#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	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_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_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_default_gene_name	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_name_source	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
AADAC	13	genome.wustl.edu	37	3	151532064	151532064	+	Silent	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:151532064A>G	ENST00000232892.7	+	1	240	c.114A>G	c.(112-114)gcA>gcG	p.A38A	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Silent_p.A38A|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	38					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGATAAACGCACATCTGAAAA	0.378																																					Ovarian(30;839 841 2699 32801 46334)												0													61.0	60.0	61.0					3																	151532064		2203	4300	6503	SO:0001819	synonymous_variant	13			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.114A>G	3.37:g.151532064A>G			A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase	p.A38	ENST00000232892.7	37	c.114	CCDS33877.1	3																																																																																			AADAC	-	pirsf_Arylacetamide_deacetylase		0.378	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADAC	HGNC	protein_coding	OTTHUMT00000357883.2	A	NM_001086		151532064	+1	no_errors	ENST00000232892	ensembl	human	known	70_37	silent	SNP	0.000	G
ABCA12	26154	genome.wustl.edu	37	2	215812147	215812147	+	Splice_Site	SNP	A	A	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:215812147A>T	ENST00000272895.7	-	48	7457	c.7238T>A	c.(7237-7239)cTg>cAg	p.L2413Q	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site_p.L2095Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2413	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTCTTACCAGCAGTAGAAT	0.388																																					Ovarian(66;664 1488 5121 34295)												0													168.0	164.0	165.0					2																	215812147		2203	4300	6503	SO:0001630	splice_region_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7239+1T>A	2.37:g.215812147A>T			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2413Q	ENST00000272895.7	37	c.7238	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326890	0.81690	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89196	-2.48;-2.48	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.52532	D	0.000076	D	0.96917	0.8993	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98523	1.0624	10	0.87932	D	0	.	16.2605	0.82541	1.0:0.0:0.0:0.0	.	2413;2095	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	2413;2095	ENSP00000272895:L2413Q;ENSP00000374312:L2095Q	ENSP00000272895:L2413Q	L	-	2	0	ABCA12	215520392	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	8.450000	0.90340	2.237000	0.73441	0.460000	0.39030	CTG	ABCA12	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	A	NM_173076	Missense_Mutation	215812147	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCA13	154664	genome.wustl.edu	37	7	48634405	48634405	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:48634405C>A	ENST00000435803.1	+	58	14764	c.14740C>A	c.(14740-14742)Cac>Aac	p.H4914N	ABCA13_ENST00000544596.1_Missense_Mutation_p.H644N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4914	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTGACCTCCCACAGGTGAGT	0.502																																																	0													117.0	124.0	122.0					7																	48634405		2019	4189	6208	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14740C>A	7.37:g.48634405C>A	ENSP00000411096:p.His4914Asn		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H4914N	ENST00000435803.1	37	c.14740	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394432	0.83011	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.99607	-6.27;-6.27;-6.27	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.51477	D	0.000085	D	0.99732	0.9895	M	0.94101	3.495	0.47547	D	0.999453	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.989	D	0.97517	1.0070	10	0.87932	D	0	.	17.3203	0.87234	0.0:1.0:0.0:0.0	.	644;2616;4914	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	N	4914;687;644	ENSP00000411096:H4914N;ENSP00000391042:H687N;ENSP00000442634:H644N	ENSP00000391042:H687N	H	+	1	0	ABCA13	48604951	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.607000	0.74163	2.672000	0.90937	0.563000	0.77884	CAC	ABCA13	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.502	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48634405	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCA4	24	genome.wustl.edu	37	1	94473823	94473823	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:94473823C>A	ENST00000370225.3	-	42	5952	c.5866G>T	c.