13_HUMAN	P	1285;1284	ENSP00000380888:L1285P	ENSP00000262436:L1284P	L	-	2	0	MED13	57404983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.222000	0.72286	0.533000	0.62120	CTT	.	.		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MRC2	9902	hgsc.bcm.edu	37	17	60766239	60766239	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:60766239C>A	ENST00000303375.5	+	23	3654	c.3252C>A	c.(3250-3252)agC>agA	p.S1084R	MRC2_ENST00000580916.1_3'UTR|MRC2_ENST00000446119.2_Missense_Mutation_p.A30D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1084	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TCCTGCACAGCCCCTCAGCCC	0.647																																					p.S1084R		Atlas-SNP	.											.	MRC2	126	.	0			c.C3252A						.						33.0	29.0	30.0					17																	60766239		2203	4300	6503	SO:0001583	missense	9902	exon23			GCACAGCCCCTCA	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3252C>A	chr17.hg19:g.60766239C>A	ENSP00000307513:p.Ser1084Arg	127.0	0.0		124.0	42.0	NM_006039	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	hg19	CCDS11634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.88|11.88	1.770068|1.770068	0.31320|0.31320	.|.	.|.	ENSG00000011028|ENSG00000011028	ENST00000446119|ENST00000303375	T|T	0.03301|0.18657	3.98|2.2	4.46|4.46	3.48|3.48	0.39840|0.39840	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.049850	.|0.85682	.|D	.|0.000000	T|T	0.20170|0.20170	0.0485|0.0485	L|L	0.34521|0.34521	1.04|1.04	0.25380|0.25380	N|N	0.988623|0.988623	D|P	0.58268|0.43938	0.982|0.822	P|P	0.50708|0.48400	0.648|0.576	T|T	0.09443|0.09443	-1.0674|-1.0674	9|10	0.40728|0.14656	T|T	0.16|0.56	-37.4987|-37.4987	10.8344|10.8344	0.46679|0.46679	0.0:0.7893:0.1319:0.0788|0.0:0.7893:0.1319:0.0788	.|.	30|1084	E7EME3|Q9UBG0	.|MRC2_HUMAN	D|R	30|1084	ENSP00000400445:A30D|ENSP00000307513:S1084R	ENSP00000400445:A30D|ENSP00000307513:S1084R	A|S	+|+	2|3	0|2	MRC2|MRC2	58119971|58119971	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.657000|0.657000	0.38888|0.38888	0.865000|0.865000	0.27940|0.27940	0.500000|0.500000	0.27991|0.27991	-1.598000|-1.598000	0.00824|0.00824	GCC|AGC	.	.		0.647	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		
PSMD12	5718	hgsc.bcm.edu	37	17	65338310	65338310	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:65338310A>G	ENST00000356126.3	-	10	1260	c.1153T>C	c.(1153-1155)Tct>Cct	p.S385P	PSMD12_ENST00000357146.4_Missense_Mutation_p.S365P	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	385	PCI.				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)|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)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					ACATCAACAGATAGATCCAGA	0.343																																					p.S385P		Atlas-SNP	.											.	PSMD12	32	.	0			c.T1153C						.						157.0	151.0	153.0					17																	65338310		2203	4300	6503	SO:0001583	missense	5718	exon10			CAACAGATAGATC	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1153T>C	chr17.hg19:g.65338310A>G	ENSP00000348442:p.Ser385Pro	90.0	0.0		80.0	4.0	NM_002816	A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	hg19	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.745742	0.30955	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.45668	0.89;0.89	4.91	4.91	0.64330	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.096735	0.64402	D	0.000001	T	0.34774	0.0909	L	0.39467	1.215	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.24006	0.029;0.05	T	0.12811	-1.0533	10	0.13108	T	0.6	-1.7845	14.8495	0.70286	1.0:0.0:0.0:0.0	.	365;385	A6NP15;O00232	.;PSD12_HUMAN	P	385;365	ENSP00000348442:S385P;ENSP00000349667:S365P	ENSP00000348442:S385P	S	-	1	0	PSMD12	62768772	1.000000	0.71417	0.904000	0.35570	0.769000	0.43574	5.920000	0.70017	1.980000	0.57719	0.454000	0.30748	TCT	.	.		0.343	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871	
BPTF	2186	hgsc.bcm.edu	37	17	65971931	65971931	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:65971931A>G	ENST00000321892.4	+	29	9022	c.8961A>G	c.(8959-8961)gaA>gaG	p.E2987E	RN7SL622P_ENST00000585292.1_RNA|BPTF_ENST00000424123.3_Silent_p.E2705E|BPTF_ENST00000335221.5_Silent_p.E2844E|BPTF_ENST00000306378.6_Silent_p.E2861E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2987	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATATTATGAAAAGCTGACGG	0.363																																					p.E2861E		Atlas-SNP	.											BPTF_ENST00000335221,caecum,carcinoma,0,2	BPTF	415	.	0			c.A8583G						.						91.0	89.0	90.0					17																	65971931		2203	4300	6503	SO:0001819	synonymous_variant	2186	exon27			TTATGAAAAGCTG	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8961A>G	chr17.hg19:g.65971931A>G		74.0	0.0		56.0	3.0	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	hg19																																																																																				.	.		0.363	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ABCA6	23460	hgsc.bcm.edu	37	17	67096941	67096941	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:67096941A>G	ENST00000284425.2	-	22	3183	c.3009T>C	c.(3007-3009)ccT>ccC	p.P1003P	MIR4524B_ENST00000581569.1_RNA|ABCA6_ENST00000446604.2_5'Flank	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1003					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TACTTACAAGAGGAAATGGGC	0.313																																					p.P1003P		Atlas-SNP	.											.	ABCA6	210	.	0			c.T3009C						.						90.0	88.0	88.0					17																	67096941		2201	4298	6499	SO:0001819	synonymous_variant	23460	exon22			TACAAGAGGAAAT	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3009T>C	chr17.hg19:g.67096941A>G		125.0	0.0		89.0	4.0	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	hg19	CCDS11683.1																																																																																			.	.		0.313	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA10	10349	hgsc.bcm.edu	37	17	67190540	67190540	+	Missense_Mutation	SNP	G	G	A	rs113082690|rs200155538	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:67190540G>A	ENST00000269081.4	-	13	2240	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	ABCA10_ENST00000416101.2_Missense_Mutation_p.S444F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	444	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGTAGAAACAGACAATCCACT	0.328																																					p.S444F		Atlas-SNP	.											.,5	ABCA10	209	.	0			c.C1331T						.						116.0	111.0	113.0					17																	67190540		2192	4289	6481	SO:0001583	missense	10349	exon13			GAAACAGACAATC	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1331C>T	chr17.hg19:g.67190540G>A	ENSP00000269081:p.Ser444Phe	39.0	0.0		44.0	8.0	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	hg19	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497627	0.44455	.	.	ENSG00000154263	ENST00000269081;ENST00000416101	T;D	0.93247	1.12;-3.19	3.8	-0.228	0.13098	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.30118	U	0.010364	D	0.84915	0.5578	N	0.11845	0.185	0.24712	N	0.993191	B;B	0.30146	0.27;0.116	B;B	0.31245	0.126;0.118	T	0.66536	-0.5899	10	0.09338	T	0.73	.	18.3875	0.90471	0.0:0.741:0.259:0.0	.	444;444	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	F	444	ENSP00000269081:S444F;ENSP00000407772:S444F	ENSP00000269081:S444F	S	-	2	0	ABCA10	64702135	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	0.017000	0.13399	-0.209000	0.10156	0.557000	0.71058	TCT	.	.		0.328	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
RNF213	57674	hgsc.bcm.edu	37	17	78280933	78280933	+	Silent	SNP	T	T	C	rs577690513	byFrequency	TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:78280933T>C	ENST00000582970.1	+	13	2576	c.2433T>C	c.(2431-2433)gtT>gtC	p.V811V	RNF213_ENST00000508628.2_Silent_p.V860V|RNF213_ENST00000319921.4_Silent_p.V811V|RNF213_ENST00000456466.1_Silent_p.V811V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	811					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTAGGATGTTCAGGATGTTC	0.408																																					p.V811V		Atlas-SNP	.											.	RNF213	766	.	0			c.T2433C						.						152.0	155.0	154.0					17																	78280933		2203	4300	6503	SO:0001819	synonymous_variant	57674	exon13			GGATGTTCAGGAT	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2433T>C	chr17.hg19:g.78280933T>C		93.0	0.0		121.0	5.0	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	hg19	CCDS58606.1																																																																																			.	.		0.408	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
RNF213	57674	hgsc.bcm.edu	37	17	78346832	78346832	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr17:78346832T>C	ENST00000582970.1	+	49	12952	c.12809T>C	c.(12808-12810)gTg>gCg	p.V4270A	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2343A|RNF213_ENST00000508628.2_Missense_Mutation_p.V4319A|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4270					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTATCCGGGTGGAGAACGAC	0.627																																					p.V4270A		Atlas-SNP	.											.	RNF213	766	.	0			c.T12809C						.						80.0	78.0	79.0					17																	78346832		2203	4300	6503	SO:0001583	missense	57674	exon49			TCCGGGTGGAGAA	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12809T>C	chr17.hg19:g.78346832T>C	ENSP00000464087:p.Val4270Ala	135.0	0.0		95.0	6.0	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	4.010	-0.000795	0.07819	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.20463	2.07	5.5	-11.0	0.00169	.	1.235040	0.05478	N	0.554278	T	0.08313	0.0207	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.30387	-0.9980	10	0.02654	T	1	.	9.9204	0.41462	0.0:0.5989:0.3196:0.0815	.	4319;2343	C9JCP4;Q63HN8	.;RN213_HUMAN	A	4270;4319;2343	ENSP00000338218:V2343A	ENSP00000338218:V2343A	V	+	2	0	RNF213	75961427	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.828000	0.04419	-2.486000	0.00520	-0.291000	0.09656	GTG	.	.		0.627	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
MYOM1	8736	hgsc.bcm.edu	37	18	3090725	3090725	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr18:3090725C>T	ENST00000356443.4	-	27	4273	c.3940G>A	c.(3940-3942)Gga>Aga	p.G1314R	RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.G1314R|MYOM1_ENST00000261606.7_Missense_Mutation_p.G1218R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1314					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTGTACGTTCCCTCATCCTCA	0.403																																					p.G1314R		Atlas-SNP	.											.	MYOM1	192	.	0			c.G3940A						.						201.0	197.0	198.0					18																	3090725		1967	4154	6121	SO:0001583	missense	8736	exon27			ACGTTCCCTCATC	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3940G>A	chr18.hg19:g.3090725C>T	ENSP00000348821:p.Gly1314Arg	216.0	0.0		165.0	30.0	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	hg19	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426311	0.83667	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.17054	2.3;2.3;2.3	5.7	4.83	0.62350	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.41627	-0.9498	10	0.20046	T	0.44	.	14.4195	0.67173	0.0:0.9295:0.0:0.0704	.	1218;1314	P52179-2;P52179	.;MYOM1_HUMAN	R	1314;1314;1218	ENSP00000348821:G1314R;ENSP00000383413:G1314R;ENSP00000261606:G1218R	ENSP00000261606:G1218R	G	-	1	0	MYOM1	3080725	1.000000	0.71417	0.988000	0.46212	0.977000	0.68977	7.818000	0.86416	1.412000	0.46977	0.591000	0.81541	GGA	.	.		0.403	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
ANKRD12	23253	hgsc.bcm.edu	37	18	9254527	9254527	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr18:9254527T>C	ENST00000262126.4	+	9	1502	c.1262T>C	c.(1261-1263)gTc>gCc	p.V421A	ANKRD12_ENST00000383440.2_Missense_Mutation_p.V398A|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V398A	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	421						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CCATCTAGGGTCTTATATTCA	0.323																																					p.V421A		Atlas-SNP	.											.	ANKRD12	167	.	0			c.T1262C						.						70.0	81.0	77.0					18																	9254527		2203	4291	6494	SO:0001583	missense	23253	exon9			CTAGGGTCTTATA	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1262T>C	chr18.hg19:g.9254527T>C	ENSP00000262126:p.Val421Ala	80.0	0.0		76.0	4.0	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	hg19	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219622	0.39201	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	T;T	0.04970	3.53;3.52	5.86	5.86	0.93980	.	0.064020	0.64402	D	0.000008	T	0.22126	0.0533	L	0.60455	1.87	0.44754	D	0.997754	D;D;D	0.69078	0.997;0.995;0.997	P;P;D	0.72625	0.826;0.648;0.978	T	0.00112	-1.2043	10	0.54805	T	0.06	-11.1792	16.2507	0.82485	0.0:0.0:0.0:1.0	.	48;398;421	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	A	398;421;128	ENSP00000372932:V398A;ENSP00000262126:V421A	ENSP00000262126:V421A	V	+	2	0	ANKRD12	9244527	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.396000	0.79891	2.237000	0.73441	0.528000	0.53228	GTC	.	.		0.323	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
