#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
MTOR	2475	hgsc.bcm.edu	37	1	11316988	11316988	+	Splice_Site	SNP	A	A	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr1:11316988A>T	ENST00000361445.4	-	4	581		c.e4+1			NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)						cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GTAGACACTCACAGCTGCATG	0.557																																					.		Atlas-SNP	.											.	MTOR	327	.	0			c.504+2T>A						.						37.0	32.0	34.0					1																	11316988		2203	4300	6503	SO:0001630	splice_region_variant	2475	exon5			ACACTCACAGCTG	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.504+1T>A	chr1.hg19:g.11316988A>T		79.0	0.0		28.0	19.0	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Splice_Site	SNP	ENST00000361445.4	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563445	0.86335	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5192	0.75851	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTOR	11239575	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.888000	0.92464	2.068000	0.61886	0.451000	0.29950	.	.	.		0.557	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	Intron
RNF220	55182	hgsc.bcm.edu	37	1	45111114	45111114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr1:45111114A>T	ENST00000355387.2	+	12	1849	c.1399A>T	c.(1399-1401)Aag>Tag	p.K467*	RNF220_ENST00000443020.2_Nonsense_Mutation_p.K254*|RNF220_ENST00000372247.2_Nonsense_Mutation_p.K467*|TMEM53_ENST00000372244.3_Silent_p.L28L|TMEM53_ENST00000372242.3_Nonsense_Mutation_p.L159*|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000361799.2_Nonsense_Mutation_p.K467*|TMEM53_ENST00000372243.3_Nonsense_Mutation_p.L69*			Q5VTB9	RN220_HUMAN	ring finger protein 220	467					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGAAAGCAGCAAGCAGGAGGC	0.592																																					p.K467X		Atlas-SNP	.											.	RNF220	56	.	0			c.A1399T						.						108.0	91.0	96.0					1																	45111114		2203	4300	6503	SO:0001587	stop_gained	55182	exon12			AGCAGCAAGCAGG	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1399A>T	chr1.hg19:g.45111114A>T	ENSP00000347548:p.Lys467*	148.0	0.0		29.0	14.0	NM_018150	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Nonsense_Mutation	SNP	ENST00000355387.2	hg19	CCDS510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	39|39	7.302589|7.302589	0.98196|0.98196	.|.	.|.	ENSG00000187147|ENSG00000126106	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020;ENST00000440132;ENST00000335497;ENST00000372248|ENST00000372243;ENST00000372242	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|0.02654	D|T	0|1	.|.	16.0229|16.0229	0.80512|0.80512	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|X	467;467;467;467;254;183;209;210|69;159	.|.	ENSP00000335580:K209X|ENSP00000361316:L159X	K|L	+|-	1|2	0|0	RNF220|TMEM53	44883701|44883701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.527000|8.527000	0.90594|0.90594	2.189000|2.189000	0.69895|0.69895	0.459000|0.459000	0.35465|0.35465	AAG|TTG	.	.		0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150	
DOCK7	85440	hgsc.bcm.edu	37	1	62971484	62971484	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr1:62971484C>T	ENST00000340370.5	-	35	4404	c.4387G>A	c.(4387-4389)Gtt>Att	p.V1463I	DOCK7_ENST00000251157.5_Missense_Mutation_p.V1485I	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1494					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTTACAGAAACGGTCTGCAAT	0.383																																					p.V1485I		Atlas-SNP	.											.	DOCK7	184	.	0			c.G4453A						.						90.0	74.0	80.0					1																	62971484		2203	4300	6503	SO:0001583	missense	85440	exon36			CAGAAACGGTCTG		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4387G>A	chr1.hg19:g.62971484C>T	ENSP00000340742:p.Val1463Ile	69.0	0.0		20.0	6.0	NM_001271999	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	hg19	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.420760|4.420760	0.83559|0.83559	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.52057	.|0.68;0.68	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68284|0.68284	0.2984|0.2984	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.999;0.999;1.0;0.994;0.988	.|D;P;D;D;P;P	.|0.83275	.|0.993;0.847;0.996;0.996;0.819;0.859	T|T	0.66874|0.66874	-0.5813|-0.5813	5|10	.|0.34782	.|T	.|0.22	.|.	18.4148|18.4148	0.90565|0.90565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1494;1485;1463;1454;1454;1485	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	H|I	656|1494;1485;1463;224	.|ENSP00000251157:V1485I;ENSP00000340742:V1463I	.|ENSP00000251157:V1485I	R|V	-|-	2|1	0|0	DOCK7|DOCK7	62744072|62744072	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.510000|0.510000	0.34073|0.34073	7.818000|7.818000	0.86416|0.86416	2.339000|2.339000	0.79563|0.79563	0.591000|0.591000	0.81541|0.81541	CGT|GTT	.	.		0.383	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DNAJB4	11080	hgsc.bcm.edu	37	1	78481825	78481825	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr1:78481825A>G	ENST00000370763.5	+	3	1165	c.908A>G	c.(907-909)aAt>aGt	p.N303S	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	303					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTCCAAAAAATCCTGACCAA	0.403																																					p.N303S		Atlas-SNP	.											.	DNAJB4	30	.	0			c.A908G						.						120.0	120.0	120.0					1																	78481825		2203	4300	6503	SO:0001583	missense	11080	exon3			CAAAAAATCCTGA	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.908A>G	chr1.hg19:g.78481825A>G	ENSP00000359799:p.Asn303Ser	94.0	0.0		42.0	12.0	NM_007034	B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	hg19	CCDS684.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387982	0.25118	.	.	ENSG00000162616	ENST00000370763	T	0.43688	0.94	5.96	5.96	0.96718	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	N	0.16790	0.44	0.80722	D	1	B	0.12013	0.005	B	0.17098	0.017	T	0.05582	-1.0876	10	0.28530	T	0.3	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	303	Q9UDY4	DNJB4_HUMAN	S	303	ENSP00000359799:N303S	ENSP00000359799:N303S	N	+	2	0	DNAJB4	78254413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.833000	0.48159	2.285000	0.76669	0.533000	0.62120	AAT	.	.		0.403	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3		
CD5L	922	hgsc.bcm.edu	37	1	157805798	157805798	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr1:157805798C>A	ENST00000368174.4	-	3	299	c.203G>T	c.(202-204)gGa>gTa	p.G68V	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	68	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTGGCAGCTCCACAGCCCAG	0.562																																					p.G68V		Atlas-SNP	.											.	CD5L	112	.	0			c.G203T						.						151.0	155.0	154.0					1																	157805798		2203	4300	6503	SO:0001583	missense	922	exon3			GCAGCTCCACAGC	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.203G>T	chr1.hg19:g.157805798C>A	ENSP00000357156:p.Gly68Val	244.0	1.0		82.0	49.0	NM_005894	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	hg19	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715138	0.68844	.	.	ENSG00000073754	ENST00000368174	T	0.38887	1.11	4.85	4.85	0.62838	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.312596	0.23017	N	0.052895	T	0.62829	0.2460	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69079	-0.5240	10	0.87932	D	0	.	15.5102	0.75776	0.0:1.0:0.0:0.0	.	68	O43866	CD5L_HUMAN	V	68	ENSP00000357156:G68V	ENSP00000357156:G68V	G	-	2	0	CD5L	156072422	1.000000	0.71417	0.732000	0.30844	0.323000	0.28346	5.528000	0.67129	2.503000	0.84419	0.563000	0.77884	GGA	.	.		0.562	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
AXDND1	126859	hgsc.bcm.edu	37	1	179339142	179339142	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr1:179339142G>T	ENST00000367618.3	+	4	690	c.303G>T	c.(301-303)tgG>tgT	p.W101C	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.W101C	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	101										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						ACCATGTCTGGCATCACCCTG	0.433																																					p.W101C		Atlas-SNP	.											.	AXDND1	142	.	0			c.G303T						.						81.0	73.0	76.0					1																	179339142		2203	4300	6503	SO:0001583	missense	126859	exon4			TGTCTGGCATCAC	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.303G>T	chr1.hg19:g.179339142G>T	ENSP00000356590:p.Trp101Cys	129.0	0.0		69.0	50.0	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	hg19	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643924	0.67244	.	.	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000507383;ENST00000457238;ENST00000508285;ENST00000511889;ENST00000434088	T;T;T	0.79352	-0.39;-1.26;-0.02	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	M	0.65498	2.005	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87667	0.2538	10	0.87932	D	0	-16.8437	14.4325	0.67259	0.0:0.0:1.0:0.0	.	59;101	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	C	59;101;59;59;101;101;59;35	ENSP00000356590:W101C;ENSP00000416712:W101C;ENSP00000391716:W35C	ENSP00000353471:W59C	W	+	3	0	AXDND1	177605765	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.636000	0.67848	2.464000	0.83262	0.579000	0.79373	TGG	.	.		0.433	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
KIDINS220	57498	hgsc.bcm.edu	37	2	8934018	8934018	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr2:8934018G>A	ENST00000256707.3	-	12	1379	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	KIDINS220_ENST00000427284.1_Missense_Mutation_p.P400S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P358S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P400S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.P401S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	400					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCTTTGTTGGGCCTATAAAGT	0.413																																					p.P400S		Atlas-SNP	.											.	KIDINS220	136	.	0			c.C1198T						.						87.0	80.0	82.0					2																	8934018		1817	4078	5895	SO:0001583	missense	57498	exon12			TGTTGGGCCTATA	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1198C>T	chr2.hg19:g.8934018G>A	ENSP00000256707:p.Pro400Ser	62.0	0.0		24.0	12.0	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	hg19	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	g	18.56	3.650018	0.67472	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.52983	0.64;2.48;2.48;2.48;2.48;2.48;2.48	5.83	5.83	0.93111	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	L	0.35854	1.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;1.0	D;P;D;D	0.91635	0.996;0.829;0.999;0.999	T	0.59716	-0.7402	10	0.48119	T	0.1	.	20.1862	0.98216	0.0:0.0:1.0:0.0	.	401;401;358;400	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	S	147;84;400;400;358;400;401;401	ENSP00000420364:P147S;ENSP00000256707:P400S;ENSP00000411849:P400S;ENSP00000414923:P358S;ENSP00000418974:P400S;ENSP00000419964:P401S;ENSP00000319947:P401S	ENSP00000256707:P400S	P	-	1	0	KIDINS220	8851469	1.000000	0.71417	0.999000	0.59377	0.211000	0.24417	9.390000	0.97246	2.775000	0.95449	0.632000	0.83419	CCC	.	.		0.413	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
