#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
PRKCZ	5590	hgsc.bcm.edu	37	1	2082320	2082320	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:2082320G>A	ENST00000400921.2	+	6	913	c.230G>A	c.(229-231)cGc>cAc	p.R77H	PRKCZ_ENST00000400920.1_Missense_Mutation_p.R77H|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	260	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R260H(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	GTCATCGGGCGCGGGAGCTAC	0.512																																					p.R260H		Atlas-SNP	.											PRKCZ_ENST00000378567,colon,carcinoma,+1,1	PRKCZ	84	.	1	Substitution - Missense(1)	central_nervous_system(1)	c.G779A						.						79.0	77.0	78.0					1																	2082320		2203	4300	6503	SO:0001583	missense	5590	exon9			TCGGGCGCGGGAG	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.230G>A	chr1.hg19:g.2082320G>A	ENSP00000383712:p.Arg77His	113.0	0.0		63.0	42.0	NM_002744	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	hg19	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747721	0.89663	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000497183	T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;1.88;-0.24;-0.24;-0.24;-0.24	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.82908	-0.0224	10	0.87932	D	0	.	17.0179	0.86424	0.0:0.0:1.0:0.0	.	156;84;260	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	H	260;77;156;77;77;73;77;77;73	ENSP00000367830:R260H;ENSP00000383712:R77H;ENSP00000426412:R156H;ENSP00000424228:R77H;ENSP00000383711:R77H;ENSP00000424763:R73H;ENSP00000421219:R77H;ENSP00000422764:R73H	ENSP00000367830:R260H	R	+	2	0	PRKCZ	2072180	1.000000	0.71417	0.987000	0.45799	0.679000	0.39708	8.977000	0.93446	2.493000	0.84123	0.591000	0.81541	CGC	.	.		0.512	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744	
CELA2A	63036	hgsc.bcm.edu	37	1	15793937	15793937	+	Silent	SNP	C	C	T	rs201638508		TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:15793937C>T	ENST00000359621.4	+	7	721	c.696C>T	c.(694-696)caC>caT	p.H232H	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	232	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGCAGGTGCACGGCATCGTCA	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		16971	0.001		0.0	False		,,,				2504	0.0				p.H232H		Atlas-SNP	.											.	CELA2A	32	.	0			c.C696T						.	T		0,4406		0,0,2203	71.0	67.0	68.0		696	-1.5	0.4	1		68	1,8599	818.9+/-406.8	0,1,4299	no	coding-synonymous	CELA2A	NM_033440.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		232/270	15793937	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63036	exon7			GGTGCACGGCATC		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.696C>T	chr1.hg19:g.15793937C>T		79.0	0.0		65.0	40.0	NM_033440	B2R5I4|Q14243	Silent	SNP	ENST00000359621.4	hg19	CCDS157.1																																																																																			.	C|0.999;T|0.001		0.592	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440	
DENND2D	79961	hgsc.bcm.edu	37	1	111730233	111730233	+	Silent	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:111730233C>T	ENST00000357640.4	-	12	1639	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V	RP5-1180E21.5_ENST00000610049.1_RNA|DENND2D_ENST00000369752.5_Silent_p.V467V	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	470					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GCTCTTATTTCACAGTTTTTT	0.433																																					p.V470V		Atlas-SNP	.											.	DENND2D	50	.	0			c.G1410A						.						244.0	202.0	216.0					1																	111730233		2202	4300	6502	SO:0001819	synonymous_variant	79961	exon12			TTATTTCACAGTT		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1410G>A	chr1.hg19:g.111730233C>T		81.0	0.0		151.0	72.0	NM_024901	Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	hg19	CCDS831.1																																																																																			.	.		0.433	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	
ADORA3	140	hgsc.bcm.edu	37	1	112042811	112042811	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:112042811C>T	ENST00000241356.4	-	2	1123	c.718G>A	c.(718-720)Gct>Act	p.A240T	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	240					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CATGACAGAGCAAACAAGAAA	0.448																																					p.A240T		Atlas-SNP	.											ADORA3,colon,carcinoma,0,1	ADORA3	104	.	0			c.G718A						.						127.0	123.0	124.0					1																	112042811		2203	4300	6503	SO:0001583	missense	140	exon2			ACAGAGCAAACAA	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.718G>A	chr1.hg19:g.112042811C>T	ENSP00000241356:p.Ala240Thr	197.0	0.0		238.0	105.0	NM_000677	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	hg19	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703716	0.68501	.	.	ENSG00000121933	ENST00000241356	T	0.72394	-0.65	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.52338	0.1728	L	0.43757	1.38	0.45015	D	0.99803	B	0.14805	0.011	B	0.25614	0.062	T	0.51164	-0.8740	9	0.20519	T	0.43	.	18.0377	0.89309	0.0:1.0:0.0:0.0	.	240	P33765	AA3R_HUMAN	T	240	ENSP00000241356:A240T	ENSP00000241356:A240T	A	-	1	0	ADORA3	111844334	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	7.442000	0.80503	2.431000	0.82371	0.650000	0.86243	GCT	.	.		0.448	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683	
SWT1	54823	hgsc.bcm.edu	37	1	185259914	185259914	+	Silent	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:185259914C>T	ENST00000367500.4	+	19	2847	c.2682C>T	c.(2680-2682)gaC>gaT	p.D894D	SWT1_ENST00000367501.3_Silent_p.D894D	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	894										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GGTGTGAAGACATGCTCAACT	0.398																																					p.D894D		Atlas-SNP	.											.	SWT1	88	.	0			c.C2682T						.						91.0	89.0	90.0					1																	185259914		2203	4300	6503	SO:0001819	synonymous_variant	54823	exon19			TGAAGACATGCTC	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2682C>T	chr1.hg19:g.185259914C>T		97.0	0.0		183.0	32.0	NM_017673	Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	hg19	CCDS1367.1																																																																																			.	.		0.398	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
HMCN1	83872	hgsc.bcm.edu	37	1	185892673	185892673	+	Silent	SNP	T	T	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:185892673T>A	ENST00000271588.4	+	8	1402	c.1173T>A	c.(1171-1173)atT>atA	p.I391I	HMCN1_ENST00000367492.2_Silent_p.I391I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	391					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATGGAATATTTCTGACTTTG	0.343																																					p.I391I		Atlas-SNP	.											.	HMCN1	797	.	0			c.T1173A						.						122.0	121.0	122.0					1																	185892673		2203	4299	6502	SO:0001819	synonymous_variant	83872	exon8			GAATATTTCTGAC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1173T>A	chr1.hg19:g.185892673T>A		102.0	0.0		166.0	28.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																			.	.		0.343	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
DDX59	83479	hgsc.bcm.edu	37	1	200635154	200635154	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:200635154G>T	ENST00000331314.6	-	2	928	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	DDX59_ENST00000447706.2_Missense_Mutation_p.L239M|DDX59_ENST00000367348.3_Missense_Mutation_p.L239M	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	239	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCTCTTCCCAGAAGTCCCACA	0.438																																					p.L239M		Atlas-SNP	.											.	DDX59	117	.	0			c.C715A						.						115.0	116.0	116.0					1																	200635154		2203	4300	6503	SO:0001583	missense	83479	exon2			TTCCCAGAAGTCC	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.715C>A	chr1.hg19:g.200635154G>T	ENSP00000330460:p.Leu239Met	243.0	0.0		389.0	90.0	NM_001031725	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	hg19	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773351	0.31411	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.14893	2.47;2.47;2.47	5.33	4.21	0.49690	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.207232	0.40144	N	0.001175	T	0.12603	0.0306	N	0.25380	0.74	0.27310	N	0.957321	B;B	0.22414	0.069;0.04	B;B	0.31016	0.123;0.048	T	0.09357	-1.0678	10	0.48119	T	0.1	-11.577	7.4454	0.27209	0.1253:0.0:0.7067:0.168	.	239;239	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	M	239	ENSP00000394367:L239M;ENSP00000356317:L239M;ENSP00000330460:L239M	ENSP00000330460:L239M	L	-	1	2	DDX59	198901777	0.816000	0.29132	0.989000	0.46669	0.998000	0.95712	1.259000	0.32956	2.498000	0.84270	0.650000	0.86243	CTG	.	.		0.438	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4	
