#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_ACHILLES_Lineage_Results_Top_Genes	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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								9101	SO:0001628	intergenic_variant	4508																															Unknown.37:g.0A>G			9101		Missense_Mutation	SNP	HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A	p.I192V		37	c.574		MT																																																																																			-	HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A	0	0					MT-ATP6			A			9101	+1	no_errors	ENST00000361899	ensembl	human	known	54_36p	missense	SNP	NULL	G
TRNT1	51095	genome.wustl.edu	37	3	3186274	3186274	+	Missense_Mutation	SNP	A	A	G	rs146717589		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr3:3186274A>G	ENST00000251607.6	+	5	590	c.488A>G	c.(487-489)gAt>gGt	p.D163G	TRNT1_ENST00000280591.6_Missense_Mutation_p.D163G	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	163					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATAGGTTTTGATGGCACTTTA	0.289																																																0			3											61.0	68.0	66.0					3																	3186274		2203	4294	6497	3161274	SO:0001583	missense	51095			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.488A>G	3.37:g.3186274A>G	ENSP00000251607:p.Asp163Gly		3161274	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	superfamily_Nucleotidyltransferase,HMMPfam_PolyA_pol,superfamily_Poly A polymerase C-terminal region-like	p.D163G	ENST00000251607.6	37	c.488	CCDS2561.2	3	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623117	0.87460	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.51574	0.7;0.72	5.91	5.91	0.95273	Poly A polymerase, head domain (1);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.70903	2.155	0.80722	D	1	P;D	0.63046	0.567;0.992	B;D	0.72982	0.43;0.979	T	0.70479	-0.4860	10	0.59425	D	0.04	3.2321	16.3483	0.83171	1.0:0.0:0.0:0.0	.	163;163	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	G	163	ENSP00000251607:D163G;ENSP00000280591:D163G	ENSP00000251607:D163G	D	+	2	0	TRNT1	3161274	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.951000	0.93025	2.254000	0.74563	0.533000	0.62120	GAT	-	superfamily_Nucleotidyltransferase,HMMPfam_PolyA_pol		0.289	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNT1	protein_coding	OTTHUMT00000337616.1	A			3161274	+1	no_errors	NM_182916	genbank	human	validated	54_36p	missense	SNP	1.000	G
RPL4P5	158345	genome.wustl.edu	37	9	7478285	7478285	+	IGR	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr9:7478285G>A								KDM4C (302637 upstream) : RP11-77E14.2 (307819 downstream)																							CCCCCTTTTCGGAGTACAGCG	0.557																																																0			9																																								7468285	SO:0001628	intergenic_variant	158345																															9.37:g.7478285G>A			7468285		RNA	SNP	-	NULL		37	NULL		9																																																																																			-	-	0	0.557					LOC158345			G			7468285	-1	pseudogene	XR_017130	genbank	human	model	54_36p	rna	SNP	1.000	A
CD163L1	283316	genome.wustl.edu	37	12	7591861	7591861	+	Intron	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr12:7591861C>T	ENST00000313599.3	-	2	182				CD163L1_ENST00000396630.1_Intron|CD163L1_ENST00000416109.2_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGGGATCTTCTCTTGTTTTC	0.328																																																0			12																																								7483128	SO:0001627	intron_variant	727815			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.124+1888G>A	12.37:g.7591861C>T			7483128	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	RNA	SNP	-	NULL	ENST00000313599.3	37	NULL	CCDS8577.1	12																																																																																			-	-		0.328	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC727815	protein_coding	OTTHUMT00000399329.1	C	NM_174941		7483128	-1	no_errors	XR_015164	genbank	human	model	54_36p	rna	SNP	0.008	T
PTPRM	5797	genome.wustl.edu	37	18	8113615	8113615	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr18:8113615C>A	ENST00000332175.8	+	12	3025	c.1988C>A	c.(1987-1989)gCa>gAa	p.A663E	PTPRM_ENST00000400053.4_Missense_Mutation_p.A601E|PTPRM_ENST00000444013.1_Missense_Mutation_p.A450E|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.A663E|PTPRM_ENST00000580170.1_Missense_Mutation_p.A663E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	663	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TACTTTGCTGCAGAATTTCCT	0.433																																																0			18											113.0	107.0	109.0					18																	8113615		2203	4300	6503	8103615	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1988C>A	18.37:g.8113615C>A	ENSP00000331418:p.Ala663Glu		8103615	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.A663E	ENST00000332175.8	37	c.1988	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.385759	0.95967	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.58060	0.69;0.71;0.51;0.36	5.84	5.84	0.93424	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.81112	2.525	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.78314	0.988;0.991;0.991	T	0.77918	-0.2408	10	0.87932	D	0	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	450;663;663	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	E	663;663;601;450	ENSP00000331418:A663E;ENSP00000382933:A663E;ENSP00000382927:A601E;ENSP00000387608:A450E	ENSP00000331418:A663E	A	+	2	0	PTPRM	8103615	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.487000	0.81328	2.764000	0.94973	0.650000	0.86243	GCA	-	superfamily_Fibronectin type III,HMMSmart_SM00060		0.433	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	C			8103615	+1	no_errors	NM_001105244	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR2Z1	284383	genome.wustl.edu	37	19	8841727	8841727	+	Missense_Mutation	SNP	G	G	T	rs146942346	byFrequency	TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:8841727G>T	ENST00000324060.2	+	1	412	c.337G>T	c.(337-339)Gtc>Ttc	p.V113F		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCTGAGGGCGTCCTGTTGGT	0.532																																																0			19											128.0	101.0	110.0					19																	8841727		2203	4300	6503	8702727	SO:0001583	missense	284383			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.337G>T	19.37:g.8841727G>T	ENSP00000316284:p.Val113Phe		8702727	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V113F	ENST00000324060.2	37	c.337	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.588813	0.00864	.	.	ENSG00000181733	ENST00000324060	T	0.01505	4.82	4.33	-3.76	0.04359	GPCR, rhodopsin-like superfamily (1);	1.086380	0.07134	N	0.846007	T	0.00552	0.0018	N	0.00729	-1.24	0.09310	N	1	P	0.41710	0.76	B	0.39935	0.314	T	0.42361	-0.9456	10	0.02654	T	1	.	5.5655	0.17168	0.4632:0.3465:0.1902:0.0	.	113	Q8NG97	OR2Z1_HUMAN	F	113	ENSP00000316284:V113F	ENSP00000316284:V113F	V	+	1	0	OR2Z1	8702727	0.000000	0.05858	0.938000	0.37757	0.021000	0.10359	-1.234000	0.02931	-0.222000	0.09958	-0.270000	0.10280	GTC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1		0.532	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	protein_coding	OTTHUMT00000459954.1	G			8702727	+1	no_errors	NM_001004699	genbank	human	provisional	54_36p	missense	SNP	0.000	T
OR2Z1	284383	genome.wustl.edu	37	19	8841880	8841880	+	Silent	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:8841880C>T	ENST00000324060.2	+	1	565	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCCATCACCCTGCATTTTCC	0.542																																																0			19											193.0	177.0	183.0					19																	8841880		2203	4300	6503	8702880	SO:0001819	synonymous_variant	284383			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.490C>T	19.37:g.8841880C>T			8702880	B9EH50|Q6IFK0|Q96R25	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.L164	ENST00000324060.2	37	c.490	CCDS32895.1	19																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	protein_coding	OTTHUMT00000459954.1	C			8702880	+1	no_errors	NM_001004699	genbank	human	provisional	54_36p	silent	SNP	0.006	T
LDLR	3949	genome.wustl.edu	37	19	11224402	11224402	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:11224402C>A	ENST00000558518.1	+	10	1737	c.1550C>A	c.(1549-1551)tCc>tAc	p.S517Y	LDLR_ENST00000545707.1_Missense_Mutation_p.S390Y|LDLR_ENST00000535915.1_Missense_Mutation_p.S476Y|LDLR_ENST00000557933.1_Missense_Mutation_p.S517Y|LDLR_ENST00000455727.2_Missense_Mutation_p.S349Y|LDLR_ENST00000558013.1_Missense_Mutation_p.S517Y	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	517					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GAGAACGGCTCCAAGCCAAGG	0.567																																					GBM(18;201 575 7820 21545)											1	Unknown(1)	lung(1)	19											114.0	89.0	98.0					19																	11224402		2203	4300	6503	11085402	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1550C>A	19.37:g.11224402C>A	ENSP00000454071:p.Ser517Tyr		11085402	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b	p.S517Y	ENST00000558518.1	37	c.1550	CCDS12254.1	19	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879747	0.33162	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.96041	-3.89;-3.89;-3.89	4.72	4.72	0.59763	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.101979	0.39985	N	0.001218	D	0.97046	0.9035	M	0.64170	1.965	0.24682	N	0.993351	D;D;D;D;D;D	0.71674	0.998;0.998;0.991;0.995;0.991;0.983	D;D;D;D;D;D	0.75484	0.986;0.986;0.971;0.971;0.971;0.971	D	0.92716	0.6187	10	0.72032	D	0.01	.	16.4495	0.83974	0.0:1.0:0.0:0.0	.	349;390;396;476;529;517	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	Y	517;390;476;349	ENSP00000437639:S390Y;ENSP00000440520:S476Y;ENSP00000397829:S349Y	ENSP00000252444:S517Y	S	+	2	0	LDLR	11085402	0.003000	0.15002	0.071000	0.20095	0.082000	0.17680	1.464000	0.35288	2.186000	0.69663	0.555000	0.69702	TCC	-	superfamily_YWTD domain,HMMPfam_Ldl_recept_b,HMMSmart_SM00135		0.567	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	protein_coding	OTTHUMT00000415973.2	C			11085402	+1	no_errors	NM_000527	genbank	human	reviewed	54_36p	missense	SNP	0.355	A
ZNF20	7568	genome.wustl.edu	37	19	12244149	12244149	+	Silent	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:12244149C>T	ENST00000334213.5	-	4	1076	c.852G>A	c.(850-852)gaG>gaA	p.E284E	ZNF20_ENST00000485451.1_5'Flank|ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						ATTGCTTACACTCATAGGGTT	0.398																																																0			19											74.0	78.0	77.0					19																	12244149		2202	4300	6502	12105149	SO:0001819	synonymous_variant	7568			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.852G>A	19.37:g.12244149C>T			12105149	Q8N457|Q9UG41	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.E284	ENST00000334213.5	37	c.852	CCDS45986.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355		0.398	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF20	protein_coding	OTTHUMT00000344101.1	C	NM_021143		12105149	-1	no_errors	NM_021143	genbank	human	validated	54_36p	silent	SNP	0.006	T