BIRC6	57448	hgsc.bcm.edu	37	2	32724674	32724675	+	Silent	DNP	TC	TC	AT			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr2:32724674_32724675TC>AT	ENST00000421745.2	+	46	8663_8664	c.8529_8530TC>AT	c.(8527-8532)acTCtg>acATtg	p.2843_2844TL>TL		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2843					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGAATTCACTCTGGAGCAGAA	0.446																																					p.T2843T|p.L2844L	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											.|BIRC6_ENST00000421745,NS,carcinoma,0,2	BIRC6	838	.	0			c.T8529A|c.C8530T						.																																			SO:0001819	synonymous_variant	57448	exon46			ATTCACTCTGGAG|TTCACTCTGGAGC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	Exception_encountered	chr2.hg19:g.32724674_32724675delinsAT		87.0	0.0		26.0|25.0	9.0|8.0	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	hg19	CCDS33175.2																																																																																			.	.		0.446	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
KCNK12	56660	hgsc.bcm.edu	37	2	47748598	47748598	+	Silent	SNP	G	G	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr2:47748598G>C	ENST00000327876.4	-	2	1348	c.741C>G	c.(739-741)ctC>ctG	p.L247L	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	247						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(2)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAGAAGTAGAGCGAGTCCA	0.652																																					p.L247L		Atlas-SNP	.											.	KCNK12	11	.	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	c.C741G						.						47.0	46.0	46.0					2																	47748598		2203	4299	6502	SO:0001819	synonymous_variant	56660	exon2			GAAGTAGAGCGAG	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.741C>G	chr2.hg19:g.47748598G>C		110.0	0.0		31.0	11.0	NM_022055		Silent	SNP	ENST00000327876.4	hg19	CCDS1835.1																																																																																			.	.		0.652	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055	
LRP2	4036	hgsc.bcm.edu	37	2	170147487	170147487	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr2:170147487G>A	ENST00000263816.3	-	8	1075	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	LRP2_ENST00000443831.1_Missense_Mutation_p.H264Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	264	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GAACATTTATGAACATCATGA	0.458																																					p.H264Y		Atlas-SNP	.											.	LRP2	751	.	0			c.C790T						.						111.0	109.0	109.0					2																	170147487		2203	4300	6503	SO:0001583	missense	4036	exon8			ATTTATGAACATC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.790C>T	chr2.hg19:g.170147487G>A	ENSP00000263816:p.His264Tyr	186.0	0.0		51.0	14.0	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.639858	0.00799	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	T;T	0.58506	0.33;0.33	4.1	0.0961	0.14488	.	0.421230	0.24072	N	0.041806	T	0.44052	0.1275	L	0.54323	1.7	0.09310	N	1	B;B	0.23316	0.083;0.044	B;B	0.30495	0.116;0.112	T	0.26744	-1.0094	9	.	.	.	.	0.8316	0.01132	0.2232:0.1846:0.4028:0.1894	.	264;264	E9PC35;P98164	.;LRP2_HUMAN	Y	264	ENSP00000263816:H264Y;ENSP00000409813:H264Y	.	H	-	1	0	LRP2	169855733	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.195000	0.32186	0.006000	0.14734	-0.941000	0.02677	CAT	.	.		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
SPHKAP	80309	hgsc.bcm.edu	37	2	228883534	228883534	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr2:228883534G>A	ENST00000392056.3	-	7	2082	c.2036C>T	c.(2035-2037)tCc>tTc	p.S679F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S679F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	679						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCATCAATGGAATGCCTCAG	0.413																																					p.S679F		Atlas-SNP	.											.	SPHKAP	750	.	0			c.C2036T						.						257.0	235.0	242.0					2																	228883534		2203	4300	6503	SO:0001583	missense	80309	exon7			TCAATGGAATGCC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2036C>T	chr2.hg19:g.228883534G>A	ENSP00000375909:p.Ser679Phe	194.0	0.0		63.0	22.0	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591492	0.46214	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.53640	0.61;0.61	5.62	3.77	0.43336	.	0.211818	0.49916	D	0.000127	T	0.66268	0.2772	M	0.68593	2.085	0.49130	D	0.999751	D;D	0.89917	0.994;1.0	P;D	0.74023	0.819;0.982	T	0.70414	-0.4878	10	0.87932	D	0	.	15.5583	0.76216	0.0:0.2613:0.7387:0.0	.	679;679	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	F	679	ENSP00000375909:S679F;ENSP00000339886:S679F	ENSP00000339886:S679F	S	-	2	0	SPHKAP	228591778	1.000000	0.71417	0.993000	0.49108	0.407000	0.30961	2.855000	0.48333	0.788000	0.33755	0.655000	0.94253	TCC	.	.		0.413	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
TRIP12	9320	hgsc.bcm.edu	37	2	230723949	230723949	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr2:230723949T>A	ENST00000283943.5	-	3	618	c.440A>T	c.(439-441)cAg>cTg	p.Q147L	TRIP12_ENST00000409677.1_Missense_Mutation_p.Q189L|TRIP12_ENST00000543084.1_Missense_Mutation_p.Q189L|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q189L|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	147					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTCTTTTCTGACTCCGTGA	0.488																																					p.Q147L		Atlas-SNP	.											.	TRIP12	207	.	0			c.A440T						.						111.0	114.0	113.0					2																	230723949		2203	4300	6503	SO:0001583	missense	9320	exon3			CTTTTCTGACTCC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.440A>T	chr2.hg19:g.230723949T>A	ENSP00000283943:p.Gln147Leu	101.0	0.0		50.0	21.0	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	hg19	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511511	0.64522	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485;ENST00000435716;ENST00000428959;ENST00000430954	T;T	0.50001	0.76;0.76	5.71	4.54	0.55810	.	0.055337	0.85682	N	0.000000	T	0.31040	0.0784	N	0.19112	0.55	0.58432	D	0.999991	B;B;B	0.19817	0.0;0.039;0.0	B;B;B	0.18871	0.0;0.023;0.0	T	0.08310	-1.0728	10	0.48119	T	0.1	.	8.1668	0.31230	0.1338:0.0:0.1402:0.726	.	147;189;147	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	L	147;189;189;189;17;147;147;189	ENSP00000283943:Q147L;ENSP00000373696:Q189L	ENSP00000283943:Q147L	Q	-	2	0	TRIP12	230432193	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.628000	0.54259	0.969000	0.38237	0.455000	0.32223	CAG	.	.		0.488	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266098	41266098	+	Missense_Mutation	SNP	A	A	G	rs121913396|rs121913416		TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr3:41266098A>G	ENST00000349496.5	+	3	375	c.95A>G	c.(94-96)gAc>gGc	p.D32G	CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32G|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.D32G	Colon(6;3 56 14213 18255)	Atlas-SNP	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,gallbladder,other,+1,128	CTNNB1	4904	.	260	Deletion - In frame(120)|Substitution - Missense(114)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(154)|large_intestine(24)|pancreas(19)|central_nervous_system(16)|stomach(14)|endometrium(7)|skin(7)|ovary(4)|prostate(3)|pituitary(3)|small_intestine(2)|NS(2)|adrenal_gland(1)|soft_tissue(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	c.A95G						.						92.0	77.0	82.0					3																	41266098		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ACCTGGACTCTGG	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.95A>G	chr3.hg19:g.41266098A>G	ENSP00000344456:p.Asp32Gly	347.0	2.0		117.0	18.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308122	0.81247	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74137	-0.3762	10	0.87932	D	0	0.3843	16.0676	0.80897	1.0:0.0:0.0:0.0	.	32	P35222	CTNB1_HUMAN	G	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25G;ENSP00000385604:D32G;ENSP00000412219:D32G;ENSP00000379486:D32G;ENSP00000344456:D32G;ENSP00000411226:D25G;ENSP00000379488:D32G;ENSP00000409302:D32G;ENSP00000401599:D32G	ENSP00000344456:D32G	D	+	2	0	CTNNB1	41241102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAC	.	.		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
DNAH1	25981	hgsc.bcm.edu	37	3	52428551	52428551	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr3:52428551T>C	ENST00000420323.2	+	67	10958	c.10697T>C	c.(10696-10698)cTg>cCg	p.L3566P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3631					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)		CCGGACTGGCTGTCAGACCGG	0.592																																					p.L3566P		Atlas-SNP	.											.	DNAH1	534	.	0			c.T10697C						.						79.0	89.0	85.0					3																	52428551		2059	4197	6256	SO:0001583	missense	25981	exon67			ACTGGCTGTCAGA	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.10697T>C	chr3.hg19:g.52428551T>C	ENSP00000401514:p.Leu3566Pro	228.0	0.0		86.0	28.0	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586845	0.86851	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.11821	2.74	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000064	T	0.54598	0.1868	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.73487	-0.3967	10	0.87932	D	0	.	15.2198	0.73303	0.0:0.0:0.0:1.0	.	3566;3631	C9JXH6;Q9P2D7-2	.;.	P	3566;319	ENSP00000401514:L3566P	ENSP00000273600:L319P	L	+	2	0	DNAH1	52403591	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.170000	0.77587	2.005000	0.58758	0.533000	0.62120	CTG	.	.		0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
EPHB3	2049	hgsc.bcm.edu	37	3	184290761	184290761	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr3:184290761G>T	ENST00000330394.2	+	3	1105	c.653G>T	c.(652-654)gGc>gTc	p.G218V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	218	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACCACCGCAGGCTTCGCACTC	0.642																																					p.G218V		Atlas-SNP	.											.	EPHB3	114	.	0			c.G653T						.						56.0	59.0	58.0					3																	184290761		2203	4300	6503	SO:0001583	missense	2049	exon3			CCGCAGGCTTCGC	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.653G>T	chr3.hg19:g.184290761G>T	ENSP00000332118:p.Gly218Val	93.0	0.0		34.0	16.0	NM_004443	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	hg19	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951178	0.73787	.	.	ENSG00000182580	ENST00000330394	T	0.73152	-0.72	5.27	5.27	0.74061	.	0.110493	0.64402	D	0.000009	T	0.73225	0.3560	L	0.52905	1.665	0.80722	D	1	P	0.48089	0.905	P	0.46796	0.527	T	0.77507	-0.2562	10	0.87932	D	0	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	218	P54753	EPHB3_HUMAN	V	218	ENSP00000332118:G218V	ENSP00000332118:G218V	G	+	2	0	EPHB3	185773455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.290000	0.78711	2.445000	0.82738	0.561000	0.74099	GGC	.	.		0.642	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