CCDC178	374864	hgsc.bcm.edu	37	18	30517978	30517978	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr18:30517978A>G	ENST00000383096.3	-	23	2783	c.2601T>C	c.(2599-2601)ggT>ggC	p.G867G	CCDC178_ENST00000300227.8_Silent_p.G829G|CCDC178_ENST00000581852.1_Silent_p.G72G|CCDC178_ENST00000403303.1_Silent_p.G867G|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000406524.2_Silent_p.G891G|CCDC178_ENST00000402325.1_Silent_p.G817G|CCDC178_ENST00000583930.1_Silent_p.G891G|CCDC178_ENST00000579916.1_Silent_p.G187G			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	867																	TGTTTGCTTAACCATCGTTTT	0.373																																					p.G867G		Atlas-SNP	.											.	.	.	.	0			c.T2601C						.						176.0	156.0	163.0					18																	30517978		2203	4300	6503	SO:0001819	synonymous_variant	374864	exon22			TGCTTAACCATCG	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2601T>C	chr18.hg19:g.30517978A>G		144.0	0.0		87.0	4.0	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	hg19	CCDS42424.1																																																																																			.	.		0.373	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
EPG5	57724	hgsc.bcm.edu	37	18	43496028	43496028	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr18:43496028A>G	ENST00000282041.5	-	19	3562	c.3528T>C	c.(3526-3528)gcT>gcC	p.A1176A	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1176					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCAGCTGAAAAGCTGCTTTAC	0.423																																					p.A1176A		Atlas-SNP	.											.	EPG5	199	.	0			c.T3528C						.						63.0	60.0	61.0					18																	43496028		1914	4128	6042	SO:0001819	synonymous_variant	57724	exon19			CTGAAAAGCTGCT	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3528T>C	chr18.hg19:g.43496028A>G		82.0	0.0		55.0	4.0	NM_020964	A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	hg19	CCDS11926.2																																																																																			.	.		0.423	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
MYO5B	4645	hgsc.bcm.edu	37	18	47402100	47402100	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr18:47402100A>G	ENST00000285039.7	-	26	3793	c.3494T>C	c.(3493-3495)gTg>gCg	p.V1165A	MYO5B_ENST00000324581.6_Missense_Mutation_p.V306A|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1165					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTCCAGCTGCACTTGCAGCTT	0.527																																					p.V1165A		Atlas-SNP	.											.	MYO5B	178	.	0			c.T3494C						.						197.0	202.0	200.0					18																	47402100		2068	4197	6265	SO:0001583	missense	4645	exon26			AGCTGCACTTGCA	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3494T>C	chr18.hg19:g.47402100A>G	ENSP00000285039:p.Val1165Ala	155.0	0.0		98.0	4.0	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	hg19	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	5.754	0.323586	0.10900	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.16457	2.34;2.34	5.28	-1.97	0.07503	.	0.967479	0.08524	N	0.932958	T	0.09335	0.0230	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43130	-0.9410	10	0.08837	T	0.75	.	7.2826	0.26320	0.209:0.3943:0.3967:0.0	.	1165;306	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1165;306	ENSP00000285039:V1165A;ENSP00000315531:V306A	ENSP00000285039:V1165A	V	-	2	0	MYO5B	45656098	0.001000	0.12720	0.962000	0.40283	0.991000	0.79684	-0.109000	0.10840	-0.261000	0.09405	0.459000	0.35465	GTG	.	.		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
TCF4	6925	hgsc.bcm.edu	37	18	53018227	53018227	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr18:53018227A>G	ENST00000356073.4	-	7	988	c.377T>C	c.(376-378)cTc>cCc	p.L126P	TCF4_ENST00000544241.2_Missense_Mutation_p.L55P|TCF4_ENST00000537578.1_Missense_Mutation_p.L102P|TCF4_ENST00000565018.2_Missense_Mutation_p.L126P|TCF4_ENST00000566286.1_Missense_Mutation_p.L124P|TCF4_ENST00000568740.1_Missense_Mutation_p.L101P|TCF4_ENST00000540999.1_Missense_Mutation_p.L102P|TCF4_ENST00000537856.3_5'UTR|TCF4_ENST00000564999.1_Missense_Mutation_p.L126P|TCF4_ENST00000564228.1_Missense_Mutation_p.L55P|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000561992.1_5'UTR|TCF4_ENST00000543082.1_Missense_Mutation_p.L84P|TCF4_ENST00000570177.2_5'UTR|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000564403.2_Missense_Mutation_p.L126P|TCF4_ENST00000354452.3_Missense_Mutation_p.L126P|TCF4_ENST00000568673.1_Missense_Mutation_p.L102P|TCF4_ENST00000398339.1_Missense_Mutation_p.L228P	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	126					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACCTCCAAGGAGACTCTGCTA	0.418																																					p.L228P		Atlas-SNP	.											.	TCF4	178	.	0			c.T683C						.						90.0	87.0	88.0					18																	53018227		2203	4300	6503	SO:0001583	missense	6925	exon8			CCAAGGAGACTCT	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.377T>C	chr18.hg19:g.53018227A>G	ENSP00000348374:p.Leu126Pro	125.0	0.0		100.0	4.0	NM_001243226	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211818	0.39102	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000398339	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.57	5.57	0.84162	.	0.078741	0.51477	D	0.000096	T	0.58935	0.2157	L	0.54323	1.7	0.80722	D	1	B;D;D;D;D;B;B	0.89917	0.051;0.997;0.999;1.0;0.993;0.051;0.051	B;D;D;D;P;B;B	0.74674	0.04;0.969;0.984;0.972;0.788;0.04;0.04	T	0.61758	-0.6997	10	0.87932	D	0	-28.8421	13.5428	0.61684	1.0:0.0:0.0:0.0	.	102;126;102;228;126;84;55	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	P	126;126;84;102;102;55;228	ENSP00000346440:L126P;ENSP00000348374:L126P;ENSP00000439656:L84P;ENSP00000445202:L102P;ENSP00000440731:L102P;ENSP00000441562:L55P;ENSP00000381382:L228P	ENSP00000346440:L126P	L	-	2	0	TCF4	51169225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.350000	0.79385	2.244000	0.73946	0.533000	0.62120	CTC	.	.		0.418	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	
MED16	10025	hgsc.bcm.edu	37	19	873468	873468	+	Missense_Mutation	SNP	A	A	G	rs367567945		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:873468A>G	ENST00000589119.1	-	10	1885	c.1886T>C	c.(1885-1887)cTg>cCg	p.L629P	MED16_ENST00000325464.1_Missense_Mutation_p.L629P|MED16_ENST00000606828.1_5'Flank|MED16_ENST00000395808.3_Missense_Mutation_p.L629P|MED16_ENST00000312090.6_Missense_Mutation_p.L629P|MED16_ENST00000269814.4_Missense_Mutation_p.L629P			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	629					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		TAGGCTGGCCAGCAGGTACAG	0.642																																					p.L629P		Atlas-SNP	.											.	MED16	61	.	0			c.T1886C						.						98.0	76.0	84.0					19																	873468		2202	4296	6498	SO:0001583	missense	10025	exon11			CTGGCCAGCAGGT	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1886T>C	chr19.hg19:g.873468A>G	ENSP00000464810:p.Leu629Pro	66.0	0.0		88.0	5.0	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	hg19	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	a	18.67	3.673050	0.67928	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000424039	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000006	T	0.49201	0.1543	M	0.67397	2.05	0.80722	D	1	B;B;B;B;P	0.35192	0.23;0.149;0.433;0.433;0.489	B;B;B;B;B	0.38106	0.124;0.065;0.11;0.172;0.265	T	0.53606	-0.8415	10	0.51188	T	0.08	-25.8475	12.866	0.57939	1.0:0.0:0.0:0.0	.	629;629;629;629;629	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	P	629	ENSP00000325612:L629P;ENSP00000308528:L629P;ENSP00000379153:L629P;ENSP00000269814:L629P	ENSP00000269814:L629P	L	-	2	0	MED16	824468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.592000	0.90828	1.627000	0.50400	0.454000	0.30748	CTG	.	.		0.642	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481	
SBNO2	22904	hgsc.bcm.edu	37	19	1112458	1112458	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:1112458G>A	ENST00000361757.3	-	21	2695	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C	SBNO2_ENST00000438103.2_Missense_Mutation_p.R763C|SBNO2_ENST00000587024.1_Missense_Mutation_p.R810C	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	820					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		ATGTGCACGCGGCGCCGCTGG	0.721																																					p.R820C		Atlas-SNP	.											.	SBNO2	112	.	0			c.C2458T						.						14.0	20.0	18.0					19																	1112458		2020	4148	6168	SO:0001583	missense	22904	exon21			GCACGCGGCGCCG	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2458C>T	chr19.hg19:g.1112458G>A	ENSP00000354733:p.Arg820Cys	104.0	0.0		49.0	15.0	NM_014963	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	hg19	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402718	0.83230	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	H	0.95645	3.7	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91392	0.5136	9	0.87932	D	0	-31.7737	17.2654	0.87085	0.0:0.0:1.0:0.0	.	820;763	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	C	820;763;827	.	ENSP00000250872:R827C	R	-	1	0	SBNO2	1063458	1.000000	0.71417	0.931000	0.37212	0.771000	0.43674	2.526000	0.45607	2.323000	0.78572	0.448000	0.29417	CGC	.	.		0.721	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963	
ZNF562	54811	hgsc.bcm.edu	37	19	9768758	9768758	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:9768758A>G	ENST00000448622.1	-	4	330	c.168T>C	c.(166-168)gcT>gcC	p.A56A	ZNF562_ENST00000541032.1_Silent_p.A19A|ZNF562_ENST00000293648.4_Intron|ZNF562_ENST00000453372.2_Silent_p.A56A|ZNF562_ENST00000453792.2_5'UTR|ZNF562_ENST00000537617.1_Intron|ZNF562_ENST00000587392.1_Silent_p.A56A|ZNF562_ENST00000590155.1_Silent_p.A56A	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TGTCCAGTAAAGCCCACTCCT	0.473																																					p.A56A		Atlas-SNP	.											.	ZNF562	72	.	0			c.T168C						.						96.0	88.0	90.0					19																	9768758		692	1591	2283	SO:0001819	synonymous_variant	54811	exon4			CAGTAAAGCCCAC	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.168T>C	chr19.hg19:g.9768758A>G		142.0	0.0		69.0	4.0	NM_001130032	Q32MN2|Q9NXS5	Silent	SNP	ENST00000448622.1	hg19	CCDS45956.1																																																																																			.	.		0.473	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656	
OLFM2	93145	hgsc.bcm.edu	37	19	9965137	9965137	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:9965137C>T	ENST00000264833.4	-	6	1275	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	OLFM2_ENST00000590841.1_Missense_Mutation_p.G286S|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	364	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TTGGGGTAGCCGGTGTCCCAG	0.642																																					p.G364S		Atlas-SNP	.											.	OLFM2	42	.	0			c.G1090A						.						81.0	76.0	78.0					19																	9965137		2203	4300	6503	SO:0001583	missense	93145	exon6			GGTAGCCGGTGTC	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1090G>A	chr19.hg19:g.9965137C>T	ENSP00000264833:p.Gly364Ser	126.0	0.0		86.0	4.0	NM_058164	Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	hg19	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321952	0.60634	.	.	ENSG00000105088	ENST00000264833	D	0.88277	-2.36	4.36	4.36	0.52297	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	L	0.28014	0.82	0.80722	D	1	P	0.47484	0.896	B	0.38616	0.277	T	0.80863	-0.1192	9	.	.	.	.	14.4229	0.67196	0.0:1.0:0.0:0.0	.	364	O95897	NOE2_HUMAN	S	364	ENSP00000264833:G364S	.	G	-	1	0	OLFM2	9826137	0.937000	0.31787	1.000000	0.80357	0.991000	0.79684	2.523000	0.45580	2.239000	0.73571	0.561000	0.74099	GGC	.	.		0.642	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1		