FRMPD4	9758	genome.wustl.edu	37	X	12708328	12708328	+	Silent	SNP	C	C	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chrX:12708328C>G	ENST00000380682.1	+	8	1202	c.696C>G	c.(694-696)acC>acG	p.T232T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	232	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCATCTTAACCCTTCAAGAGA	0.458																																																0			X											153.0	118.0	130.0					X																	12708328		2203	4300	6503	12618249	SO:0001819	synonymous_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.696C>G	X.37:g.12708328C>G			12618249	A8K0X9|O15032	Silent	SNP	PatternScan_WW_DOMAIN_1,PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M	p.T232	ENST00000380682.1	37	c.696	CCDS35201.1	X																																																																																			-	HMMSmart_B41		0.458	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	protein_coding	OTTHUMT00000055771.1	C	XM_045712		12618249	+1	no_errors	NM_014728	genbank	human	validated	54_36p	silent	SNP	0.913	G
CAPN7	23473	genome.wustl.edu	37	3	15282283	15282283	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr3:15282283T>A	ENST00000253693.2	+	14	1828	c.1575T>A	c.(1573-1575)gaT>gaA	p.D525E		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	525	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTTCCTGGGATGATCTCTGCC	0.303																																																0			3											121.0	121.0	121.0					3																	15282283		2203	4300	6503	15257287	SO:0001583	missense	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1575T>A	3.37:g.15282283T>A	ENSP00000253693:p.Asp525Glu		15257287		Missense_Mutation	SNP	PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,HMMSmart_MIT,HMMPfam_MIT,superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2,superfamily_Peptidase_C2,HMMPfam_Calpain_III,HMMSmart_calpain_III	p.D525E	ENST00000253693.2	37	c.1575	CCDS2624.1	3	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307980	0.23821	.	.	ENSG00000131375	ENST00000253693	T	0.38722	1.12	5.74	4.63	0.57726	Peptidase C2, calpain, catalytic domain (3);	0.101049	0.64402	D	0.000003	T	0.12347	0.0300	N	0.01493	-0.835	0.36518	D	0.870016	B	0.02656	0.0	B	0.11329	0.006	T	0.29518	-1.0009	10	0.02654	T	1	-15.3937	5.1108	0.14808	0.2405:0.0:0.2486:0.5108	.	525	Q9Y6W3	CAN7_HUMAN	E	525	ENSP00000253693:D525E	ENSP00000253693:D525E	D	+	3	2	CAPN7	15257287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.954000	0.49113	2.174000	0.68829	0.528000	0.53228	GAT	-	superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2		0.303	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN7	protein_coding	OTTHUMT00000252105.2	T	NM_014296		15257287	+1	no_errors	NM_014296	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR4M1	441670	genome.wustl.edu	37	14	20248917	20248917	+	Missense_Mutation	SNP	G	G	A	rs370827948		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr14:20248917G>A	ENST00000315957.4	+	1	517	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCCTGGTGGCTCTCTCCTG	0.502																																																0			14											256.0	267.0	263.0					14																	20248917		2203	4300	6503	19318757	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.436G>A	14.37:g.20248917G>A	ENSP00000319654:p.Ala146Thr		19318757	B9EH18|Q6IFA3	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A146T	ENST00000315957.4	37	c.436	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	12.99	2.102809	0.37145	.	.	ENSG00000176299	ENST00000315957	T	0.39997	1.05	4.33	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000185	T	0.34978	0.0916	L	0.39245	1.2	0.09310	N	1	P	0.42123	0.771	B	0.42282	0.382	T	0.21177	-1.0253	10	0.39692	T	0.17	-3.8942	11.3673	0.49679	0.0:0.0:0.8186:0.1814	.	146	Q8NGD0	OR4M1_HUMAN	T	146	ENSP00000319654:A146T	ENSP00000319654:A146T	A	+	1	0	OR4M1	19318757	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.493000	0.06459	2.407000	0.81776	0.506000	0.49869	GCT	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.502	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	protein_coding	OTTHUMT00000409770.1	G			19318757	+1	no_errors	NM_001005500	genbank	human	provisional	54_36p	missense	SNP	0.002	A
CTC-260E6.6	0	genome.wustl.edu	37	19	20243313	20243313	+	RNA	SNP	A	A	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:20243313A>T	ENST00000590606.1	-	0	271				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCACATCCCTATATAAATTCC	0.393																																																0			19																																								20104313			0																															19.37:g.20243313A>T			20104313		Nonsense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB	p.Y29*	ENST00000590606.1	37	c.87		19																																																																																			-	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB		0.393	CTC-260E6.6-005	KNOWN	basic	antisense	ENSG00000187928	antisense	OTTHUMT00000452859.1	A			20104313	-1	no_stop_codon	ENST00000339844	ensembl	human	known	54_36p	nonsense	SNP	0.537	T
HERC2P2	400322	genome.wustl.edu	37	15	23330569	23330569	+	RNA	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr15:23330569C>A	ENST00000560464.1	-	0	1167									hect domain and RLD 2 pseudogene 2																		TCGGTGTGGTCAAATGGCACT	0.468																																																0			15																																								20882010			400322			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23330569C>A			20882010		RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			-	-		0.468	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	pseudogene	OTTHUMT00000415936.1	C			20882010	-1	pseudogene	NR_002824	genbank	human	validated	54_36p	rna	SNP	1.000	A
TRAV8-1	28685	genome.wustl.edu	37	14	22265916	22265916	+	RNA	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr14:22265916C>T	ENST00000390430.2	+	0	331									T cell receptor alpha variable 8-1																		TCAGCTTCTCCTCAAGTACTT	0.443																																																0			14											92.0	89.0	90.0					14																	22265916		1894	4116	6010	21335756			0			AE000659		14q11.2	2012-02-07			ENSG00000211782	ENSG00000211782		"""T cell receptors / TRA locus"""	12146	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168986		14.37:g.22265916C>T			21335756		Missense_Mutation	SNP	HMMPfam_V-set,superfamily_SSF48726	p.L67F	ENST00000390430.2	37	c.199		14																																																																																			-	HMMPfam_V-set,superfamily_SSF48726		0.443	TRAV8-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	ENSG00000211782	TR_V_gene	OTTHUMT00000401884.1	C	NG_001332		21335756	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390430	ensembl	human	known	54_36p	missense	SNP	0.923	T
FLJ36000	284124	genome.wustl.edu	37	17	21904767	21904767	+	lincRNA	SNP	C	C	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:21904767C>G	ENST00000581223.2	+	0	0					NR_027084.1																						GGAGCAGACCCACGTCCAAGA	0.567																																																0			17																																								21828894			0																															17.37:g.21904767C>G			21828894		Missense_Mutation	SNP	NULL	p.H51D	ENST00000581223.2	37	c.151		17																																																																																			-	NULL		0.567	RP11-744K17.9-001	KNOWN	basic	lincRNA	LOC100132820	lincRNA	OTTHUMT00000451067.1	C			21828894	+1	no_errors	XM_001716790	genbank	human	model	54_36p	missense	SNP	0.000	G
SS18	6760	genome.wustl.edu	37	18	23667502	23667502	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr18:23667502C>A	ENST00000415083.2	-	2	164	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	SS18_ENST00000545952.1_5'UTR|SS18_ENST00000269137.7_Missense_Mutation_p.D37Y|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542743.1_5'UTR|SS18_ENST00000542420.2_Missense_Mutation_p.D14Y|SS18_ENST00000539849.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	37	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTCTGAGAGTCCATTATACAC	0.274			T	"""SSX1,  SSX2"""	synovial sarcoma																																		Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	0			18											96.0	102.0	100.0					18																	23667502		2202	4295	6497	21921500	SO:0001583	missense	6760			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.109G>T	18.37:g.23667502C>A	ENSP00000414516:p.Asp37Tyr		21921500	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	HMMPfam_SSXT	p.D37Y	ENST00000415083.2	37	c.109	CCDS32807.1	18	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300075	0.40694	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420	T;T	0.43688	0.98;0.94	6.16	5.3	0.74995	.	0.040238	0.85682	D	0.000000	T	0.64046	0.2563	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.947;0.998	T	0.68364	-0.5428	10	0.87932	D	0	-7.0147	14.7025	0.69166	0.0:0.9297:0.0:0.0703	.	37;37	Q4VAX0;Q15532	.;SSXT_HUMAN	Y	40;37;37;14	ENSP00000269137:D37Y;ENSP00000438066:D14Y	ENSP00000269137:D37Y	D	-	1	0	SS18	21921500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.174000	0.77620	1.623000	0.50342	0.650000	0.86243	GAC	-	HMMPfam_SSXT		0.274	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SS18	protein_coding	OTTHUMT00000446226.1	C			21921500	-1	no_errors	NM_001007559	genbank	human	validated	54_36p	missense	SNP	1.000	A