BCL6	604	hgsc.bcm.edu	37	3	187447378	187447378	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr3:187447378T>A	ENST00000406870.2	-	5	1181	c.815A>T	c.(814-816)gAt>gTt	p.D272V	BCL6_ENST00000450123.2_Missense_Mutation_p.D272V|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.D272V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	272					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTAGTGCATATCACTTCGTGC	0.547			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																p.D272V		Atlas-SNP	.		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	.	BCL6	107	.	0			c.A815T						.						83.0	87.0	86.0					3																	187447378		2203	4300	6503	SO:0001583	missense	604	exon4			TGCATATCACTTC		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.815A>T	chr3.hg19:g.187447378T>A	ENSP00000384371:p.Asp272Val	121.0	0.0		37.0	10.0	NM_001134738	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	hg19	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093098	0.56075	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08720	3.06;3.06;3.08	5.46	5.46	0.80206	.	0.132239	0.64402	D	0.000002	T	0.09992	0.0245	L	0.40543	1.245	0.80722	D	1	P;P	0.48911	0.917;0.808	B;B	0.41860	0.368;0.368	T	0.03413	-1.1039	10	0.56958	D	0.05	.	15.0324	0.71717	0.0:0.0:0.0:1.0	.	272;272	B8PSA7;P41182	.;BCL6_HUMAN	V	272	ENSP00000384371:D272V;ENSP00000232014:D272V;ENSP00000413122:D272V	ENSP00000232014:D272V	D	-	2	0	BCL6	188930072	1.000000	0.71417	0.980000	0.43619	0.942000	0.58702	5.412000	0.66392	2.203000	0.70933	0.459000	0.35465	GAT	.	.		0.547	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
BCL6	604	hgsc.bcm.edu	37	3	187447392	187447392	+	Silent	SNP	T	T	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr3:187447392T>C	ENST00000406870.2	-	5	1167	c.801A>G	c.(799-801)gaA>gaG	p.E267E	BCL6_ENST00000450123.2_Silent_p.E267E|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.E267E	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	267					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCGTGCCTCTTCTGGGATTG	0.572			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																p.E267E		Atlas-SNP	.		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	.	BCL6	107	.	0			c.A801G						.						77.0	80.0	79.0					3																	187447392		2203	4300	6503	SO:0001819	synonymous_variant	604	exon4			TGCCTCTTCTGGG		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.801A>G	chr3.hg19:g.187447392T>C		121.0	0.0		41.0	11.0	NM_001134738	A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	hg19	CCDS3289.1																																																																																			.	.		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
ATP13A4	84239	hgsc.bcm.edu	37	3	193174846	193174846	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr3:193174846G>T	ENST00000342695.4	-	16	2180	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L601M	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	620						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGAATGCCAGTCGGTCACCT	0.502																																					p.L620M		Atlas-SNP	.											.	ATP13A4	154	.	0			c.C1858A						.						105.0	90.0	95.0					3																	193174846		2203	4300	6503	SO:0001583	missense	84239	exon16			ATGCCAGTCGGTC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1858C>A	chr3.hg19:g.193174846G>T	ENSP00000339182:p.Leu620Met	168.0	0.0		62.0	22.0	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	hg19	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	0.412	-0.912741	0.02415	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.71817	-0.6;-0.6	6.08	0.395	0.16304	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	2.312790	0.01449	N	0.015389	T	0.54598	0.1868	N	0.20328	0.56	0.09310	N	0.999998	B;B;B	0.14438	0.003;0.01;0.003	B;B;B	0.21360	0.01;0.034;0.01	T	0.35176	-0.9799	10	0.11794	T	0.64	-23.6273	6.8172	0.23837	0.0624:0.0941:0.4278:0.4158	.	601;620;620	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	M	601;620	ENSP00000376238:L601M;ENSP00000339182:L620M	ENSP00000339182:L620M	L	-	1	2	ATP13A4	194657540	0.007000	0.16637	0.745000	0.31077	0.845000	0.48019	0.405000	0.21015	0.119000	0.18210	0.655000	0.94253	CTG	.	.		0.502	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
WNT8A	7478	hgsc.bcm.edu	37	5	137426639	137426639	+	Silent	SNP	C	C	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr5:137426639C>T	ENST00000398754.1	+	6	938	c.933C>T	c.(931-933)agC>agT	p.S311S	WNT8A_ENST00000506684.1_Silent_p.S329S	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	311					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCATAAGCAGCTGTAACTGCA	0.562																																					p.S311S		Atlas-SNP	.											.	WNT8A	36	.	0			c.C933T						.						124.0	131.0	129.0					5																	137426639		2128	4247	6375	SO:0001819	synonymous_variant	7478	exon6			AAGCAGCTGTAAC	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.933C>T	chr5.hg19:g.137426639C>T		121.0	0.0		49.0	25.0	NM_058244	Q96S51	Silent	SNP	ENST00000398754.1	hg19	CCDS43368.1																																																																																			.	.		0.562	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	
PCDHA7	56141	hgsc.bcm.edu	37	5	140215321	140215321	+	Silent	SNP	C	C	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr5:140215321C>T	ENST00000525929.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	451	Cadherin 4. {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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCCCCGGCGT	0.677																																					p.N451N	NSCLC(160;258 2013 5070 22440 28951)	Atlas-SNP	.											.	PCDHA7	367	.	0			c.C1353T						.						65.0	69.0	68.0					5																	140215321		2203	4298	6501	SO:0001819	synonymous_variant	56141	exon1			CGACAACGCCCCG	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1353C>T	chr5.hg19:g.140215321C>T		379.0	0.0		113.0	55.0	NM_031852	O75282	Silent	SNP	ENST00000525929.1	hg19	CCDS54918.1																																																																																			.	.		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
TAP1	6890	hgsc.bcm.edu	37	6	32816536	32816536	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr6:32816536G>A	ENST00000354258.4	-	7	1800	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	TAPSAR1_ENST00000453426.1_lincRNA|TAP1_ENST00000425148.2_Missense_Mutation_p.R286C|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	547	Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GGTGGGCAGCGAGGGGTGCGG	0.532																																					p.R547C		Atlas-SNP	.											.	TAP1	39	.	0			c.C1639T						.						130.0	132.0	131.0					6																	32816536		2203	4300	6503	SO:0001583	missense	6890	exon7			GGCAGCGAGGGGT		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1639C>T	chr6.hg19:g.32816536G>A	ENSP00000346206:p.Arg547Cys	94.0	0.0		37.0	8.0	NM_000593	Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	hg19	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	8.083	0.772865	0.16051	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.87334	-2.22;-2.24	5.02	-1.79	0.07932	.	1.376040	0.04789	N	0.431351	T	0.66046	0.2750	L	0.47190	1.495	0.09310	N	0.999999	B	0.13145	0.007	B	0.08055	0.003	T	0.51624	-0.8682	10	0.37606	T	0.19	6.0E-4	5.1321	0.14915	0.4823:0.0:0.3802:0.1375	.	547	Q03518	TAP1_HUMAN	C	547;286	ENSP00000346206:R547C;ENSP00000401919:R286C	ENSP00000346206:R547C	R	-	1	0	TAP1	32924514	0.002000	0.14202	0.028000	0.17463	0.681000	0.39784	-0.198000	0.09505	-0.630000	0.05567	0.643000	0.83706	CGC	.	.		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
ECT2L	345930	hgsc.bcm.edu	37	6	139202242	139202242	+	Missense_Mutation	SNP	C	C	T	rs368116476		TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr6:139202242C>T	ENST00000423192.1	+	14	1975	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V	ECT2L_ENST00000367682.2_Missense_Mutation_p.A605V|ECT2L_ENST00000541398.1_Missense_Mutation_p.A536V|RP3-509I19.6_ENST00000572284.1_RNA			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	605	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAACAGAGCGATTCTGAGT	0.368			"""N, Splice, Mis"""		ETP ALL																																p.A605V		Atlas-SNP	.		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	ECT2L	75	.	0			c.C1814T						.						114.0	108.0	110.0					6																	139202242		1959	4162	6121	SO:0001583	missense	345930	exon14			ACAGAGCGATTCT		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1814C>T	chr6.hg19:g.139202242C>T	ENSP00000387388:p.Ala605Val	106.0	0.0		62.0	17.0	NM_001195037	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	hg19	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.024108	0.93462	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.64085	-0.08;-0.08;1.52	5.53	5.53	0.82687	Dbl homology (DH) domain (5);	0.135350	0.27773	U	0.017910	T	0.72244	0.3436	M	0.61703	1.905	0.42102	D	0.991345	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	T	0.73871	-0.3846	10	0.59425	D	0.04	-4.1812	16.3823	0.83472	0.0:1.0:0.0:0.0	.	536;605	F5H7S9;Q008S8	.;ECT2L_HUMAN	V	605;605;536	ENSP00000387388:A605V;ENSP00000356655:A605V;ENSP00000442307:A536V	ENSP00000356655:A605V	A	+	2	0	ECT2L	139243935	1.000000	0.71417	0.966000	0.40874	0.989000	0.77384	5.783000	0.68982	2.609000	0.88269	0.655000	0.94253	GCG	.	.		0.368	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
NOX3	50508	hgsc.bcm.edu	37	6	155776225	155776225	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr6:155776225G>T	ENST00000159060.2	-	2	189	c.87C>A	c.(85-87)gaC>gaA	p.D29E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	29					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGTAGAACGTGTCAATAAACA	0.328																																					p.D29E		Atlas-SNP	.											.	NOX3	93	.	0			c.C87A						.						62.0	60.0	61.0					6																	155776225		2203	4300	6503	SO:0001583	missense	50508	exon2			GAACGTGTCAATA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.87C>A	chr6.hg19:g.155776225G>T	ENSP00000159060:p.Asp29Glu	199.0	0.0		101.0	52.0	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	hg19	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413843	0.25465	.	.	ENSG00000074771	ENST00000159060	D	0.94966	-3.57	5.61	3.83	0.44106	.	0.158387	0.44483	D	0.000443	D	0.84079	0.5393	L	0.50333	1.59	0.33157	D	0.546529	P	0.36282	0.546	B	0.30401	0.115	T	0.77405	-0.2600	10	0.29301	T	0.29	-17.4884	8.9582	0.35832	0.2475:0.0:0.7525:0.0	.	29	Q9HBY0	NOX3_HUMAN	E	29	ENSP00000159060:D29E	ENSP00000159060:D29E	D	-	3	2	NOX3	155817917	1.000000	0.71417	0.811000	0.32455	0.895000	0.52256	1.267000	0.33050	0.843000	0.35070	0.650000	0.86243	GAC	.	.		0.328	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