PDE4A	5141	hgsc.bcm.edu	37	19	10572599	10572599	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:10572599T>C	ENST00000352831.6	+	13	1777	c.1667T>C	c.(1666-1668)cTg>cCg	p.L556P	PDE4A_ENST00000592685.1_Missense_Mutation_p.L534P|PDE4A_ENST00000440014.2_Missense_Mutation_p.L495P|PDE4A_ENST00000344979.3_Missense_Mutation_p.L317P|PDE4A_ENST00000380702.2_Missense_Mutation_p.L534P|PDE4A_ENST00000293683.5_Missense_Mutation_p.L530P	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	556	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGGCTGACCTGAAGACCATG	0.632																																					p.L556P		Atlas-SNP	.											.	PDE4A	236	.	0			c.T1667C						.						115.0	96.0	103.0					19																	10572599		2203	4300	6503	SO:0001583	missense	5141	exon13			CTGACCTGAAGAC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1667T>C	chr19.hg19:g.10572599T>C	ENSP00000270474:p.Leu556Pro	50.0	0.0		30.0	4.0	NM_001111307	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	hg19	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288532	0.80914	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	3.73	3.73	0.42828	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000001	D	0.94295	0.8167	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.98;1.0;0.999;0.999;1.0	D	0.94703	0.7885	10	0.87932	D	0	.	10.4073	0.44272	0.0:0.0:0.0:1.0	.	222;317;495;530;556	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	P	534;556;530;495;317;222	ENSP00000370078:L534P;ENSP00000270474:L556P;ENSP00000293683:L530P;ENSP00000394754:L495P;ENSP00000341007:L317P	ENSP00000293683:L530P	L	+	2	0	PDE4A	10433599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	1.576000	0.49790	0.397000	0.26171	CTG	.	.		0.632	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		
ATG4D	84971	hgsc.bcm.edu	37	19	10659671	10659671	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:10659671T>C	ENST00000309469.4	+	6	1100	c.927T>C	c.(925-927)ggT>ggC	p.G309G	ATG4D_ENST00000540862.1_Intron|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	309					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCGACTGGGTGGCGAGACTC	0.602																																					p.G309G		Atlas-SNP	.											.	ATG4D	47	.	0			c.T927C						.						126.0	94.0	105.0					19																	10659671		2203	4300	6503	SO:0001819	synonymous_variant	84971	exon6			ACTGGGTGGCGAG	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.927T>C	chr19.hg19:g.10659671T>C		138.0	0.0		117.0	5.0	NM_032885	Q969K0	Silent	SNP	ENST00000309469.4	hg19	CCDS12241.1																																																																																			.	.		0.602	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
HSH2D	84941	hgsc.bcm.edu	37	19	16268213	16268213	+	Missense_Mutation	SNP	A	A	G	rs375451762		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:16268213A>G	ENST00000253680.6	+	9	1198	c.667A>G	c.(667-669)Agc>Ggc	p.S223G	HSH2D_ENST00000588246.1_Missense_Mutation_p.K223R|HSH2D_ENST00000397372.4_Missense_Mutation_p.S133G|HSH2D_ENST00000593154.2_Missense_Mutation_p.K223R			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	223					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CAGCTAAAAAAGCCACCTCGC	0.587																																					p.S223G		Atlas-SNP	.											.	HSH2D	16	.	0			c.A667G						.						62.0	70.0	67.0					19																	16268213		1973	4154	6127	SO:0001583	missense	84941	exon9			TAAAAAAGCCACC	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.667A>G	chr19.hg19:g.16268213A>G	ENSP00000253680:p.Ser223Gly	93.0	0.0		163.0	7.0	NM_032855	B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	hg19		.	.	.	.	.	.	.	.	.	.	A	3.608	-0.080131	0.07141	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.57595	0.39	.	.	.	.	7739.210000	0.00166	N	0.000000	T	0.40839	0.1133	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36237	-0.9756	7	0.72032	D	0.01	.	.	.	.	.	223	Q96JZ2	HSH2D_HUMAN	G	133;223	ENSP00000253680:S223G	ENSP00000253680:S223G	S	+	1	0	HSH2D	16129213	0.000000	0.05858	0.033000	0.17914	0.002000	0.02628	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	AGC	.	.		0.587	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855	
ZNF91	7644	hgsc.bcm.edu	37	19	23556628	23556628	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:23556628A>G	ENST00000300619.7	-	3	374	c.169T>C	c.(169-171)Tct>Cct	p.S57P	ZNF91_ENST00000397082.2_Intron|ZNF91_ENST00000599743.1_Missense_Mutation_p.S57P	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TCTGGCTTAGAGAGAGCAATA	0.398																																					p.S57P		Atlas-SNP	.											.	ZNF91	349	.	0			c.T169C						.						74.0	78.0	76.0					19																	23556628		2202	4299	6501	SO:0001583	missense	7644	exon3			GCTTAGAGAGAGC	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.169T>C	chr19.hg19:g.23556628A>G	ENSP00000300619:p.Ser57Pro	117.0	0.0		71.0	4.0	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	hg19	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	A	0.178	-1.065310	0.01934	.	.	ENSG00000167232	ENST00000300619	T	0.00824	5.65	0.158	0.158	0.14942	Krueppel-associated box (3);	.	.	.	.	T	0.01061	0.0035	L	0.45470	1.425	0.09310	N	1	B	0.21147	0.052	B	0.24269	0.052	T	0.45512	-0.9256	8	0.23891	T	0.37	.	.	.	.	.	57	Q05481	ZNF91_HUMAN	P	57	ENSP00000300619:S57P	ENSP00000300619:S57P	S	-	1	0	ZNF91	23348468	0.363000	0.24989	0.080000	0.20451	0.079000	0.17450	0.149000	0.16243	0.175000	0.19841	0.172000	0.16884	TCT	.	.		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
TSHZ3	57616	hgsc.bcm.edu	37	19	31769301	31769301	+	Silent	SNP	C	C	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:31769301C>G	ENST00000240587.4	-	2	1725	c.1398G>C	c.(1396-1398)ctG>ctC	p.L466L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	466					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTCCACATTCAGTTTTGGGG	0.542																																					p.L466L		Atlas-SNP	.											.	TSHZ3	549	.	0			c.G1398C						.						142.0	144.0	143.0					19																	31769301		2203	4300	6503	SO:0001819	synonymous_variant	57616	exon2			CACATTCAGTTTT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1398G>C	chr19.hg19:g.31769301C>G		191.0	0.0		177.0	34.0	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	hg19	CCDS12421.2																																																																																			.	.		0.542	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
KIAA0355	9710	hgsc.bcm.edu	37	19	34818735	34818735	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:34818735C>T	ENST00000299505.6	+	5	1779	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	302										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AAGCCGGCTTCCACCTGAATC	0.433																																					p.F302F		Atlas-SNP	.											.	KIAA0355	105	.	0			c.C906T						.						86.0	92.0	90.0					19																	34818735		2203	4300	6503	SO:0001819	synonymous_variant	9710	exon5			CGGCTTCCACCTG		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.906C>T	chr19.hg19:g.34818735C>T		99.0	0.0		88.0	13.0	NM_014686	Q2M3W4	Silent	SNP	ENST00000299505.6	hg19	CCDS12436.1																																																																																			.	.		0.433	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686	
PROSER3	148137	hgsc.bcm.edu	37	19	36258938	36258938	+	Splice_Site	SNP	G	G	A	rs398034467|rs5827939		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:36258938G>A	ENST00000396908.4	+	9	1264	c.1191G>A	c.(1189-1191)caG>caA	p.Q397Q	AC002398.13_ENST00000589397.1_RNA|C19orf55_ENST00000544099.1_Silent_p.Q397Q	NM_001039887.2	NP_001034976.2	Q2NL68	PRSR3_HUMAN		398										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTTGCCCAGGGCCGCCCTG	0.731																																					.		Atlas-SNP	.											.,11	C19orf55	39	.	0			c.1190+1G>A						.						1.0	1.0	1.0					19																	36258938		567	1236	1803	SO:0001630	splice_region_variant	148137	exon9			TGCCCAGGGCCGC																												ENST00000396908.4:c.1191+1G>A	chr19.hg19:g.36258938G>A		16.0	0.0		16.0	2.0	NM_001039887	Q8NDI3|Q8WWC8|Q96NL4	Splice_Site	SNP	ENST00000396908.4	hg19																																																																																				.	.		0.731	C19orf55-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			Silent
NPHS1	4868	hgsc.bcm.edu	37	19	36330220	36330220	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:36330220T>C	ENST00000378910.5	-	22	3027	c.3028A>G	c.(3028-3030)Agg>Ggg	p.R1010G	NPHS1_ENST00000353632.6_Missense_Mutation_p.R1010G	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1010	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCAGACCCTGTATCTTGTA	0.597																																					p.R1010G		Atlas-SNP	.											.	NPHS1	165	.	0			c.A3028G						.						97.0	89.0	92.0					19																	36330220		2203	4300	6503	SO:0001583	missense	4868	exon22			AGACCCTGTATCT		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3028A>G	chr19.hg19:g.36330220T>C	ENSP00000368190:p.Arg1010Gly	88.0	0.0		76.0	4.0	NM_004646	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	hg19	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	9.941	1.217397	0.22373	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.57752	0.38;0.38	4.61	3.53	0.40419	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.447401	0.24949	N	0.034313	T	0.37785	0.1016	L	0.28649	0.875	0.24027	N	0.996121	B	0.22346	0.068	B	0.26770	0.073	T	0.16482	-1.0401	10	0.23891	T	0.37	-8.4248	9.5549	0.39332	0.0:0.0:0.1884:0.8116	.	1010	O60500	NPHN_HUMAN	G	1010	ENSP00000368190:R1010G;ENSP00000343634:R1010G	ENSP00000343634:R1010G	R	-	1	2	NPHS1	41022060	0.993000	0.37304	0.998000	0.56505	0.962000	0.63368	2.126000	0.42026	1.943000	0.56356	0.477000	0.44152	AGG	.	.		0.597	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
SAMD4B	55095	hgsc.bcm.edu	37	19	39868421	39868421	+	Silent	SNP	C	C	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:39868421C>G	ENST00000314471.6	+	10	2436	c.1401C>G	c.(1399-1401)gcC>gcG	p.A467A	SAMD4B_ENST00000598913.1_Silent_p.A467A|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTCCCGTCGCCGACGGAGACA	0.617																																					p.A467A		Atlas-SNP	.											.	SAMD4B	48	.	0			c.C1401G						.						38.0	40.0	39.0					19																	39868421		2203	4299	6502	SO:0001819	synonymous_variant	55095	exon10			CGTCGCCGACGGA		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1401C>G	chr19.hg19:g.39868421C>G		88.0	0.0		78.0	12.0	NM_018028	A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	hg19	CCDS33020.1																																																																																			.	.		0.617	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028	
ADCK4	79934	hgsc.bcm.edu	37	19	41220249	41220249	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:41220249T>C	ENST00000324464.3	-	3	457	c.156A>G	c.(154-156)agA>agG	p.R52R	ADCK4_ENST00000243583.6_Silent_p.R52R|ADCK4_ENST00000450541.1_Silent_p.R52R|ITPKC_ENST00000263370.2_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	52						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CACCCAGGCCTCTCCCAGGCC	0.597																																					p.R52R		Atlas-SNP	.											.	ADCK4	92	.	0			c.A156G						.						65.0	70.0	68.0					19																	41220249		2203	4300	6503	SO:0001819	synonymous_variant	79934	exon3			CAGGCCTCTCCCA	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.156A>G	chr19.hg19:g.41220249T>C		60.0	0.0		52.0	4.0	NM_001142555	Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	hg19	CCDS12562.1																																																																																			.	.		0.597	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	
LMTK3	114783	hgsc.bcm.edu	37	19	49003158	49003158	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:49003158A>G	ENST00000600059.1	-	11	1395	c.1168T>C	c.(1168-1170)Tcc>Ccc	p.S390P	LMTK3_ENST00000270238.3_Missense_Mutation_p.S419P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGCCAGCAGGACTGAAGAATG	0.652																																					p.S419P		Atlas-SNP	.											.	LMTK3	125	.	0			c.T1255C						.						7.0	8.0	7.0					19																	49003158		1945	4024	5969	SO:0001583	missense	114783	exon12			AGCAGGACTGAAG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1168T>C	chr19.hg19:g.49003158A>G	ENSP00000472020:p.Ser390Pro	116.0	0.0		100.0	4.0	NM_001080434	Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	hg19		.	.	.	.	.	.	.	.	.	.	A	14.12	2.439806	0.43326	.	.	ENSG00000142235	ENST00000270238	D	0.83419	-1.72	3.72	2.68	0.31781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.077128	0.51477	D	0.000085	D	0.84338	0.5450	L	0.46947	1.48	0.40970	D	0.984698	D	0.63046	0.992	D	0.65443	0.935	T	0.80594	-0.1313	10	0.32370	T	0.25	.	7.8702	0.29561	0.8152:0.0:0.0:0.1847	.	390	Q96Q04	LMTK3_HUMAN	P	419	ENSP00000270238:S419P	ENSP00000270238:S419P	S	-	1	0	LMTK3	53694970	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	6.544000	0.73878	0.592000	0.29728	0.329000	0.21502	TCC	.	.		0.652	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
HRC	3270	hgsc.bcm.edu	37	19	49657916	49657916	+	Silent	SNP	T	T	C	rs7409255		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:49657916T>C	ENST00000252825.4	-	1	765	c.579A>G	c.(577-579)gaA>gaG	p.E193E	HRC_ENST00000595625.1_Silent_p.E193E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	193	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcttcTCCTTCAT	0.557																																					p.E193E	Melanoma(37;75 1097 24567 25669 30645)	Atlas-SNP	.											.	HRC	85	.	0			c.A579G						.						119.0	95.0	103.0					19																	49657916		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			CTCCTCTTCTCCT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.579A>G	chr19.hg19:g.49657916T>C		126.0	0.0		175.0	15.0	NM_002152	Q504Y6	Silent	SNP	ENST00000252825.4	hg19	CCDS12759.1																																																																																			.	.		0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