OSBPL3	26031	genome.wustl.edu	37	7	24874172	24874172	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:24874172C>T	ENST00000313367.2	-	15	2130	c.1679G>A	c.(1678-1680)tGc>tAc	p.C560Y	OSBPL3_ENST00000409069.1_Missense_Mutation_p.C493Y|OSBPL3_ENST00000431825.2_Missense_Mutation_p.C493Y|OSBPL3_ENST00000353930.1_Missense_Mutation_p.C524Y|OSBPL3_ENST00000396431.1_Missense_Mutation_p.C529Y|OSBPL3_ENST00000352860.1_Missense_Mutation_p.C529Y|OSBPL3_ENST00000396429.1_Missense_Mutation_p.C524Y	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	560					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CAGCTCCTCGCAGAGCCTCTG	0.617																																																0			7											74.0	68.0	70.0					7																	24874172		2203	4300	6503	24840697	SO:0001583	missense	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1679G>A	7.37:g.24874172C>T	ENSP00000315410:p.Cys560Tyr		24840697	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Oxysterol_BP,PatternScan_OSBP	p.C560Y	ENST00000313367.2	37	c.1679	CCDS5390.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.103526	0.94245	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;1.0;1.0;0.975;1.0	T	0.75013	-0.3467	10	0.87932	D	0	-4.8689	20.17	0.98157	0.0:1.0:0.0:0.0	.	493;524;493;529;524;560	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	Y	560;529;524;493;529;524;493	ENSP00000315410:C560Y;ENSP00000315331:C529Y;ENSP00000315277:C524Y;ENSP00000389779:C493Y;ENSP00000379708:C529Y;ENSP00000379706:C524Y;ENSP00000386953:C493Y	ENSP00000315410:C560Y	C	-	2	0	OSBPL3	24840697	1.000000	0.71417	0.982000	0.44146	0.943000	0.58893	7.764000	0.85297	2.775000	0.95449	0.467000	0.42956	TGC	-	HMMPfam_Oxysterol_BP		0.617	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	protein_coding	OTTHUMT00000214085.2	C			24840697	-1	no_errors	NM_015550	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RARB	5915	genome.wustl.edu	37	3	25502769	25502769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr3:25502769C>A	ENST00000404969.1	+	2	264	c.264C>A	c.(262-264)tgC>tgA	p.C88*	RARB_ENST00000330688.4_Nonsense_Mutation_p.C81*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	88					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACAAACCCTGCTTCGTCTGCC	0.517																																																0			3											114.0	113.0	113.0					3																	25502769		2203	4300	6503	25477773	SO:0001587	stop_gained	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.264C>A	3.37:g.25502769C>A	ENSP00000385865:p.Cys88*		25477773	P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP	superfamily_SSF57716,HMMSmart_ZnF_C4,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep	p.C81*	ENST00000404969.1	37	c.243		3	.	.	.	.	.	.	.	.	.	.	C	40	8.144671	0.98675	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	.	.	.	5.71	1.41	0.22369	.	0.053242	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.681	0.23119	0.0:0.3673:0.0:0.6327	.	.	.	.	X	88;88;88;81	.	ENSP00000332296:C81X	C	+	3	2	RARB	25477773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.919000	0.40015	0.373000	0.24621	0.644000	0.83932	TGC	-	superfamily_SSF57716,HMMSmart_ZnF_C4,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1		0.517	RARB-201	KNOWN	basic	protein_coding	RARB	protein_coding		C	NM_000965, NM_016152		25477773	+1	no_errors	NM_000965	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
HIST1H1C	3006	genome.wustl.edu	37	6	26056315	26056315	+	Silent	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr6:26056315C>A	ENST00000343677.2	-	1	384	c.342G>T	c.(340-342)ggG>ggT	p.G114G		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	114					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTTGGCTTCCCCGGAGGCTG	0.577																																																0			6											69.0	78.0	75.0					6																	26056315		2203	4300	6503	26164294	SO:0001819	synonymous_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.342G>T	6.37:g.26056315C>A			26164294	A8K4I2	Silent	SNP	"HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Linker_histone"	p.G114	ENST00000343677.2	37	c.342	CCDS4577.1	6																																																																																			-	NULL		0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	protein_coding	OTTHUMT00000043372.1	C	NM_005319		26164294	-1	no_errors	NM_005319	genbank	human	reviewed	54_36p	silent	SNP	0.094	A
HMGB1	3146	genome.wustl.edu	37	13	31116522	31116522	+	Intron	SNP	T	T	C	rs80111791	byFrequency	TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr13:31116522T>C	ENST00000405805.1	-	1	927							P09429	HMGB1_HUMAN	high mobility group box 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCGCCTCCCCTGCCACCCCTG	0.622													C|||	1431	0.285743	0.6286	0.1599	5008	,	,		16243	0.131		0.1769	False		,,,				2504	0.183															0			13																																								30014522	SO:0001627	intron_variant	646755			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.13+74285A>G	13.37:g.31116522T>C			30014522	A5D8W9|Q14321|Q5T7C3|Q6IBE1	RNA	SNP	-	NULL	ENST00000405805.1	37	NULL	CCDS9335.1	13																																																																																			-	-		0.622	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC646755	protein_coding	OTTHUMT00000303998.2	T	NM_002128		30014522	-1	pseudogene	XR_037386	genbank	human	model	54_36p	rna	SNP	1.000	C
TEX15	56154	genome.wustl.edu	37	8	30703783	30703783	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr8:30703783G>T	ENST00000256246.2	-	1	2825	c.2751C>A	c.(2749-2751)agC>agA	p.S917R	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	917					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCCTTTTGCTAATTCTTG	0.333																																																0			8											117.0	121.0	120.0					8																	30703783		2203	4298	6501	30823325	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2751C>A	8.37:g.30703783G>T	ENSP00000256246:p.Ser917Arg		30823325		Missense_Mutation	SNP	NULL	p.S917R	ENST00000256246.2	37	c.2751	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641768	0.47153	.	.	ENSG00000133863	ENST00000256246	T	0.13089	2.62	5.62	2.75	0.32379	.	0.276491	0.31279	N	0.007931	T	0.12732	0.0309	L	0.50333	1.59	0.26478	N	0.975165	B	0.17667	0.023	B	0.26864	0.074	T	0.16897	-1.0387	10	0.87932	D	0	.	5.306	0.15803	0.1452:0.0:0.6748:0.1801	.	917	Q9BXT5	TEX15_HUMAN	R	917	ENSP00000256246:S917R	ENSP00000256246:S917R	S	-	3	2	TEX15	30823325	0.221000	0.23642	0.994000	0.49952	0.466000	0.32739	0.313000	0.19415	1.323000	0.45263	0.467000	0.42956	AGC	-	NULL		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	protein_coding	OTTHUMT00000376193.1	G			30823325	-1	no_errors	NM_031271	genbank	human	validated	54_36p	missense	SNP	0.732	T
DNMT3B	1789	genome.wustl.edu	37	20	31384796	31384796	+	Intron	SNP	T	T	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr20:31384796T>G	ENST00000328111.2	+	13	1698				DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000443239.3_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta						C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCTTGCACTCTGCCTCTGG	0.592																																																0			20											211.0	197.0	201.0					20																	31384796		876	1991	2867	30848457	SO:0001627	intron_variant	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1377+121T>G	20.37:g.31384796T>G			30848457	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293	p.L542R	ENST00000328111.2	37	c.1625	CCDS13205.1	20	.	.	.	.	.	.	.	.	.	.	T	1.544	-0.541052	0.04053	.	.	ENSG00000088305	ENST00000537219	.	.	.	3.97	-7.94	0.01152	.	.	.	.	.	T	0.29588	0.0738	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38693	-0.9649	5	0.87932	D	0	.	1.1412	0.01766	0.4292:0.1546:0.2242:0.192	.	.	.	.	R	542	.	ENSP00000441663:L542R	L	+	2	0	DNMT3B	30848457	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.301000	0.01137	-5.021000	0.00024	-0.908000	0.02827	CTC	-	NULL		0.592	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	protein_coding	OTTHUMT00000078643.2	T	NM_006892		30848457	+1	no_start_codon	ENST00000375623	ensembl	human	known	54_36p	missense	SNP	0.000	G
CCL15	6359	genome.wustl.edu	37	17	34328501	34328501	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:34328501G>A	ENST00000354059.4	-	1	583	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	RP11-104J23.1_ENST00000590192.1_RNA|CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.L11F	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	11					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAAGCATGAGGCAGGAGAGG	0.602																																																0			17											88.0	67.0	74.0					17																	34328501		2203	4300	6503	31352614	SO:0001583	missense	6359			AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.31C>T	17.37:g.34328501G>A	ENSP00000293276:p.Leu11Phe		31352614	B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	superfamily_Chemokine_IL8,HMMPfam_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC	p.L11F	ENST00000354059.4	37	c.31	CCDS11304.1	17	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771055	0.31320	.	.	ENSG00000161574	ENST00000354059	T	0.10477	2.87	3.32	2.35	0.29111	.	0.241499	0.27451	N	0.019314	T	0.08044	0.0201	L	0.41710	1.295	0.25557	N	0.987023	B	0.21606	0.058	B	0.18871	0.023	T	0.25847	-1.0120	10	0.30854	T	0.27	.	6.5238	0.22289	0.1336:0.0:0.8664:0.0	.	11	Q16663	CCL15_HUMAN	F	11	ENSP00000293276:L11F	ENSP00000293276:L11F	L	-	1	0	CCL15	31352614	0.995000	0.38212	0.971000	0.41717	0.163000	0.22366	0.788000	0.26872	0.958000	0.37956	0.603000	0.83216	CTC	-	NULL		0.602	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL15	protein_coding	OTTHUMT00000256584.2	G	NM_004167		31352614	-1	no_errors	NM_032965	genbank	human	reviewed	54_36p	missense	SNP	0.069	A
KIAA1549L	25758	genome.wustl.edu	37	11	33565416	33565416	+	Silent	SNP	A	A	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr11:33565416A>G	ENST00000321505.4	+	1	1596	c.1416A>G	c.(1414-1416)gcA>gcG	p.A472A	KIAA1549L_ENST00000265654.5_Silent_p.A472A|KIAA1549L_ENST00000389726.3_Silent_p.A472A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	472						integral component of membrane (GO:0016021)											CAGTGACTGCAGAAGGGTTTA	0.473											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											144.0	137.0	140.0					11																	33565416		1905	4135	6040	33521992	SO:0001819	synonymous_variant	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1416A>G	11.37:g.33565416A>G		841	33521992	B0QYU0	Silent	SNP	NULL	p.A472	ENST00000321505.4	37	c.1416	CCDS44565.2	11																																																																																			-	NULL		0.473	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf41	protein_coding	OTTHUMT00000317998.1	A	NM_012194		33521992	+1	no_errors	NM_012194	genbank	human	validated	54_36p	silent	SNP	0.003	G
TUBB8P4	260338	genome.wustl.edu	37	12	34318498	34318498	+	IGR	SNP	G	G	A	rs371671654		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr12:34318498G>A								RP11-313F23.3 (3325 upstream) : RP11-313F23.4 (25473 downstream)																							GCTCTACAACGATGTCTGACA	0.468																																																0			12																																								34209765	SO:0001628	intergenic_variant	0																															12.37:g.34318498G>A			34209765		RNA	SNP	-	NULL		37	NULL		12																																																																																			-	-	0	0.468					ENSG00000209785			G			34209765	+1	pseudogene	ENST00000387050	ensembl	human	novel	54_36p	rna	SNP	0.998	A
KIF21A	55605	genome.wustl.edu	37	12	39734077	39734077	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr12:39734077T>A	ENST00000361418.5	-	16	2215	c.2200A>T	c.(2200-2202)Aga>Tga	p.R734*	KIF21A_ENST00000541463.2_Nonsense_Mutation_p.R721*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.R721*|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.R734*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.R721*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	734					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCTTGAAGTCTCTGCAGTTCT	0.368																																																0			12											119.0	103.0	108.0					12																	39734077		2203	4297	6500	38020344	SO:0001587	stop_gained	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2200A>T	12.37:g.39734077T>A	ENSP00000354878:p.Arg734*		38020344	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.R721*	ENST00000361418.5	37	c.2161	CCDS53776.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.725128|5.725128	0.96847|0.96847	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	.|.	.|.	.|.	5.22|5.22	-2.23|-2.23	0.06930|0.06930	.|.	0.000000|0.000000	0.52532|0.52532	D|D	0.000066|0.000066	T|.	0.48466|.	0.1501|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50717|.	-0.8795|.	4|.	.|0.10902	.|T	.|0.67	.|.	17.0259|17.0259	0.86446|0.86446	0.0:0.0:0.5789:0.4211|0.0:0.0:0.5789:0.4211	.|.	.|.	.|.	.|.	S|X	81|721;734;734;721;734;721	.|.	.|ENSP00000344501:R734X	R|R	-|-	3|1	2|2	KIF21A|KIF21A	38020344|38020344	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.985000|0.985000	0.73830|0.73830	3.304000|3.304000	0.51866|0.51866	-0.301000|-0.301000	0.08882|0.08882	0.533000|0.533000	0.62120|0.62120	AGA|AGA	-	superfamily_WD40 repeat-like		0.368	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	T	NM_017641		38020344	-1	no_errors	NM_017641	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