PCLO	27445	hgsc.bcm.edu	37	7	82581541	82581541	+	Missense_Mutation	SNP	C	C	T	rs547500251		TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr7:82581541C>T	ENST00000333891.9	-	5	9065	c.8728G>A	c.(8728-8730)Gta>Ata	p.V2910I	PCLO_ENST00000423517.2_Missense_Mutation_p.V2910I|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCATTGTTACGACTGTTCTG	0.443																																					p.V2910I		Atlas-SNP	.											Q9Y6V0-3,NS,carcinoma,0,3	PCLO	1506	.	0			c.G8728A						.						205.0	194.0	198.0					7																	82581541		1964	4149	6113	SO:0001583	missense	27445	exon5			TTGTTACGACTGT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8728G>A	chr7.hg19:g.82581541C>T	ENSP00000334319:p.Val2910Ile	81.0	0.0		37.0	24.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888821	0.33348	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.56444	0.49;0.46	5.68	4.8	0.61643	.	.	.	.	.	T	0.52289	0.1725	M	0.66939	2.045	0.80722	D	1	P;P	0.37061	0.58;0.58	B;B	0.35240	0.198;0.198	T	0.58940	-0.7547	9	0.87932	D	0	.	14.4892	0.67639	0.0:0.9296:0.0:0.0704	.	2910;2910	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2841;2910;2910	ENSP00000334319:V2910I;ENSP00000388393:V2910I	ENSP00000334319:V2910I	V	-	1	0	PCLO	82419477	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	6.064000	0.71169	1.396000	0.46663	0.563000	0.77884	GTA	.	.		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	hgsc.bcm.edu	37	7	82784846	82784846	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr7:82784846G>T	ENST00000333891.9	-	2	1448	c.1111C>A	c.(1111-1113)Cct>Act	p.P371T	PCLO_ENST00000423517.2_Missense_Mutation_p.P371T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAGCTGGAGGCTTAGCAGGA	0.567																																					p.P371T		Atlas-SNP	.											.	PCLO	1506	.	0			c.C1111A						.						51.0	53.0	52.0					7																	82784846		1976	4166	6142	SO:0001583	missense	27445	exon2			CTGGAGGCTTAGC	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1111C>A	chr7.hg19:g.82784846G>T	ENSP00000334319:p.Pro371Thr	251.0	0.0		117.0	16.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.310297	0.01342	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.25	4.07	-1.37	0.09056	.	.	.	.	.	T	0.12433	0.0302	L	0.42245	1.32	0.09310	N	0.999997	B;B	0.15141	0.005;0.012	B;B	0.15870	0.005;0.014	T	0.31558	-0.9939	9	0.87932	D	0	.	2.9002	0.05703	0.2141:0.2269:0.45:0.109	.	371;371	Q9Y6V0-5;Q9Y6V0-6	.;.	T	371	ENSP00000334319:P371T;ENSP00000388393:P371T	ENSP00000334319:P371T	P	-	1	0	PCLO	82622782	0.054000	0.20591	0.000000	0.03702	0.268000	0.26511	-0.022000	0.12480	-0.994000	0.03463	-0.797000	0.03246	CCT	.	.		0.567	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ZNF804B	219578	hgsc.bcm.edu	37	7	88964537	88964537	+	Silent	SNP	C	C	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr7:88964537C>T	ENST00000333190.4	+	4	2850	c.2241C>T	c.(2239-2241)caC>caT	p.H747H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	747							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAGAGAACACCACTCAGTTG	0.413										HNSCC(36;0.09)																											p.H747H		Atlas-SNP	.											.	ZNF804B	322	.	0			c.C2241T						.						86.0	79.0	81.0					7																	88964537		2203	4300	6503	SO:0001819	synonymous_variant	219578	exon4			AGAACACCACTCA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2241C>T	chr7.hg19:g.88964537C>T		131.0	0.0		58.0	6.0	NM_181646	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	hg19	CCDS5613.1																																																																																			.	.		0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
PTCD1	26024	hgsc.bcm.edu	37	7	99021404	99021404	+	Silent	SNP	A	A	G			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr7:99021404A>G	ENST00000292478.4	-	7	2164	c.1914T>C	c.(1912-1914)ttT>ttC	p.F638F	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.F687F|PTCD1_ENST00000555673.1_Silent_p.F687F	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	638					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACACCCGGTCAAAGGTGGGAG	0.582																																					p.F687F		Atlas-SNP	.											.	.	.	.	0			c.T2061C						.						158.0	141.0	147.0					7																	99021404		2203	4300	6503	SO:0001819	synonymous_variant	100526740	exon8			CCGGTCAAAGGTG	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1914T>C	chr7.hg19:g.99021404A>G		132.0	0.0		66.0	25.0	NM_001198879	Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	hg19	CCDS34691.1																																																																																			.	.		0.582	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545	
NAPEPLD	222236	hgsc.bcm.edu	37	7	102760530	102760530	+	Silent	SNP	G	G	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr7:102760530G>A	ENST00000417955.1	-	3	589	c.435C>T	c.(433-435)ctC>ctT	p.L145L	NAPEPLD_ENST00000341533.4_Silent_p.L145L|NAPEPLD_ENST00000455523.2_Silent_p.L218L|NAPEPLD_ENST00000427257.1_Silent_p.L145L|NAPEPLD_ENST00000465647.1_Silent_p.L145L			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	145					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGGGATCCGTGAGAAATATGA	0.502																																					p.L145L		Atlas-SNP	.											.	NAPEPLD	49	.	0			c.C435T						.						161.0	124.0	136.0					7																	102760530		2203	4300	6503	SO:0001819	synonymous_variant	222236	exon3			ATCCGTGAGAAAT	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.435C>T	chr7.hg19:g.102760530G>A		169.0	0.0		56.0	35.0	NM_001122838	Q5CZ87|Q769K1	Silent	SNP	ENST00000417955.1	hg19	CCDS5729.1																																																																																			.	.		0.502	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990	
PPP1R3A	5506	hgsc.bcm.edu	37	7	113519408	113519408	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr7:113519408T>C	ENST00000284601.3	-	4	1807	c.1739A>G	c.(1738-1740)gAt>gGt	p.D580G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	580					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D580V(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGAGACACATCTGCTGTGAT	0.483																																					p.D580G		Atlas-SNP	.											PPP1R3A,colon,carcinoma,+1,2	PPP1R3A	317	.	1	Substitution - Missense(1)	ovary(1)	c.A1739G						.						116.0	111.0	113.0					7																	113519408		2203	4300	6503	SO:0001583	missense	5506	exon4			GACACATCTGCTG	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1739A>G	chr7.hg19:g.113519408T>C	ENSP00000284601:p.Asp580Gly	228.0	0.0		83.0	48.0	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	hg19	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.167400	0.38315	.	.	ENSG00000154415	ENST00000284601	T	0.18960	2.18	5.89	2.34	0.29019	.	0.367658	0.26407	N	0.024551	T	0.21427	0.0516	M	0.69823	2.125	0.09310	N	1	B	0.19200	0.034	B	0.12156	0.007	T	0.17410	-1.0370	10	0.44086	T	0.13	-0.3165	7.6128	0.28139	0.0:0.2351:0.0:0.7649	.	580	Q16821	PPR3A_HUMAN	G	580	ENSP00000284601:D580G	ENSP00000284601:D580G	D	-	2	0	PPP1R3A	113306644	0.000000	0.05858	0.004000	0.12327	0.062000	0.15995	0.087000	0.14958	0.505000	0.28104	0.460000	0.39030	GAT	.	.		0.483	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
ZNF398	57541	hgsc.bcm.edu	37	7	148863347	148863347	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr7:148863347A>G	ENST00000475153.1	+	3	785	c.518A>G	c.(517-519)aAg>aGg	p.K173R	ZNF398_ENST00000420008.2_Missense_Mutation_p.K2R|ZNF398_ENST00000540950.1_Missense_Mutation_p.K178R|ZNF398_ENST00000483892.1_Missense_Mutation_p.K2R|ZNF398_ENST00000426851.2_Missense_Mutation_p.K2R|ZNF398_ENST00000491174.1_Missense_Mutation_p.K2R|ZNF398_ENST00000335901.4_Missense_Mutation_p.K2R			Q8TD17	ZN398_HUMAN	zinc finger protein 398	173	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|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)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AATATCATGAAGGGCAACTAC	0.453																																					p.K173R		Atlas-SNP	.											.	ZNF398	54	.	0			c.A518G						.						139.0	134.0	136.0					7																	148863347		2203	4300	6503	SO:0001583	missense	57541	exon3			TCATGAAGGGCAA	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.518A>G	chr7.hg19:g.148863347A>G	ENSP00000420418:p.Lys173Arg	145.0	0.0		62.0	25.0	NM_170686	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	hg19	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.299033	0.60195	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.05717	3.4;3.4;4.72;3.4;3.4;4.72;3.4	5.24	5.24	0.73138	Krueppel-associated box (4);	0.000000	0.48767	D	0.000177	T	0.07324	0.0185	N	0.01352	-0.895	0.33048	D	0.532414	D;P	0.69078	0.997;0.543	D;B	0.79108	0.992;0.306	T	0.49952	-0.8884	10	0.62326	D	0.03	-23.2364	13.1015	0.59222	1.0:0.0:0.0:0.0	.	178;173	B4DXA9;Q8TD17	.;ZN398_HUMAN	R	2;2;173;2;2;178;2	ENSP00000389972:K2R;ENSP00000416751:K2R;ENSP00000420418:K173R;ENSP00000418564:K2R;ENSP00000419391:K2R;ENSP00000439340:K178R;ENSP00000338984:K2R	ENSP00000338984:K2R	K	+	2	0	ZNF398	148494280	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.923000	0.48868	1.979000	0.57680	0.460000	0.39030	AAG	.	.		0.453	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2		
KCNB2	9312	hgsc.bcm.edu	37	8	73480262	73480262	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr8:73480262C>A	ENST00000523207.1	+	2	881	c.293C>A	c.(292-294)tCc>tAc	p.S98Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	98					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCCTTCACTTCCATTTTAAAT	0.463																																					p.S98Y		Atlas-SNP	.											.	KCNB2	228	.	0			c.C293A						.						78.0	80.0	79.0					8																	73480262		2203	4300	6503	SO:0001583	missense	9312	exon2			TCACTTCCATTTT	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.293C>A	chr8.hg19:g.73480262C>A	ENSP00000430846:p.Ser98Tyr	114.0	0.0		63.0	8.0	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040219	0.75732	.	.	ENSG00000182674	ENST00000523207	T	0.76578	-1.03	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.31577	U	0.007412	T	0.81749	0.4888	N	0.21448	0.665	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.79415	-0.1813	10	0.32370	T	0.25	.	19.9643	0.97261	0.0:1.0:0.0:0.0	.	98	Q92953	KCNB2_HUMAN	Y	98	ENSP00000430846:S98Y	ENSP00000430846:S98Y	S	+	2	0	KCNB2	73642816	1.000000	0.71417	0.983000	0.44433	0.974000	0.67602	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TCC	.	.		0.463	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
TMEM67	91147	hgsc.bcm.edu	37	8	94800156	94800156	+	Silent	SNP	T	T	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr8:94800156T>C	ENST00000453321.3	+	14	1555	c.1497T>C	c.(1495-1497)gaT>gaC	p.D499D	TMEM67_ENST00000409623.3_Silent_p.D418D	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	499					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)			ATATCAAAGATGCCAACAGCC	0.363																																					p.D499D		Atlas-SNP	.											.	TMEM67	187	.	0			c.T1497C						.						157.0	140.0	146.0					8																	94800156		2203	4300	6503	SO:0001819	synonymous_variant	91147	exon14			CAAAGATGCCAAC	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.1497T>C	chr8.hg19:g.94800156T>C		147.0	0.0		95.0	31.0	NM_153704	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	hg19	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.648910	0.00785	.	.	ENSG00000164953	ENST00000520680	.	.	.	5.94	-3.95	0.04118	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.51767	D	0.999932	.	.	.	.	.	.	T	0.50792	-0.8786	4	.	.	.	-9.9885	10.5332	0.44988	0.0:0.3893:0.089:0.5217	.	.	.	.	R	107	.	.	C	+	1	0	TMEM67	94869332	0.981000	0.34729	0.006000	0.13384	0.013000	0.08279	0.212000	0.17497	-1.420000	0.02009	-2.549000	0.00178	TGC	.	.		0.363	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	
PRPF4	9128	hgsc.bcm.edu	37	9	116049016	116049016	+	Silent	SNP	C	C	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr9:116049016C>T	ENST00000374198.4	+	9	945	c.843C>T	c.(841-843)ttC>ttT	p.F281F	PRPF4_ENST00000374199.4_Silent_p.F280F	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	281				NVGAIVFH -> KKEQLHSI (in Ref. 3; AAC02261). {ECO:0000305}.	gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CAATTGTATTCCATCCCAAAT	0.443																																					p.F281F		Atlas-SNP	.											.	PRPF4	56	.	0			c.C843T						.						299.0	292.0	294.0					9																	116049016		2203	4300	6503	SO:0001819	synonymous_variant	9128	exon9			TGTATTCCATCCC	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.843C>T	chr9.hg19:g.116049016C>T		145.0	0.0		37.0	10.0	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Silent	SNP	ENST00000374198.4	hg19	CCDS6791.1																																																																																			.	.		0.443	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	