HRC	3270	hgsc.bcm.edu	37	19	49657920	49657920	+	Missense_Mutation	SNP	C	C	T	rs200730671		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:49657920C>T	ENST00000252825.4	-	1	761	c.575G>A	c.(574-576)gGa>gAa	p.G192E	HRC_ENST00000595625.1_Missense_Mutation_p.G192E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	192	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ctcctcttcTCCTTCATCATC	0.562																																					p.G192E	Melanoma(37;75 1097 24567 25669 30645)	Atlas-SNP	.											.	HRC	85	.	0			c.G575A						.						124.0	98.0	107.0					19																	49657920		2203	4300	6503	SO:0001583	missense	3270	exon1			TCTTCTCCTTCAT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.575G>A	chr19.hg19:g.49657920C>T	ENSP00000252825:p.Gly192Glu	130.0	0.0		177.0	13.0	NM_002152	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	hg19	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.835792	0.00579	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.05717	3.4	2.59	-1.01	0.10169	.	.	.	.	.	T	0.02156	0.0067	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46289	-0.9202	9	0.02654	T	1	4.5523	7.8184	0.29274	0.0:0.7009:0.0:0.2991	.	192	P23327	SRCH_HUMAN	E	192;162	ENSP00000252825:G192E	ENSP00000252825:G192E	G	-	2	0	HRC	54349732	0.005000	0.15991	0.001000	0.08648	0.082000	0.17680	-0.740000	0.04861	-0.145000	0.11294	-0.389000	0.06534	GGA	.	.		0.562	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
ZNF28	7576	hgsc.bcm.edu	37	19	53303761	53303761	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:53303761T>C	ENST00000457749.2	-	4	1456	c.1337A>G	c.(1336-1338)aAg>aGg	p.K446R	ZNF28_ENST00000360272.4_Missense_Mutation_p.K393R|ZNF28_ENST00000438150.2_Missense_Mutation_p.K393R|ZNF28_ENST00000414252.2_Missense_Mutation_p.K393R	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTAAAAACCTTGCCACATTC	0.368																																					p.K446R		Atlas-SNP	.											.	ZNF28	191	.	0			c.A1337G						.						111.0	115.0	114.0					19																	53303761		2203	4300	6503	SO:0001583	missense	7576	exon4			AAAACCTTGCCAC	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1337A>G	chr19.hg19:g.53303761T>C	ENSP00000397693:p.Lys446Arg	53.0	0.0		70.0	4.0	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	hg19	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	14.80	2.644985	0.47258	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34077	0.0885	L	0.28458	0.855	0.25343	N	0.988933	D	0.57571	0.98	D	0.70935	0.971	T	0.09618	-1.0666	9	0.62326	D	0.03	.	8.2975	0.31995	0.0:0.0:0.0:1.0	.	446	P17035	ZNF28_HUMAN	R	393;446;393;393;393	ENSP00000412143:K393R;ENSP00000397693:K446R;ENSP00000353410:K393R;ENSP00000444965:K393R;ENSP00000375661:K393R	ENSP00000353410:K393R	K	-	2	0	ZNF28	57995573	0.935000	0.31712	0.037000	0.18230	0.023000	0.10783	2.740000	0.47418	0.792000	0.33850	0.156000	0.16432	AAG	.	.		0.368	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
LILRB5	10990	hgsc.bcm.edu	37	19	54759311	54759311	+	Missense_Mutation	SNP	C	C	T	rs376519844		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:54759311C>T	ENST00000316219.5	-	5	897	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	LILRB5_ENST00000450632.1_Missense_Mutation_p.V255I|LILRB5_ENST00000345866.6_Missense_Mutation_p.V164I|LILRB5_ENST00000449561.2_Missense_Mutation_p.V264I	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	264	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCCTGGACGAGGTCATGT	0.652																																					p.V264I		Atlas-SNP	.											.	LILRB5	176	.	0			c.G790A						.	C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	50.0	49.0	49.0		790,490,790	0.2	0.0	19		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	264/592,164/492,264/591	54759311	2,13004	2203	4300	6503	SO:0001583	missense	10990	exon5			CCTGGACGAGGTC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.790G>A	chr19.hg19:g.54759311C>T	ENSP00000320390:p.Val264Ile	217.0	0.0		228.0	28.0	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	hg19	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	2.988	-0.208894	0.06140	2.27E-4	1.16E-4	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	2.62	0.214	0.15249	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.098760	0.02459	N	0.086366	T	0.05640	0.0148	N	0.16130	0.375	0.09310	N	1	B;P;B;B;B	0.41597	0.197;0.756;0.136;0.078;0.054	B;B;B;B;B	0.34038	0.067;0.174;0.035;0.015;0.046	T	0.27400	-1.0075	10	0.21540	T	0.41	.	4.7798	0.13197	0.0:0.2451:0.5056:0.2493	.	255;155;164;264;264	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	I	264;255;264;164	ENSP00000320390:V264I;ENSP00000414225:V255I;ENSP00000406478:V264I;ENSP00000263430:V164I	ENSP00000320390:V264I	V	-	1	0	LILRB5	59451123	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.659000	0.05323	0.136000	0.18733	-0.428000	0.05917	GTC	.	.		0.652	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
ZNF71	58491	hgsc.bcm.edu	37	19	57133319	57133319	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr19:57133319G>A	ENST00000328070.6	+	3	898	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTGTGGCAAGGCCTTCCGGAA	0.647																																					p.A222T		Atlas-SNP	.											.	ZNF71	69	.	0			c.G664A						.						55.0	46.0	49.0					19																	57133319		2203	4300	6503	SO:0001583	missense	58491	exon3			GGCAAGGCCTTCC	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.664G>A	chr19.hg19:g.57133319G>A	ENSP00000328245:p.Ala222Thr	100.0	0.0		118.0	18.0	NM_021216	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	hg19	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694000	0.30052	.	.	ENSG00000197951	ENST00000328070	T	0.13778	2.56	3.47	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.01817	-0.705	0.21861	N	0.999505	B	0.33883	0.43	B	0.31869	0.137	T	0.30650	-0.9971	9	0.27785	T	0.31	.	5.6102	0.17400	0.1098:0.0:0.6973:0.1929	.	222	Q9NQZ8	ZNF71_HUMAN	T	222	ENSP00000328245:A222T	ENSP00000328245:A222T	A	+	1	0	ZNF71	61825131	0.000000	0.05858	0.993000	0.49108	0.457000	0.32468	-0.946000	0.03905	1.777000	0.52277	0.561000	0.74099	GCC	.	.		0.647	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
DEFB126	81623	hgsc.bcm.edu	37	20	126206	126206	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:126206T>C	ENST00000382398.3	+	2	469	c.209T>C	c.(208-210)gTt>gCt	p.V70A	DEFB126_ENST00000542572.1_Intron	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	70					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AATTATCCTGTTTTCTGTGTC	0.433																																					p.V70A		Atlas-SNP	.											.	DEFB126	52	.	0			c.T209C						.						169.0	142.0	151.0					20																	126206		2203	4300	6503	SO:0001583	missense	81623	exon2			ATCCTGTTTTCTG		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.209T>C	chr20.hg19:g.126206T>C	ENSP00000371835:p.Val70Ala	109.0	0.0		134.0	6.0	NM_030931	Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	hg19	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.739998	0.00675	.	.	ENSG00000125788	ENST00000382398	T	0.38077	1.16	3.02	-6.04	0.02178	.	17.788600	0.00166	N	0.000000	T	0.12689	0.0308	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23476	-1.0187	10	0.07990	T	0.79	.	2.9649	0.05905	0.2486:0.1201:0.0933:0.5379	.	70	Q9BYW3	DB126_HUMAN	A	70	ENSP00000371835:V70A	ENSP00000371835:V70A	V	+	2	0	DEFB126	74206	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.305000	0.01133	-3.271000	0.00199	-1.329000	0.01275	GTT	.	.		0.433	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
SIRPB2	284759	hgsc.bcm.edu	37	20	1460431	1460431	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:1460431G>A	ENST00000359801.3	-	2	401	c.365C>T	c.(364-366)aCt>aTt	p.T122I	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000608747.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	114	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTAGGTTCCAGTGTGCTCCCT	0.488																																					p.T122I		Atlas-SNP	.											.	SIRPB2	50	.	0			c.C365T						.						134.0	119.0	124.0					20																	1460431		1568	3582	5150	SO:0001583	missense	284759	exon2			GTTCCAGTGTGCT	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.365C>T	chr20.hg19:g.1460431G>A	ENSP00000352849:p.Thr122Ile	233.0	0.0		217.0	61.0	NM_001122962	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	hg19	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742104	0.30865	.	.	ENSG00000196209	ENST00000359801	T	0.68331	-0.32	4.13	2.12	0.27331	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.927056	0.09011	N	0.861546	T	0.56702	0.2003	L	0.46819	1.47	0.30217	N	0.797182	B	0.29862	0.259	B	0.28232	0.087	T	0.56763	-0.7925	10	0.72032	D	0.01	-1.7633	5.0834	0.14668	0.109:0.0:0.6862:0.2048	.	122	Q5JXA9	SIRB2_HUMAN	I	122	ENSP00000352849:T122I	ENSP00000352849:T122I	T	-	2	0	SIRPB2	1408431	0.082000	0.21442	0.739000	0.30968	0.880000	0.50808	0.075000	0.14686	0.492000	0.27815	0.655000	0.94253	ACT	.	.		0.488	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459	
CHGB	1114	hgsc.bcm.edu	37	20	5903684	5903684	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:5903684T>C	ENST00000378961.4	+	4	1098	c.894T>C	c.(892-894)agT>agC	p.S298S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	298						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAGGAGGGAGTCTTCCCTCTG	0.582																																					p.S298S		Atlas-SNP	.											.	CHGB	112	.	0			c.T894C						.						28.0	30.0	29.0					20																	5903684		2203	4300	6503	SO:0001819	synonymous_variant	1114	exon4			AGGGAGTCTTCCC		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.894T>C	chr20.hg19:g.5903684T>C		79.0	0.0		72.0	4.0	NM_001819	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	hg19	CCDS13092.1																																																																																			.	.		0.582	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
FERMT1	55612	hgsc.bcm.edu	37	20	6057869	6057869	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:6057869T>A	ENST00000217289.4	-	15	2773	c.1985A>T	c.(1984-1986)gAa>gTa	p.E662V	FERMT1_ENST00000536936.1_Missense_Mutation_p.E405V|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	662					cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATCGAGTGTTTCATTCTGGTC	0.527											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E662V		Atlas-SNP	.											.	FERMT1	106	.	0			c.A1985T						.						103.0	93.0	97.0					20																	6057869		2203	4300	6503	SO:0001583	missense	55612	exon15			AGTGTTTCATTCT	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1985A>T	chr20.hg19:g.6057869T>A	ENSP00000217289:p.Glu662Val	167.0	0.0	631	137.0	23.0	NM_017671	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	hg19	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	T	33	5.218220	0.95104	.	.	ENSG00000101311	ENST00000217289;ENST00000536936	T;T	0.38077	1.16;1.16	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.64219	-0.6459	10	0.66056	D	0.02	-5.3488	16.1008	0.81169	0.0:0.0:0.0:1.0	.	662	Q9BQL6	FERM1_HUMAN	V	662;405	ENSP00000217289:E662V;ENSP00000441063:E405V	ENSP00000217289:E662V	E	-	2	0	FERMT1	6005869	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.930000	0.87610	2.206000	0.71126	0.533000	0.62120	GAA	.	.		0.527	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	
TPX2	22974	hgsc.bcm.edu	37	20	30366726	30366726	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:30366726T>C	ENST00000300403.6	+	10	1521	c.993T>C	c.(991-993)gtT>gtC	p.V331V	TPX2_ENST00000340513.4_Silent_p.V331V	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	331					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CACAGCAAGTTGAAGACTTCC	0.403																																					p.V331V		Atlas-SNP	.											.	TPX2	61	.	0			c.T993C						.						120.0	111.0	114.0					20																	30366726		2203	4300	6503	SO:0001819	synonymous_variant	22974	exon10			GCAAGTTGAAGAC	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.993T>C	chr20.hg19:g.30366726T>C		96.0	0.0		92.0	4.0	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Silent	SNP	ENST00000300403.6	hg19	CCDS13190.1																																																																																			.	.		0.403	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