ADAM32	203102	genome.wustl.edu	37	8	38994208	38994208	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr8:38994208G>T	ENST00000379907.4	+	3	298	c.171G>T	c.(169-171)gaG>gaT	p.E57D	ADAM32_ENST00000437682.2_Missense_Mutation_p.E64D|ADAM32_ENST00000519315.1_Missense_Mutation_p.E57D	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	57						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CAATAGATGAGAAACTGTACA	0.274																																																0			8											55.0	50.0	52.0					8																	38994208		1795	4049	5844	39113365	SO:0001583	missense	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.171G>T	8.37:g.38994208G>T	ENSP00000369238:p.Glu57Asp		39113365	Q8TC42	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2"	p.E57D	ENST00000379907.4	37	c.171	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952608	0.18431	.	.	ENSG00000197140	ENST00000523400;ENST00000399831;ENST00000437682;ENST00000519315;ENST00000379907;ENST00000522506;ENST00000399826	T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.37	5.65	3.84	0.44239	Peptidase M12B, propeptide (1);	0.499771	0.14936	N	0.289811	T	0.10551	0.0258	L	0.53617	1.68	0.09310	N	1	B;B;P	0.38167	0.236;0.236;0.621	B;B;B	0.44224	0.374;0.374;0.444	T	0.10776	-1.0615	10	0.59425	D	0.04	.	8.7407	0.34556	0.1724:0.0:0.8276:0.0	.	64;57;57	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	D	88;57;64;57;57;57;58	ENSP00000427735:E88D;ENSP00000382727:E57D;ENSP00000405978:E64D;ENSP00000429422:E57D;ENSP00000369238:E57D;ENSP00000429066:E57D	ENSP00000369238:E57D	E	+	3	2	ADAM32	39113365	0.062000	0.20869	0.180000	0.23079	0.468000	0.32798	0.920000	0.28705	1.632000	0.50472	-0.140000	0.14226	GAG	-	HMMPfam_Pep_M12B_propep		0.274	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	protein_coding	OTTHUMT00000377089.1	G	NM_145004		39113365	+1	no_errors	NM_145004	genbank	human	validated	54_36p	missense	SNP	0.091	T
EFTUD2	9343	genome.wustl.edu	37	17	42929828	42929828	+	Silent	SNP	C	C	A	rs376156789		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:42929828C>A	ENST00000426333.2	-	26	2961	c.2664G>T	c.(2662-2664)cgG>cgT	p.R888R	EFTUD2_ENST00000591382.1_Silent_p.R888R|EFTUD2_ENST00000402521.3_Silent_p.R853R|EFTUD2_ENST00000592576.1_Silent_p.R878R	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	888					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGGTGTGAGTCCGGAGATCAG	0.562																																					Ovarian(10;65 485 10258 29980 30707)											0			17						C	,	1,4405	2.1+/-5.4	0,1,2202	88.0	76.0	80.0		2559,2664	1.5	1.0	17		80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EFTUD2	NM_001142605.1,NM_004247.3	,	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,	853/938,888/973	42929828	1,13005	2203	4300	6503	40285354	SO:0001819	synonymous_variant	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2664G>T	17.37:g.42929828C>A			40285354	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	PatternScan_EFACTOR_GTP,superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C	p.R888	ENST00000426333.2	37	c.2664	CCDS11489.1	17																																																																																			-	HMMPfam_EFG_C,superfamily_EFG_III_V		0.562	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	protein_coding	OTTHUMT00000448672.1	C	NM_004247		40285354	-1	no_errors	NM_004247	genbank	human	validated	54_36p	silent	SNP	1.000	A
NPEPPS	9520	genome.wustl.edu	37	17	45664704	45664704	+	Silent	SNP	T	T	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:45664704T>G	ENST00000322157.4	+	9	1326	c.1089T>G	c.(1087-1089)gtT>gtG	p.V363V	NPEPPS_ENST00000530173.1_Silent_p.V359V|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Silent_p.V283V	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	363					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAAATCTTGTTACTATGGTAT	0.373																																																0			17											46.0	42.0	43.0					17																	45664704		1822	4064	5886	43019703	SO:0001819	synonymous_variant	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1089T>G	17.37:g.45664704T>G			43019703	B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	"superfamily_Leukotriene A4 hydrolase N-terminal domain,HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain"	p.V319	ENST00000322157.4	37	c.957	CCDS45721.1	17																																																																																			-	"HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain"		0.373	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	protein_coding	OTTHUMT00000384269.1	T	NM_006310		43019703	+1	no_errors	NM_006310	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
KCNK6	9424	genome.wustl.edu	37	19	38817291	38817291	+	Silent	SNP	G	G	T	rs144408830		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:38817291G>T	ENST00000263372.3	+	2	488	c.381G>T	c.(379-381)gcG>gcT	p.A127A		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	127					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	TCGCCTTTGCGCTCCTGGGCG	0.572																																																0			19											84.0	80.0	81.0					19																	38817291		2203	4300	6503	43509131	SO:0001819	synonymous_variant	9424			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.381G>T	19.37:g.38817291G>T			43509131	Q9HB47	Silent	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2	p.A127	ENST00000263372.3	37	c.381	CCDS12513.1	19																																																																																			-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2		0.572	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK6	protein_coding	OTTHUMT00000460524.1	G	NM_004823		43509131	+1	no_errors	NM_004823	genbank	human	reviewed	54_36p	silent	SNP	0.127	T
SLC12A5	57468	genome.wustl.edu	37	20	44683610	44683610	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr20:44683610G>A	ENST00000454036.2	+	21	2853	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R912H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	935					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGAGCAGCGTTCCCAGATC	0.567																																																0			20											151.0	124.0	133.0					20																	44683610		2203	4300	6503	44117017	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2804G>A	20.37:g.44683610G>A	ENSP00000387694:p.Arg935His		44117017	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	HMMPfam_AA_permease	p.R912H	ENST00000454036.2	37	c.2735	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960799	0.92791	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.51071	0.72;0.72	4.18	4.18	0.49190	.	0.067578	0.64402	D	0.000019	T	0.71888	0.3393	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.983;0.987	T	0.78117	-0.2329	10	0.59425	D	0.04	.	15.6825	0.77381	0.0:0.0:1.0:0.0	.	935;912	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	935;912	ENSP00000387694:R935H;ENSP00000243964:R912H	ENSP00000243964:R912H	R	+	2	0	SLC12A5	44117017	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.610000	0.98337	2.155000	0.67459	0.462000	0.41574	CGT	-	NULL		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	G			44117017	+1	no_errors	NM_020708	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RHOA	387	genome.wustl.edu	37	3	49397770	49397770	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr3:49397770C>A	ENST00000418115.1	-	5	838	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	GPX1_ENST00000496791.1_5'Flank|RHOA_ENST00000454011.2_3'UTR|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000419783.1_5'Flank|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	152					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAAAAGCGCCAATCCTGTTT	0.438																																																0			3											337.0	278.0	298.0					3																	49397770		2203	4300	6503	49372774	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.454G>T	3.37:g.49397770C>A	ENSP00000400175:p.Gly152Cys		49372774	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174	p.G152C	ENST00000418115.1	37	c.454	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174601	0.38413	.	.	ENSG00000067560	ENST00000418115	T	0.74421	-0.84	6.03	6.03	0.97812	Small GTP-binding protein domain (1);	0.289755	0.37261	N	0.002162	T	0.79429	0.4444	M	0.85099	2.735	0.80722	D	1	B	0.13145	0.007	B	0.29267	0.1	T	0.76997	-0.2751	10	0.72032	D	0.01	.	14.0267	0.64590	0.151:0.849:0.0:0.0	.	152	P61586	RHOA_HUMAN	C	152	ENSP00000400175:G152C	ENSP00000400175:G152C	G	-	1	0	RHOA	49372774	0.785000	0.28726	1.000000	0.80357	0.977000	0.68977	1.080000	0.30779	2.861000	0.98227	0.655000	0.94253	GGC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	protein_coding	OTTHUMT00000346157.3	C	NM_001664		49372774	-1	no_errors	NM_001664	genbank	human	validated	54_36p	missense	SNP	1.000	A
ITGA2	3673	genome.wustl.edu	37	5	52377498	52377498	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr5:52377498G>A	ENST00000296585.5	+	26	3259	c.3116G>A	c.(3115-3117)aGt>aAt	p.S1039N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1039					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTTTCAAAAGTGAAAATTTC	0.393																																																0			5											82.0	76.0	78.0					5																	52377498		2203	4300	6503	52413255	SO:0001583	missense	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3116G>A	5.37:g.52377498G>A	ENSP00000296585:p.Ser1039Asn		52413255	Q14595	Missense_Mutation	SNP	superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.S1039N	ENST00000296585.5	37	c.3116	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265851	0.23136	.	.	ENSG00000164171	ENST00000296585	T	0.47869	0.83	6.08	-0.931	0.10438	Integrin alpha-2 (1);	0.547984	0.21896	N	0.067510	T	0.24275	0.0588	N	0.14661	0.345	0.20307	N	0.999917	B	0.06786	0.001	B	0.09377	0.004	T	0.20107	-1.0285	10	0.17369	T	0.5	.	9.6515	0.39899	0.695:0.0:0.305:0.0	.	1039	P17301	ITA2_HUMAN	N	1039	ENSP00000296585:S1039N	ENSP00000296585:S1039N	S	+	2	0	ITGA2	52413255	0.998000	0.40836	0.976000	0.42696	0.793000	0.44817	1.038000	0.30254	-0.075000	0.12798	-0.136000	0.14681	AGT	-	HMMPfam_Integrin_alpha2,superfamily_Integrin domains		0.393	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	protein_coding	OTTHUMT00000253857.2	G	NM_002203		52413255	+1	no_errors	NM_002203	genbank	human	reviewed	54_36p	missense	SNP	0.992	A