NRG3	10718	hgsc.bcm.edu	37	10	84498384	84498384	+	Silent	SNP	T	T	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr10:84498384T>C	ENST00000404547.1	+	3	1005	c.1005T>C	c.(1003-1005)acT>acC	p.T335T	NRG3_ENST00000556918.1_Silent_p.T165T|NRG3_ENST00000372142.2_Silent_p.T114T|NRG3_ENST00000372141.2_Silent_p.T335T|NRG3_ENST00000404576.2_Silent_p.T139T			P56975	NRG3_HUMAN	neuregulin 3	335					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGCCGAAAACTGATTCCATCT	0.413																																					p.T335T		Atlas-SNP	.											NRG3_ENST00000372142,NS,carcinoma,0,2	NRG3	301	.	0			c.T1005C						.						157.0	139.0	146.0					10																	84498384		2203	4300	6503	SO:0001819	synonymous_variant	10718	exon3			GAAAACTGATTCC	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1005T>C	chr10.hg19:g.84498384T>C		158.0	0.0		68.0	21.0	NM_001165972	A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	hg19	CCDS31233.1																																																																																			.	.		0.413	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	
FRA10AC1	118924	hgsc.bcm.edu	37	10	95436450	95436450	+	Splice_Site	SNP	T	T	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr10:95436450T>C	ENST00000359204.4	-	12	985		c.e12-2		FRA10AC1_ENST00000536233.1_Splice_Site|FRA10AC1_ENST00000371430.2_Splice_Site|FRA10AC1_ENST00000394100.2_Splice_Site|FRA10AC1_ENST00000460752.1_5'Flank	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ATGAATGTCCTGAAAAGGAAA	0.269																																					.		Atlas-SNP	.											.	FRA10AC1	68	.	0			c.788-2A>G						.						33.0	36.0	35.0					10																	95436450		2192	4268	6460	SO:0001630	splice_region_variant	118924	exon13			ATGTCCTGAAAAG	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.788-2A>G	chr10.hg19:g.95436450T>C		237.0	1.0		87.0	45.0	NM_145246	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Splice_Site	SNP	ENST00000359204.4	hg19	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.832343	0.32421	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1899	0.48679	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRA10AC1	95426440	1.000000	0.71417	0.869000	0.34112	0.379000	0.30106	3.557000	0.53741	1.953000	0.56701	0.460000	0.39030	.	.	.		0.269	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246	Intron
CYP2C8	1558	hgsc.bcm.edu	37	10	96802834	96802834	+	Splice_Site	SNP	G	G	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr10:96802834G>C	ENST00000371270.3	-	7	1056	c.962C>G	c.(961-963)gCt>gGt	p.A321G	CYP2C8_ENST00000535898.1_Splice_Site_p.A219G|CYP2C8_ENST00000539050.1_Splice_Site_p.A235G	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	321					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CTGGACTTTAGCTGACAAGAC	0.433																																					p.A321G		Atlas-SNP	.											CYP2C8,NS,carcinoma,0,1	CYP2C8	73	.	0			c.C962G						.						134.0	110.0	118.0					10																	96802834		2203	4300	6503	SO:0001630	splice_region_variant	1558	exon7			ACTTTAGCTGACA	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.962-1C>G	chr10.hg19:g.96802834G>C		163.0	0.0		38.0	14.0	NM_000770	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	hg19	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983095	0.34942	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.13901	2.55;2.55;2.55	4.49	-1.05	0.10036	.	0.235594	0.33854	U	0.004496	T	0.09202	0.0227	L	0.46947	1.48	0.36495	D	0.868631	B;B;B;B	0.13594	0.001;0.003;0.008;0.004	B;B;B;B	0.15052	0.006;0.005;0.01;0.012	T	0.12993	-1.0526	10	0.59425	D	0.04	.	1.8674	0.03201	0.1746:0.1298:0.432:0.2636	.	235;219;289;321	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	G	321;288;219;235	ENSP00000360317:A321G;ENSP00000445062:A219G;ENSP00000442343:A235G	ENSP00000360317:A321G	A	-	2	0	CYP2C8	96792824	0.993000	0.37304	0.947000	0.38551	0.903000	0.53119	0.750000	0.26334	0.140000	0.18849	0.585000	0.79938	GCT	.	.		0.433	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	Missense_Mutation
OAT	4942	hgsc.bcm.edu	37	10	126092375	126092375	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr10:126092375T>A	ENST00000368845.5	-	6	855	c.763A>T	c.(763-765)Agg>Tgg	p.R255W	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Missense_Mutation_p.R117W	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	255					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	ACCTGGTGCCTGGTGCAGAGC	0.512											OREG0020605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R255W		Atlas-SNP	.											.	OAT	25	.	0			c.A763T						.						117.0	88.0	98.0					10																	126092375		2203	4300	6503	SO:0001583	missense	4942	exon6			GGTGCCTGGTGCA	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.763A>T	chr10.hg19:g.126092375T>A	ENSP00000357838:p.Arg255Trp	152.0	0.0	1547	41.0	12.0	NM_000274	D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	hg19	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575067	0.86542	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.99060	-5.38;-5.38	4.82	-2.36	0.06663	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.382419	0.31963	N	0.006790	D	0.98648	0.9547	M	0.86953	2.85	0.37842	D	0.929079	P	0.50272	0.933	P	0.53006	0.715	D	0.98327	1.0531	10	0.87932	D	0	-9.3808	10.8424	0.46724	0.0:0.0703:0.3237:0.606	.	255	P04181	OAT_HUMAN	W	117;255	ENSP00000439042:R117W;ENSP00000357838:R255W	ENSP00000357838:R255W	R	-	1	2	OAT	126082365	0.993000	0.37304	0.967000	0.41034	0.996000	0.88848	1.347000	0.33975	-0.390000	0.07774	0.533000	0.62120	AGG	.	.		0.512	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274	
BRSK2	9024	hgsc.bcm.edu	37	11	1466531	1466531	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr11:1466531A>G	ENST00000528841.1	+	10	1204	c.820A>G	c.(820-822)Aag>Gag	p.K274E	BRSK2_ENST00000531197.1_Missense_Mutation_p.K274E|BRSK2_ENST00000526678.1_Missense_Mutation_p.K274E|BRSK2_ENST00000528710.1_Missense_Mutation_p.K214E|BRSK2_ENST00000382179.1_Missense_Mutation_p.K320E|BRSK2_ENST00000308219.9_Missense_Mutation_p.K274E|BRSK2_ENST00000308230.5_Missense_Mutation_p.K274E|BRSK2_ENST00000544817.1_5'UTR			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	274					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CAGAGGGGGCAAGAATGAGCC	0.692																																					p.K320E		Atlas-SNP	.											.	BRSK2	97	.	0			c.A958G						.						31.0	39.0	36.0					11																	1466531		2127	4227	6354	SO:0001583	missense	9024	exon10			GGGGGCAAGAATG	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.820A>G	chr11.hg19:g.1466531A>G	ENSP00000432000:p.Lys274Glu	137.0	0.0		33.0	19.0	NM_001256630	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	hg19	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312984	0.40895	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.72942	-0.69;-0.69;-0.7;-0.7;-0.7;-0.51;-0.53	3.72	3.72	0.42706	Protein kinase-like domain (1);	0.058569	0.64402	U	0.000003	T	0.76097	0.3940	L	0.54323	1.7	0.80722	D	1	P;D;P;B;B	0.71674	0.913;0.998;0.913;0.354;0.138	P;P;P;B;B	0.60541	0.702;0.876;0.615;0.101;0.06	T	0.74312	-0.3706	10	0.31617	T	0.26	.	12.5717	0.56341	1.0:0.0:0.0:0.0	.	274;320;274;274;274	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	E	274;274;274;274;274;214;320	ENSP00000310697:K274E;ENSP00000431152:K274E;ENSP00000310805:K274E;ENSP00000432000:K274E;ENSP00000433370:K274E;ENSP00000433235:K214E;ENSP00000371614:K320E	ENSP00000310697:K274E	K	+	1	0	BRSK2	1423107	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.442000	0.66575	1.569000	0.49696	0.260000	0.18958	AAG	.	.		0.692	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957	
ACCSL	390110	hgsc.bcm.edu	37	11	44072129	44072129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr11:44072129G>T	ENST00000378832.1	+	3	648	c.592G>T	c.(592-594)Gag>Tag	p.E198*		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	198					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GAACTGCATTGAGGACACCTT	0.468																																					p.E198X		Atlas-SNP	.											.	ACCSL	57	.	0			c.G592T						.						205.0	205.0	205.0					11																	44072129		1989	4179	6168	SO:0001587	stop_gained	390110	exon3			TGCATTGAGGACA		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.592G>T	chr11.hg19:g.44072129G>T	ENSP00000368109:p.Glu198*	217.0	0.0		63.0	27.0	NM_001031854		Nonsense_Mutation	SNP	ENST00000378832.1	hg19	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881766	0.91740	.	.	ENSG00000205126	ENST00000378832	.	.	.	5.08	5.08	0.68730	.	0.456429	0.26220	N	0.025640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-3.6168	16.0109	0.80402	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000368109:E198X	E	+	1	0	ACCSL	44028705	1.000000	0.71417	0.067000	0.19924	0.003000	0.03518	5.434000	0.66526	2.642000	0.89623	0.655000	0.94253	GAG	.	.		0.468	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
TCN1	6947	hgsc.bcm.edu	37	11	59620709	59620709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr11:59620709C>A	ENST00000257264.3	-	8	1311	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	403	Cobalamin binding.|Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCAGAAGTTCCCAGTAGGTT	0.512																																					p.E403X		Atlas-SNP	.											.	TCN1	64	.	0			c.G1207T						.						202.0	196.0	198.0					11																	59620709		2201	4295	6496	SO:0001587	stop_gained	6947	exon8			GAAGTTCCCAGTA	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1207G>T	chr11.hg19:g.59620709C>A	ENSP00000257264:p.Glu403*	198.0	0.0		70.0	8.0	NM_001062	A8KAC5|Q8WV77	Nonsense_Mutation	SNP	ENST00000257264.3	hg19	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804790	0.90623	.	.	ENSG00000134827	ENST00000257264	.	.	.	5.21	-3.96	0.04106	.	1.180030	0.06487	N	0.733900	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7525	11.2238	0.48871	0.0:0.1833:0.6546:0.1622	.	.	.	.	X	403	.	ENSP00000257264:E403X	E	-	1	0	TCN1	59377285	0.915000	0.31059	0.279000	0.24732	0.856000	0.48823	-0.314000	0.08092	-0.622000	0.05626	-0.182000	0.12963	GAA	.	.		0.512	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062	
NXF1	10482	hgsc.bcm.edu	37	11	62560160	62560160	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr11:62560160T>A	ENST00000532297.1	-	21	2403	c.1774A>T	c.(1774-1776)Aac>Tac	p.N592Y	TMEM223_ENST00000307366.7_5'Flank|TMEM223_ENST00000525631.1_5'Flank|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.N592Y|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	592	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCCAGTTGTTGTCCTGAAGG	0.502																																					p.N592Y		Atlas-SNP	.											.	NXF1	67	.	0			c.A1774T						.						128.0	114.0	118.0					11																	62560160		2201	4299	6500	SO:0001583	missense	10482	exon20			AGTTGTTGTCCTG	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1774A>T	chr11.hg19:g.62560160T>A	ENSP00000436679:p.Asn592Tyr	177.0	0.0		53.0	16.0	NM_006362	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	hg19	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396992	0.83120	.	.	ENSG00000162231	ENST00000294172;ENST00000532297	T;T	0.52983	0.64;0.64	5.06	5.06	0.68205	TAP, C-terminal (3);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74968	-0.3483	10	0.48119	T	0.1	-29.245	12.7796	0.57469	0.0:0.0:0.0:1.0	.	592	Q9UBU9	NXF1_HUMAN	Y	592	ENSP00000294172:N592Y;ENSP00000436679:N592Y	ENSP00000294172:N592Y	N	-	1	0	NXF1	62316736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.355000	0.79434	1.921000	0.55644	0.374000	0.22700	AAC	.	.		0.502	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	