FMN2	56776	hgsc.bcm.edu	37	1	240371876	240371876	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:240371876C>G	ENST00000319653.9	+	5	3994	c.3764C>G	c.(3763-3765)cCa>cGa	p.P1255R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1255	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCACTTTACCAACCCCACAG	0.562																																					p.P1255R		Atlas-SNP	.											.	FMN2	451	.	0			c.C3764G						.						65.0	60.0	62.0					1																	240371876		2203	4300	6503	SO:0001583	missense	56776	exon5			CTTTACCAACCCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3764C>G	chr1.hg19:g.240371876C>G	ENSP00000318884:p.Pro1255Arg	137.0	0.0		287.0	49.0	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	hg19	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	7.924	0.739169	0.15642	.	.	ENSG00000155816	ENST00000319653	T	0.65732	-0.17	4.6	3.67	0.42095	Actin-binding FH2 (1);Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.540328	0.15894	U	0.239405	T	0.58047	0.2095	M	0.61703	1.905	0.19575	N	0.999964	P	0.38395	0.629	B	0.41619	0.361	T	0.51513	-0.8696	9	.	.	.	.	5.3112	0.15831	0.1668:0.6673:0.0:0.1659	.	1255	Q9NZ56	FMN2_HUMAN	R	1255	ENSP00000318884:P1255R	.	P	+	2	0	FMN2	238438499	0.764000	0.28473	0.014000	0.15608	0.596000	0.36781	3.296000	0.51802	0.893000	0.36288	0.472000	0.43445	CCA	.	.		0.562	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
ZNF638	27332	hgsc.bcm.edu	37	2	71577248	71577248	+	Silent	SNP	G	G	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr2:71577248G>A	ENST00000409544.1	+	2	1794	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	ZNF638_ENST00000355812.3_Silent_p.V388V|ZNF638_ENST00000264447.4_Silent_p.V388V|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.V388V	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	388					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTGGTATTGTGAAAGCATCCT	0.408																																					p.V388V		Atlas-SNP	.											.	ZNF638	179	.	0			c.G1164A						.						141.0	137.0	138.0					2																	71577248		2203	4300	6503	SO:0001819	synonymous_variant	27332	exon2			TATTGTGAAAGCA	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1164G>A	chr2.hg19:g.71577248G>A		68.0	0.0		55.0	21.0	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	hg19	CCDS1917.1																																																																																			.	.		0.408	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
VWA3B	200403	hgsc.bcm.edu	37	2	98887262	98887262	+	Silent	SNP	C	C	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr2:98887262C>A	ENST00000477737.1	+	22	3165	c.2961C>A	c.(2959-2961)atC>atA	p.I987I	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	987										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAGTGAAATCCTAGCTGGGA	0.483																																					p.I987I		Atlas-SNP	.											.	VWA3B	138	.	0			c.C2961A						.						135.0	133.0	134.0					2																	98887262		1863	4104	5967	SO:0001819	synonymous_variant	200403	exon22			TGAAATCCTAGCT	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2961C>A	chr2.hg19:g.98887262C>A		378.0	1.0		407.0	151.0	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	4.661	0.122892	0.08931	.	.	ENSG00000168658	ENST00000473149	.	.	.	4.82	3.94	0.45596	.	.	.	.	.	T	0.56247	0.1972	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52873	-0.8517	4	.	.	.	.	7.0936	0.25297	0.0:0.8025:0.0:0.1975	.	.	.	.	T	398	.	.	P	+	1	0	VWA3B	98253694	0.987000	0.35691	0.957000	0.39632	0.556000	0.35491	0.267000	0.18552	1.252000	0.44001	0.655000	0.94253	CCT	.	.		0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
RAB3GAP1	22930	hgsc.bcm.edu	37	2	135809890	135809890	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr2:135809890A>G	ENST00000264158.8	+	1	56	c.13A>G	c.(13-15)Agt>Ggt	p.S5G	RAB3GAP1_ENST00000539493.1_5'UTR|RAB3GAP1_ENST00000425393.1_Missense_Mutation_p.S5G|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S5G	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	5					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GGCTGCCGACAGTGAGGTGAT	0.582																																					p.S5G		Atlas-SNP	.											.	RAB3GAP1	87	.	0			c.A13G						.						98.0	89.0	92.0					2																	135809890		2203	4300	6503	SO:0001583	missense	22930	exon1			GCCGACAGTGAGG	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.13A>G	chr2.hg19:g.135809890A>G	ENSP00000264158:p.Ser5Gly	104.0	0.0		86.0	30.0	NM_001172435	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	hg19	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093703	0.56075	.	.	ENSG00000115839	ENST00000264158;ENST00000442034;ENST00000425393	T;T	0.47528	0.84;0.87	4.37	3.22	0.36961	.	0.048805	0.85682	N	0.000000	T	0.36303	0.0962	L	0.34521	1.04	0.80722	D	1	P;P	0.52170	0.951;0.882	P;B	0.46026	0.501;0.404	T	0.05666	-1.0871	10	0.26408	T	0.33	-2.4557	7.5345	0.27702	0.8992:0.0:0.1008:0.0	.	5;5	C9J837;Q15042	.;RB3GP_HUMAN	G	5	ENSP00000264158:S5G;ENSP00000411418:S5G	ENSP00000264158:S5G	S	+	1	0	RAB3GAP1	135526360	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	4.566000	0.60843	0.837000	0.34925	0.408000	0.27601	AGT	.	.		0.582	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	
FN1	2335	hgsc.bcm.edu	37	2	216241231	216241231	+	Silent	SNP	G	G	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr2:216241231G>A	ENST00000359671.1	-	35	5869	c.5604C>T	c.(5602-5604)taC>taT	p.Y1868Y	FN1_ENST00000336916.4_Silent_p.Y1868Y|FN1_ENST00000346544.3_Silent_p.Y1868Y|FN1_ENST00000357009.2_Silent_p.Y1868Y|FN1_ENST00000421182.1_Silent_p.Y1778Y|FN1_ENST00000345488.5_Silent_p.Y1868Y|FN1_ENST00000357867.4_Silent_p.Y1778Y|FN1_ENST00000446046.1_Silent_p.Y1868Y|FN1_ENST00000443816.1_Silent_p.Y1778Y|FN1_ENST00000356005.4_Silent_p.Y1778Y|FN1_ENST00000354785.4_Silent_p.Y1959Y|FN1_ENST00000323926.6_Silent_p.Y1959Y|FN1_ENST00000432072.2_Silent_p.Y1869Y|FN1_ENST00000490833.1_5'Flank			P02751	FINC_HUMAN	fibronectin 1	1868	Binds to FBLN1.|Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGTGATGGTGTAGCTTCTGA	0.458																																					p.Y1959Y		Atlas-SNP	.											FN1_ENST00000354785,NS,carcinoma,0,2	FN1	521	.	0			c.C5877T						.						199.0	159.0	173.0					2																	216241231		2203	4300	6503	SO:0001819	synonymous_variant	2335	exon36			GATGGTGTAGCTT		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5604C>T	chr2.hg19:g.216241231G>A		86.0	0.0		92.0	42.0	NM_212482	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	hg19																																																																																				.	.		0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
ABCB6	10058	hgsc.bcm.edu	37	2	220080755	220080755	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr2:220080755G>A	ENST00000265316.3	-	5	1434	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	ABCB6_ENST00000439002.2_Missense_Mutation_p.A327V	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	373	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCGATCCGCGATCCGCAG	0.677																																					p.A373V		Atlas-SNP	.											.	ABCB6	76	.	0			c.C1118T						.						19.0	23.0	22.0					2																	220080755		2201	4300	6501	SO:0001583	missense	10058	exon5			CGATCCGCGATCC	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1118C>T	chr2.hg19:g.220080755G>A	ENSP00000265316:p.Ala373Val	103.0	0.0		96.0	24.0	NM_005689	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	hg19	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.35|10.35	1.326377|1.326377	0.24080|0.24080	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.94376|.	-3.41;-2.3|.	5.08|5.08	3.94|3.94	0.45596|0.45596	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.120411|.	0.56097|.	N|.	0.000027|.	T|T	0.07548|0.07548	0.0190|0.0190	N|N	0.00028|0.00028	-2.63|-2.63	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.17107|0.17107	-1.0380|-1.0380	10|5	0.35671|.	T|.	0.21|.	-15.6538|-15.6538	10.4037|10.4037	0.44243|0.44243	0.9219:0.0:0.078:0.0|0.9219:0.0:0.078:0.0	.|.	327;373|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	V|W	373;327|221	ENSP00000265316:A373V;ENSP00000394333:A327V|.	ENSP00000265316:A373V|.	A|R	-|-	2|1	0|2	ABCB6|ABCB6	219788999|219788999	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.961000|0.961000	0.63080|0.63080	7.120000|7.120000	0.77153|0.77153	1.068000|1.068000	0.40764|0.40764	-0.302000|-0.302000	0.09304|0.09304	GCG|CGG	.	.		0.677	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	