OR10P1	121130	genome.wustl.edu	37	12	56031518	56031518	+	Silent	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr12:56031518C>A	ENST00000309675.2	+	1	875	c.843C>A	c.(841-843)gtC>gtA	p.V281V	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTACACAGTCATCACACCCA	0.577																																																0			12											81.0	73.0	76.0					12																	56031518		2203	4300	6503	54317785	SO:0001819	synonymous_variant	121130			BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.843C>A	12.37:g.56031518C>A			54317785	B9EGY4	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V281	ENST00000309675.2	37	c.843	CCDS31828.1	12																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.577	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10P1	protein_coding	OTTHUMT00000406680.1	C			54317785	+1	no_errors	NM_206899	genbank	human	provisional	54_36p	silent	SNP	0.000	A
CES5A	221223	genome.wustl.edu	37	16	55880595	55880595	+	Splice_Site	SNP	C	C	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr16:55880595C>G	ENST00000290567.9	-	13	1618		c.e13-1		CES5A_ENST00000541580.1_Splice_Site|CES5A_ENST00000521992.1_Splice_Site|CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000520435.1_Splice_Site	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATTAGGATTCCTAGAAGGGAG	0.537																																																0			16											160.0	163.0	162.0					16																	55880595		2198	4300	6498	54438096	SO:0001630	splice_region_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1497-1G>C	16.37:g.55880595C>G			54438096	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Splice_Site	SNP	-	e12-1	ENST00000290567.9	37	c.1347-1	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580217	0.28180	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2763	0.87116	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CES5A	54438096	0.996000	0.38824	0.998000	0.56505	0.051000	0.14879	4.486000	0.60286	2.741000	0.93983	0.655000	0.94253	.	-	-		0.537	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES7	protein_coding	OTTHUMT00000256975.3	C	NM_145024	Intron	54438096	-1	no_errors	NM_145024	genbank	human	validated	54_36p	splice_site	SNP	0.996	G
EXOC1	55763	genome.wustl.edu	37	4	56768660	56768660	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr4:56768660A>C	ENST00000381295.2	+	18	2836	c.2488A>C	c.(2488-2490)Aag>Cag	p.K830Q	EXOC1_ENST00000349598.6_Missense_Mutation_p.K815Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.K830Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	830					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TAACCTCTACAAGAAAGTTGA	0.333																																																0			4											92.0	96.0	95.0					4																	56768660		2203	4300	6503	56463417	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2488A>C	4.37:g.56768660A>C	ENSP00000370695:p.Lys830Gln		56463417	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	HMMPfam_Sec3	p.K830Q	ENST00000381295.2	37	c.2488	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147387	0.57151	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.6	5.6	0.85130	.	0.089238	0.85682	D	0.000000	T	0.63698	0.2533	L	0.59436	1.845	0.58432	D	0.999992	B;B	0.26120	0.142;0.09	B;B	0.37833	0.118;0.259	T	0.62623	-0.6815	9	0.41790	T	0.15	.	11.7353	0.51761	0.8527:0.1472:0.0:0.0	.	815;830	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Q	830;830;815	.	ENSP00000326514:K830Q	K	+	1	0	EXOC1	56463417	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.963000	0.76055	2.133000	0.65898	0.477000	0.44152	AAG	-	HMMPfam_Sec3		0.333	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	protein_coding	OTTHUMT00000361799.1	A	NM_018261		56463417	+1	no_errors	NM_001024924	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
OR5B2	390190	genome.wustl.edu	37	11	58190663	58190663	+	Silent	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr11:58190663G>T	ENST00000302581.2	-	1	123	c.72C>A	c.(70-72)ccC>ccA	p.P24P		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGATAAAGAGGGGGATCTGTA	0.458																																																0			11											105.0	99.0	101.0					11																	58190663		2201	4295	6496	57947239	SO:0001819	synonymous_variant	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.72C>A	11.37:g.58190663G>T			57947239	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P24	ENST00000302581.2	37	c.72	CCDS31550.1	11																																																																																			-	superfamily_Family A G protein-coupled receptor-like		0.458	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B2	protein_coding	OTTHUMT00000394887.2	G	NM_001005566		57947239	-1	no_errors	NM_001005566	genbank	human	provisional	54_36p	silent	SNP	0.039	T
KIR2DL3	3804	genome.wustl.edu	37	19	55263948	55263948	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:55263948G>C	ENST00000342376.3	+	8	1034	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	335					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CGTGTACACGGAACTTCCAAA	0.512																																																0			19											220.0	228.0	226.0					19																	55263948		2006	4008	6014	59955760	SO:0001583	missense	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.1003G>C	19.37:g.55263948G>C	ENSP00000342215:p.Glu335Gln		59955760	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig	p.E335Q	ENST00000342376.3	37	c.1003	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460233	0.26248	.	.	ENSG00000243772	ENST00000342376	T	0.00507	6.92	0.909	0.909	0.19332	.	.	.	.	.	T	0.01592	0.0051	M	0.87900	2.915	0.09310	N	1	D;D;D	0.62365	0.968;0.991;0.991	P;D;D	0.73380	0.859;0.98;0.98	T	0.41574	-0.9501	9	0.87932	D	0	.	5.1887	0.15197	0.0:0.0:1.0:0.0	.	237;335;335	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	Q	335	ENSP00000342215:E335Q	ENSP00000342215:E335Q	E	+	1	0	KIR2DL3	59955760	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.250000	0.32850	0.786000	0.33708	0.298000	0.19748	GAA	-	NULL		0.512	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	protein_coding	OTTHUMT00000141150.1	G			59955760	+1	no_errors	NM_015868	genbank	human	reviewed	54_36p	missense	SNP	0.011	C
NCF1B	654816	genome.wustl.edu	37	7	72643698	72643698	+	RNA	SNP	G	G	C			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:72643698G>C	ENST00000423083.1	+	0	312					NR_003186.1		A6NI72	NCF1B_HUMAN	neutrophil cytosolic factor 1B pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol binding (GO:0035091)|superoxide-generating NADPH oxidase activity (GO:0016175)										GGGACGTGGTGGAGGTCGTGG	0.642																																																0			7																																								72281634			654816					7q11.23	2014-03-20	2006-09-19		ENSG00000182487	ENSG00000182487			32522	pseudogene	pseudogene			"""neutrophil cytosolic factor 1B"""				Standard	NR_003186		Approved	SH3PXD1B	uc011ker.1	A6NI72	OTTHUMG00000156804		7.37:g.72643698G>C			72281634		Silent	SNP	superfamily_PX,HMMPfam_PX,HMMSmart_PX,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_p47_phox_C	p.V184	ENST00000423083.1	37	c.552		7																																																																																			-	superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3		0.642	NCF1B-003	KNOWN	basic	processed_transcript	NCF1B	pseudogene	OTTHUMT00000345924.1	G	NR_003186		72281634	+1	no_errors	ENST00000338578	ensembl	human	known	54_36p	silent	SNP	1.000	C
USP33	23032	genome.wustl.edu	37	1	78200077	78200077	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr1:78200077C>A	ENST00000370793.1	-	8	918	c.572G>T	c.(571-573)gGa>gTa	p.G191V	USP33_ENST00000357428.1_Missense_Mutation_p.G191V|USP33_ENST00000370794.3_Missense_Mutation_p.G160V|USP33_ENST00000370792.3_Missense_Mutation_p.G191V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	191	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACAAGTATTTCCAATATTTTT	0.254																																					Melanoma(152;72 1870 11110 26780 42647)											0			1											31.0	31.0	31.0					1																	78200077		2201	4291	6492	77972665	SO:0001583	missense	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.572G>T	1.37:g.78200077C>A	ENSP00000359829:p.Gly191Val		77972665	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	HMMSmart_SM00290,HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,HMMSmart_SM00695	p.G191V	ENST00000370793.1	37	c.572	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365007	0.82463	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	4.55	4.55	0.56014	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86723	0.1943	10	0.87932	D	0	.	17.6748	0.88227	0.0:1.0:0.0:0.0	.	191;191	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	V	160;191;191;191;191	ENSP00000359830:G160V;ENSP00000359829:G191V;ENSP00000350009:G191V;ENSP00000359828:G191V;ENSP00000434441:G191V	ENSP00000350009:G191V	G	-	2	0	USP33	77972665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.261000	0.74972	0.585000	0.79938	GGA	-	superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1		0.254	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	protein_coding	OTTHUMT00000026923.2	C	NM_015017		77972665	-1	no_errors	NM_015017	genbank	human	validated	54_36p	missense	SNP	1.000	A
HK2P1	642546	genome.wustl.edu	37	X	79827390	79827390	+	IGR	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chrX:79827390G>A								FAM46D (126580 upstream) : BRWD3 (98962 downstream)																							CCAGCCTCACGGATGCGGCAG	0.537																																																0			X																																								79714046	SO:0001628	intergenic_variant	0																															X.37:g.79827390G>A			79714046		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.537					LOC642546			G			79714046	-1	pseudogene	XR_038841	genbank	human	model	54_36p	rna	SNP	0.939	A
ELMOD3	84173	genome.wustl.edu	37	2	85617887	85617887	+	Silent	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:85617887G>A	ENST00000409890.2	+	14	1615	c.948G>A	c.(946-948)ttG>ttA	p.L316L	ELMOD3_ENST00000315658.7_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.L316L|ELMOD3_ENST00000409013.3_Silent_p.L316L|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Silent_p.L316L			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	316	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TTGCAGAGTTGGAAGTATTGG	0.582																																																0			2											12.0	16.0	15.0					2																	85617887		692	1591	2283	85471398	SO:0001819	synonymous_variant	0			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.948G>A	2.37:g.85617887G>A			85471398	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	HMMPfam_ELMO_CED12	p.L316	ENST00000409890.2	37	c.948	CCDS46352.1	2																																																																																			-	NULL		0.582	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD3	protein_coding	OTTHUMT00000329124.1	G	NM_032213		85471398	+1	no_errors	ENST00000393852	ensembl	human	known	54_36p	silent	SNP	0.846	A