BPIFB3	359710	hgsc.bcm.edu	37	20	31644372	31644372	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:31644372A>G	ENST00000375494.3	+	2	149	c.149A>G	c.(148-150)gAg>gGg	p.E50G	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	50	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTGGTTGGGGAGCCCATTCTG	0.607																																					p.E50G		Atlas-SNP	.											.	.	.	.	0			c.A149G						.						95.0	96.0	96.0					20																	31644372		2203	4300	6503	SO:0001583	missense	359710	exon2			TTGGGGAGCCCAT	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.149A>G	chr20.hg19:g.31644372A>G	ENSP00000364643:p.Glu50Gly	101.0	0.0		91.0	4.0	NM_182658	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	hg19	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	A	0.430	-0.903634	0.02453	.	.	ENSG00000186190	ENST00000375494	T	0.05580	3.42	4.57	2.63	0.31362	.	0.224806	0.31061	N	0.008337	T	0.01320	0.0043	N	0.00182	-1.905	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.46400	-0.9194	10	0.14252	T	0.57	-7.6424	7.1807	0.25770	0.2043:0.0:0.7957:0.0	.	50	P59826	BPIB3_HUMAN	G	50	ENSP00000364643:E50G	ENSP00000364643:E50G	E	+	2	0	BPIFB3	31108033	0.993000	0.37304	0.472000	0.27241	0.830000	0.47004	2.689000	0.46993	0.538000	0.28769	-0.146000	0.13790	GAG	.	.		0.607	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	
L3MBTL1	26013	hgsc.bcm.edu	37	20	42157387	42157387	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:42157387T>C	ENST00000427442.2	+	8	1044		c.e8+2		L3MBTL1_ENST00000444063.1_Splice_Site|L3MBTL1_ENST00000457824.1_Splice_Site|L3MBTL1_ENST00000373135.3_Splice_Site|L3MBTL1_ENST00000373134.1_Splice_Site|L3MBTL1_ENST00000418998.1_Splice_Site			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)						chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCCAGGACGTGAGTTGGACA	0.542																																					.		Atlas-SNP	.											.	L3MBTL1	105	.	0			c.885+2T>C						.						93.0	82.0	86.0					20																	42157387		2203	4300	6503	SO:0001630	splice_region_variant	26013	exon8			AGGACGTGAGTTG	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.885+2T>C	chr20.hg19:g.42157387T>C		146.0	0.0		118.0	5.0	NM_032107	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Splice_Site	SNP	ENST00000427442.2	hg19	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068361	0.76301	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6845	0.69040	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	L3MBTL1	41590801	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.108000	0.71522	2.122000	0.65172	0.455000	0.32223	.	.	.		0.542	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	Intron
IFT52	51098	hgsc.bcm.edu	37	20	42252541	42252541	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:42252541A>G	ENST00000373030.3	+	10	909	c.779A>G	c.(778-780)tAc>tGc	p.Y260C	IFT52_ENST00000373039.4_Missense_Mutation_p.Y260C	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	260					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATTTCTGACTACATGATGCTG	0.483																																					p.Y260C		Atlas-SNP	.											.	IFT52	40	.	0			c.A779G						.						123.0	113.0	116.0					20																	42252541		2203	4300	6503	SO:0001583	missense	51098	exon10			CTGACTACATGAT	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.779A>G	chr20.hg19:g.42252541A>G	ENSP00000362121:p.Tyr260Cys	126.0	0.0		94.0	4.0	NM_016004	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	hg19	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934048	0.73442	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.58	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81627	-0.0847	9	0.59425	D	0.04	-15.1853	11.2533	0.49039	0.8626:0.0:0.0:0.1374	.	260	Q9Y366	IFT52_HUMAN	C	260	.	ENSP00000362121:Y260C	Y	+	2	0	IFT52	41685955	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.720000	0.91442	1.034000	0.39945	0.533000	0.62120	TAC	.	.		0.483	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004	
PCIF1	63935	hgsc.bcm.edu	37	20	44574501	44574501	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:44574501C>T	ENST00000372409.3	+	12	1684	c.1320C>T	c.(1318-1320)agC>agT	p.S440S	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	440					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCAAGGTCAGCCGCAACTACT	0.587																																					p.S440S		Atlas-SNP	.											.	PCIF1	51	.	0			c.C1320T						.						91.0	86.0	88.0					20																	44574501		2203	4300	6503	SO:0001819	synonymous_variant	63935	exon12			GGTCAGCCGCAAC	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1320C>T	chr20.hg19:g.44574501C>T		112.0	0.0		90.0	4.0	NM_022104	E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	hg19	CCDS13388.1																																																																																			.	.		0.587	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104	
NCOA3	8202	hgsc.bcm.edu	37	20	46271003	46271003	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:46271003A>G	ENST00000371998.3	+	17	3318	c.3127A>G	c.(3127-3129)Aac>Gac	p.N1043D	NCOA3_ENST00000372004.3_Missense_Mutation_p.N1043D|NCOA3_ENST00000341724.6_Missense_Mutation_p.N973D|NCOA3_ENST00000371997.3_Missense_Mutation_p.N1038D			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1043	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCACCTTCCAACCTGGAAGG	0.448																																					p.N1043D		Atlas-SNP	.											.	NCOA3	156	.	0			c.A3127G						.						155.0	145.0	148.0					20																	46271003		2203	4300	6503	SO:0001583	missense	8202	exon17			CCTTCCAACCTGG	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3127A>G	chr20.hg19:g.46271003A>G	ENSP00000361066:p.Asn1043Asp	72.0	0.0		40.0	4.0	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	hg19	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289902	0.80914	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02050	4.48;4.66;4.66;4.48	5.62	5.62	0.85841	.	0.130948	0.52532	D	0.000062	T	0.03608	0.0103	L	0.56769	1.78	0.37633	D	0.921752	B;P;B;B;B;B	0.47762	0.243;0.9;0.243;0.243;0.356;0.243	B;B;B;B;B;B	0.39258	0.09;0.295;0.09;0.09;0.185;0.09	T	0.59685	-0.7408	10	0.22109	T	0.4	-24.9681	16.1146	0.81295	1.0:0.0:0.0:0.0	.	1043;1038;1047;1043;1043;1043	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	D	1043;973;1043;1043;1038	ENSP00000342123:N973D;ENSP00000361073:N1043D;ENSP00000361066:N1043D;ENSP00000361065:N1038D	ENSP00000345671:N1043D	N	+	1	0	NCOA3	45704410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.910000	0.92685	2.260000	0.74910	0.528000	0.53228	AAC	.	.		0.448	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
RAE1	8480	hgsc.bcm.edu	37	20	55949682	55949682	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:55949682A>G	ENST00000395841.2	+	11	1265	c.845A>G	c.(844-846)cAt>cGt	p.H282R	RAE1_ENST00000395840.2_Missense_Mutation_p.H282R|RAE1_ENST00000527947.1_Missense_Mutation_p.H282R|RAE1_ENST00000371242.2_Missense_Mutation_p.H282R	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	282					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ATCGCGTTCCATCCTGTTCAT	0.493																																					p.H282R		Atlas-SNP	.											.	RAE1	54	.	0			c.A845G						.						205.0	195.0	199.0					20																	55949682		2203	4300	6503	SO:0001583	missense	8480	exon11			CGTTCCATCCTGT	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.845A>G	chr20.hg19:g.55949682A>G	ENSP00000379182:p.His282Arg	80.0	0.0		79.0	4.0	NM_003610	A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	hg19	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720938	0.89205	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.987;0.987	D	0.93028	0.6446	10	0.87932	D	0	-15.6787	16.3483	0.83171	1.0:0.0:0.0:0.0	.	282;282;282	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	R	282	ENSP00000379182:H282R;ENSP00000360286:H282R;ENSP00000432609:H282R;ENSP00000379181:H282R	ENSP00000360286:H282R	H	+	2	0	RAE1	55383089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.952000	0.93031	2.254000	0.74563	0.533000	0.62120	CAT	.	.		0.493	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2		
SLC2A4RG	56731	hgsc.bcm.edu	37	20	62373927	62373927	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr20:62373927G>A	ENST00000266077.2	+	6	971	c.919G>A	c.(919-921)Gtt>Att	p.V307I	RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA|SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTGAGCACCGTTGCTAACCC	0.721																																					p.V307I		Atlas-SNP	.											.	SLC2A4RG	20	.	0			c.G919A						.						6.0	8.0	7.0					20																	62373927		1855	3904	5759	SO:0001583	missense	56731	exon6			AGCACCGTTGCTA	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.919G>A	chr20.hg19:g.62373927G>A	ENSP00000266077:p.Val307Ile	40.0	0.0		39.0	6.0	NM_020062	Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	hg19	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	G	6.082	0.383377	0.11524	.	.	ENSG00000125520	ENST00000266077	T	0.44482	0.92	3.07	-3.4	0.04853	.	.	.	.	.	T	0.14830	0.0358	N	0.14661	0.345	0.09310	N	1	P	0.38863	0.65	B	0.26614	0.071	T	0.09907	-1.0653	9	0.39692	T	0.17	.	0.4685	0.00528	0.2102:0.2887:0.2089:0.2922	.	307	Q9NR83	S2A4R_HUMAN	I	307	ENSP00000266077:V307I	ENSP00000266077:V307I	V	+	1	0	SLC2A4RG	61844371	0.004000	0.15560	0.000000	0.03702	0.041000	0.13682	0.412000	0.21131	-1.174000	0.02754	0.313000	0.20887	GTT	.	.		0.721	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062	
NRIP1	8204	hgsc.bcm.edu	37	21	16339695	16339695	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr21:16339695T>C	ENST00000400202.1	-	3	1531	c.819A>G	c.(817-819)gaA>gaG	p.E273E	NRIP1_ENST00000400199.1_Silent_p.E273E|NRIP1_ENST00000318948.4_Silent_p.E273E			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	273	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GCAAATGGGCTTCGCTTGACA	0.453																																					p.E273E		Atlas-SNP	.											.	NRIP1	103	.	0			c.A819G						.						153.0	140.0	144.0					21																	16339695		2203	4300	6503	SO:0001819	synonymous_variant	8204	exon4			ATGGGCTTCGCTT	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.819A>G	chr21.hg19:g.16339695T>C		105.0	0.0		99.0	4.0	NM_003489	Q8IWE8	Silent	SNP	ENST00000400202.1	hg19	CCDS13568.1																																																																																			.	.		0.453	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
IL10RB	3588	hgsc.bcm.edu	37	21	34660496	34660496	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr21:34660496T>C	ENST00000290200.2	+	6	842	c.734T>C	c.(733-735)cTg>cCg	p.L245P		NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	245					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTCGCCTTGCTGTGGTGCGTT	0.552																																					p.L245P	Melanoma(67;315 1275 21667 21943 44564)	Atlas-SNP	.											.	IL10RB	37	.	0			c.T734C						.						201.0	149.0	167.0					21																	34660496		2203	4300	6503	SO:0001583	missense	3588	exon6			CCTTGCTGTGGTG	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.734T>C	chr21.hg19:g.34660496T>C	ENSP00000290200:p.Leu245Pro	99.0	0.0		93.0	4.0	NM_000628	Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	hg19	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716252	0.48622	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.46451	0.87	5.71	4.57	0.56435	.	0.908051	0.09343	N	0.815180	T	0.55353	0.1915	M	0.73598	2.24	0.38374	D	0.94495	D;D	0.57899	0.981;0.981	P;P	0.54174	0.744;0.643	T	0.48670	-0.9015	10	0.36615	T	0.2	-0.1263	8.4551	0.32895	0.0:0.088:0.0:0.912	.	247;245	Q6ZVU9;Q08334	.;I10R2_HUMAN	P	245	ENSP00000290200:L245P	ENSP00000290200:L245P	L	+	2	0	IL10RB	33582366	0.909000	0.30893	0.267000	0.24556	0.384000	0.30261	1.822000	0.39052	0.994000	0.38892	0.533000	0.62120	CTG	.	.		0.552	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3		
IFNGR2	3460	hgsc.bcm.edu	37	21	34805151	34805151	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr21:34805151A>G	ENST00000290219.6	+	6	1500	c.852A>G	c.(850-852)ccA>ccG	p.P284P	IFNGR2_ENST00000405436.1_Silent_p.P205P|IFNGR2_ENST00000381995.1_Silent_p.P303P	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	284					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTCACACTCCACCAAGCATCC	0.478																																					p.P284P		Atlas-SNP	.											.	IFNGR2	30	.	0			c.A852G						.						92.0	88.0	89.0					21																	34805151		2203	4300	6503	SO:0001819	synonymous_variant	3460	exon6			CACTCCACCAAGC		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.852A>G	chr21.hg19:g.34805151A>G		99.0	0.0		97.0	5.0	NM_005534	Q9BTL5	Silent	SNP	ENST00000290219.6	hg19	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	A	3.905	-0.021319	0.07634	.	.	ENSG00000159128	ENST00000421802	.	.	.	5.53	-8.93	0.00771	.	.	.	.	.	T	0.50000	0.1590	.	.	.	0.37879	D	0.930328	.	.	.	.	.	.	T	0.59129	-0.7512	4	.	.	.	-4.0195	10.986	0.47523	0.6734:0.1008:0.2257:0.0	.	.	.	.	R	50	.	.	H	+	2	0	IFNGR2	33727021	0.000000	0.05858	0.061000	0.19648	0.402000	0.30811	-2.876000	0.00717	-1.642000	0.01521	-0.371000	0.07208	CAC	.	.		0.478	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1		