ANKMY1	51281	hgsc.bcm.edu	37	2	241494429	241494429	+	5'UTR	SNP	C	C	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr2:241494429C>A	ENST00000272972.3	-	0	137				ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G143C|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G64C|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G64C|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G17C|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G64C|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G64C|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G64C	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTCAGCGGGCCCTCAGCTTCC	0.587																																					p.G64C		Atlas-SNP	.											.	ANKMY1	112	.	0			c.G190T						.						110.0	112.0	111.0					2																	241494429		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51281	exon3			GCGGGCCCTCAGC	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.-78G>T	chr2.hg19:g.241494429C>A		109.0	0.0		100.0	5.0	NM_017844	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	hg19	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576996	0.28092	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000361678;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000441168;ENST00000411765	T;T;T;T;T;T;T;T	0.57907	2.82;3.5;2.14;2.3;0.37;2.16;2.11;1.44	3.85	2.97	0.34412	.	.	.	.	.	T	0.55955	0.1953	N	0.24115	0.695	0.09310	N	1	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.70935	0.936;0.908;0.971	T	0.44298	-0.9337	9	0.72032	D	0.01	.	9.8639	0.41131	0.0:0.896:0.0:0.104	.	64;64;64	Q6GPI0;B5MBY4;Q9P2S6-2	.;.;.	C	64;64;64;143;64;17;64;17;64	ENSP00000362415:G64C;ENSP00000384555:G64C;ENSP00000355097:G64C;ENSP00000383968:G143C;ENSP00000385887:G64C;ENSP00000444707:G17C;ENSP00000385635:G64C;ENSP00000405938:G17C	ENSP00000355097:G64C	G	-	1	0	ANKMY1	241143102	0.003000	0.15002	0.044000	0.18714	0.073000	0.16967	0.919000	0.28692	1.200000	0.43188	0.655000	0.94253	GGC	.	.		0.587	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844	
SCN10A	6336	hgsc.bcm.edu	37	3	38739634	38739634	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr3:38739634C>T	ENST00000449082.2	-	27	5076	c.5077G>A	c.(5077-5079)Ggg>Agg	p.G1693R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1693					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCTGGGCTCCCACAGTCCCCT	0.562																																					p.G1693R		Atlas-SNP	.											.	SCN10A	359	.	0			c.G5077A						.						93.0	91.0	92.0					3																	38739634		2203	4300	6503	SO:0001583	missense	6336	exon27			GGCTCCCACAGTC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5077G>A	chr3.hg19:g.38739634C>T	ENSP00000390600:p.Gly1693Arg	119.0	0.0		140.0	61.0	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100457	0.76983	.	.	ENSG00000185313	ENST00000449082	D	0.98512	-4.97	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98034	1.0378	10	0.87932	D	0	.	19.3209	0.94237	0.0:1.0:0.0:0.0	.	1693	Q9Y5Y9	SCNAA_HUMAN	R	1693	ENSP00000390600:G1693R	ENSP00000390600:G1693R	G	-	1	0	SCN10A	38714638	1.000000	0.71417	0.986000	0.45419	0.726000	0.41606	7.651000	0.83577	2.800000	0.96347	0.655000	0.94253	GGG	.	.		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
ITGB5	3693	hgsc.bcm.edu	37	3	124560396	124560396	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr3:124560396T>G	ENST00000296181.4	-	5	910	c.614A>C	c.(613-615)tAc>tCc	p.Y205S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	205	VWFA.				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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AAACAACTTGTAACTAGAGAG	0.463																																					p.Y205S		Atlas-SNP	.											.	ITGB5	66	.	0			c.A614C						.						65.0	59.0	61.0					3																	124560396		2203	4300	6503	SO:0001583	missense	3693	exon5			AACTTGTAACTAG	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.614A>C	chr3.hg19:g.124560396T>G	ENSP00000296181:p.Tyr205Ser	73.0	0.0		66.0	28.0	NM_002213	B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	hg19	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.075961|4.075961	0.76415|0.76415	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000496703|ENST00000296181	.|D	.|0.97752	.|-4.52	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.|0.060984	.|0.64402	.|D	.|0.000002	D|D	0.97377|0.97377	0.9142|0.9142	L|L	0.31371|0.31371	0.925|0.925	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.73708	.|0.981	D|D	0.97059|0.97059	0.9769|0.9769	5|10	.|0.31617	.|T	.|0.26	.|.	16.0399|16.0399	0.80667|0.80667	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|205	.|P18084	.|ITB5_HUMAN	F|S	1|205	.|ENSP00000296181:Y205S	.|ENSP00000296181:Y205S	L|Y	-|-	3|2	2|0	ITGB5|ITGB5	126043086|126043086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.734000|5.734000	0.68580|0.68580	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTA|TAC	.	.		0.463	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	
FOXL2	668	hgsc.bcm.edu	37	3	138664931	138664931	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr3:138664931G>C	ENST00000330315.3	-	1	1051	c.634C>G	c.(634-636)Ccc>Gcc	p.P212A	RP11-548O1.3_ENST00000495287.1_lincRNA|C3orf72_ENST00000383165.3_5'Flank	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	212					apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						TAGGGCATGGGTGAGGGAGGC	0.736			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""																														p.P212A		Atlas-SNP	.		Dom	yes		3	3q23	668	forkhead box L2	yes	O	.	FOXL2	408	.	0			c.C634G						.						10.0	4.0	6.0					3																	138664931		1217	2299	3516	SO:0001583	missense	668	exon1			GCATGGGTGAGGG	AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"""Forkhead boxes"""	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.634C>G	chr3.hg19:g.138664931G>C	ENSP00000333188:p.Pro212Ala	508.0	0.0		435.0	25.0	NM_023067	Q4ZGJ3	Missense_Mutation	SNP	ENST00000330315.3	hg19	CCDS3105.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800356	0.70567	.	.	ENSG00000183770	ENST00000330315;ENST00000542203	D	0.94613	-3.47	3.66	3.66	0.41972	.	0.257379	0.31484	U	0.007562	D	0.95516	0.8543	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.95975	0.8973	10	0.62326	D	0.03	.	15.7039	0.77563	0.0:0.0:1.0:0.0	.	212	P58012	FOXL2_HUMAN	A	212	ENSP00000333188:P212A	ENSP00000333188:P212A	P	-	1	0	FOXL2	140147621	1.000000	0.71417	0.990000	0.47175	0.895000	0.52256	5.096000	0.64535	1.742000	0.51746	0.505000	0.49811	CCC	.	.		0.736	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357999.1		
ELF2	1998	hgsc.bcm.edu	37	4	139994674	139994674	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr4:139994674T>C	ENST00000394235.2	-	5	788	c.286A>G	c.(286-288)Att>Gtt	p.I96V	ELF2_ENST00000265495.4_Missense_Mutation_p.I96V|ELF2_ENST00000510408.1_Missense_Mutation_p.I36V|ELF2_ENST00000379550.1_Missense_Mutation_p.I96V|ELF2_ENST00000379549.2_Missense_Mutation_p.I36V|ELF2_ENST00000358635.3_Missense_Mutation_p.I36V	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GCAGCTTCAATTGTCTTATCT	0.383																																					p.H96D		Atlas-SNP	.											.	ELF2	43	.	0			c.C286G						.						116.0	105.0	109.0					4																	139994674		2203	4300	6503	SO:0001583	missense	1998	exon4			CTTCAATTGTCTT	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.286A>G	chr4.hg19:g.139994674T>C	ENSP00000377782:p.Ile96Val	236.0	0.0		219.0	77.0	NM_201999		Missense_Mutation	SNP	ENST00000394235.2	hg19	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841831	0.71488	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000510408;ENST00000420916;ENST00000512627	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.21	5.21	0.72293	.	0.111315	0.64402	D	0.000014	T	0.56187	0.1968	L	0.52126	1.63	0.44155	D	0.996959	P;D;P;P;P	0.53885	0.699;0.963;0.592;0.953;0.954	P;P;P;P;P	0.55087	0.768;0.678;0.475;0.76;0.718	T	0.54879	-0.8227	9	.	.	.	.	15.0854	0.72148	0.0:0.0:0.0:1.0	.	36;96;36;36;36	B0KYV4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	V	36;96;96;96;36;36;36;36	ENSP00000351458:I36V;ENSP00000377782:I96V;ENSP00000368868:I96V;ENSP00000265495:I96V;ENSP00000368867:I36V;ENSP00000426997:I36V;ENSP00000397796:I36V;ENSP00000426087:I36V	.	I	-	1	0	ELF2	140214124	1.000000	0.71417	0.917000	0.36280	0.972000	0.66771	4.905000	0.63286	1.982000	0.57802	0.455000	0.32223	ATT	.	.		0.383	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874	
LRRC70	100130733	hgsc.bcm.edu	37	5	61877102	61877102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr5:61877102C>T	ENST00000334994.5	+	2	2076	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	IPO11_ENST00000409534.1_Intron|IPO11_ENST00000409296.3_Intron|LRRC70_ENST00000448151.2_3'UTR|IPO11_ENST00000325324.6_Intron	NM_181506.4	NP_852607.3	Q7Z2Q7	LRR70_HUMAN	leucine rich repeat containing 70	613						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						AAATGAGGCACAGGTCATTCT	0.358																																					p.Q613X		Atlas-SNP	.											.	LRRC70	19	.	0			c.C1837T						.						102.0	79.0	86.0					5																	61877102		692	1590	2282	SO:0001587	stop_gained	100130733	exon2			GAGGCACAGGTCA		CCDS47218.1	5q12.1	2008-12-18			ENSG00000186105	ENSG00000186105			35155	protein-coding gene	gene with protein product	"""synleurin"""						Standard	NM_181506		Approved	SLRN, LOC100130733	uc011cqs.1	Q7Z2Q7	OTTHUMG00000154401	ENST00000334994.5:c.1837C>T	chr5.hg19:g.61877102C>T	ENSP00000399441:p.Gln613*	255.0	0.0		277.0	90.0	NM_181506	Q6ZWI5	Nonsense_Mutation	SNP	ENST00000334994.5	hg19	CCDS47218.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008928	0.97998	.	.	ENSG00000186105	ENST00000334994	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9015	0.96985	0.0:1.0:0.0:0.0	.	.	.	.	X	613	.	.	Q	+	1	0	LRRC70	61912858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.293000	0.65680	2.704000	0.92352	0.655000	0.94253	CAG	.	.		0.358	LRRC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335067.3	XR_042302	