OR8D2	283160	hgsc.bcm.edu	37	11	124189177	124189177	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr11:124189177C>A	ENST00000357438.2	-	1	1007	c.917G>T	c.(916-918)aGg>aTg	p.R306M		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CTGCCTTCCCCTAGTCATCTT	0.398																																					p.R306M		Atlas-SNP	.											OR8D2,NS,carcinoma,+1,2	OR8D2	65	.	0			c.G917T						.						98.0	98.0	98.0					11																	124189177		2201	4299	6500	SO:0001583	missense	283160	exon1			CTTCCCCTAGTCA	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.917G>T	chr11.hg19:g.124189177C>A	ENSP00000350022:p.Arg306Met	70.0	0.0		34.0	9.0	NM_001002918	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	hg19	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	7.982	0.751422	0.15778	.	.	ENSG00000197263	ENST00000357438	T	0.39229	1.09	2.97	0.878	0.19150	.	0.323087	0.22065	N	0.065119	T	0.35278	0.0926	L	0.59967	1.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31475	-0.9942	10	0.51188	T	0.08	.	8.5416	0.33395	0.6119:0.388:0.0:0.0	.	306	Q9GZM6	OR8D2_HUMAN	M	306	ENSP00000350022:R306M	ENSP00000350022:R306M	R	-	2	0	OR8D2	123694387	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.222000	0.09190	0.247000	0.21414	0.590000	0.80494	AGG	.	.		0.398	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918	
FKBP11	51303	hgsc.bcm.edu	37	12	49317594	49317594	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr12:49317594C>T	ENST00000550765.1	-	5	757	c.359G>A	c.(358-360)gGa>gAa	p.G120E	CCDC65_ENST00000266984.5_Intron|AC073610.5_ENST00000537495.1_Intron|FKBP11_ENST00000453172.2_Missense_Mutation_p.G120E|FKBP11_ENST00000444214.2_Missense_Mutation_p.G18E|RP11-302B13.5_ENST00000398092.4_Intron|FKBP11_ENST00000552878.1_Missense_Mutation_p.G120E	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	120	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						TCCCCGTTTTCCATAGGCCAA	0.507																																					p.G120E		Atlas-SNP	.											.	FKBP11	12	.	0			c.G359A						.						164.0	141.0	149.0					12																	49317594		2203	4300	6503	SO:0001583	missense	51303	exon5			CGTTTTCCATAGG	AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"""FK506 binding protein 11 (19 kDa)"""			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.359G>A	chr12.hg19:g.49317594C>T	ENSP00000449751:p.Gly120Glu	196.0	0.0		65.0	13.0	NM_016594	B4DWB7	Missense_Mutation	SNP	ENST00000550765.1	hg19	CCDS8773.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577281	0.65878	.	.	ENSG00000134285	ENST00000444214;ENST00000550765;ENST00000552878;ENST00000453172	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.16	5.16	0.70880	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92981	0.6406	10	0.87932	D	0	-8.3201	17.8082	0.88608	0.0:1.0:0.0:0.0	.	120;120	B4DWB7;Q9NYL4	.;FKB11_HUMAN	E	18;120;120;120	ENSP00000412403:G18E;ENSP00000449751:G120E;ENSP00000447911:G120E;ENSP00000396874:G120E	ENSP00000412403:G18E	G	-	2	0	FKBP11	47603861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.373000	0.73128	2.574000	0.86865	0.650000	0.86243	GGA	.	.		0.507	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594	
TPH2	121278	hgsc.bcm.edu	37	12	72388234	72388234	+	Silent	SNP	A	A	G			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr12:72388234A>G	ENST00000333850.3	+	8	1098	c.957A>G	c.(955-957)gaA>gaG	p.E319E		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	319					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CATGCCATGAACTCTTGGGAC	0.393																																					p.E319E		Atlas-SNP	.											.	TPH2	81	.	0			c.A957G						.						156.0	152.0	153.0					12																	72388234		2203	4300	6503	SO:0001819	synonymous_variant	121278	exon8			CCATGAACTCTTG	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.957A>G	chr12.hg19:g.72388234A>G		142.0	0.0		41.0	13.0	NM_173353	A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	hg19	CCDS31859.1																																																																																			.	.		0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	
FBN1	2200	hgsc.bcm.edu	37	15	48802359	48802359	+	Missense_Mutation	SNP	A	A	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr15:48802359A>C	ENST00000316623.5	-	14	2051	c.1596T>G	c.(1594-1596)gaT>gaG	p.D532E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	532	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTAAACACTCATCAATGTCTA	0.383																																					p.D532E		Atlas-SNP	.											.	FBN1	310	.	0			c.T1596G						.						74.0	67.0	70.0					15																	48802359		2197	4296	6493	SO:0001583	missense	2200	exon14			ACACTCATCAATG	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1596T>G	chr15.hg19:g.48802359A>C	ENSP00000325527:p.Asp532Glu	167.0	0.0		52.0	21.0	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110957	0.56398	.	.	ENSG00000166147	ENST00000316623	D	0.95307	-3.67	5.5	0.665	0.17896	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97539	0.9194	H	0.96489	3.83	0.80722	D	1	D	0.63046	0.992	D	0.79108	0.992	D	0.96179	0.9129	10	0.87932	D	0	.	8.7594	0.34665	0.696:0.0:0.304:0.0	.	532	P35555	FBN1_HUMAN	E	532	ENSP00000325527:D532E	ENSP00000325527:D532E	D	-	3	2	FBN1	46589651	0.499000	0.26083	1.000000	0.80357	0.357000	0.29423	-0.007000	0.12810	0.137000	0.18759	-0.326000	0.08463	GAT	.	.		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
RPS2	6187	hgsc.bcm.edu	37	16	2013233	2013233	+	Silent	SNP	G	G	A	rs377086871		TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr16:2013233G>A	ENST00000343262.4	-	4	348	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	RPS2_ENST00000530225.1_Silent_p.L98L|RPS2_ENST00000529806.1_Silent_p.L68L|RPS2_ENST00000526522.1_Silent_p.L98L|SNHG9_ENST00000459373.1_lincRNA|SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	98					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)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GAGGCCCCCAGGAAGAAATCA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18340	0.0		0.0	False		,,,				2504	0.0				p.L98L		Atlas-SNP	.											.	RPS2	18	.	0			c.C292T						.	G		2,4360		0,2,2179	8.0	8.0	8.0		292	-2.3	0.9	16		8	0,8546		0,0,4273	no	coding-synonymous	RPS2	NM_002952.3		0,2,6452	AA,AG,GG		0.0,0.0459,0.0155		98/294	2013233	2,12906	2181	4273	6454	SO:0001819	synonymous_variant	6187	exon4			CCCCCAGGAAGAA	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.292C>T	chr16.hg19:g.2013233G>A		129.0	0.0		34.0	14.0	NM_002952	B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	hg19	CCDS10452.1																																																																																			.	.		0.448	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952	
SPAG5	10615	hgsc.bcm.edu	37	17	26912926	26912926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr17:26912926C>A	ENST00000321765.5	-	7	2028	c.1696G>T	c.(1696-1698)Gag>Tag	p.E566*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	566	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGCCTTGCCTCCTCCCTTTCT	0.498																																					p.E566X		Atlas-SNP	.											.	SPAG5	92	.	0			c.G1696T						.						225.0	197.0	207.0					17																	26912926		2203	4300	6503	SO:0001587	stop_gained	10615	exon7			TTGCCTCCTCCCT	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1696G>T	chr17.hg19:g.26912926C>A	ENSP00000323300:p.Glu566*	206.0	0.0		71.0	19.0	NM_006461	O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	41	8.745863	0.98937	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	5.79	3.63	0.41609	.	0.205973	0.34178	N	0.004186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-6.2652	11.993	0.53186	0.0:0.6638:0.3362:0.0	.	.	.	.	X	566;63	.	ENSP00000323300:E566X	E	-	1	0	SPAG5	23937053	1.000000	0.71417	0.910000	0.35882	0.997000	0.91878	1.684000	0.37649	1.399000	0.46721	0.655000	0.94253	GAG	.	.		0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
EVI2B	2124	hgsc.bcm.edu	37	17	29632211	29632211	+	Silent	SNP	T	T	C			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr17:29632211T>C	ENST00000330927.4	-	2	571	c.417A>G	c.(415-417)ccA>ccG	p.P139P	EVI2B_ENST00000544462.1_Silent_p.P154P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Silent_p.P139P	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	139						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CAAATGACTTTGGTGGTTGTG	0.438																																					p.P139P		Atlas-SNP	.											.	EVI2B	33	.	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.A417G						.						418.0	347.0	371.0					17																	29632211		2203	4300	6503	SO:0001819	synonymous_variant	2124	exon2			TGACTTTGGTGGT		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.417A>G	chr17.hg19:g.29632211T>C		617.0	0.0		292.0	23.0	NM_006495	B7Z4A7	Silent	SNP	ENST00000330927.4	hg19	CCDS11266.1																																																																																			.	.		0.438	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495	
KRTAP29-1	100533177	hgsc.bcm.edu	37	17	39458417	39458417	+	Silent	SNP	C	C	T	rs201973633		TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr17:39458417C>T	ENST00000391353.1	-	1	686	c.687G>A	c.(685-687)tcG>tcA	p.S229S		NM_001257309.1	NP_001244238.1	A8MX34	KR291_HUMAN	keratin associated protein 29-1	229	7 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)											ACACACAAGTCGATGGCTGGC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		24547	0.0		0.001	False		,,,				2504	0.0				p.S229S		Atlas-SNP	.											.	KRTAP29-1	2	.	0			c.G687A						.																																			SO:0001819	synonymous_variant	100533177	exon1			ACAAGTCGATGGC		CCDS62183.1	17q21.2	2013-06-20			ENSG00000212658	ENSG00000212658		"""Keratin associated proteins"""	34211	protein-coding gene	gene with protein product							Standard	NM_001257309		Approved	KAP29.2	uc031rai.1	A8MX34	OTTHUMG00000133662	ENST00000391353.1:c.687G>A	chr17.hg19:g.39458417C>T		130.0	0.0		44.0	12.0	NM_001257309		Silent	SNP	ENST00000391353.1	hg19																																																																																				.	C|0.998;T|0.002		0.493	KRTAP29-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257828.2		
GOSR2	9570	hgsc.bcm.edu	37	17	45000561	45000561	+	Start_Codon_SNP	SNP	G	G	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr17:45000561G>A	ENST00000393456.2	+	1	60	c.3G>A	c.(1-3)atG>atA	p.M1I	GOSR2_ENST00000225567.4_Start_Codon_SNP_p.M1I|GOSR2_ENST00000439730.2_Start_Codon_SNP_p.M1I|GOSR2_ENST00000576910.2_Start_Codon_SNP_p.M1I|RNU6ATAC3P_ENST00000387974.1_RNA|RP11-156P1.2_ENST00000571841.1_Start_Codon_SNP_p.M1I|GOSR2_ENST00000415811.2_Start_Codon_SNP_p.M1I|GOSR2_ENST00000575949.1_Start_Codon_SNP_p.M1I|RP11-63A1.1_ENST00000572349.1_lincRNA	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	1					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CCGGCGACATGGATCCCCTGT	0.701																																					p.M1I		Atlas-SNP	.											.	GOSR2	38	.	0			c.G3A						.						13.0	16.0	15.0					17																	45000561		1732	3223	4955	SO:0001582	initiator_codon_variant	9570	exon1			CGACATGGATCCC	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.3G>A	chr17.hg19:g.45000561G>A	ENSP00000377101:p.Met1Ile	210.0	0.0		64.0	19.0	NM_001012511	D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	hg19	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844129	0.71488	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.74421	-0.45;-0.36;-0.84;-0.29	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	.	.	.	0.80722	D	1	P;B;P;P	0.51449	0.819;0.32;0.887;0.945	B;B;B;P	0.46339	0.245;0.109;0.336;0.513	T	0.77062	-0.2727	9	0.56958	D	0.05	-19.0383	13.9538	0.64135	0.0:0.0:1.0:0.0	.	1;1;1;1	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	I	1	ENSP00000225567:M1I;ENSP00000377101:M1I;ENSP00000394559:M1I;ENSP00000390577:M1I	ENSP00000225567:M1I	M	+	3	0	GOSR2	42355560	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	4.367000	0.59498	2.746000	0.94184	0.655000	0.94253	ATG	.	.		0.701	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1		Missense_Mutation