SIM2	6493	hgsc.bcm.edu	37	21	38095410	38095410	+	Silent	SNP	C	C	A			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr21:38095410C>A	ENST00000290399.6	+	5	1135	c.522C>A	c.(520-522)ggC>ggA	p.G174G	SIM2_ENST00000430056.3_Silent_p.G174G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	174					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GGAACGCGGGCCTGACCTGCA	0.527																																					p.G174G		Atlas-SNP	.											.	SIM2	55	.	0			c.C522A						.						133.0	121.0	126.0					21																	38095410		2203	4300	6503	SO:0001819	synonymous_variant	6493	exon5			CGCGGGCCTGACC		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.522C>A	chr21.hg19:g.38095410C>A		80.0	0.0		58.0	14.0	NM_005069	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	hg19	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361190	0.24684	.	.	ENSG00000159263	ENST00000431229	.	.	.	5.24	3.21	0.36854	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53627	-0.8412	4	.	.	.	.	8.7021	0.34332	0.3174:0.5033:0.1793:0.0	.	.	.	.	T	112	.	.	P	+	1	0	SIM2	37017280	0.001000	0.12720	1.000000	0.80357	0.950000	0.60333	-0.375000	0.07475	2.445000	0.82738	0.655000	0.94253	CCT	.	.		0.527	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586	
CBS	875	hgsc.bcm.edu	37	21	44480560	44480560	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr21:44480560C>T	ENST00000398165.3	-	12	1395	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	CBS_ENST00000398158.1_Missense_Mutation_p.R379Q|CBS_ENST00000544202.1_Missense_Mutation_p.R291Q|CBS_ENST00000359624.3_Missense_Mutation_p.R379Q|CBS_ENST00000352178.5_Missense_Mutation_p.R379Q|CBS_ENST00000398168.1_Missense_Mutation_p.R379Q	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	379			R -> Q (in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure). {ECO:0000269|PubMed:12815602}.|R -> W (in CBSD). {ECO:0000269|PubMed:15365998}.		cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CATGTAGTTCCGCACTGAGTC	0.662																																					p.R379Q		Atlas-SNP	.											.	CBS	85	.	0			c.G1136A	GRCh37	CM031652	CBS	M		.						95.0	67.0	76.0					21																	44480560		2203	4300	6503	SO:0001583	missense	875	exon12			TAGTTCCGCACTG	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1136G>A	chr21.hg19:g.44480560C>T	ENSP00000381231:p.Arg379Gln	58.0	0.0		54.0	4.0	NM_000071	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	hg19	CCDS13693.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.005806|4.005806	0.74932|0.74932	.|.	.|.	ENSG00000160200|ENSG00000160200	ENST00000430013|ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	.|D;D;D;D;D;D	.|0.99207	.|-5.56;-5.56;-5.56;-5.56;-5.56;-5.56	4.9|4.9	4.01|4.01	0.46588|0.46588	.|Pyridoxal phosphate-dependent enzyme, beta subunit (1);	.|0.123875	.|0.53938	.|D	.|0.000051	D|D	0.99048|0.99048	0.9674|0.9674	M|M	0.84846|0.84846	2.72|2.72	0.58432|0.58432	D|D	0.999996|0.999996	.|P;D	.|0.63046	.|0.708;0.992	.|B;P	.|0.53649	.|0.238;0.731	D|D	0.98701|0.98701	1.0700|1.0700	5|10	.|0.72032	.|D	.|0.01	-33.6255|-33.6255	12.2822|12.2822	0.54771|0.54771	0.0:0.9166:0.0:0.0834|0.0:0.9166:0.0:0.0834	.|.	.|379;336	.|P35520;B7Z2D6	.|CBS_HUMAN;.	R|Q	33|379;379;379;379;379;336;291	.|ENSP00000381225:R379Q;ENSP00000381231:R379Q;ENSP00000352643:R379Q;ENSP00000344460:R379Q;ENSP00000381234:R379Q;ENSP00000439332:R291Q	.|ENSP00000344460:R379Q	G|R	-|-	1|2	0|0	CBS|CBS	43353629|43353629	1.000000|1.000000	0.71417|0.71417	0.541000|0.541000	0.28102|0.28102	0.718000|0.718000	0.41266|0.41266	5.609000|5.609000	0.67661|0.67661	2.262000|2.262000	0.75019|0.75019	0.591000|0.591000	0.81541|0.81541	GGA|CGG	.	.		0.662	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071	
PCNT	5116	hgsc.bcm.edu	37	21	47817283	47817283	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr21:47817283T>G	ENST00000359568.5	+	22	4428	c.4321T>G	c.(4321-4323)Tct>Gct	p.S1441A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1441					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GATTTTGGAGTCTGAGTTAGA	0.567																																					p.S1441A		Atlas-SNP	.											.	PCNT	283	.	0			c.T4321G						.						74.0	73.0	73.0					21																	47817283		2203	4300	6503	SO:0001583	missense	5116	exon22			TTGGAGTCTGAGT	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4321T>G	chr21.hg19:g.47817283T>G	ENSP00000352572:p.Ser1441Ala	95.0	0.0		78.0	4.0	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	T	1.323	-0.598815	0.03744	.	.	ENSG00000160299	ENST00000359568	T	0.56941	0.43	5.46	-3.1	0.05315	.	1.087950	0.07372	N	0.885968	T	0.16342	0.0393	N	0.02111	-0.68	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.08055	0.003;0.001	T	0.23511	-1.0186	10	0.06625	T	0.88	.	0.7064	0.00917	0.2208:0.2678:0.2895:0.2219	.	1323;1441	O95613-2;O95613	.;PCNT_HUMAN	A	1441	ENSP00000352572:S1441A	ENSP00000352572:S1441A	S	+	1	0	PCNT	46641711	0.009000	0.17119	0.011000	0.14972	0.001000	0.01503	-0.062000	0.11674	-0.172000	0.10779	-0.444000	0.05651	TCT	.	.		0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
EIF4ENIF1	56478	hgsc.bcm.edu	37	22	31846327	31846327	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr22:31846327A>G	ENST00000397525.1	-	11	1755	c.1532T>C	c.(1531-1533)tTg>tCg	p.L511S	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.L336S|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.L511S|EIF4ENIF1_ENST00000382180.2_Intron|EIF4ENIF1_ENST00000397523.1_Intron	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	511						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGGGACATCAAATGGCTTTC	0.423																																					p.L511S		Atlas-SNP	.											.	EIF4ENIF1	80	.	0			c.T1532C						.						132.0	133.0	132.0					22																	31846327		2203	4300	6503	SO:0001583	missense	56478	exon11			GACATCAAATGGC	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1532T>C	chr22.hg19:g.31846327A>G	ENSP00000380659:p.Leu511Ser	99.0	0.0		83.0	4.0	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	hg19	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943527	0.73672	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000418321	.	.	.	5.74	5.74	0.90152	.	0.312066	0.30076	N	0.010468	T	0.65291	0.2677	L	0.48642	1.525	0.80722	D	1	D;D;D	0.61697	0.99;0.959;0.974	P;P;P	0.62491	0.903;0.783;0.647	T	0.59511	-0.7441	9	0.13108	T	0.6	-7.4625	15.2313	0.73390	1.0:0.0:0.0:0.0	.	336;511;336	B1AKL3;Q9NRA8;Q9NRA8-2	.;4ET_HUMAN;.	S	336;511;511;109	.	ENSP00000328103:L511S	L	-	2	0	EIF4ENIF1	30176327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.156000	0.71840	2.197000	0.70478	0.528000	0.53228	TTG	.	.		0.423	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
KCTD17	79734	hgsc.bcm.edu	37	22	37453518	37453518	+	Silent	SNP	C	C	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr22:37453518C>T	ENST00000403888.3	+	4	493	c.492C>T	c.(490-492)ggC>ggT	p.G164G	RN7SKP214_ENST00000364208.1_RNA|KCTD17_ENST00000402077.3_Silent_p.G164G	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	164					protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						TGTCTGATGGCTGGCGCTTCG	0.652																																					p.G164G		Atlas-SNP	.											.	KCTD17	17	.	0			c.C492T						.						82.0	63.0	69.0					22																	37453518		2203	4300	6503	SO:0001819	synonymous_variant	79734	exon4			TGATGGCTGGCGC	BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 17"""			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.492C>T	chr22.hg19:g.37453518C>T		75.0	0.0		46.0	4.0	NM_024681	B0QYA9|B0QYB0|O95517	Silent	SNP	ENST00000403888.3	hg19		.	.	.	.	.	.	.	.	.	.	C	10.04	1.242295	0.22796	.	.	ENSG00000100379	ENST00000456470	.	.	.	4.46	2.28	0.28536	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49771	-0.8904	4	.	.	.	-0.2577	7.7435	0.28856	0.3389:0.5772:0.0:0.0839	.	.	.	.	V	119	.	.	A	+	2	0	KCTD17	35783464	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.135000	0.42112	0.837000	0.34925	0.407000	0.27541	GCT	.	.		0.652	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1	NM_024681	
KLHDC7B	113730	hgsc.bcm.edu	37	22	50987911	50987911	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr22:50987911T>C	ENST00000395676.2	+	1	1450	c.1316T>C	c.(1315-1317)tTc>tCc	p.F439S	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	439										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGCACCTTCCCTGTGGCC	0.657																																					p.F439S		Atlas-SNP	.											.	KLHDC7B	39	.	0			c.T1316C						.						69.0	72.0	71.0					22																	50987911		2200	4299	6499	SO:0001583	missense	113730	exon1			GCACCTTCCCTGT	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1316T>C	chr22.hg19:g.50987911T>C	ENSP00000379034:p.Phe439Ser	97.0	0.0		73.0	4.0	NM_138433		Missense_Mutation	SNP	ENST00000395676.2	hg19	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	T	23.7	4.446523	0.84101	.	.	ENSG00000130487	ENST00000395676	T	0.65178	-0.14	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.000000	0.43747	U	0.000535	T	0.77418	0.4127	M	0.80183	2.485	0.39199	D	0.963114	D	0.89917	1.0	D	0.83275	0.996	T	0.76849	-0.2807	10	0.17832	T	0.49	.	13.277	0.60191	0.0:0.0:0.0:1.0	.	439	Q96G42	KLD7B_HUMAN	S	439	ENSP00000379034:F439S	ENSP00000379034:F439S	F	+	2	0	KLHDC7B	49334777	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.330000	0.52068	2.044000	0.60594	0.402000	0.26972	TTC	.	.		0.657	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433	
TLR7	51284	hgsc.bcm.edu	37	X	12904278	12904278	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:12904278A>G	ENST00000380659.3	+	3	790	c.651A>G	c.(649-651)acA>acG	p.T217T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	217					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ACAATGTCACAGCCGTCCCTA	0.338																																					p.T217T		Atlas-SNP	.											.	TLR7	125	.	0			c.A651G						.						66.0	62.0	63.0					X																	12904278		2203	4300	6503	SO:0001819	synonymous_variant	51284	exon3			TGTCACAGCCGTC	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.651A>G	chrX.hg19:g.12904278A>G		134.0	0.0		97.0	4.0	NM_016562	D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	hg19	CCDS14151.1																																																																																			.	.		0.338	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
TLR7	51284	hgsc.bcm.edu	37	X	12905003	12905003	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:12905003T>C	ENST00000380659.3	+	3	1515	c.1376T>C	c.(1375-1377)gTc>gCc	p.V459A		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	459					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GAACCCCAGGTCCTGGAACAA	0.368																																					p.V459A		Atlas-SNP	.											.	TLR7	125	.	0			c.T1376C						.						75.0	80.0	78.0					X																	12905003		2199	4294	6493	SO:0001583	missense	51284	exon3			CCCAGGTCCTGGA	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1376T>C	chrX.hg19:g.12905003T>C	ENSP00000370034:p.Val459Ala	69.0	0.0		69.0	4.0	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	hg19	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	T	0.516	-0.864165	0.02590	.	.	ENSG00000196664	ENST00000380659	T	0.39406	1.08	5.51	4.34	0.51931	.	0.491077	0.19300	N	0.117675	T	0.36054	0.0953	L	0.52759	1.655	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.32052	-0.9921	10	0.56958	D	0.05	.	8.0509	0.30577	0.0:0.1593:0.0:0.8407	.	459	Q9NYK1	TLR7_HUMAN	A	459	ENSP00000370034:V459A	ENSP00000370034:V459A	V	+	2	0	TLR7	12814924	0.213000	0.23551	0.006000	0.13384	0.007000	0.05969	3.543000	0.53633	0.833000	0.34828	0.486000	0.48141	GTC	.	.		0.368	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
ZFX	7543	hgsc.bcm.edu	37	X	24197777	24197777	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:24197777A>T	ENST00000379177.1	+	6	963	c.536A>T	c.(535-537)gAa>gTa	p.E179V	ZFX_ENST00000379188.3_Missense_Mutation_p.E179V|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.E179V|ZFX_ENST00000540034.1_Missense_Mutation_p.E218V|ZFX_ENST00000338565.3_Missense_Mutation_p.E179V	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	179					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GTTTCAGAAGAAGTATTGGTA	0.463																																					p.E179V	Esophageal Squamous(20;306 562 7346 32868 37983)	Atlas-SNP	.											.	ZFX	61	.	0			c.A536T						.						191.0	165.0	174.0					X																	24197777		2203	4300	6503	SO:0001583	missense	7543	exon5			CAGAAGAAGTATT		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.536A>T	chrX.hg19:g.24197777A>T	ENSP00000368475:p.Glu179Val	129.0	0.0		89.0	7.0	NM_003410	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	hg19	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157264	0.78114	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.97	5.97	0.96955	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000001	T	0.72120	0.3421	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;1.0	D;D;D;D	0.80764	0.98;0.982;0.994;0.985	T	0.73490	-0.3966	9	.	.	.	-7.0613	15.388	0.74718	1.0:0.0:0.0:0.0	.	218;179;179;183	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	V	179;179;179;179;218;179	ENSP00000368486:E179V;ENSP00000368475:E179V;ENSP00000304985:E179V;ENSP00000441382:E218V;ENSP00000343384:E179V	.	E	+	2	0	ZFX	24107698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.402000	0.73260	2.018000	0.59344	0.486000	0.48141	GAA	.	.		0.463	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	