ERBB2IP	55914	hgsc.bcm.edu	37	5	65309395	65309395	+	Silent	SNP	T	T	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr5:65309395T>C	ENST00000284037.5	+	6	794	c.405T>C	c.(403-405)tcT>tcC	p.S135S	ERBB2IP_ENST00000416865.2_Silent_p.S135S|ERBB2IP_ENST00000508515.1_Silent_p.S135S|ERBB2IP_ENST00000506030.1_Silent_p.S135S|ERBB2IP_ENST00000380938.2_Silent_p.S135S|ERBB2IP_ENST00000511297.1_Silent_p.S135S|ERBB2IP_ENST00000380939.2_Silent_p.S135S|ERBB2IP_ENST00000380935.1_Silent_p.S135S|ERBB2IP_ENST00000380943.2_Silent_p.S135S|ERBB2IP_ENST00000380936.1_Silent_p.S135S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	135					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATGGATTTTCTCAGCTGTTAA	0.323																																					p.S135S		Atlas-SNP	.											.	ERBB2IP	120	.	0			c.T405C						.						153.0	157.0	155.0					5																	65309395		2203	4300	6503	SO:0001819	synonymous_variant	55914	exon6			ATTTTCTCAGCTG		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.405T>C	chr5.hg19:g.65309395T>C		102.0	0.0		108.0	11.0	NM_001253701	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	hg19	CCDS58953.1																																																																																			.	.		0.323	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
SLC12A2	6558	hgsc.bcm.edu	37	5	127483354	127483354	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr5:127483354C>G	ENST00000262461.2	+	11	2003	c.1814C>G	c.(1813-1815)gCa>gGa	p.A605G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A605G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	605					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CTAATTTCTGCAGGTATATTT	0.323																																					p.A605G		Atlas-SNP	.											.	SLC12A2	119	.	0			c.C1814G						.						127.0	125.0	126.0					5																	127483354		2203	4297	6500	SO:0001583	missense	6558	exon11			TTTCTGCAGGTAT		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1814C>G	chr5.hg19:g.127483354C>G	ENSP00000262461:p.Ala605Gly	161.0	0.0		103.0	32.0	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	hg19	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506570	0.85282	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99014	-5.33;-5.33	5.06	5.06	0.68205	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99139	1.0855	10	0.62326	D	0.03	.	18.6192	0.91315	0.0:1.0:0.0:0.0	.	605;605	P55011-3;P55011	.;S12A2_HUMAN	G	605	ENSP00000262461:A605G;ENSP00000340878:A605G	ENSP00000262461:A605G	A	+	2	0	SLC12A2	127511253	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.212000	0.77941	2.638000	0.89438	0.585000	0.79938	GCA	.	.		0.323	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
PCDHB5	26167	hgsc.bcm.edu	37	5	140516627	140516627	+	Silent	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr5:140516627C>T	ENST00000231134.5	+	1	1828	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCGGCTCCCCGGCGCTGA	0.682																																					p.S537S		Atlas-SNP	.											.	PCDHB5	184	.	0			c.C1611T						.						41.0	47.0	45.0					5																	140516627		2203	4299	6502	SO:0001819	synonymous_variant	26167	exon1			CGGCTCCCCGGCG	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1611C>T	chr5.hg19:g.140516627C>T		126.0	0.0		182.0	77.0	NM_015669	Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	hg19	CCDS4247.1																																																																																			.	.		0.682	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
BAI3	577	hgsc.bcm.edu	37	6	70037730	70037730	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr6:70037730T>G	ENST00000370598.1	+	22	3805	c.2984T>G	c.(2983-2985)gTg>gGg	p.V995G	BAI3_ENST00000238918.8_Missense_Mutation_p.V201G	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	995					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V995A(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCATTAGTAGTGGCCACATCA	0.383																																					p.V995G		Atlas-SNP	.											BAI3,colon,carcinoma,0,3	BAI3	451	.	2	Substitution - Missense(2)	lung(2)	c.T2984G						.						135.0	114.0	121.0					6																	70037730		2203	4300	6503	SO:0001583	missense	577	exon22			TAGTAGTGGCCAC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2984T>G	chr6.hg19:g.70037730T>G	ENSP00000359630:p.Val995Gly	101.0	0.0		117.0	55.0	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132426	0.77662	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.59083	0.29;0.29	5.75	4.58	0.56647	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	H	0.95745	3.715	0.80722	D	1	P;P;D	0.89917	0.948;0.901;1.0	P;P;D	0.97110	0.765;0.636;1.0	D	0.83731	0.0198	10	0.87932	D	0	.	11.7912	0.52070	0.0:0.0688:0.0:0.9312	.	201;995;995	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	G	995;201	ENSP00000359630:V995G;ENSP00000238918:V201G	ENSP00000238918:V201G	V	+	2	0	BAI3	70094451	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.040000	0.89188	1.002000	0.39104	0.533000	0.62120	GTG	.	.		0.383	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
KIAA1324L	222223	hgsc.bcm.edu	37	7	86554856	86554856	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr7:86554856C>T	ENST00000450689.2	-	10	1572	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D223N|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D463N|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D296N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	463						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTCATTCCATCGCACTTTGAA	0.393																																					p.D463N		Atlas-SNP	.											.	KIAA1324L	225	.	0			c.G1387A						.						127.0	111.0	116.0					7																	86554856		2203	4300	6503	SO:0001583	missense	222223	exon10			TTCCATCGCACTT	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1387G>A	chr7.hg19:g.86554856C>T	ENSP00000413445:p.Asp463Asn	115.0	0.0		107.0	38.0	NM_001142749	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	hg19	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.953897|3.953897	0.73902|0.73902	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Growth factor, receptor (1);|.	0.045007|.	0.85682|.	D|.	0.000000|.	T|T	0.72779|0.72779	0.3503|0.3503	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.99;0.997;0.997|.	P;P;P|.	0.60886|.	0.812;0.88;0.759|.	T|T	0.69273|0.69273	-0.5188|-0.5188	10|5	0.21014|.	T|.	0.42|.	.|.	18.8137|18.8137	0.92070|0.92070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	463;223;296|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	N|Q	463;223;463;296|423	ENSP00000413445:D463N;ENSP00000297222:D223N;ENSP00000397377:D463N;ENSP00000402390:D296N|.	ENSP00000297222:D223N|.	D|R	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86392792|86392792	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.404000|0.404000	0.30871|0.30871	7.793000|7.793000	0.85851|0.85851	2.698000|2.698000	0.92095|0.92095	0.563000|0.563000	0.77884|0.77884	GAT|CGA	.	.		0.393	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
CHRNB3	1142	hgsc.bcm.edu	37	8	42586871	42586871	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr8:42586871G>C	ENST00000289957.2	+	5	549	c.421G>C	c.(421-423)Gtt>Ctt	p.V141L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	141					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	AAACGGAACTGTTGTCTGGAC	0.542																																					p.V141L		Atlas-SNP	.											.	CHRNB3	74	.	0			c.G421C						.						62.0	55.0	57.0					8																	42586871		2203	4300	6503	SO:0001583	missense	1142	exon5			GGAACTGTTGTCT	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.421G>C	chr8.hg19:g.42586871G>C	ENSP00000289957:p.Val141Leu	165.0	1.0		286.0	190.0	NM_000749	Q15827	Missense_Mutation	SNP	ENST00000289957.2	hg19	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	12.34	1.907703	0.33721	.	.	ENSG00000147432	ENST00000289957	D	0.84070	-1.8	5.35	2.08	0.27032	Neurotransmitter-gated ion-channel ligand-binding (3);	0.155822	0.56097	D	0.000031	D	0.83096	0.5180	M	0.78456	2.415	0.29239	N	0.872747	B	0.24823	0.112	B	0.37422	0.249	T	0.79169	-0.1914	10	0.66056	D	0.02	.	6.9631	0.24608	0.4119:0.0:0.5881:0.0	.	141	Q05901	ACHB3_HUMAN	L	141	ENSP00000289957:V141L	ENSP00000289957:V141L	V	+	1	0	CHRNB3	42706028	0.253000	0.23982	0.007000	0.13788	0.015000	0.08874	0.872000	0.28037	0.762000	0.33152	-0.145000	0.13849	GTT	.	.		0.542	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