AANAT	15	hgsc.bcm.edu	37	17	74465363	74465363	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr17:74465363T>A	ENST00000392492.3	+	3	506	c.272T>A	c.(271-273)gTg>gAg	p.V91E	AANAT_ENST00000250615.3_Missense_Mutation_p.V136E	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	91	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						GGCTGCCTTGTGGCCTTCATC	0.627																																					p.V136E		Atlas-SNP	.											.	AANAT	7	.	0			c.T407A						.						133.0	134.0	134.0					17																	74465363		2203	4300	6503	SO:0001583	missense	15	exon6			GCCTTGTGGCCTT	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"""serotonin N-acetyltransferase"""	600950	"""arylalkylamine N-acetyltransferase"""			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.272T>A	chr17.hg19:g.74465363T>A	ENSP00000376282:p.Val91Glu	133.0	0.0		50.0	19.0	NM_001166579	A0AVF2|J3KMZ5|Q562F4	Missense_Mutation	SNP	ENST00000392492.3	hg19	CCDS11745.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293262	0.80914	.	.	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.32023	1.47;1.47	4.98	3.9	0.45041	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.056648	0.64402	D	0.000001	T	0.58609	0.2134	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.63395	-0.6647	10	0.87932	D	0	-13.3083	10.3711	0.44055	0.0:0.0777:0.0:0.9223	.	91	Q16613	SNAT_HUMAN	E	136;91	ENSP00000250615:V136E;ENSP00000376282:V91E	ENSP00000250615:V136E	V	+	2	0	AANAT	71976958	1.000000	0.71417	0.867000	0.34043	0.868000	0.49771	4.741000	0.62095	0.755000	0.32990	0.379000	0.24179	GTG	.	.		0.627	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	NM_001088	
RNF213	57674	hgsc.bcm.edu	37	17	78328357	78328357	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr17:78328357C>A	ENST00000582970.1	+	36	10986	c.10843C>A	c.(10843-10845)Cag>Aag	p.Q3615K	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.Q3664K|RNF213_ENST00000336301.6_Missense_Mutation_p.Q1688K|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3615					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)			GGACGCTCTCCAGGAGGCGGG	0.552																																					p.Q3615K		Atlas-SNP	.											.	RNF213	766	.	0			c.C10843A						.						52.0	49.0	50.0					17																	78328357		2203	4300	6503	SO:0001583	missense	57674	exon36			GCTCTCCAGGAGG	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.10843C>A	chr17.hg19:g.78328357C>A	ENSP00000464087:p.Gln3615Lys	73.0	0.0		41.0	9.0	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	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442249	0.43326	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.27402	1.67	4.93	4.93	0.64822	.	0.061356	0.64402	D	0.000002	T	0.60676	0.2287	M	0.82323	2.585	0.40522	D	0.980849	D;D	0.89917	1.0;0.998	D;P	0.87578	0.998;0.872	T	0.67795	-0.5578	10	0.59425	D	0.04	.	18.1568	0.89694	0.0:1.0:0.0:0.0	.	3664;1688	C9JCP4;Q63HN8	.;RN213_HUMAN	K	3615;3664;1688	ENSP00000338218:Q1688K	ENSP00000338218:Q1688K	Q	+	1	0	RNF213	75942952	1.000000	0.71417	0.933000	0.37362	0.689000	0.40095	6.771000	0.74996	2.288000	0.76882	0.650000	0.86243	CAG	.	.		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
LAMA1	284217	hgsc.bcm.edu	37	18	7017348	7017348	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr18:7017348C>A	ENST00000389658.3	-	20	2830	c.2737G>T	c.(2737-2739)Gtg>Ttg	p.V913L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	913	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGATGGCACACGGCAGAATGG	0.478																																					p.V913L		Atlas-SNP	.											.	LAMA1	458	.	0			c.G2737T						.						159.0	122.0	134.0					18																	7017348		2203	4300	6503	SO:0001583	missense	284217	exon20			GGCACACGGCAGA	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2737G>T	chr18.hg19:g.7017348C>A	ENSP00000374309:p.Val913Leu	91.0	0.0		21.0	11.0	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	hg19	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	7.105	0.574830	0.13623	.	.	ENSG00000101680	ENST00000389658	T	0.61392	0.11	5.5	-0.263	0.12954	EGF-like, laminin (3);	0.569558	0.17079	N	0.187875	T	0.39064	0.1064	L	0.38531	1.155	0.09310	N	1	B	0.17465	0.022	B	0.20577	0.03	T	0.19095	-1.0316	10	0.18276	T	0.48	.	5.8486	0.18679	0.0:0.3242:0.1401:0.5357	.	913	P25391	LAMA1_HUMAN	L	913	ENSP00000374309:V913L	ENSP00000374309:V913L	V	-	1	0	LAMA1	7007348	0.000000	0.05858	0.065000	0.19835	0.225000	0.24961	-0.794000	0.04584	0.023000	0.15187	-0.158000	0.13435	GTG	.	.		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
PSG1	5669	hgsc.bcm.edu	37	19	43382065	43382065	+	Splice_Site	SNP	G	G	A	rs545006367		TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr19:43382065G>A	ENST00000436291.2	-	2	546	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	PSG1_ENST00000244296.2_Splice_Site_p.L144L|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595124.1_Splice_Site_p.P144S|PSG1_ENST00000403380.3_Splice_Site_p.P144S|PSG1_ENST00000312439.6_Splice_Site_p.L144L|PSG1_ENST00000595356.1_Splice_Site_p.L144L	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	144	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AATCACTTACGGTGTAAGGTG	0.522													.|||	1	0.000199681	0.0	0.0	5008	,	,		19792	0.0		0.0	False		,,,				2504	0.001				p.L144L		Atlas-SNP	.											.	PSG1	196	.	0			c.C430T						.						278.0	246.0	257.0					19																	43382065		2201	4299	6500	SO:0001630	splice_region_variant	5669	exon2			ACTTACGGTGTAA		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.430+1C>T	chr19.hg19:g.43382065G>A		182.0	0.0		46.0	10.0	NM_001184826	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	hg19	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	1.997	-0.430475	0.04669	.	.	ENSG00000231924	ENST00000403380	T	0.00808	5.67	1.64	-3.28	0.05033	.	.	.	.	.	T	0.00608	0.0020	.	.	.	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.004	T	0.51608	-0.8684	7	.	.	.	.	4.5493	0.12105	0.1581:0.4279:0.414:0.0	.	144;144	G5E9F7;Q8NBY8	.;.	S	144	ENSP00000385386:P144S	.	P	-	1	0	PSG1	48073905	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.768000	0.04715	-0.682000	0.05197	-2.968000	0.00081	CCG	.	.		0.522	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		Silent
ZNF667	63934	hgsc.bcm.edu	37	19	56952618	56952618	+	Silent	SNP	G	G	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr19:56952618G>A	ENST00000504904.3	-	7	2465	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	ZNF667_ENST00000292069.6_Silent_p.P582P|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.P710P			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TACATTCATAGGGTTTCTCTG	0.393																																					p.P582P		Atlas-SNP	.											.	ZNF667	95	.	0			c.C1746T						.						119.0	115.0	116.0					19																	56952618		2203	4300	6503	SO:0001819	synonymous_variant	63934	exon5			TTCATAGGGTTTC		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1746C>T	chr19.hg19:g.56952618G>A		95.0	0.0		29.0	11.0	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	hg19	CCDS12944.1																																																																																			.	.		0.393	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
PCED1A	64773	hgsc.bcm.edu	37	20	2819099	2819099	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr20:2819099C>A	ENST00000360652.2	-	6	1122	c.620G>T	c.(619-621)cGg>cTg	p.R207L	VPS16_ENST00000380445.3_5'Flank|VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R156L	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	207																	CACATCCCGCCGCAGGGAGCC	0.572																																					p.R207L		Atlas-SNP	.											.	.	.	.	0			c.G620T						.						57.0	61.0	59.0					20																	2819099		2203	4300	6503	SO:0001583	missense	64773	exon6			TCCCGCCGCAGGG	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.620G>T	chr20.hg19:g.2819099C>A	ENSP00000353868:p.Arg207Leu	78.0	0.0		23.0	11.0	NM_022760	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	hg19	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436922	0.43224	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	4.14	3.19	0.36642	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.075463	0.52532	D	0.000063	T	0.35278	0.0926	L	0.61387	1.9	0.58432	D	0.999995	D;D;D;D	0.89917	0.974;1.0;0.999;0.99	P;D;D;D	0.91635	0.643;0.999;0.997;0.909	T	0.08249	-1.0731	10	0.87932	D	0	-12.4744	9.7095	0.40236	0.0:0.896:0.0:0.104	.	156;203;54;207	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	L	156;207;156;207	ENSP00000349334:R156L;ENSP00000353868:R207L;ENSP00000388935:R156L;ENSP00000401711:R207L	ENSP00000349334:R156L	R	-	2	0	FAM113A	2767099	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	2.953000	0.49105	1.090000	0.41315	0.563000	0.77884	CGG	.	.		0.572	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760	
PAK7	57144	hgsc.bcm.edu	37	20	9546904	9546904	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr20:9546904T>A	ENST00000378429.3	-	6	1664	c.1118A>T	c.(1117-1119)tAc>tTc	p.Y373F	PAK7_ENST00000353224.5_Missense_Mutation_p.Y373F|PAK7_ENST00000378423.1_Missense_Mutation_p.Y373F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	373	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCAGACGGGTACTGGTGACT	0.577																																					p.Y373F		Atlas-SNP	.											.	PAK7	194	.	0			c.A1118T						.						184.0	178.0	180.0					20																	9546904		2203	4300	6503	SO:0001583	missense	57144	exon5			GACGGGTACTGGT	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1118A>T	chr20.hg19:g.9546904T>A	ENSP00000367686:p.Tyr373Phe	52.0	0.0		20.0	9.0	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	hg19	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.485918	0.26686	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.29142	1.58;1.58;1.58	5.94	4.81	0.61882	.	0.105803	0.64402	D	0.000002	T	0.37265	0.0997	L	0.43152	1.355	0.46203	D	0.99892	D;B	0.63880	0.993;0.0	P;B	0.52957	0.714;0.001	T	0.05099	-1.0906	9	.	.	.	.	13.154	0.59505	0.0:0.0:0.1335:0.8665	.	373;373	B0AZM9;Q9P286	.;PAK7_HUMAN	F	373;373;373;321	ENSP00000367686:Y373F;ENSP00000322957:Y373F;ENSP00000367679:Y373F	.	Y	-	2	0	PAK7	9494904	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	2.468000	0.45102	1.031000	0.39867	0.482000	0.46254	TAC	.	.		0.577	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