ZFX	7543	hgsc.bcm.edu	37	X	24197779	24197779	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:24197779G>T	ENST00000379177.1	+	6	965	c.538G>T	c.(538-540)Gta>Tta	p.V180L	ZFX_ENST00000379188.3_Missense_Mutation_p.V180L|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.V180L|ZFX_ENST00000540034.1_Missense_Mutation_p.V219L|ZFX_ENST00000338565.3_Missense_Mutation_p.V180L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	180					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTCAGAAGAAGTATTGGTAGC	0.458																																					p.V180L	Esophageal Squamous(20;306 562 7346 32868 37983)	Atlas-SNP	.											.	ZFX	61	.	0			c.G538T						.						191.0	166.0	174.0					X																	24197779		2203	4300	6503	SO:0001583	missense	7543	exon5			GAAGAAGTATTGG		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.538G>T	chrX.hg19:g.24197779G>T	ENSP00000368475:p.Val180Leu	130.0	0.0		88.0	6.0	NM_003410	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	hg19	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119223	0.77323	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.97	5.12	0.69794	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000012	T	0.68375	0.2994	L	0.61387	1.9	0.80722	D	1	P;D;D;D	0.56521	0.934;0.976;0.967;0.959	P;P;D;P	0.70716	0.677;0.793;0.97;0.734	T	0.68183	-0.5476	9	.	.	.	-9.7366	14.2222	0.65836	0.0728:0.0:0.9272:0.0	.	219;180;180;184	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	L	180;180;180;180;219;180	ENSP00000368486:V180L;ENSP00000368475:V180L;ENSP00000304985:V180L;ENSP00000441382:V219L;ENSP00000343384:V180L	.	V	+	1	0	ZFX	24107700	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	6.766000	0.74970	1.284000	0.44531	0.600000	0.82982	GTA	.	.		0.458	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	
IQSEC2	23096	hgsc.bcm.edu	37	X	53310699	53310699	+	Intron	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:53310699T>C	ENST00000375368.5	-	2	908				IQSEC2_ENST00000396435.3_Intron|IQSEC2_ENST00000375365.2_Missense_Mutation_p.E2G|IQSEC2_ENST00000462054.1_5'UTR			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2						actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCCGGGGGGCTCCATGGGTCT	0.697																																					p.E2G		Atlas-SNP	.											.	IQSEC2	195	.	0			c.A5G						.						7.0	7.0	7.0					X																	53310699		1842	3610	5452	SO:0001627	intron_variant	23096	exon1			GGGGGCTCCATGG	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.708-25456A>G	chrX.hg19:g.53310699T>C		211.0	0.0		113.0	6.0	NM_015075	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	hg19		.	.	.	.	.	.	.	.	.	.	t	18.77	3.695070	0.68386	.	.	ENSG00000124313	ENST00000375365	T	0.11712	2.75	4.79	4.79	0.61399	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.80722	D	1	B	0.30281	0.275	B	0.24848	0.056	T	0.08534	-1.0717	8	0.62326	D	0.03	.	9.7252	0.40328	0.0:0.0:0.0:1.0	.	2	Q5JU85-3	.	G	2	ENSP00000364514:E2G	ENSP00000364514:E2G	E	-	2	0	IQSEC2	53327424	0.989000	0.36119	0.899000	0.35326	0.705000	0.40729	1.948000	0.40303	1.899000	0.54978	0.483000	0.47432	GAG	.	.		0.697	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345	
AR	367	hgsc.bcm.edu	37	X	66765176	66765176	+	Missense_Mutation	SNP	A	A	T	rs62636527		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:66765176A>T	ENST00000374690.3	+	1	712	c.188A>T	c.(187-189)cAg>cTg	p.Q63L	AR_ENST00000396044.3_Missense_Mutation_p.Q63L|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q63L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	63	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.672									Androgen Insensitivity Syndrome																												p.Q63L		Atlas-SNP	.											.	AR	249	.	0			c.A188T						.						5.0	8.0	7.0					X																	66765176		1640	3236	4876	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	AGCAGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.188A>T	chrX.hg19:g.66765176A>T	ENSP00000363822:p.Gln63Leu	72.0	0.0		62.0	10.0	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.08	1.532203	0.27387	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.78246	-1.16;-1.16;-1.16	.	.	.	.	0.479323	0.15343	U	0.267412	T	0.62624	0.2443	N	0.19112	0.55	0.09310	N	0.999992	P;D;.	0.58268	0.755;0.982;.	B;P;.	0.48627	0.089;0.584;.	T	0.56408	-0.7984	8	0.17832	T	0.49	.	.	.	.	rs62636527	63;63;61	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	63	ENSP00000363822:Q63L;ENSP00000421155:Q63L;ENSP00000379359:Q63L	ENSP00000363822:Q63L	Q	+	2	0	AR	66681901	0.810000	0.29049	0.871000	0.34182	0.555000	0.35460	1.078000	0.30754	0.000000	0.14550	0.000000	0.15137	CAG	.	A|0.982;T|0.018		0.672	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
AR	367	hgsc.bcm.edu	37	X	66765179	66765179	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:66765179A>T	ENST00000374690.3	+	1	715	c.191A>T	c.(190-192)cAg>cTg	p.Q64L	AR_ENST00000396044.3_Missense_Mutation_p.Q64L|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q64L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	64	Gln-rich.|Modulating.|Poly-Gln.		Q -> R (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																												p.Q64L		Atlas-SNP	.											.	AR	249	.	0			c.A191T						.						4.0	8.0	7.0					X																	66765179		1590	3143	4733	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	AGCAGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.191A>T	chrX.hg19:g.66765179A>T	ENSP00000363822:p.Gln64Leu	69.0	0.0		69.0	14.0	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.28	1.591655	0.28357	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.67865	-0.29;-0.29;-0.29	.	.	.	.	1.847110	0.03494	N	0.217131	T	0.56124	0.1964	N	0.19112	0.55	0.09310	N	0.999991	P;D;.	0.58268	0.755;0.982;.	B;P;.	0.48627	0.089;0.584;.	T	0.50381	-0.8835	8	0.38643	T	0.18	.	.	.	.	.	64;64;62	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	64	ENSP00000363822:Q64L;ENSP00000421155:Q64L;ENSP00000379359:Q64L	ENSP00000363822:Q64L	Q	+	2	0	AR	66681904	0.024000	0.19004	0.883000	0.34634	0.574000	0.36063	-0.145000	0.10265	0.000000	0.14550	0.000000	0.15137	CAG	.	.		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
STARD8	9754	hgsc.bcm.edu	37	X	67936251	67936251	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:67936251A>G	ENST00000252336.6	+	4	407	c.35A>G	c.(34-36)gAg>gGg	p.E12G	STARD8_ENST00000374599.3_Missense_Mutation_p.E92G|STARD8_ENST00000374597.3_Missense_Mutation_p.E12G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	12					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATGAAACTGGAGGTTCATTTT	0.488																																					p.E92G		Atlas-SNP	.											.	STARD8	282	.	0			c.A275G						.						142.0	114.0	124.0					X																	67936251		2203	4300	6503	SO:0001583	missense	9754	exon5			AACTGGAGGTTCA	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.35A>G	chrX.hg19:g.67936251A>G	ENSP00000252336:p.Glu12Gly	117.0	0.0		94.0	4.0	NM_001142503	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	hg19	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	a	22.6	4.307817	0.81247	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.41758	2.52;0.99;2.52	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.47728	0.1461	M	0.82630	2.6	0.37676	D	0.923312	P;P	0.40534	0.72;0.455	B;B	0.41036	0.346;0.188	T	0.61476	-0.7055	10	0.87932	D	0	.	9.8886	0.41276	1.0:0.0:0.0:0.0	.	92;12	Q92502-2;Q92502	.;STAR8_HUMAN	G	12;92;12	ENSP00000252336:E12G;ENSP00000363727:E92G;ENSP00000363725:E12G	ENSP00000252336:E12G	E	+	2	0	STARD8	67852976	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.857000	0.75455	1.524000	0.49035	0.483000	0.47432	GAG	.	.		0.488	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
ABCB7	22	hgsc.bcm.edu	37	X	74295254	74295254	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:74295254A>G	ENST00000373394.3	-	6	805	c.798T>C	c.(796-798)gcT>gcC	p.A266A	ABCB7_ENST00000339447.4_Silent_p.A226A|ABCB7_ENST00000253577.3_Silent_p.A267A|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	266	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TAAATACCAAAGCACTCAGGA	0.388																																					p.A267A		Atlas-SNP	.											.	ABCB7	69	.	0			c.T801C						.						110.0	93.0	99.0					X																	74295254		2203	4300	6503	SO:0001819	synonymous_variant	22	exon6			TACCAAAGCACTC	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.798T>C	chrX.hg19:g.74295254A>G		157.0	0.0		137.0	6.0	NM_004299	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	hg19																																																																																				.	.		0.388	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
HMGN5	79366	hgsc.bcm.edu	37	X	80371833	80371833	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:80371833T>C	ENST00000358130.2	-	6	465	c.137A>G	c.(136-138)aAg>aGg	p.K46R	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	46					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						ACTTTTTGTCTTCATTTTCTG	0.318																																					p.K46R		Atlas-SNP	.											.	HMGN5	29	.	0			c.A137G						.						106.0	81.0	89.0					X																	80371833		2202	4298	6500	SO:0001583	missense	79366	exon6			TTTGTCTTCATTT	AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.137A>G	chrX.hg19:g.80371833T>C	ENSP00000350848:p.Lys46Arg	102.0	0.0		81.0	4.0	NM_030763	Q5JSL1	Missense_Mutation	SNP	ENST00000358130.2	hg19	CCDS14448.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.857822	0.32791	.	.	ENSG00000198157	ENST00000358130;ENST00000447319;ENST00000373250;ENST00000430960;ENST00000436386;ENST00000451455	.	.	.	4.64	3.43	0.39272	.	0.000000	0.34291	U	0.004091	T	0.63558	0.2521	M	0.73598	2.24	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.55147	-0.8186	9	0.87932	D	0	.	7.9301	0.29897	0.1855:0.0:0.0:0.8145	.	46	P82970	HMGN5_HUMAN	R	46;26;36;46;46;46	.	ENSP00000350848:K46R	K	-	2	0	HMGN5	80258489	1.000000	0.71417	0.109000	0.21407	0.014000	0.08584	2.414000	0.44627	0.672000	0.31204	0.441000	0.28932	AAG	.	.		0.318	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057354.1	NM_030763	
BHLHB9	80823	hgsc.bcm.edu	37	X	102004756	102004756	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:102004756T>C	ENST00000372735.1	+	4	1418	c.833T>C	c.(832-834)aTc>aCc	p.I278T	BHLHB9_ENST00000361229.4_Missense_Mutation_p.I278T|BHLHB9_ENST00000457056.1_Missense_Mutation_p.I278T|BHLHB9_ENST00000448867.1_Missense_Mutation_p.I278T|BHLHB9_ENST00000447531.1_Missense_Mutation_p.I278T			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	278					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCACAGCCTATCCCTGAGTGT	0.483																																					p.I278T		Atlas-SNP	.											.	BHLHB9	60	.	0			c.T833C						.						74.0	67.0	69.0					X																	102004756		2203	4300	6503	SO:0001583	missense	80823	exon2			AGCCTATCCCTGA	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.833T>C	chrX.hg19:g.102004756T>C	ENSP00000361820:p.Ile278Thr	122.0	0.0		87.0	4.0	NM_001142530	Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	hg19	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.731761	0.00687	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	4.47	2.02	0.26589	.	0.848237	0.10046	N	0.722893	T	0.08802	0.0218	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.40831	-0.9542	9	.	.	.	-2.8756	3.9496	0.09363	0.0:0.1123:0.2117:0.6759	.	278	Q6PI77	BHLH9_HUMAN	T	278	ENSP00000403226:I278T;ENSP00000354675:I278T;ENSP00000405893:I278T;ENSP00000391722:I278T;ENSP00000361820:I278T	.	I	+	2	0	BHLHB9	101891412	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.886000	0.28241	0.289000	0.22422	-0.360000	0.07572	ATC	.	.		0.483	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639	