CSMD3	114788	hgsc.bcm.edu	37	8	113293433	113293433	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr8:113293433T>C	ENST00000297405.5	-	59	9722	c.9478A>G	c.(9478-9480)Aca>Gca	p.T3160A	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3120A|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2991A|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3090A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3160	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAGACCATGTTCCATTGGCT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.T3160A		Atlas-SNP	.											.	CSMD3	2325	.	0			c.A9478G						.						116.0	110.0	112.0					8																	113293433		2203	4300	6503	SO:0001583	missense	114788	exon59			ACCATGTTCCATT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9478A>G	chr8.hg19:g.113293433T>C	ENSP00000297405:p.Thr3160Ala	155.0	0.0		171.0	22.0	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856844	0.91433	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.066283	0.64402	D	0.000014	T	0.77226	0.4099	M	0.74389	2.26	0.58432	D	0.999991	D;P;P	0.57899	0.981;0.478;0.748	D;P;P	0.65010	0.931;0.491;0.511	T	0.76675	-0.2872	10	0.36615	T	0.2	.	15.9699	0.80004	0.0:0.0:0.0:1.0	.	2991;3160;3120	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3120;3160;2430;2991;3090	ENSP00000345799:T3120A;ENSP00000297405:T3160A;ENSP00000341558:T2430A;ENSP00000412263:T2991A;ENSP00000343124:T3090A	ENSP00000297405:T3160A	T	-	1	0	CSMD3	113362609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.946000	0.87746	2.170000	0.68504	0.524000	0.50904	ACA	.	.		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SNAPC4	6621	hgsc.bcm.edu	37	9	139272186	139272186	+	Missense_Mutation	SNP	G	G	A	rs372472067		TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr9:139272186G>A	ENST00000298532.2	-	21	4461	c.4093C>T	c.(4093-4095)Cgg>Tgg	p.R1365W		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACCGCGCCCGCAACAGGAGG	0.726																																					p.R1365W		Atlas-SNP	.											.	SNAPC4	82	.	0			c.C4093T						.		TRP/ARG	0,4390		0,0,2195	21.0	23.0	23.0		4093	1.7	0.0	9		23	2,8586		0,2,4292	no	missense	SNAPC4	NM_003086.2	101	0,2,6487	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1365/1470	139272186	2,12976	2195	4294	6489	SO:0001583	missense	6621	exon21			GCGCCCGCAACAG	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.4093C>T	chr9.hg19:g.139272186G>A	ENSP00000298532:p.Arg1365Trp	112.0	0.0		133.0	47.0	NM_003086		Missense_Mutation	SNP	ENST00000298532.2	hg19	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.610741	0.28712	0.0	2.33E-4	ENSG00000165684	ENST00000298532	T	0.24908	1.83	4.06	1.66	0.24008	.	0.196559	0.34507	N	0.003920	T	0.19167	0.0460	L	0.40543	1.245	0.09310	N	1	B	0.26081	0.141	B	0.14023	0.01	T	0.15694	-1.0428	10	0.87932	D	0	-13.5129	10.0768	0.42366	0.0:0.0:0.3652:0.6348	.	1365	Q5SXM2	SNPC4_HUMAN	W	1365	ENSP00000298532:R1365W	ENSP00000298532:R1365W	R	-	1	2	SNAPC4	138392007	0.983000	0.35010	0.012000	0.15200	0.005000	0.04900	1.417000	0.34770	0.044000	0.15775	-0.408000	0.06270	CGG	.	.		0.726	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
GPR158	57512	hgsc.bcm.edu	37	10	25464914	25464914	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr10:25464914C>A	ENST00000376351.3	+	1	924	c.565C>A	c.(565-567)Cag>Aag	p.Q189K	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	189					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACCGGCCCCACAGGTCTTCCT	0.677																																					p.Q189K		Atlas-SNP	.											.	GPR158	255	.	0			c.C565A						.						34.0	31.0	32.0					10																	25464914		2202	4299	6501	SO:0001583	missense	57512	exon1			GCCCCACAGGTCT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.565C>A	chr10.hg19:g.25464914C>A	ENSP00000365529:p.Gln189Lys	63.0	0.0		86.0	33.0	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	hg19	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782708	0.70222	.	.	ENSG00000151025	ENST00000376351	T	0.77620	-1.11	4.77	4.77	0.60923	.	0.160748	0.41605	D	0.000860	D	0.84129	0.5404	M	0.71036	2.16	0.34689	D	0.725483	P	0.47910	0.902	P	0.53006	0.715	D	0.89589	0.3826	10	0.59425	D	0.04	.	17.9839	0.89150	0.0:1.0:0.0:0.0	.	189	Q5T848	GP158_HUMAN	K	189	ENSP00000365529:Q189K	ENSP00000365529:Q189K	Q	+	1	0	GPR158	25504920	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.846000	0.39289	2.485000	0.83878	0.591000	0.81541	CAG	.	.		0.677	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
ZNF248	57209	hgsc.bcm.edu	37	10	38121102	38121102	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr10:38121102T>C	ENST00000395867.3	-	6	1731	c.1181A>G	c.(1180-1182)aAc>aGc	p.N394S	ZNF248_ENST00000357328.4_Missense_Mutation_p.N394S|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	394					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)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTGAGTGAGGTTTGACTTCTC	0.463																																					p.N394S		Atlas-SNP	.											.	ZNF248	61	.	0			c.A1181G						.						100.0	100.0	100.0					10																	38121102		2203	4299	6502	SO:0001583	missense	57209	exon6			GTGAGGTTTGACT	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1181A>G	chr10.hg19:g.38121102T>C	ENSP00000379208:p.Asn394Ser	114.0	0.0		99.0	37.0	NM_001267597	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	hg19	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.617182	0.28801	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.19938	2.11;2.11	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000050	T	0.12944	0.0314	N	0.10733	0.035	0.36694	D	0.879722	D	0.56035	0.974	P	0.49665	0.618	T	0.07195	-1.0785	10	0.07482	T	0.82	.	11.5902	0.50941	0.0:0.0:0.0:1.0	.	394	Q8NDW4	ZN248_HUMAN	S	394	ENSP00000379208:N394S;ENSP00000349882:N394S	ENSP00000349882:N394S	N	-	2	0	ZNF248	38161108	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	0.016000	0.13377	2.062000	0.61559	0.455000	0.32223	AAC	.	.		0.463	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
LOXL4	84171	hgsc.bcm.edu	37	10	100017527	100017527	+	Silent	SNP	G	G	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr10:100017527G>A	ENST00000260702.3	-	8	1290	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	380	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CATATCCCCTGCAGCGCACCT	0.602																																					p.C380C		Atlas-SNP	.											.	LOXL4	60	.	0			c.C1140T						.						100.0	85.0	90.0					10																	100017527		2203	4300	6503	SO:0001819	synonymous_variant	84171	exon8			TCCCCTGCAGCGC	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1140C>T	chr10.hg19:g.100017527G>A		69.0	0.0		85.0	36.0	NM_032211	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	hg19	CCDS7473.1																																																																																			.	.		0.602	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211	
OR8H1	219469	hgsc.bcm.edu	37	11	56057636	56057636	+	Silent	SNP	A	A	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr11:56057636A>G	ENST00000313022.2	-	1	930	c.903T>C	c.(901-903)atT>atC	p.I301I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCATGACTCTAATGAGAGCAT	0.348																																					p.I301I		Atlas-SNP	.											.	OR8H1	89	.	0			c.T903C						.						90.0	102.0	98.0					11																	56057636		2201	4294	6495	SO:0001819	synonymous_variant	219469	exon1			GACTCTAATGAGA	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.903T>C	chr11.hg19:g.56057636A>G		192.0	0.0		170.0	65.0	NM_001005199	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	hg19	CCDS31526.1																																																																																			.	.		0.348	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
C2CD3	26005	hgsc.bcm.edu	37	11	73849880	73849880	+	Missense_Mutation	SNP	C	C	A	rs139995248		TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr11:73849880C>A	ENST00000334126.7	-	5	1066	c.840G>T	c.(838-840)caG>caT	p.Q280H	C2CD3_ENST00000539061.1_Missense_Mutation_p.Q280H|C2CD3_ENST00000313663.7_Missense_Mutation_p.Q280H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	280					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAAGGGACATCTGCTTCCGTG	0.433																																					p.Q280H		Atlas-SNP	.											C2CD3_ENST00000334126,NS,carcinoma,0,2	C2CD3	288	.	0			c.G840T						.						143.0	125.0	131.0					11																	73849880		2200	4293	6493	SO:0001583	missense	26005	exon5			GGACATCTGCTTC	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.840G>T	chr11.hg19:g.73849880C>A	ENSP00000334379:p.Gln280His	89.0	0.0		104.0	37.0	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	hg19		.	.	.	.	.	.	.	.	.	.	C	14.20	2.465221	0.43839	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.11063	2.81;2.85	5.99	2.96	0.34315	.	0.235228	0.35349	N	0.003274	T	0.11879	0.0289	M	0.72118	2.19	0.28356	N	0.920679	B;B	0.21821	0.061;0.06	B;B	0.22386	0.039;0.037	T	0.17806	-1.0357	10	0.42905	T	0.14	-1.9468	4.5098	0.11906	0.3028:0.5252:0.0:0.172	.	280;280	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	H	280	ENSP00000334379:Q280H;ENSP00000323339:Q280H	ENSP00000289350:Q280H	Q	-	3	2	C2CD3	73527528	0.661000	0.27430	0.998000	0.56505	0.935000	0.57460	0.136000	0.15974	0.349000	0.23975	-0.345000	0.07892	CAG	.	C|1.000;T|0.000		0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