SLC2A10	81031	hgsc.bcm.edu	37	20	45354541	45354541	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr20:45354541G>A	ENST00000359271.2	+	2	1116	c.866G>A	c.(865-867)gGg>gAg	p.G289E		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	289					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ACCGCCATGGGGCTGGTGGAC	0.652																																					p.G289E		Atlas-SNP	.											.	SLC2A10	75	.	0			c.G866A						.						91.0	87.0	89.0					20																	45354541		2203	4300	6503	SO:0001583	missense	81031	exon2			CCATGGGGCTGGT	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.866G>A	chr20.hg19:g.45354541G>A	ENSP00000352216:p.Gly289Glu	118.0	0.0		25.0	12.0	NM_030777	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	hg19	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730922	0.30684	.	.	ENSG00000197496	ENST00000359271	T	0.74106	-0.81	5.76	3.8	0.43715	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.408064	0.28021	N	0.016918	T	0.70254	0.3203	M	0.67397	2.05	0.34626	D	0.719087	B	0.14012	0.009	B	0.17433	0.018	T	0.70633	-0.4818	10	0.33141	T	0.24	-11.7486	11.0217	0.47722	0.071:0.2991:0.6299:0.0	.	289	O95528	GTR10_HUMAN	E	289	ENSP00000352216:G289E	ENSP00000352216:G289E	G	+	2	0	SLC2A10	44787948	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.920000	0.40025	0.775000	0.33450	0.655000	0.94253	GGG	.	.		0.652	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		
ZNF70	7621	hgsc.bcm.edu	37	22	24086004	24086004	+	Missense_Mutation	SNP	A	A	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr22:24086004A>T	ENST00000341976.3	-	2	1784	c.1324T>A	c.(1324-1326)Tct>Act	p.S442T		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCTCCCCAGAATGAATCTTC	0.537																																					p.S442T		Atlas-SNP	.											.	ZNF70	49	.	0			c.T1324A						.						105.0	111.0	109.0					22																	24086004		2203	4300	6503	SO:0001583	missense	7621	exon2			CCCCAGAATGAAT	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1324T>A	chr22.hg19:g.24086004A>T	ENSP00000339314:p.Ser442Thr	166.0	0.0		40.0	23.0	NM_021916		Missense_Mutation	SNP	ENST00000341976.3	hg19	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.471305	0.01044	.	.	ENSG00000187792	ENST00000341976	T	0.07688	3.17	3.55	2.53	0.30540	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	N	0.01529	-0.815	0.22142	N	0.999333	B	0.02656	0.0	B	0.01281	0.0	T	0.45731	-0.9241	9	0.02654	T	1	.	4.3065	0.10949	0.2421:0.6393:0.0:0.1186	.	442	Q9UC06	ZNF70_HUMAN	T	442	ENSP00000339314:S442T	ENSP00000339314:S442T	S	-	1	0	ZNF70	22416004	0.000000	0.05858	0.482000	0.27366	0.419000	0.31324	-1.198000	0.03035	1.068000	0.40764	-0.406000	0.06334	TCT	.	.		0.537	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916	
MID1IP1	58526	hgsc.bcm.edu	37	X	38664209	38664209	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chrX:38664209A>G	ENST00000336949.6	+	2	955	c.10A>G	c.(10-12)Atc>Gtc	p.I4V	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000457894.1_Missense_Mutation_p.I4V|MID1IP1_ENST00000378474.3_Missense_Mutation_p.I4V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	4					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CATGATGCAAATCTGCGACAC	0.617																																					p.I4V		Atlas-SNP	.											.	MID1IP1	12	.	0			c.A10G						.						102.0	71.0	81.0					X																	38664209		2202	4300	6502	SO:0001583	missense	58526	exon2			ATGCAAATCTGCG		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.10A>G	chrX.hg19:g.38664209A>G	ENSP00000338706:p.Ile4Val	183.0	0.0		49.0	39.0	NM_021242	D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	hg19	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015428	0.54468	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	3.4	0.38934	.	0.270105	0.31370	N	0.007779	T	0.40448	0.1117	L	0.34521	1.04	0.42072	D	0.991211	P	0.39094	0.659	B	0.38921	0.285	T	0.31696	-0.9934	9	0.72032	D	0.01	0.3579	8.5973	0.33723	0.9052:0.0:0.0948:0.0	.	4	Q9NPA3	M1IP1_HUMAN	V	4	.	ENSP00000338706:I4V	I	+	1	0	MID1IP1	38549153	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	2.989000	0.49393	0.608000	0.30000	0.430000	0.28490	ATC	.	.		0.617	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1		
RGAG1	57529	hgsc.bcm.edu	37	X	109695030	109695030	+	Silent	SNP	T	T	A			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chrX:109695030T>A	ENST00000465301.2	+	3	1431	c.1185T>A	c.(1183-1185)tcT>tcA	p.S395S	RGAG1_ENST00000540313.1_Silent_p.S395S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	395										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAACAGCCTCTGGGGTGATGT	0.512																																					p.S395S		Atlas-SNP	.											.	RGAG1	168	.	0			c.T1185A						.						187.0	196.0	193.0					X																	109695030		2203	4300	6503	SO:0001819	synonymous_variant	57529	exon3			AGCCTCTGGGGTG	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1185T>A	chrX.hg19:g.109695030T>A		57.0	0.0		17.0	12.0	NM_020769	Q9P2M8	Silent	SNP	ENST00000465301.2	hg19	CCDS14552.1																																																																																			.	.		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
ZNF185	7739	hgsc.bcm.edu	37	X	152106689	152106689	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chrX:152106689C>T	ENST00000370268.4	+	15	1227	c.1190C>T	c.(1189-1191)gCa>gTa	p.A397V	ZNF185_ENST00000449285.2_Missense_Mutation_p.A398V|ZNF185_ENST00000324823.6_Missense_Mutation_p.A165V|ZNF185_ENST00000370270.2_Missense_Mutation_p.A429V|ZNF185_ENST00000539731.1_Missense_Mutation_p.A400V|ZNF185_ENST00000318529.8_Missense_Mutation_p.A176V|ZNF185_ENST00000318504.7_Missense_Mutation_p.A338V|ZNF185_ENST00000535861.1_Missense_Mutation_p.A429V			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	397						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGAGGATGCAAAGGCAGAC	0.572																																					p.A429V		Atlas-SNP	.											.	ZNF185	92	.	0			c.C1286T						.						54.0	55.0	55.0					X																	152106689		2105	4186	6291	SO:0001583	missense	7739	exon16			AGGATGCAAAGGC	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1190C>T	chrX.hg19:g.152106689C>T	ENSP00000359291:p.Ala397Val	102.0	0.0		33.0	26.0	NM_001178106	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	hg19	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	C	4.286	0.052232	0.08291	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	3.52	-4.25	0.03766	.	2.230900	0.02245	N	0.066102	T	0.25419	0.0618	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B	0.17667	0.004;0.023;0.001;0.002;0.004;0.004;0.003;0.017	B;B;B;B;B;B;B;B	0.15484	0.004;0.013;0.002;0.004;0.004;0.004;0.007;0.005	T	0.24870	-1.0148	10	0.02654	T	1	4.8009	2.39	0.04376	0.1413:0.497:0.1392:0.2226	.	398;338;368;400;429;397;176;160	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;F8W8V7;O15231-2	.;.;.;.;.;ZN185_HUMAN;.;.	V	429;400;398;338;232;165;263;397;176;160;102	ENSP00000440847:A429V;ENSP00000444367:A400V;ENSP00000395228:A398V;ENSP00000312782:A338V;ENSP00000359291:A397V	ENSP00000312782:A338V	A	+	2	0	ZNF185	151857345	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.805000	0.01737	-1.312000	0.02306	0.600000	0.82982	GCA	.	.		0.572	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	
ALPP	250	hgsc.bcm.edu	37	2	233245689	233245690	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr2:233245689_233245690insT	ENST00000392027.2	+	9	1409_1410	c.1140_1141insT	c.(1141-1143)tccfs	p.S381fs	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	381					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTGCCGACCACTCCCACGTCTT	0.629																																					p.H380fs		Atlas-INDEL	.											.	ALPP	53	.	0			c.1140_1141insT						.																																			SO:0001589	frameshift_variant	250	exon9			.	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1141dupT	chr2.hg19:g.233245690_233245690dupT	ENSP00000375881:p.Ser381fs	261.0	0.0		67.0	14.0	NM_001632	P05188|P06861|Q53S78|Q96DB7	Frame_Shift_Ins	INS	ENST00000392027.2	hg19	CCDS2490.1																																																																																			.	.		0.629	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632	
YME1L1	10730	hgsc.bcm.edu	37	10	27436456	27436456	+	Frame_Shift_Del	DEL	G	G	-	rs369706082		TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr10:27436456delG	ENST00000326799.3	-	3	458	c.310delC	c.(310-312)cgtfs	p.R104fs	YME1L1_ENST00000477432.1_Frame_Shift_Del_p.R104fs|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	104					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGTTCTGGACGGAtgtgccag	0.448																																					p.R104fs		Atlas-Indel,Pindel	.											.	YME1L1	71	.	0			c.311delG						.						221.0	176.0	191.0					10																	27436456		2203	4300	6503	SO:0001589	frameshift_variant	10730	exon3			.	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.310delC	chr10.hg19:g.27436456delG	ENSP00000318480:p.Arg104fs	283.0	0.0		90.0	43.0	NM_139312	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Frame_Shift_Del	DEL	ENST00000326799.3	hg19	CCDS7152.1																																																																																			.	.		0.448	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312	
LOXHD1	125336	hgsc.bcm.edu	37	18	44089715	44089715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr18:44089715delC	ENST00000398722.4	-	28	4628	c.4629delG	c.(4627-4629)aagfs	p.K1543fs	LOXHD1_ENST00000536736.1_Frame_Shift_Del_p.K1759fs|LOXHD1_ENST00000300591.6_Frame_Shift_Del_p.K710fs|LOXHD1_ENST00000398705.2_Frame_Shift_Del_p.K60fs|LOXHD1_ENST00000441551.2_Frame_Shift_Del_p.K1615fs|LOXHD1_ENST00000398686.4_Frame_Shift_Del_p.K60fs|LOXHD1_ENST00000441893.2_Frame_Shift_Del_p.K692fs|LOXHD1_ENST00000582408.1_Frame_Shift_Del_p.K648fs|LOXHD1_ENST00000579038.1_Frame_Shift_Del_p.K614fs			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1543	PLAT 11. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GGATCCGCATCTTGGTGAATG	0.572																																					p.M1760fs		Atlas-Indel,Pindel	.											.	LOXHD1	367	.	0			c.5278delA						.						116.0	125.0	122.0					18																	44089715		692	1591	2283	SO:0001589	frameshift_variant	125336	exon34			.	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.4629delG	chr18.hg19:g.44089715delC	ENSP00000381707:p.Lys1543fs	169.0	0.0		46.0	18.0	NM_144612	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Frame_Shift_Del	DEL	ENST00000398722.4	hg19																																																																																				.	.		0.572	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
MFSD6	54842	hgsc.bcm.edu	37	2	191301480	191301501	+	Frame_Shift_Del	DEL	TGAACTCAAGCACAGCAACCCC	TGAACTCAAGCACAGCAACCCC	-	rs201082615|rs147259731|rs184975766	byFrequency	TCGA-EP-A2KC-01A-11D-A20W-10	TCGA-EP-A2KC-10A-01D-A20W-10	TGAACTCAAGCACAGCAACCCC	TGAACTCAAGCACAGCAACCCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0fa04a7-a506-4a22-b41f-ee8b13a9d83c	da91c6e7-c91e-4c80-bb15-8e0cd4881866	g.chr2:191301480_191301501delTGAACTCAAGCACAGCAACCCC	ENST00000392328.1	+	3	1049_1070	c.725_746delTGAACTCAAGCACAGCAACCCC	c.(724-747)ttgaactcaagcacagcaacccctfs	p.LNSSTATP242fs	MFSD6_ENST00000281416.7_Frame_Shift_Del_p.LNSSTATP242fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	242					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GACTTGACTTTGAACTCAAGCACAGCAACCCCTGTCTCCCCA	0.459																																					p.242_249del		Pindel	.											.	MFSD6	58	.	0			c.724_745del						.																																			SO:0001589	frameshift_variant	54842	exon3			.		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.725_746delTGAACTCAAGCACAGCAACCCC	chr2.hg19:g.191301480_191301501delTGAACTCAAGCACAGCAACCCC	ENSP00000376141:p.Leu242fs	0.0	0.0		12.0	12.0	NM_017694	D3KSZ4|Q86TH2|Q9NXM3	Frame_Shift_Del	DEL	ENST00000392328.1	hg19	CCDS2306.1																																																																																			.	.		0.459	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1		