(5866-5868)Gac>Tac	p.D1956Y	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.D226Y|ABCA4_ENST00000535881.1_Missense_Mutation_p.D75Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1956	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACAGCCTGTCCACTGCTGGG	0.567																																																	0													71.0	70.0	70.0					1																	94473823		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5866G>T	1.37:g.94473823C>A	ENSP00000359245:p.Asp1956Tyr		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.D1956Y	ENST00000370225.3	37	c.5866	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799768	0.70567	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.96830	-4.14;-4.14;-4.14	5.35	5.35	0.76521	ABC transporter-like (1);	0.049009	0.85682	D	0.000000	D	0.97300	0.9117	L	0.49455	1.56	0.80722	D	1	P;D	0.89917	0.889;1.0	B;D	0.80764	0.234;0.994	D	0.97507	1.0064	10	0.87932	D	0	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	75;1956	B4DX12;P78363	.;ABCA4_HUMAN	Y	748;1956;226;75	ENSP00000359245:D1956Y;ENSP00000439707:D226Y;ENSP00000443203:D75Y	ENSP00000359245:D1956Y	D	-	1	0	ABCA4	94246411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.662000	0.68032	2.941000	0.99782	0.655000	0.94253	GAC	ABCA4	-	pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt		0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94473823	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCB9	23457	genome.wustl.edu	37	12	123433238	123433238	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:123433238G>A	ENST00000542678.1	-	5	3824	c.986C>T	c.(985-987)tCc>tTc	p.S329F	ABCB9_ENST00000346530.5_Missense_Mutation_p.S329F|ABCB9_ENST00000442028.2_Missense_Mutation_p.S329F|ABCB9_ENST00000540285.1_Missense_Mutation_p.S329F|ABCB9_ENST00000442833.2_Missense_Mutation_p.S329F|ABCB9_ENST00000392439.3_Missense_Mutation_p.S329F|ABCB9_ENST00000280560.8_Missense_Mutation_p.S329F|ABCB9_ENST00000344275.7_Missense_Mutation_p.S329F			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	329	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGTGACCAAGGAGAGCTGCCA	0.557																																					Ovarian(49;786 1333 9175 38236)												0													138.0	101.0	114.0					12																	123433238		2203	4300	6503	SO:0001583	missense	23457			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.986C>T	12.37:g.123433238G>A	ENSP00000440288:p.Ser329Phe		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S329F	ENST00000542678.1	37	c.986	CCDS9241.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332740	0.81801	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000540971;ENST00000536976;ENST00000541424	D;D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.43	5.43	0.79202	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.056515	0.64402	D	0.000001	D	0.93996	0.8077	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.983;0.999;0.983;0.995;1.0	D;D;D;D;D	0.79108	0.969;0.978;0.917;0.947;0.992	D	0.94354	0.7582	10	0.87932	D	0	-41.1076	19.2341	0.93851	0.0:0.0:1.0:0.0	.	329;329;111;329;329	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	F	329;329;329;329;329;329;35;91;108	ENSP00000280560:S329F;ENSP00000441734:S329F;ENSP00000280559:S329F;ENSP00000376234:S329F;ENSP00000440288:S329F;ENSP00000394898:S329F;ENSP00000441086:S35F;ENSP00000443433:S91F;ENSP00000440138:S108F	ENSP00000280560:S329F	S	-	2	0	ABCB9	121999191	1.000000	0.71417	0.872000	0.34217	0.995000	0.86356	7.815000	0.86186	2.532000	0.85374	0.561000	0.74099	TCC	ABCB9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.557	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB9	HGNC	protein_coding	OTTHUMT00000400956.1	G	NM_019624		123433238	-1	no_errors	ENST00000442028	ensembl	human	known	70_37	missense	SNP	0.996	A
ACACA	31	genome.wustl.edu	37	17	35562745	35562745	+	Silent	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:35562745G>T	ENST00000394406.2	-	33	4069	c.3879C>A	c.(3877-3879)atC>atA	p.I1293I	ACACA_ENST00000335166.5_Silent_p.I1215I|ACACA_ENST00000360679.3_Silent_p.I1235I|ACACA_ENST00000353139.5_Silent_p.I1330I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1293					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTCAGTCTTGATAGCCACAT	0.428																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													170.0	146.0	154.0					17																	35562745		2203	4300	6503	SO:0001819	synonymous_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3879C>A	17.37:g.35562745G>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I1330	ENST00000394406.2	37	c.3990	CCDS11317.1	17																																																																																			ACACA	-	pfam_AcCoA_COase_cen		0.428	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	G	NM_198836		35562745	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	silent	SNP	1.000	T