TROAP	10024	hgsc.bcm.edu	37	12	49719613	49719613	+	Silent	SNP	G	G	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr12:49719613G>A	ENST00000257909.3	+	5	655	c.579G>A	c.(577-579)ctG>ctA	p.L193L	TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Silent_p.L193L	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	193					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCTCTAGGCTGGAGGGACCAG	0.637																																					p.L193L		Atlas-SNP	.											.	TROAP	80	.	0			c.G579A						.						35.0	38.0	37.0					12																	49719613		2203	4300	6503	SO:0001819	synonymous_variant	10024	exon5			TAGGCTGGAGGGA	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.579G>A	chr12.hg19:g.49719613G>A		59.0	0.0		54.0	21.0	NM_005480	F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	hg19	CCDS8784.1																																																																																			.	.		0.637	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480	
CERS5	91012	hgsc.bcm.edu	37	12	50537811	50537811	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr12:50537811A>G	ENST00000317551.6	-	2	351	c.227T>C	c.(226-228)aTt>aCt	p.I76T	CERS5_ENST00000422340.2_Missense_Mutation_p.I18T	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	76					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CTCGATGCCAATACAGAGTGC	0.393																																					p.I76T		Atlas-SNP	.											.	.	.	.	0			c.T227C						.						133.0	128.0	130.0					12																	50537811		2203	4300	6503	SO:0001583	missense	91012	exon2			ATGCCAATACAGA		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.227T>C	chr12.hg19:g.50537811A>G	ENSP00000325485:p.Ile76Thr	67.0	0.0		72.0	4.0	NM_147190	B4DV54	Missense_Mutation	SNP	ENST00000317551.6	hg19	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.267187	0.59540	.	.	ENSG00000139624	ENST00000317551;ENST00000422340	T;T	0.20738	2.05;2.73	4.0	4.0	0.46444	.	0.359234	0.28841	N	0.013962	T	0.19846	0.0477	L	0.39898	1.24	0.35543	D	0.80318	B;B	0.21821	0.061;0.036	B;B	0.23150	0.044;0.028	T	0.22977	-1.0201	10	0.72032	D	0.01	-4.0757	13.9595	0.64170	1.0:0.0:0.0:0.0	.	18;76	B4DV54;Q8N5B7	.;CERS5_HUMAN	T	76;18	ENSP00000325485:I76T;ENSP00000389050:I18T	ENSP00000325485:I76T	I	-	2	0	CERS5	48824078	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	8.565000	0.90730	2.037000	0.60232	0.533000	0.62120	ATT	.	.		0.393	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190	
BEST3	144453	hgsc.bcm.edu	37	12	70088201	70088201	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr12:70088201A>G	ENST00000330891.5	-	3	422	c.196T>C	c.(196-198)Tca>Cca	p.S66P	BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.S66P|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_5'UTR	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	66					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGTAAATTGATAATTTTTCA	0.378																																					p.S66P		Atlas-SNP	.											.	BEST3	129	.	0			c.T196C						.						109.0	108.0	108.0					12																	70088201		1930	4140	6070	SO:0001583	missense	144453	exon3			AAATTGATAATTT	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.196T>C	chr12.hg19:g.70088201A>G	ENSP00000332413:p.Ser66Pro	120.0	0.0		138.0	46.0	NM_032735	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	hg19	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592776	0.66219	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98585	-5.01;-5.01;-5.01	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.75777	2.31	0.80722	D	1	D;P	0.76494	0.999;0.886	D;P	0.72982	0.979;0.615	D	0.99297	1.0900	10	0.34782	T	0.22	-16.0534	16.4608	0.84044	1.0:0.0:0.0:0.0	.	66;66	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	P	66	ENSP00000329064:S66P;ENSP00000332413:S66P;ENSP00000446575:S66P	ENSP00000332413:S66P	S	-	1	0	BEST3	68374468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.288000	0.76882	0.533000	0.62120	TCA	.	.		0.378	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439	
TMEM132C	92293	hgsc.bcm.edu	37	12	129190519	129190519	+	Silent	SNP	G	G	A	rs551480348		TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr12:129190519G>A	ENST00000435159.2	+	9	3006	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	TMEM132C_ENST00000315208.8_Silent_p.P618P|TMEM132C_ENST00000537538.1_Silent_p.P387P	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	1002						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						ACCGCGGACCGGGGGCCTGCG	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15945	0.0		0.0	False		,,,				2504	0.0				p.P1002P		Atlas-SNP	.											.	TMEM132C	142	.	0			c.G3006A						.						19.0	27.0	24.0					12																	129190519		692	1591	2283	SO:0001819	synonymous_variant	92293	exon9			CGGACCGGGGGCC	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.3006G>A	chr12.hg19:g.129190519G>A		120.0	0.0		117.0	46.0	NM_001136103	Q69YX8	Silent	SNP	ENST00000435159.2	hg19																																																																																				.	.		0.662	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062	
ASB2	51676	hgsc.bcm.edu	37	14	94420805	94420805	+	Silent	SNP	G	G	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr14:94420805G>A	ENST00000315988.4	-	2	680	c.192C>T	c.(190-192)gcC>gcT	p.A64A	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.A112A	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	64					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CATCCTTGATGGCCTTTATCA	0.607																																					p.A112A		Atlas-SNP	.											.	ASB2	71	.	0			c.C336T						.						85.0	72.0	76.0					14																	94420805		2203	4300	6503	SO:0001819	synonymous_variant	51676	exon4			CTTGATGGCCTTT	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.192C>T	chr14.hg19:g.94420805G>A		55.0	0.0		71.0	29.0	NM_001202429	B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	hg19	CCDS9915.1																																																																																			.	.		0.607	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		
EIF5	1983	hgsc.bcm.edu	37	14	103806063	103806063	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr14:103806063A>T	ENST00000216554.3	+	10	1670	c.994A>T	c.(994-996)Aag>Tag	p.K332*	EIF5_ENST00000558506.1_Nonsense_Mutation_p.K332*|EIF5_ENST00000392715.2_Nonsense_Mutation_p.K332*|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	332	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GCTTATCTCCAAGATTCCACA	0.443																																					p.K332X		Atlas-SNP	.											.	EIF5	40	.	0			c.A994T						.						112.0	97.0	102.0					14																	103806063		2203	4300	6503	SO:0001587	stop_gained	1983	exon10			ATCTCCAAGATTC	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.994A>T	chr14.hg19:g.103806063A>T	ENSP00000216554:p.Lys332*	96.0	0.0		101.0	41.0	NM_001969	Q53XB3|Q9H5N2|Q9UG48	Nonsense_Mutation	SNP	ENST00000216554.3	hg19	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	45	11.304472	0.99544	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	.	.	.	5.89	5.89	0.94794	.	0.050558	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1273	14.8867	0.70575	1.0:0.0:0.0:0.0	.	.	.	.	X	332	.	ENSP00000216554:K332X	K	+	1	0	EIF5	102875816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.933000	0.75874	2.245000	0.73994	0.455000	0.32223	AAG	.	.		0.443	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969	
PDCD7	10081	hgsc.bcm.edu	37	15	65412278	65412278	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr15:65412278C>T	ENST00000204549.4	-	3	1078	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	342					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TCTGCTGAGGCTGGAGGACAG	0.463																																					p.A342T		Atlas-SNP	.											.	PDCD7	22	.	0			c.G1024A						.						116.0	136.0	129.0					15																	65412278		2202	4299	6501	SO:0001583	missense	10081	exon3			CTGAGGCTGGAGG	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1024G>A	chr15.hg19:g.65412278C>T	ENSP00000204549:p.Ala342Thr	132.0	0.0		97.0	41.0	NM_005707	Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	hg19	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329723	0.24167	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	5.33	4.4	0.53042	.	0.411976	0.22847	N	0.054914	T	0.37598	0.1009	L	0.51422	1.61	0.28577	N	0.910335	B	0.18461	0.028	B	0.15870	0.014	T	0.26052	-1.0114	9	0.13470	T	0.59	-3.8902	9.5014	0.39019	0.0:0.6322:0.293:0.0749	.	342	Q8N8D1	PDCD7_HUMAN	T	342;127;136	.	ENSP00000204549:A342T	A	-	1	0	PDCD7	63199331	0.922000	0.31269	0.997000	0.53966	0.436000	0.31835	1.595000	0.36708	1.353000	0.45828	-0.302000	0.09304	GCC	.	.		0.463	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707	