MIR1179	100302235	genome.wustl.edu	37	15	89151347	89151347	+	RNA	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr15:89151347G>T	ENST00000408703.1	+	0	10					NR_031590.1				microRNA 1179																		TGGCTGGAAAGGAAGAAGCAT	0.373																																																0			15											218.0	195.0	202.0					15																	89151347		1566	3581	5147	86952351			0					15	2011-09-12		2008-12-18	ENSG00000221630	ENSG00000221630		"""ncRNAs / Micro RNAs"""	35260	non-coding RNA	RNA, micro				MIRN1179			Standard	NR_031590		Approved	hsa-mir-1179	uc021suc.1				15.37:g.89151347G>T			86952351		RNA	SNP	-	NULL	ENST00000408703.1	37	NULL		15																																																																																			-	-		0.373	MIR1179-201	KNOWN	basic	miRNA	MIRN1179	miRNA		G	NR_031590		86952351	+1	no_errors	ENST00000408703	ensembl	human	known	54_36p	rna	SNP	0.004	T
RGPD4	285190	genome.wustl.edu	37	2	108477648	108477648	+	Splice_Site	SNP	A	A	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:108477648A>G	ENST00000408999.3	+	14	1997		c.e14-1		RGPD4_ENST00000354986.4_Splice_Site	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGTGTGTTTAGGCATCAGAA	0.303																																																0			2											1.0	1.0	1.0					2																	108477648		2	2	4	107844080	SO:0001630	splice_region_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1921-1A>G	2.37:g.108477648A>G			107844080	B9A029	Splice_Site	SNP	-	e14-2	ENST00000408999.3	37	c.1921-2	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	4.887	0.164785	0.09287	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.6	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4763	0.33016	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGPD4	107844080	1.000000	0.71417	0.980000	0.43619	0.274000	0.26718	6.275000	0.72594	1.068000	0.40764	0.128000	0.15822	.	-	-		0.303	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	A	XM_496581	Intron	107844080	+1	no_errors	ENST00000354986	ensembl	human	known	54_36p	splice_site	SNP	0.993	G
GUCY2F	2986	genome.wustl.edu	37	X	108673621	108673621	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chrX:108673621T>A	ENST00000218006.2	-	8	1997	c.1706A>T	c.(1705-1707)gAt>gTt	p.D569V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACACCCAATCACCCTAGAA	0.393																																																0			X											121.0	121.0	121.0					X																	108673621		2203	4300	6503	108560277	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1706A>T	X.37:g.108673621T>A	ENSP00000218006:p.Asp569Val		108560277	Q9UJF1	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1	p.D569V	ENST00000218006.2	37	c.1706	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346379	0.61073	.	.	ENSG00000101890	ENST00000218006	T	0.64991	-0.13	4.57	4.57	0.56435	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050124	0.85682	D	0.000000	T	0.65375	0.2685	M	0.81112	2.525	0.80722	D	1	P	0.41710	0.76	B	0.43478	0.421	T	0.67722	-0.5597	10	0.42905	T	0.14	.	9.7488	0.40464	0.0:0.0:0.0:1.0	.	569	P51841	GUC2F_HUMAN	V	569	ENSP00000218006:D569V	ENSP00000218006:D569V	D	-	2	0	GUCY2F	108560277	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.194000	0.51005	1.760000	0.52011	0.486000	0.48141	GAT	-	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr		0.393	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	protein_coding	OTTHUMT00000057884.1	T	NM_001522		108560277	-1	no_errors	NM_001522	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
AMPD2	271	genome.wustl.edu	37	1	110170747	110170747	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr1:110170747C>T	ENST00000256578.3	+	10	1645	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	AMPD2_ENST00000528454.1_Missense_Mutation_p.H311Y|AMPD2_ENST00000358729.4_Missense_Mutation_p.H354Y|AMPD2_ENST00000393688.3_Missense_Mutation_p.H310Y|AMPD2_ENST00000342115.4_Missense_Mutation_p.H348Y|AMPD2_ENST00000528667.1_Missense_Mutation_p.H429Y|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	429					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAACCAGAAGCATCTGCTGCG	0.612																																																0			1											71.0	68.0	69.0					1																	110170747		2203	4300	6503	109972270	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1285C>T	1.37:g.110170747C>T	ENSP00000256578:p.His429Tyr		109972270	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	superfamily_Metallo-dependent hydrolases,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE	p.H429Y	ENST00000256578.3	37	c.1285	CCDS805.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.928542|4.928542	0.92389|0.92389	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.91068	.|-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Adenosine/AMP deaminase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96147|0.96147	0.8744|0.8744	M|M	0.93106|0.93106	3.38|3.38	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;1.0;0.999;1.0	.|D;D;D;D	.|0.73380	.|0.976;0.98;0.976;0.98	D|D	0.96776|0.96776	0.9572|0.9572	5|10	.|0.87932	.|D	.|0	-27.4976|-27.4976	17.3138|17.3138	0.87217|0.87217	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|354;310;429;348	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|Y	399|348;429;429;354;311;310	.|ENSP00000345498:H348Y;ENSP00000436541:H429Y;ENSP00000256578:H429Y;ENSP00000351573:H354Y;ENSP00000437164:H311Y;ENSP00000377292:H310Y	.|ENSP00000256578:H429Y	A|H	+|+	2|1	0|0	AMPD2|AMPD2	109972270|109972270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.577000|7.577000	0.82486|0.82486	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GCA|CAT	-	superfamily_Metallo-dependent hydrolases,HMMPfam_A_deaminase		0.612	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	protein_coding	OTTHUMT00000390615.1	C			109972270	+1	no_errors	NM_004037	genbank	human	validated	54_36p	missense	SNP	1.000	T
TMCO3	55002	genome.wustl.edu	37	13	114152780	114152780	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr13:114152780G>A	ENST00000434316.2	+	3	927	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.A190T	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	190						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TGTAAGAAAGGCAGCGGATCG	0.428																																																0			13											135.0	132.0	133.0					13																	114152780		2203	4300	6503	113200781	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.568G>A	13.37:g.114152780G>A	ENSP00000389399:p.Ala190Thr		113200781	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	HMMPfam_Na_H_Exchanger	p.A190T	ENST00000434316.2	37	c.568	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691241	0.48097	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.33654	1.4	5.2	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	M	0.74258	2.255	0.58432	D	0.999996	D;D	0.62365	0.985;0.991	P;D	0.64506	0.8;0.926	T	0.63849	-0.6544	10	0.72032	D	0.01	-24.6227	14.7442	0.69477	0.0:0.0:0.8542:0.1458	.	190;190	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	T	190	ENSP00000389399:A190T	ENSP00000364540:A190T	A	+	1	0	TMCO3	113200781	1.000000	0.71417	0.244000	0.24202	0.030000	0.12068	9.409000	0.97331	1.131000	0.42111	0.555000	0.69702	GCA	-	NULL		0.428	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	protein_coding	OTTHUMT00000045931.3	G	NM_017905		113200781	+1	no_errors	NM_017905	genbank	human	validated	54_36p	missense	SNP	1.000	A
TECTA	7007	genome.wustl.edu	37	11	121000804	121000804	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr11:121000804G>A	ENST00000392793.1	+	10	3096	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	TECTA_ENST00000264037.2_Missense_Mutation_p.R942H			O75443	TECTA_HUMAN	tectorin alpha	942					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCCTTTTCCGCCTGTGCCAG	0.627																																																0			11											63.0	61.0	62.0					11																	121000804		2203	4299	6502	120506014	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2825G>A	11.37:g.121000804G>A	ENSP00000376543:p.Arg942His		120506014		Missense_Mutation	SNP	HMMSmart_SM00539,HMMPfam_NIDO,HMMSmart_SM00215,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_FA58C_2,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1,superfamily_EGF/Laminin	p.R942H	ENST00000392793.1	37	c.2825	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762041	0.69763	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76968	-1.06;-1.06	5.78	5.78	0.91487	Uncharacterised domain, cysteine-rich (2);	0.108901	0.64402	D	0.000004	D	0.85048	0.5608	L	0.58101	1.795	0.40809	D	0.983403	D	0.71674	0.998	D	0.64877	0.93	T	0.80489	-0.1360	10	0.19147	T	0.46	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	942	O75443	TECTA_HUMAN	H	942	ENSP00000376543:R942H;ENSP00000264037:R942H	ENSP00000264037:R942H	R	+	2	0	TECTA	120506014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.104000	0.71498	2.742000	0.94016	0.650000	0.86243	CGC	-	HMMPfam_C8		0.627	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	G	NM_005422		120506014	+1	no_errors	NM_005422	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FAM3C	10447	genome.wustl.edu	37	7	120990537	120990537	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:120990537C>T	ENST00000359943.3	-	10	875	c.662G>A	c.(661-663)tGc>tAc	p.C221Y		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	221					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					CTGGGGGATGCATCCTTCCAT	0.368																																																0			7											140.0	132.0	135.0					7																	120990537		2203	4297	6500	120777773	SO:0001583	missense	10447			D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.662G>A	7.37:g.120990537C>T	ENSP00000353025:p.Cys221Tyr		120777773	A6NDN2|A8K3R7	Missense_Mutation	SNP	NULL	p.C221Y	ENST00000359943.3	37	c.662	CCDS5782.1	7	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668404	0.88348	.	.	ENSG00000196937	ENST00000359943	T	0.67171	-0.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87638	0.2520	10	0.87932	D	0	-10.5419	20.6525	0.99598	0.0:1.0:0.0:0.0	.	221	Q92520	FAM3C_HUMAN	Y	221	ENSP00000353025:C221Y	ENSP00000353025:C221Y	C	-	2	0	FAM3C	120777773	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.400000	0.79949	2.890000	0.99128	0.585000	0.79938	TGC	-	NULL		0.368	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3C	protein_coding	OTTHUMT00000346945.1	C	NM_001040020		120777773	-1	no_errors	NM_001040020	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125405440	125405440	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:125405440G>A	ENST00000431078.1	+	13	2343	c.1979G>A	c.(1978-1980)aGc>aAc	p.S660N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	660	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACGGGGGCAGCATGGAACAG	0.612																																																0			2											35.0	39.0	38.0					2																	125405440		2098	4210	6308	125121910	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1979G>A	2.37:g.125405440G>A	ENSP00000399013:p.Ser660Asn		125121910	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	PatternScan_FA58C_1,PatternScan_FIBRIN_AG_C_DOMAIN,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_2,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMSmart_EGF,HMMPfam_EGF,superfamily_Fibrinogen_a/b/g_C	p.S660N	ENST00000431078.1	37	c.1979	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582134	0.46006	.	.	ENSG00000155052	ENST00000431078	T	0.25749	1.78	5.2	4.32	0.51571	.	0.000000	0.64402	D	0.000009	T	0.42720	0.1215	M	0.75150	2.29	0.44073	D	0.996829	D	0.62365	0.991	P	0.59595	0.86	T	0.30357	-0.9981	10	0.40728	T	0.16	.	9.0253	0.36224	0.0787:0.1473:0.774:0.0	.	660	Q8WYK1	CNTP5_HUMAN	N	660	ENSP00000399013:S660N	ENSP00000399013:S660N	S	+	2	0	CNTNAP5	125121910	0.997000	0.39634	0.997000	0.53966	0.969000	0.65631	2.786000	0.47790	1.329000	0.45376	0.561000	0.74099	AGC	-	superfamily_ConA_like_lec_gl		0.612	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	G			125121910	+1	no_errors	NM_130773	genbank	human	reviewed	54_36p	missense	SNP	0.994	A