ADAM20	8748	genome.wustl.edu	37	14	70989425	70989425	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr14:70989425C>T	ENST00000256389.3	-	2	2444	c.2200G>A	c.(2200-2202)Gga>Aga	p.G734R	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	684					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACATTTAATCCTTCCATGTTG	0.433																																																	0													317.0	256.0	277.0					14																	70989425		2203	4300	6503	SO:0001583	missense	8748			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2200G>A	14.37:g.70989425C>T	ENSP00000256389:p.Gly734Arg		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G734R	ENST00000256389.3	37	c.2200	CCDS32111.1	14	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.320989	0.01320	.	.	ENSG00000134007	ENST00000256389	T	0.00932	5.53	1.52	0.419	0.16438	.	.	.	.	.	T	0.00637	0.0021	N	0.16266	0.395	0.09310	N	1	B	0.26002	0.139	B	0.22386	0.039	T	0.46707	-0.9172	9	0.16420	T	0.52	.	3.5708	0.07917	0.0:0.6884:0.0:0.3116	.	684	O43506	ADA20_HUMAN	R	734	ENSP00000256389:G734R	ENSP00000256389:G734R	G	-	1	0	ADAM20	70059178	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.246000	0.08878	0.133000	0.18654	-0.355000	0.07637	GGA	ADAM20	-	NULL		0.433	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2	C			70989425	-1	no_errors	ENST00000256389	ensembl	human	known	70_37	missense	SNP	0.001	T
ADAMTS7	11173	genome.wustl.edu	37	15	79066564	79066564	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:79066564G>A	ENST00000388820.4	-	13	2165	c.1955C>T	c.(1954-1956)aCc>aTc	p.T652I	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	652	Cys-rich.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTAGCAGGGGGTGCCATCGAC	0.637																																																	0													20.0	16.0	18.0					15																	79066564		2083	3993	6076	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1955C>T	15.37:g.79066564G>A	ENSP00000373472:p.Thr652Ile		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T652I	ENST00000388820.4	37	c.1955	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125671	0.77436	.	.	ENSG00000136378	ENST00000388820	T	0.77620	-1.11	4.23	4.23	0.50019	.	0.059375	0.64402	D	0.000003	D	0.90338	0.6977	H	0.94886	3.595	0.54753	D	0.999988	D;D	0.67145	0.996;0.996	D;D	0.65010	0.931;0.911	D	0.93223	0.6610	10	0.87932	D	0	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	652;652	A8MQ00;Q9UKP4	.;ATS7_HUMAN	I	652	ENSP00000373472:T652I	ENSP00000373472:T652I	T	-	2	0	ADAMTS7	76853619	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.414000	0.97362	2.337000	0.79520	0.484000	0.47621	ACC	ADAMTS7	-	NULL		0.637	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	G	NM_014272		79066564	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	missense	SNP	1.000	A
AFP	174	genome.wustl.edu	37	4	74313271	74313271	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:74313271A>T	ENST00000395792.2	+	8	1036	c.936A>T	c.(934-936)caA>caT	p.Q312H	AFP_ENST00000226359.2_Missense_Mutation_p.Q312H	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	312	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACGTGGTCAATGTATAATTC	0.368									Alpha-Fetoprotein, Hereditary Persistence of																																								0													46.0	46.0	46.0					4																	74313271		2203	4300	6503	SO:0001583	missense	174	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.936A>T	4.37:g.74313271A>T	ENSP00000379138:p.Gln312His		B2RBU3	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin	p.Q312H	ENST00000395792.2	37	c.936	CCDS3556.1	4	.	.	.	.	.	.	.	.	.	.	A	2.768	-0.256384	0.05829	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.73258	-0.73;-0.73	5.55	-11.1	0.00147	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.309680	0.04832	N	0.438951	T	0.33847	0.0877	N	0.05259	-0.085	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20605	-1.0270	10	0.02654	T	1	.	3.3564	0.07171	0.1102:0.3754:0.13:0.3844	.	154;312	B4DMX4;P02771	.;FETA_HUMAN	H	312	ENSP00000379138:Q312H;ENSP00000226359:Q312H	ENSP00000226359:Q312H	Q	+	3	2	AFP	74532135	0.000000	0.05858	0.002000	0.10522	0.116000	0.19942	-1.544000	0.02192	-2.420000	0.00564	-1.116000	0.02052	CAA	AFP	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr		0.368	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFP	HGNC	protein_coding	OTTHUMT00000252284.3	A			74313271	+1	no_errors	ENST00000395792	ensembl	human	known	70_37	missense	SNP	0.001	T