BRCA1	672	hgsc.bcm.edu	37	17	41245576	41245576	+	Missense_Mutation	SNP	T	T	C	rs397507195|rs55932871		TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr17:41245576T>C	ENST00000357654.3	-	10	2090	c.1972A>G	c.(1972-1974)Atg>Gtg	p.M658V	BRCA1_ENST00000354071.3_Missense_Mutation_p.M658V|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.M611V|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.M362V|BRCA1_ENST00000346315.3_Missense_Mutation_p.M658V|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.M658V	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	658					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGACTGGCATTTGGTTGTAC	0.388			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.M658V		Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1	304	.	0			c.A1972G						.						116.0	102.0	107.0					17																	41245576		2202	4300	6502	SO:0001583	missense	672	exon10	Familial Cancer Database		CTGGCATTTGGTT	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1972A>G	chr17.hg19:g.41245576T>C	ENSP00000350283:p.Met658Val	105.0	0.0		87.0	30.0	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	hg19	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	2.507	-0.313796	0.05422	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.15	0.357	0.16079	.	1.476590	0.03689	N	0.246844	T	0.72859	0.3513	L	0.43598	1.365	0.09310	N	1	B;B;B;B;B;B	0.16166	0.0;0.002;0.003;0.016;0.001;0.003	B;B;B;B;B;B	0.17979	0.003;0.003;0.015;0.015;0.01;0.02	T	0.50021	-0.8876	10	0.29301	T	0.29	.	5.2752	0.15645	0.0:0.2213:0.1387:0.64	rs55932871	658;617;658;658;658;658	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	V	658;658;658;658;362;658;611	ENSP00000350283:M658V;ENSP00000326002:M658V;ENSP00000246907:M658V;ENSP00000310938:M362V;ENSP00000418960:M658V;ENSP00000418775:M611V	ENSP00000310938:M362V	M	-	1	0	BRCA1	38499102	0.000000	0.05858	0.199000	0.23439	0.575000	0.36095	0.150000	0.16263	-0.137000	0.11455	0.459000	0.35465	ATG	.	.		0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
CATSPERD	257062	hgsc.bcm.edu	37	19	5719971	5719971	+	5'Flank	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr19:5719971C>T	ENST00000381624.3	+	0	0				CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000590729.1_5'Flank|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000360614.3_Missense_Mutation_p.G58D|LONP1_ENST00000593119.1_Intron	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AATTGCCGGGCCTCGGCCCCA	0.751																																					p.G58D		Atlas-SNP	.											.	LONP1	66	.	0			c.G173A						.						4.0	5.0	4.0					19																	5719971		1907	3844	5751	SO:0001631	upstream_gene_variant	9361	exon1			GCCGGGCCTCGGC	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		chr19.hg19:g.5719971C>T	Exception_encountered	163.0	0.0		183.0	9.0	NM_004793	Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	hg19	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874298	0.33069	.	.	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.19532	2.14	4.27	2.08	0.27032	.	0.396421	0.18147	N	0.150223	T	0.10035	0.0246	N	0.24115	0.695	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37103	-0.9720	10	0.07813	T	0.8	-6.9898	5.0333	0.14421	0.2152:0.6755:0.0:0.1093	.	58;58	E5KMH8;P36776	.;LONM_HUMAN	D	58	ENSP00000353826:G58D	ENSP00000351177:G58D	G	-	2	0	LONP1	5670971	0.007000	0.16637	0.033000	0.17914	0.859000	0.49053	1.335000	0.33839	0.506000	0.28125	0.655000	0.94253	GGC	.	.		0.751	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
ZNF581	51545	hgsc.bcm.edu	37	19	56156193	56156193	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr19:56156193T>C	ENST00000587252.1	+	2	529	c.256T>C	c.(256-258)Tgc>Cgc	p.C86R	ZNF581_ENST00000270451.5_Missense_Mutation_p.C86R|ZNF581_ENST00000588537.1_Missense_Mutation_p.C86R			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCAGAAAAAGTGCTACAGCTG	0.577																																					p.C86R		Atlas-SNP	.											.	ZNF581	13	.	0			c.T256C						.						58.0	55.0	56.0					19																	56156193		2203	4300	6503	SO:0001583	missense	51545	exon2			AAAAAGTGCTACA	AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"""Zinc fingers, C2H2-type"""	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.256T>C	chr19.hg19:g.56156193T>C	ENSP00000466047:p.Cys86Arg	135.0	0.0		116.0	42.0	NM_016535	B2RDM6	Missense_Mutation	SNP	ENST00000587252.1	hg19	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936690	0.52972	.	.	ENSG00000171425	ENST00000270451	T	0.07114	3.22	3.2	-1.78	0.07957	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.14661	0.345	0.80722	D	1	D	0.53151	0.958	P	0.46275	0.51	T	0.49716	-0.8910	9	0.87932	D	0	.	3.5017	0.07676	0.26:0.1844:0.0:0.5556	.	86	Q9P0T4	ZN581_HUMAN	R	86	ENSP00000270451:C86R	ENSP00000270451:C86R	C	+	1	0	ZNF581	60848005	0.053000	0.20554	0.580000	0.28601	0.862000	0.49288	-0.572000	0.05881	-0.490000	0.06707	0.334000	0.21626	TGC	.	.		0.577	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	NM_016535	
BRWD1	54014	hgsc.bcm.edu	37	21	40558988	40558988	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr21:40558988T>G	ENST00000333229.2	-	42	7254	c.6927A>C	c.(6925-6927)ttA>ttC	p.L2309F	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2309					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAACCCCCTTAAAAAAAGCA	0.318																																					p.L2309F	Melanoma(170;988 1986 4794 16843 39731)	Atlas-SNP	.											.	BRWD1	325	.	0			c.A6927C						.						73.0	75.0	74.0					21																	40558988		2202	4297	6499	SO:0001583	missense	54014	exon42			CCCCCTTAAAAAA	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6927A>C	chr21.hg19:g.40558988T>G	ENSP00000330753:p.Leu2309Phe	238.0	0.0		214.0	86.0	NM_018963	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	3.504	-0.101220	0.06967	.	.	ENSG00000185658	ENST00000333229	T	0.59083	0.29	4.71	-4.64	0.03349	.	1.823850	0.02474	N	0.087812	T	0.47691	0.1459	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23762	-1.0179	10	0.30854	T	0.27	-0.0027	6.4579	0.21940	0.466:0.1179:0.0:0.4161	.	2309	Q9NSI6	BRWD1_HUMAN	F	2309	ENSP00000330753:L2309F	ENSP00000330753:L2309F	L	-	3	2	BRWD1	39480858	0.000000	0.05858	0.034000	0.17996	0.736000	0.42039	-0.720000	0.04969	-0.651000	0.05415	0.528000	0.53228	TTA	.	.		0.318	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
FAM47C	442444	hgsc.bcm.edu	37	X	37027755	37027755	+	Silent	SNP	C	C	G			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chrX:37027755C>G	ENST00000358047.3	+	1	1324	c.1272C>G	c.(1270-1272)tcC>tcG	p.S424S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	424										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGGAGTGTCCCATCTCTGCC	0.607																																					p.S424S		Atlas-SNP	.											.	FAM47C	267	.	0			c.C1272G						.						60.0	59.0	60.0					X																	37027755		2202	4300	6502	SO:0001819	synonymous_variant	442444	exon1			AGTGTCCCATCTC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1272C>G	chrX.hg19:g.37027755C>G		66.0	0.0		54.0	41.0	NM_001013736	Q6ZU46	Silent	SNP	ENST00000358047.3	hg19	CCDS35227.1																																																																																			.	.		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
IGBP1	3476	hgsc.bcm.edu	37	X	69353836	69353836	+	Silent	SNP	C	C	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chrX:69353836C>A	ENST00000342206.6	+	1	538	c.39C>A	c.(37-39)ccC>ccA	p.P13P	IGBP1_ENST00000356413.4_Silent_p.P13P			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	13					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CGCGGCTCCCCGAGCTGTTCG	0.557											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P13P	NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	Atlas-SNP	.											.	IGBP1	33	.	0			c.C39A						.						27.0	25.0	26.0					X																	69353836		2203	4300	6503	SO:0001819	synonymous_variant	3476	exon2			GCTCCCCGAGCTG	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.39C>A	chrX.hg19:g.69353836C>A		80.0	0.0	1114	71.0	51.0	NM_001551	Q8TAB2	Silent	SNP	ENST00000342206.6	hg19	CCDS14396.1																																																																																			.	.		0.557	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1		
ARR3	407	hgsc.bcm.edu	37	X	69498423	69498423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chrX:69498423C>A	ENST00000307959.8	+	12	888	c.837C>A	c.(835-837)tgC>tgA	p.C279*	ARR3_ENST00000374495.3_Nonsense_Mutation_p.C279*	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	279					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CTGCCAGCTGCCAGAAACGGG	0.478																																					p.C279X		Atlas-SNP	.											.	ARR3	41	.	0			c.C837A						.						67.0	61.0	63.0					X																	69498423		2203	4300	6503	SO:0001587	stop_gained	407	exon12			CAGCTGCCAGAAA		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.837C>A	chrX.hg19:g.69498423C>A	ENSP00000311538:p.Cys279*	216.0	1.0		210.0	159.0	NM_004312	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Nonsense_Mutation	SNP	ENST00000307959.8	hg19	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211327	0.79240	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	.	.	.	3.92	-2.04	0.07343	.	0.287468	0.35235	N	0.003360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	5.745	0.18114	0.0:0.3245:0.2272:0.4483	.	.	.	.	X	279	.	ENSP00000311538:C279X	C	+	3	2	ARR3	69415148	0.004000	0.15560	0.028000	0.17463	0.991000	0.79684	-1.769000	0.01792	-0.496000	0.06650	0.513000	0.50165	TGC	.	.		0.478	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	