POTEI	653269	genome.wustl.edu	37	2	131221382	131221382	+	Silent	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:131221382C>A	ENST00000451531.2	-	15	2665	c.2235G>T	c.(2233-2235)ggG>ggT	p.G745G		NM_001277406.1	NP_001264335.1	P0CG38	POTEI_HUMAN	POTE ankyrin domain family, member I	745	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(11)	11						GATGCATGCCCCCCATCATGC	0.627																																																0			2																																								130937852	SO:0001819	synonymous_variant	653269				CCDS59431.1	2q21.1	2013-01-10			ENSG00000196834	ENSG00000196834		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37093	protein-coding gene	gene with protein product						16364570	Standard	NM_001277406		Approved	POTE2beta	uc031rpa.1	P0CG38	OTTHUMG00000153925	ENST00000451531.2:c.2235G>T	2.37:g.131221382C>A			130937852		Silent	SNP	superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2	p.G745	ENST00000451531.2	37	c.2235	CCDS59431.1	2																																																																																			-	superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268		0.627	POTEI-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LOC653269	protein_coding	OTTHUMT00000333222.2	C	XM_928585		130937852	-1	no_errors	XM_928585	genbank	human	model	54_36p	silent	SNP	1.000	A
TMEM163	81615	genome.wustl.edu	37	2	135214298	135214298	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:135214298T>G	ENST00000281924.6	-	8	923	c.859A>C	c.(859-861)Atg>Ctg	p.M287L		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	287						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		CACTCAAACATCTCGTAGTGA	0.517																																																0			2											104.0	79.0	88.0					2																	135214298		2203	4300	6503	134930768	SO:0001583	missense	81615				CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.859A>C	2.37:g.135214298T>G	ENSP00000281924:p.Met287Leu		134930768	Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	NULL	p.M287L	ENST00000281924.6	37	c.859	CCDS2172.1	2	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967844	0.53507	.	.	ENSG00000152128	ENST00000281924	.	.	.	5.62	5.62	0.85841	.	0.040776	0.85682	D	0.000000	T	0.45337	0.1337	L	0.29908	0.895	0.38100	D	0.93724	B	0.29341	0.242	B	0.26517	0.07	T	0.44952	-0.9294	9	0.21014	T	0.42	.	15.4642	0.75387	0.0:0.0:0.0:1.0	.	287	Q8TC26	TM163_HUMAN	L	287	.	ENSP00000281924:M287L	M	-	1	0	TMEM163	134930768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.922000	0.70036	2.145000	0.66743	0.459000	0.35465	ATG	-	NULL		0.517	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	protein_coding	OTTHUMT00000254631.2	T	NM_030923		134930768	-1	no_errors	NM_030923	genbank	human	validated	54_36p	missense	SNP	1.000	G
PCDHB4	56131	genome.wustl.edu	37	5	140502021	140502021	+	Silent	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr5:140502021G>A	ENST00000194152.1	+	1	441	c.441G>A	c.(439-441)ccG>ccA	p.P147P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGCCAGCCGGGTACTCTAT	0.388																																																0			5											50.0	55.0	53.0					5																	140502021		2203	4299	6502	140482205	SO:0001819	synonymous_variant	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.441G>A	5.37:g.140502021G>A			140482205	Q4V761	Silent	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA	p.P147	ENST00000194152.1	37	c.441	CCDS4246.1	5																																																																																			-	superfamily_Cadherin,HMMPfam_Cadherin		0.388	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	G	NM_018938		140482205	+1	no_errors	NM_018938	genbank	human	reviewed	54_36p	silent	SNP	0.303	A
KCNK9	51305	genome.wustl.edu	37	8	140631230	140631230	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr8:140631230C>T	ENST00000520439.1	-	2	459	c.396G>A	c.(394-396)atG>atA	p.M132I	KCNK9_ENST00000303015.1_Missense_Mutation_p.M132I|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	132					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGAAGGTGTTCATGCGCTCGC	0.582																																																0			8											101.0	79.0	87.0					8																	140631230		2203	4300	6503	140700412	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.396G>A	8.37:g.140631230C>T	ENSP00000430676:p.Met132Ile		140700412	Q2M290|Q540F2	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans_2	p.M132I	ENST00000520439.1	37	c.396	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371077	0.24771	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.21932	1.98;1.98;1.98	5.85	5.85	0.93711	Ion transport 2 (1);	0.102679	0.64402	D	0.000001	T	0.10766	0.0263	N	0.01705	-0.755	0.80722	D	1	B	0.15930	0.015	B	0.22601	0.04	T	0.32561	-0.9902	10	0.20519	T	0.43	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	132	Q9NPC2	KCNK9_HUMAN	I	132	ENSP00000429847:M132I;ENSP00000302166:M132I;ENSP00000430676:M132I	ENSP00000302166:M132I	M	-	3	0	KCNK9	140700412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.304000	0.78882	2.753000	0.94483	0.655000	0.94253	ATG	-	superfamily_SSF81324,HMMPfam_Ion_trans_2		0.582	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	protein_coding	OTTHUMT00000378473.1	C	NM_016601		140700412	-1	no_errors	NM_016601	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SSPO	23145	genome.wustl.edu	37	7	149518041	149518041	+	RNA	SNP	C	C	T	rs117930273	byFrequency	TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:149518041C>T	ENST00000378016.2	+	0	12384							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACAGCTGGGCCCCGGGGAGCC	0.677													C|||	51	0.0101837	0.0015	0.013	5008	,	,		17902	0.001		0.0368	False		,,,				2504	0.002															0			7						C		39,4121		0,39,2041	11.0	16.0	14.0		12398	3.5	1.0	7	dbSNP_132	14	387,8033		13,361,3836	yes	coding-notMod3	SSPO	NM_198455.2		13,400,5877	TT,TC,CC		4.5962,0.9375,3.3863			149518041	426,12154	2080	4210	6290	149148974			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518041C>T			149148974	Q76B61	Missense_Mutation	SNP	HMMSmart_SM00216,HMMPfam_VWD,superfamily_LDL receptor-like module,HMMSmart_SM00192,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Serine proterase inhibitors,HMMSmart_SM00214,HMMSmart_SM00215,HMMPfam_VWC,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,HMMPfam_Ldl_recept_a,PatternScan_LDLRA_1,HMMPfam_TIL,superfamily_PMP inhibitors,PatternScan_EGF_1,PatternScan_VWFC_1,PatternScan_GLYCO_HORMONE_BETA_1	p.P4133S	ENST00000378016.2	37	c.12397		7																																																																																			-	NULL		0.677	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		C			149148974	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_198455	genbank	human	provisional	54_36p	missense	SNP	0.997	T
GABRA6	2559	genome.wustl.edu	37	5	161117251	161117251	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr5:161117251A>T	ENST00000274545.5	+	7	1151	c.718A>T	c.(718-720)Atg>Ttg	p.M240L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.M230L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	240					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GCAAAGGAAGATGGGCTACTT	0.398										TCGA Ovarian(5;0.080)																																						0			5											164.0	145.0	151.0					5																	161117251		2203	4300	6503	161049829	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.718A>T	5.37:g.161117251A>T	ENSP00000274545:p.Met240Leu		161049829	A8K096|Q4VAV2	Missense_Mutation	SNP	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb	p.M240L	ENST00000274545.5	37	c.718	CCDS4356.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.52|16.52	3.146672|3.146672	0.57151|0.57151	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000523691|ENST00000520000	D;D;D|.	0.83992|.	-1.79;-1.79;-1.79|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Neurotransmitter-gated ion-channel ligand-binding (2);Neurotransmitter-gated ion-channel transmembrane domain (1);|.	0.036910|.	0.85682|.	D|.	0.000000|.	T|T	0.53706|0.53706	0.1813|0.1813	N|N	0.26130|0.26130	0.795|0.795	0.51767|0.51767	D|D	0.999932|0.999932	B|.	0.10296|.	0.003|.	B|.	0.15484|.	0.013|.	T|T	0.50923|0.50923	-0.8770|-0.8770	10|5	0.72032|.	D|.	0.01|.	.|.	15.2733|15.2733	0.73723|0.73723	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	240|.	Q16445|.	GBRA6_HUMAN|.	L|S	240;230;160|179	ENSP00000274545:M240L;ENSP00000430527:M230L;ENSP00000427989:M160L|.	ENSP00000274545:M240L|.	M|R	+|+	1|3	0|2	GABRA6|GABRA6	161049829|161049829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.390000|7.390000	0.79816|0.79816	2.016000|2.016000	0.59253|0.59253	0.533000|0.533000	0.62120|0.62120	ATG|AGA	-	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,superfamily_Neurotransmitter-gated ion-channel transmembrane pore		0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	protein_coding	OTTHUMT00000252707.2	A			161049829	+1	no_errors	NM_000811	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LRRC52	440699	genome.wustl.edu	37	1	165532890	165532890	+	Silent	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr1:165532890C>T	ENST00000294818.1	+	2	1061	c.771C>T	c.(769-771)gcC>gcT	p.A257A	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	257					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCATCTTCGCCGCGGGAACTG	0.587																																																0			1											63.0	52.0	56.0					1																	165532890		2203	4300	6503	163799514	SO:0001819	synonymous_variant	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.771C>T	1.37:g.165532890C>T			163799514	A2RUN7|Q5T9K5	Silent	SNP	HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1	p.A257	ENST00000294818.1	37	c.771	CCDS30930.1	1																																																																																			-	NULL		0.587	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC52	protein_coding	OTTHUMT00000083793.1	C	NM_001005214		163799514	+1	no_errors	NM_001005214	genbank	human	validated	54_36p	silent	SNP	0.819	T