ALS2CR11	151254	genome.wustl.edu	37	2	202358491	202358491	+	Intron	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:202358491C>T	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Missense_Mutation_p.G858D|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATGTACAGTGCCACTTGAACC	0.353																																																	0													144.0	110.0	120.0					2																	202358491		692	1591	2283	SO:0001627	intron_variant	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+2126G>A	2.37:g.202358491C>T			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.G858D	ENST00000286195.3	37	c.2573	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925320	0.52759	.	.	ENSG00000155754	ENST00000439140	T	0.54479	0.57	5.4	-1.11	0.09840	.	.	.	.	.	T	0.30070	0.0753	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.19391	0.025	T	0.25745	-1.0123	9	0.10636	T	0.68	.	4.9885	0.14202	0.0:0.4208:0.2651:0.3141	.	858	E9PGG4	.	D	858	ENSP00000409937:G858D	ENSP00000409937:G858D	G	-	2	0	ALS2CR11	202066736	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.110000	0.10824	-0.124000	0.11724	0.655000	0.94253	GGC	ALS2CR11	-	NULL		0.353	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	C	NM_152525		202358491	-1	no_errors	ENST00000439140	ensembl	human	novel	70_37	missense	SNP	0.000	T
AMD1	262	genome.wustl.edu	37	6	111208743	111208743	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:111208743G>C	ENST00000368885.3	+	2	482	c.146G>C	c.(145-147)tGt>tCt	p.C49S	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_5'UTR	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	49					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GATGTGCAATGTTCAATCATA	0.343																																																	0													183.0	177.0	179.0					6																	111208743		2203	4300	6503	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.146G>C	6.37:g.111208743G>C	ENSP00000357880:p.Cys49Ser		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.C49S	ENST00000368885.3	37	c.146	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302248	0.81136	.	.	ENSG00000123505	ENST00000368885	.	.	.	5.46	4.58	0.56647	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89217	0.3568	9	0.72032	D	0.01	.	15.8608	0.79019	0.0:0.0:0.8632:0.1368	.	49	P17707	DCAM_HUMAN	S	49	.	ENSP00000357880:C49S	C	+	2	0	AMD1	111315436	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.307000	0.96226	1.413000	0.46997	0.591000	0.81541	TGT	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr		0.343	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G			111208743	+1	no_errors	ENST00000368885	ensembl	human	known	70_37	missense	SNP	1.000	C
AMPH	273	genome.wustl.edu	37	7	38468041	38468041	+	Intron	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:38468041A>G	ENST00000356264.2	-	14	1398				AMPH_ENST00000325590.5_Intron|AMPH_ENST00000428293.2_Intron|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCTAGACTGAGCTTCTACTT	0.373																																																	0																																										SO:0001627	intron_variant	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1182+1400T>C	7.37:g.38468041A>G			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	RNA	SNP	-	NULL	ENST00000356264.2	37	NULL	CCDS5456.1	7																																																																																			AMPH	-	-		0.373	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	A	NM_001635		38468041	-1	no_errors	ENST00000471913	ensembl	human	known	70_37	rna	SNP	0.000	G
ANKS1B	56899	genome.wustl.edu	37	12	99128516	99128516	+	IGR	SNP	A	A	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:99128516A>T	ENST00000547776.2	-	0	3885				APAF1_ENST00000359972.2_3'UTR|ANKS1B_ENST00000341752.7_3'UTR|APAF1_ENST00000550527.1_3'UTR|APAF1_ENST00000547666.1_3'UTR|APAF1_ENST00000339433.3_3'UTR|APAF1_ENST00000357310.1_3'UTR|APAF1_ENST00000333991.1_3'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGCAAATGTGAAAAGTGAAAC	0.328																																																	0																																										SO:0001628	intergenic_variant	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8			12.37:g.99128516A>T			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	RNA	SNP	-	NULL	ENST00000547776.2	37	NULL	CCDS55872.1	12																																																																																			ANKS1B	-	-		0.328	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	A	NM_020140		99128516	-1	no_errors	ENST00000546541	ensembl	human	known	70_37	rna	SNP	0.503	T