SPRY3	10251	hgsc.bcm.edu	37	X	155004171	155004171	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chrX:155004171G>A	ENST00000302805.2	+	2	1069	c.638G>A	c.(637-639)tGt>tAt	p.C213Y		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	213	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCCTGCTCTTGTGGGCCTAGT	0.562																																					p.C213Y		Atlas-SNP	.											.	SPRY3	52	.	0			c.G638A						.						263.0	233.0	243.0					X																	155004171		2203	4296	6499	SO:0001583	missense	10251	exon2			GCTCTTGTGGGCC	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.638G>A	chrX.hg19:g.155004171G>A	ENSP00000302978:p.Cys213Tyr	135.0	0.0		111.0	13.0	NM_005840	A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	hg19	CCDS14769.4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.84|13.84	2.355678|2.355678	0.41700|0.41700	.|.	.|.	ENSG00000168939|ENSG00000168939	ENST00000302805|ENST00000369437	T|.	0.71103|.	-0.54|.	2.94|2.94	2.94|2.94	0.34122|0.34122	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46483|0.46483	0.1395|0.1395	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	D|.	0.63880|.	0.993|.	D|.	0.81914|.	0.995|.	T|T	0.40213|0.40213	-0.9575|-0.9575	9|5	0.87932|0.87932	D|D	0|0	-25.9166|-25.9166	10.9825|10.9825	0.47504|0.47504	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	213|.	O43610|.	SPY3_HUMAN|.	Y|M	213|114	ENSP00000302978:C213Y|.	ENSP00000302978:C213Y|ENSP00000358445:V114M	C|V	+|+	2|1	0|0	SPRY3|SPRY3	154657365|154657365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	7.231000|7.231000	0.78106|0.78106	1.494000|1.494000	0.48533|0.48533	0.279000|0.279000	0.19357|0.19357	TGT|GTG	.	.		0.562	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840	
UTY	7404	hgsc.bcm.edu	37	Y	15447912	15447912	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chrY:15447912C>T	ENST00000331397.4	-	16	3081	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	UTY_ENST00000382896.4_Missense_Mutation_p.D737N|UTY_ENST00000537580.1_Missense_Mutation_p.D613N|UTY_ENST00000538878.1_Missense_Mutation_p.D659N|UTY_ENST00000329134.5_Missense_Mutation_p.D692N|UTY_ENST00000545955.1_Missense_Mutation_p.D767N|UTY_ENST00000362096.4_Missense_Mutation_p.D692N|UTY_ENST00000540140.1_Missense_Mutation_p.D689N	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	692					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						CCCTTGACATCAGCACAGCCA	0.408																																					p.D789N	Colon(103;1740 2135 40732 45171)	Atlas-SNP	.											.	UTY	45	.	0			c.G2365A						.						108.0	99.0	101.0					Y																	15447912		623	1992	2615	SO:0001583	missense	7404	exon18			TGACATCAGCACA	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.2074G>A	chrY.hg19:g.15447912C>T	ENSP00000328939:p.Asp692Asn	80.0	0.0		91.0	70.0	NM_001258249	A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	hg19	CCDS14783.1																																																																																			.	.		0.408	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660	
AXIN1	8312	hgsc.bcm.edu	37	16	347839	347843	+	Frame_Shift_Del	DEL	CGGGT	CGGGT	-			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	CGGGT	CGGGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr16:347839_347843delCGGGT	ENST00000262320.3	-	6	2034_2038	c.1663_1667delACCCG	c.(1663-1668)acccgcfs	p.TR555fs	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Frame_Shift_Del_p.TR555fs	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	555	Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTGGGCCCTGCGGGTGGCCTCGGCC	0.702																																					p.555_556del		Atlas-INDEL	.											.	AXIN1	290	.	0			c.1664_1668del						.																																			SO:0001589	frameshift_variant	8312	exon6			.	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1663_1667delACCCG	chr16.hg19:g.347839_347843delCGGGT	ENSP00000262320:p.Thr555fs	55.0	0.0		26.0	14.0	NM_003502	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Del	DEL	ENST00000262320.3	hg19	CCDS10405.1																																																																																			.	.		0.702	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
KIF14	9928	hgsc.bcm.edu	37	1	200522763	200522764	+	Frame_Shift_Del	DEL	AC	AC	-	rs547771811		TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:200522763_200522764delAC	ENST00000367350.4	-	30	5137_5138	c.4699_4700delGT	c.(4699-4701)gtcfs	p.V1567fs		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1567	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCCTGGTGGACAATGTGAGTT	0.396																																					p.1567_1567del		Atlas-INDEL	.											.	KIF14	156	.	0			c.4700_4701del						.																																			SO:0001589	frameshift_variant	9928	exon30			.	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4699_4700delGT	chr1.hg19:g.200522763_200522764delAC	ENSP00000356319:p.Val1567fs	213.0	0.0		318.0	195.0	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Frame_Shift_Del	DEL	ENST00000367350.4	hg19	CCDS30963.1																																																																																			.	.		0.396	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
NFIA	4774	hgsc.bcm.edu	37	1	61743211	61743212	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr1:61743211_61743212insC	ENST00000403491.3	+	3	1063_1064	c.579_580insC	c.(580-582)cccfs	p.P194fs	NFIA_ENST00000371187.3_Frame_Shift_Ins_p.P194fs|NFIA_ENST00000407417.3_Frame_Shift_Ins_p.P186fs|NFIA_ENST00000371191.1_Frame_Shift_Ins_p.P217fs|NFIA_ENST00000371189.4_Frame_Shift_Ins_p.P239fs|NFIA_ENST00000371185.2_Intron|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Frame_Shift_Ins_p.P194fs|NFIA_ENST00000371184.2_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	194					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AATCTGAAAGTCCCAGCCAGCC	0.46																																					p.S238fs		Atlas-INDEL	.											.	NFIA	76	.	0			c.714_715insC						.																																			SO:0001589	frameshift_variant	4774	exon4			.	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.582dupC	chr1.hg19:g.61743214_61743214dupC	ENSP00000384523:p.Pro194fs	218.0	0.0		143.0	85.0	NM_001145512	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Frame_Shift_Ins	INS	ENST00000403491.3	hg19	CCDS44156.1																																																																																			.	.		0.460	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
GXYLT1	283464	hgsc.bcm.edu	37	12	42503406	42503407	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr12:42503406_42503407insT	ENST00000398675.3	-	4	805_806	c.573_574insA	c.(571-576)aaactcfs	p.L192fs	GXYLT1_ENST00000280876.6_Frame_Shift_Ins_p.L161fs	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	192					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GGTTTAAAGAGTTTTTTCCACT	0.317																																					p.L192fs		Atlas-INDEL	.											.	GXYLT1	47	.	0			c.574_575insA						.																																			SO:0001589	frameshift_variant	283464	exon4			.	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.574dupA	chr12.hg19:g.42503412_42503412dupT	ENSP00000381666:p.Leu192fs	357.0	0.0		315.0	101.0	NM_173601	B3KWJ2|Q8IXV1|Q96BH4	Frame_Shift_Ins	INS	ENST00000398675.3	hg19	CCDS41772.1																																																																																			.	.		0.317	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597	
OTOGL	283310	hgsc.bcm.edu	37	12	80732976	80732977	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DD-AAVZ-01A-11D-A40R-10	TCGA-DD-AAVZ-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	468bffe1-0c0a-44f6-bc8d-3f1961116b91	77a16e4e-a1bc-4dc1-ae4a-88342f6c99c4	g.chr12:80732976_80732977insC	ENST00000547103.1	+	42	4925_4926	c.4919_4920insC	c.(4918-4923)cttacafs	p.T1641fs	OTOGL_ENST00000458043.2_Frame_Shift_Ins_p.T1653fs			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1641	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGGTCTCATCTTACAGGAATCA	0.421																																					p.L1652fs		Atlas-INDEL	.											.	OTOGL	235	.	0			c.4955_4956insC						.																																			SO:0001589	frameshift_variant	283310	exon42			.	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	Exception_encountered	chr12.hg19:g.80732976_80732977insC	ENSP00000447211:p.Thr1641fs	115.0	0.0		109.0	47.0	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Frame_Shift_Ins	INS	ENST00000547103.1	hg19																																																																																				.	.		0.421	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