RBM41	55285	hgsc.bcm.edu	37	X	106358785	106358785	+	Splice_Site	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:106358785T>C	ENST00000372479.3	-	4	350	c.320A>G	c.(319-321)aAg>aGg	p.K107R	RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000203616.8_Splice_Site_p.K107R|RBM41_ENST00000372487.1_Splice_Site_p.K107R	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	107							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CAGTTTTGTCTTCTGAAACCA	0.453																																					p.K107R		Atlas-SNP	.											.	RBM41	34	.	0			c.A320G						.						88.0	75.0	80.0					X																	106358785		2203	4299	6502	SO:0001630	splice_region_variant	55285	exon4			TTTGTCTTCTGAA	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.319-1A>G	chrX.hg19:g.106358785T>C		127.0	0.0		99.0	4.0	NM_001171080	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	hg19	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.907961	0.00508	.	.	ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000203616;ENST00000372482	T;T	0.22336	1.96;1.96	5.33	1.18	0.20946	.	0.774613	0.12942	N	0.426559	T	0.06917	0.0176	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40831	-0.9542	10	0.05525	T	0.97	.	7.1784	0.25757	0.0:0.5384:0.0:0.4616	.	107	Q96IZ5	RBM41_HUMAN	R	107	ENSP00000361565:K107R;ENSP00000361557:K107R	ENSP00000203616:K107R	K	-	2	0	RBM41	106245441	0.919000	0.31177	0.230000	0.23976	0.307000	0.27823	1.022000	0.30052	-0.220000	0.09988	0.381000	0.24937	AAG	.	.		0.453	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301	Missense_Mutation
GUCY2F	2986	hgsc.bcm.edu	37	X	108619161	108619161	+	Silent	SNP	T	T	C			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:108619161T>C	ENST00000218006.2	-	19	3585	c.3294A>G	c.(3292-3294)aaA>aaG	p.K1098K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1098					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCCTTTCTGCTTTTCTTCTTT	0.502																																					p.K1098K		Atlas-SNP	.											.	GUCY2F	178	.	0			c.A3294G						.						177.0	143.0	155.0					X																	108619161		2203	4300	6503	SO:0001819	synonymous_variant	2986	exon19			TTCTGCTTTTCTT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3294A>G	chrX.hg19:g.108619161T>C		155.0	0.0		113.0	5.0	NM_001522	Q9UJF1	Silent	SNP	ENST00000218006.2	hg19	CCDS14545.1																																																																																			.	.		0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
CAPN6	827	hgsc.bcm.edu	37	X	110490683	110490683	+	Silent	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:110490683A>G	ENST00000324068.1	-	12	1823	c.1656T>C	c.(1654-1656)tcT>tcC	p.S552S	CAPN6_ENST00000541758.1_Silent_p.S297S	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	552	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCTGGACAGGAGAACGGACTT	0.393																																					p.S552S		Atlas-SNP	.											.	CAPN6	120	.	0			c.T1656C						.						152.0	129.0	137.0					X																	110490683		2203	4300	6503	SO:0001819	synonymous_variant	827	exon12			GACAGGAGAACGG	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1656T>C	chrX.hg19:g.110490683A>G		148.0	0.0		113.0	5.0	NM_014289	D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	hg19	CCDS14555.1																																																																																			.	.		0.393	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
LDOC1	23641	hgsc.bcm.edu	37	X	140270987	140270987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:140270987delA	ENST00000370526.2	-	1	323	c.220delT	c.(220-222)tacfs	p.Y74fs	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	74					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					ACGAGCATGTAAGACGCCGTC	0.617																																					p.Y74fs		Atlas-Indel,Pindel	.											.	LDOC1	26	.	0			c.221delA						.						98.0	81.0	86.0					X																	140270987		2203	4300	6503	SO:0001589	frameshift_variant	23641	exon1			.	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.220delT	chrX.hg19:g.140270987delA	ENSP00000359557:p.Tyr74fs	95.0	0.0		75.0	28.0	NM_012317	Q6IAR6	Frame_Shift_Del	DEL	ENST00000370526.2	hg19	CCDS14672.1																																																																																			.	.		0.617	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317	
HCFC1	3054	hgsc.bcm.edu	37	X	153225829	153225829	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chrX:153225829A>G	ENST00000310441.7	-	7	1907	c.941T>C	c.(940-942)cTg>cCg	p.L314P	HCFC1_ENST00000369984.4_Missense_Mutation_p.L314P|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.L314P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	314					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTGTCCTCCAGTGTATCCAT	0.632																																					p.L314P		Atlas-SNP	.											.	HCFC1	284	.	0			c.T941C						.						28.0	30.0	29.0					X																	153225829		2102	4185	6287	SO:0001583	missense	3054	exon7			TCCTCCAGTGTAT		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.941T>C	chrX.hg19:g.153225829A>G	ENSP00000309555:p.Leu314Pro	177.0	0.0		124.0	5.0	NM_005334	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	hg19	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.693859	0.68386	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03242	4.0;4.0;4.07	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.09113	0.0225	L	0.31065	0.9	0.80722	D	1	D	0.58970	0.984	P	0.61533	0.89	T	0.12372	-1.0550	10	0.66056	D	0.02	.	13.3608	0.60654	1.0:0.0:0.0:0.0	.	314	P51610	HCFC1_HUMAN	P	314	ENSP00000309555:L314P;ENSP00000359001:L314P;ENSP00000346174:L314P	ENSP00000309555:L314P	L	-	2	0	HCFC1	152879023	1.000000	0.71417	0.985000	0.45067	0.968000	0.65278	3.618000	0.54188	1.796000	0.52611	0.486000	0.48141	CTG	.	.		0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
GNB1	2782	hgsc.bcm.edu	37	1	1720616	1720617	+	Frame_Shift_Ins	INS	-	-	T	rs201256388		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:1720616_1720617insT	ENST00000378609.4	-	10	1122_1123	c.791_792insA	c.(790-792)tacfs	p.Y264fs		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	264					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		TGTCATGGGAGTAAGTCATGAG	0.55											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y264_S265delinsX		Atlas-Indel,Pindel	.											.	GNB1	39	.	0			c.792_793insA						.																																			SO:0001589	frameshift_variant	2782	exon10			.	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.792dupA	chr1.hg19:g.1720617_1720617dupT	ENSP00000367872:p.Tyr264fs	196.0	0.0	598	151.0	61.0	NM_002074	B1AJZ7|P04697|P04901|Q1RMY8	Frame_Shift_Ins	INS	ENST00000378609.4	hg19	CCDS34.1																																																																																			.	.		0.550	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074	
ALB	213	hgsc.bcm.edu	37	4	74283258	74283259	+	Frame_Shift_Del	DEL	CG	CG	-	rs78575701		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr4:74283258_74283259delCG	ENST00000503124.1	+	9	1057_1058	c.850_851delCG	c.(850-852)cgtfs	p.R284fs	ALB_ENST00000295897.4_Frame_Shift_Del_p.R434fs|ALB_ENST00000415165.2_Frame_Shift_Del_p.R242fs|ALB_ENST00000505649.1_Intron|ALB_ENST00000509063.1_Frame_Shift_Del_p.R434fs|ALB_ENST00000401494.3_Frame_Shift_Del_p.R319fs			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)			GCTATTAGTTCGTTACACCAAG	0.401																																					p.433_434del		Atlas-Indel,Pindel	.											.	ALB	132	.	0			c.1299_1300del	GRCh37	CM984718	ALB	M	rs78575701	.																																			SO:0001589	frameshift_variant	213	exon11			.	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	ENST00000503124.1:c.850_851delCG	chr4.hg19:g.74283258_74283259delCG	ENSP00000421027:p.Arg284fs	105.0	0.0		97.0	15.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Del	DEL	ENST00000503124.1	hg19																																																																																				.	.		0.401	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
FTCD	10841	hgsc.bcm.edu	37	21	47575400	47575401	+	In_Frame_Ins	INS	-	-	CCATAA			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr21:47575400_47575401insCCATAA	ENST00000291670.5	-	1	80_81	c.37_38insTTATGG	c.(37-39)gag>gTTATGGag	p.12_13insVM	FTCD_ENST00000359679.2_In_Frame_Ins_p.12_13insVM|FTCD_ENST00000498355.2_De_novo_Start_OutOfFrame|FTCD_ENST00000397746.3_In_Frame_Ins_p.12_13insVM|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397748.1_In_Frame_Ins_p.12_13insVM|FTCD_ENST00000355384.2_In_Frame_Ins_p.12_13insVM|FTCD_ENST00000397743.1_In_Frame_Ins_p.12_13insVM	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	12	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GTTCTTCCCCTCCGAAAAGTTG	0.619																																					p.E13delinsVME		Atlas-Indel,Pindel	.											.	FTCD	59	.	0			c.38_39insTTATGG						.																																			SO:0001652	inframe_insertion	10841	exon1			.	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.37_38insTTATGG	chr21.hg19:g.47575400_47575401insCCATAA	ENSP00000291670:p.Ser12_Glu13insValMet	100.0	0.0		82.0	11.0	NM_206965	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	In_Frame_Ins	INS	ENST00000291670.5	hg19	CCDS13731.1																																																																																			.	.		0.619	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657	
SLC16A4	9122	hgsc.bcm.edu	37	1	110919677	110919678	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:110919677_110919678insCT	ENST00000369779.4	-	7	1385_1386	c.1136_1137insAG	c.(1135-1137)actfs	p.T379fs	SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T317fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T211fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T331fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.T269fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	379					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CAAGCAGGTTAGTGATGCCGCA	0.455																																					p.T379fs		Atlas-INDEL	.											.	SLC16A4	47	.	0			c.1137_1138insAG						.																																			SO:0001589	frameshift_variant	9122	exon7			.	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1136_1137insAG	chr1.hg19:g.110919677_110919678insCT	ENSP00000358794:p.Thr379fs	145.0	0.0		98.0	32.0	NM_004696	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Frame_Shift_Ins	INS	ENST00000369779.4	hg19	CCDS823.1																																																																																			.	.		0.455	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696	
SLC16A4	9122	hgsc.bcm.edu	37	1	110919678	110919679	+	Frame_Shift_Ins	INS	-	-	A	rs147693872		TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:110919678_110919679insA	ENST00000369779.4	-	7	1384_1385	c.1135_1136insT	c.(1135-1137)actfs	p.T379fs	SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T317fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T211fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T331fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.T269fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	379					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AAGCAGGTTAGTGATGCCGCAG	0.455																																					p.T379fs		Atlas-INDEL	.											.	SLC16A4	47	.	0			c.1136_1137insT						.																																			SO:0001589	frameshift_variant	9122	exon7			.	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1135_1136insT	chr1.hg19:g.110919678_110919679insA	ENSP00000358794:p.Thr379fs	147.0	0.0		98.0	32.0	NM_004696	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Frame_Shift_Ins	INS	ENST00000369779.4	hg19	CCDS823.1																																																																																			.	.		0.455	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696	
SLC16A4	9122	hgsc.bcm.edu	37	1	110919681	110919682	+	In_Frame_Ins	INS	-	-	TGA			TCGA-DD-A39X-01A-11D-A20W-10	TCGA-DD-A39X-11A-11D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d48a532-df89-439c-8c4f-4b284cfdbb79	c27b95f8-bb8d-429a-b193-81f1caf006ee	g.chr1:110919681_110919682insTGA	ENST00000369779.4	-	7	1381_1382	c.1132_1133insTCA	c.(1132-1134)atc>aTCAtc	p.378_378I>II	SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000541986.1_In_Frame_Ins_p.316_316I>II|SLC16A4_ENST00000369781.4_In_Frame_Ins_p.210_210I>II|SLC16A4_ENST00000472422.2_In_Frame_Ins_p.330_330I>II|SLC16A4_ENST00000437429.2_In_Frame_Ins_p.268_268I>II	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	378					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CAGGTTAGTGATGCCGCAGAGG	0.446																																					p.I378delinsII		Pindel	.											.	SLC16A4	47	.	0			c.1133_1134insTCA						.																																			SO:0001652	inframe_insertion	9122	exon7			.	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1130_1132dupTCA	chr1.hg19:g.110919679_110919681dupTGA	ENSP00000358794:p.Ile378dup	0.0	0.0		96.0	29.0	NM_004696	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	In_Frame_Ins	INS	ENST00000369779.4	hg19	CCDS823.1																																																																																			.	.		0.446	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696	