TCP10	6953	genome.wustl.edu	37	6	167789513	167789513	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr6:167789513G>T	ENST00000397829.4	-	6	796	c.629C>A	c.(628-630)cCa>cAa	p.P210Q	TCP10_ENST00000366827.2_Missense_Mutation_p.P210Q	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	237						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGCCTGCACTGGTGATTTTCT	0.592																																																0			6											36.0	39.0	38.0					6																	167789513		1976	4171	6147	167709503	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.629C>A	6.37:g.167789513G>T	ENSP00000380929:p.Pro210Gln		167709503	Q5JR60|Q6P4F4	Missense_Mutation	SNP	HMMPfam_Tcp10_C	p.P210Q	ENST00000397829.4	37	c.629	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700819	0.48307	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.27104	1.69;1.69	1.65	1.65	0.23941	.	.	.	.	.	T	0.25865	0.0630	L	0.49126	1.545	0.21675	N	0.999592	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.03060	-1.1077	9	0.87932	D	0	.	6.8174	0.23839	0.0:0.0:1.0:0.0	.	237;237	Q12799;Q12799-2	TCP10_HUMAN;.	Q	210	ENSP00000355792:P210Q;ENSP00000380929:P210Q	ENSP00000355792:P210Q	P	-	2	0	TCP10	167709503	0.009000	0.17119	0.030000	0.17652	0.448000	0.32197	1.546000	0.36179	1.236000	0.43740	0.306000	0.20318	CCA	-	HMMPfam_Tcp10_C		0.592	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	protein_coding	OTTHUMT00000365570.1	G	NM_004610		167709503	-1	no_errors	NM_004610	genbank	human	validated	54_36p	missense	SNP	0.014	T
HSPD1	3329	genome.wustl.edu	37	2	198363501	198363501	+	Silent	SNP	C	C	T	rs201599915	byFrequency	TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:198363501C>T	ENST00000388968.3	-	2	339	c.72G>A	c.(70-72)cgG>cgA	p.R24R	HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000345042.2_Silent_p.R24R|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.R24R|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	24					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.R24R(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TGGCATAAGCCCGAGTGAGAT	0.502																																																1	Substitution - coding silent(1)	breast(1)	2											59.0	60.0	59.0					2																	198363501		2203	4300	6503	198071746	SO:0001819	synonymous_variant	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.72G>A	2.37:g.198363501C>T			198071746	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029,PatternScan_CHAPERONINS_CPN60	p.R24	ENST00000388968.3	37	c.72	CCDS33357.1	2																																																																																			-	NULL		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	protein_coding	OTTHUMT00000335324.2	C	NM_002156		198071746	-1	no_errors	NM_002156	genbank	human	reviewed	54_36p	silent	SNP	0.986	T
TLR5	7100	genome.wustl.edu	37	1	223285575	223285575	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr1:223285575C>T	ENST00000540964.1	-	4	1260	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	TLR5_ENST00000342210.6_Missense_Mutation_p.A267T			O60602	TLR5_HUMAN	toll-like receptor 5	267					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCAAACCCGGCACCCATGATG	0.488																																																0			1											97.0	87.0	90.0					1																	223285575		2203	4300	6503	221352198	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.799G>A	1.37:g.223285575C>T	ENSP00000440643:p.Ala267Thr		221352198	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR	p.A267T	ENST00000540964.1	37	c.799	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	C	9.630	1.136073	0.21123	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.36520	1.25;1.25;1.25	5.27	-6.77	0.01727	.	1.837040	0.02949	N	0.141457	T	0.21801	0.0525	N	0.14661	0.345	0.09310	N	1	B	0.23128	0.08	B	0.28916	0.096	T	0.25537	-1.0129	10	0.31617	T	0.26	.	9.3741	0.38272	0.2758:0.5074:0.2168:0.0	.	267	O60602	TLR5_HUMAN	T	267	ENSP00000440643:A267T;ENSP00000355846:A267T;ENSP00000340089:A267T	ENSP00000340089:A267T	A	-	1	0	TLR5	221352198	0.000000	0.05858	0.006000	0.13384	0.263000	0.26337	-0.543000	0.06084	-0.783000	0.04534	-0.262000	0.10625	GCC	-	superfamily_SSF52058		0.488	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	protein_coding		C	NM_003268		221352198	-1	no_errors	NM_003268	genbank	human	validated	54_36p	missense	SNP	0.001	T
DOCK10	55619	genome.wustl.edu	37	2	225670908	225670908	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:225670908G>C	ENST00000258390.7	-	34	3816	c.3749C>G	c.(3748-3750)aCa>aGa	p.T1250R	DOCK10_ENST00000409592.3_Missense_Mutation_p.T1244R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1250					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTGATAGCTGTCTGGCTTTG	0.348																																																0			2											144.0	144.0	144.0					2																	225670908		1863	4087	5950	225379152	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3749C>G	2.37:g.225670908G>C	ENSP00000258390:p.Thr1250Arg		225379152	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto	p.T1250R	ENST00000258390.7	37	c.3749	CCDS46528.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.94|13.94	2.386613|2.386613	0.42308|0.42308	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.22539	.|1.95;1.95	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.336949	.|0.32093	.|N	.|0.006582	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.38838|0.38838	1.175|1.175	0.39588|0.39588	D|D	0.969533|0.969533	.|B;B;B	.|0.24823	.|0.112;0.01;0.003	.|B;B;B	.|0.22386	.|0.039;0.019;0.002	T|T	0.04693|0.04693	-1.0933|-1.0933	5|10	.|0.23302	.|T	.|0.38	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1250;113;1244	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	E|R	141|1244;1250	.|ENSP00000386694:T1244R;ENSP00000258390:T1250R	.|ENSP00000258390:T1250R	Q|T	-|-	1|2	0|0	DOCK10|DOCK10	225379152|225379152	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.837000|0.837000	0.47467|0.47467	5.237000|5.237000	0.65360|0.65360	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CAG|ACA	-	NULL		0.348	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	G			225379152	-1	no_errors	NM_014689	genbank	human	validated	54_36p	missense	SNP	0.999	C
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	17	GRCh37	CM004908	TP53	M							62.0	48.0	53.0					17																	7574003		2203	4300	6503	7514728	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024delC	17.37:g.7574003delG	ENSP00000269305:p.Arg342fs		7514728	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R342fs	ENST00000269305.4	37	c.1024	CCDS11118.1	17																																																																																			(deletion:cds_exon[7514652,7514758])	HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7514728	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.397	-
IL11RA	3590	genome.wustl.edu	37	9	34661174	34661204	+	Intron	DEL	CAGGGTATTAGTATTAGTACTAATACTCTTC	CAGGGTATTAGTATTAGTACTAATACTCTTC	-	rs11575582|rs543060894	byFrequency	TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	CAGGGTATTAGTATTAGTACTAATACTCTTC	CAGGGTATTAGTATTAGTACTAATACTCTTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr9:34661174_34661204delCAGGGTATTAGTATTAGTACTAATACTCTTC	ENST00000555003.1	+	12	2608				RP11-195F19.30_ENST00000564224.1_RNA|IL11RA_ENST00000318041.9_Intron|CCL27_ENST00000557161.1_5'Flank|IL11RA_ENST00000441545.2_Intron			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha						developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GACTTCCCTTCAGGGTATTAGTATTAGTACTAATACTCTTCCAGGGTATTA	0.498														197	0.0393371	0.003	0.0389	5008	,	,		25050	0.0159		0.0755	False		,,,				2504	0.0757															0			9																																								34651204	SO:0001627	intron_variant	0			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.1252+241CAGGGTATTAGTATTAGTACTAATACTCTTC>-	9.37:g.34661174_34661204delCAGGGTATTAGTATTAGTACTAATACTCTTC			34651174	Q16542|Q5VZ80|Q7KYJ7	RNA	DEL	-	NULL	ENST00000555003.1	37	NULL	CCDS6567.1	9																																																																																			(deletion:rna[34646796,34651770])	-		0.498	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC100133546	protein_coding	OTTHUMT00000410625.1	CAGGGTATTAGTATTAGTACTAATACTCTTC	NM_001142784		34651204	-1	pseudogene	XR_039196	genbank	human	model	54_36p	rna	DEL	0.004:0.010:0.016:0.021:0.026:0.030:0.033:0.035:0.037:0.039:0.039:0.039:0.045:0.046:0.048:0.049:0.050:0.050:0.050:0.050:0.057:0.078:0.092:0.129:0.155:0.181:0.205:0.228:0.249:0.322:0.395	-
ADCK2	90956	genome.wustl.edu	37	7	140373565	140373565	+	Frame_Shift_Del	DEL	C	C	-			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:140373565delC	ENST00000072869.4	+	1	613	c.435delC	c.(433-435)tacfs	p.Y145fs	ADCK2_ENST00000476491.1_Frame_Shift_Del_p.Y145fs	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	145						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GCCCAACCTACATCAAACTGG	0.617																																																0			7											73.0	83.0	79.0					7																	140373565		2203	4300	6503	140020034	SO:0001589	frameshift_variant	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.435delC	7.37:g.140373565delC	ENSP00000072869:p.Tyr145fs		140020034	Q96CN6|Q9Y6T5	Frame_Shift_Del	DEL	HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like)	p.Y145fs	ENST00000072869.4	37	c.435	CCDS5861.1	7																																																																																			(deletion:cds_exon[140019600,140020532])	NULL		0.617	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	protein_coding	OTTHUMT00000348734.1	C	NM_052853		140020034	+1	no_errors	NM_052853	genbank	human	validated	54_36p	frame_shift_del	DEL	0.994	-
IRF2	3660	genome.wustl.edu	37	4	185320214	185320222	+	In_Frame_Del	DEL	CAGATGGGA	CAGATGGGA	-			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	CAGATGGGA	CAGATGGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr4:185320214_185320222delCAGATGGGA	ENST00000393593.3	-	7	748_756	c.541_549delTCCCATCTG	c.(541-549)tcccatctgdel	p.SHL181del		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	181					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TGTTGCTGTCCAGATGGGACTGTCCTACA	0.478																																																0			4																																								185557216	SO:0001651	inframe_deletion	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.541_549delTCCCATCTG	4.37:g.185320214_185320222delCAGATGGGA	ENSP00000377218:p.Ser181_Leu183del		185557208	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	In_Frame_Del	DEL	"HMMSmart_SM00348,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_IRF,PatternScan_IRF"	p.SHL181in_frame_del	ENST00000393593.3	37	c.549_541	CCDS3835.1	4																																																																																			(deletion:cds_exon[185557063,185557227])	NULL		0.478	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2	protein_coding	OTTHUMT00000361393.1	CAGATGGGA			185557216	-1	no_errors	NM_002199	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.975:0.995:0.996:0.990:0.994:0.987:0.830:0.997:0.999	-