APIP	51074	genome.wustl.edu	37	11	34916565	34916565	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:34916565C>G	ENST00000395787.3	-	2	364	c.150G>C	c.(148-150)ttG>ttC	p.L50F	APIP_ENST00000278359.5_Missense_Mutation_p.L67F|APIP_ENST00000527830.1_Intron	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			ACCCATGCTTCAAGCTAATTC	0.423																																																	0													140.0	131.0	134.0					11																	34916565		2202	4298	6500	SO:0001583	missense	51074			AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.150G>C	11.37:g.34916565C>G	ENSP00000379133:p.Leu50Phe			Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB	p.L67F	ENST00000395787.3	37	c.201	CCDS7895.1	11	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629836	0.46944	.	.	ENSG00000149089	ENST00000278359;ENST00000395787	T;T	0.24350	1.86;1.86	5.51	4.61	0.57282	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	L	0.61218	1.895	0.53688	D	0.999973	B;B	0.32467	0.372;0.122	B;B	0.42959	0.403;0.156	T	0.19614	-1.0300	10	0.87932	D	0	-16.9145	6.7322	0.23388	0.1435:0.7102:0.0:0.1463	.	67;50	B4DY17;Q96GX9	.;MTNB_HUMAN	F	67;50	ENSP00000278359:L67F;ENSP00000379133:L50F	ENSP00000278359:L67F	L	-	3	2	APIP	34873141	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	1.134000	0.31442	1.345000	0.45676	-0.214000	0.12660	TTG	APIP	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB		0.423	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APIP	HGNC	protein_coding	OTTHUMT00000389864.1	C	NM_015957		34916565	-1	no_errors	ENST00000278359	ensembl	human	known	70_37	missense	SNP	1.000	G
ARAP3	64411	genome.wustl.edu	37	5	141033462	141033462	+	3'UTR	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:141033462G>C	ENST00000239440.4	-	0	4755				FCHSD1_ENST00000522126.1_5'Flank|FCHSD1_ENST00000435817.2_5'Flank|ARAP3_ENST00000513878.1_3'UTR|ARAP3_ENST00000508305.1_3'UTR|ARAP3_ENST00000512390.1_5'UTR|FCHSD1_ENST00000522783.1_5'Flank|FCHSD1_ENST00000519800.1_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACAGTGCCACGATAAGAGTTT	0.572																																																	0																																										SO:0001624	3_prime_UTR_variant	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.*55C>G	5.37:g.141033462G>C			B4DIT1|D3DQE3	RNA	SNP	-	NULL	ENST00000239440.4	37	NULL	CCDS4266.1	5																																																																																			ARAP3	-	-		0.572	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	G	NM_022481		141033462	-1	no_errors	ENST00000512390	ensembl	human	known	70_37	rna	SNP	0.111	C
ARHGAP30	257106	genome.wustl.edu	37	1	161022560	161022560	+	Missense_Mutation	SNP	G	G	A	rs200926712		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:161022560G>A	ENST00000368013.3	-	7	1012	c.692C>T	c.(691-693)tCg>tTg	p.S231L	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S231L|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S54L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	231					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCTGGAAGCGATCGCCACCC	0.607																																																	0								G	LEU/SER,LEU/SER	0,4406		0,0,2203	49.0	52.0	51.0		692,692	2.0	0.5	1		51	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	145,145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	231/1102,231/891	161022560	2,13004	2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.692C>T	1.37:g.161022560G>A	ENSP00000356992:p.Ser231Leu		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S231L	ENST00000368013.3	37	c.692	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434658	0.43224	0.0	2.33E-4	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.34275	2.95;2.91;1.37	3.88	1.99	0.26369	.	0.687021	0.12423	N	0.470240	T	0.18002	0.0432	M	0.71036	2.16	0.34824	D	0.738941	P;D	0.52996	0.818;0.957	B;B	0.39503	0.097;0.301	T	0.07252	-1.0782	10	0.49607	T	0.09	.	6.1356	0.20230	0.2353:0.0:0.7647:0.0	.	231;231	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	L	231;231;83;54	ENSP00000356995:S231L;ENSP00000356992:S231L;ENSP00000356994:S54L	ENSP00000356992:S231L	S	-	2	0	ARHGAP30	159289184	0.000000	0.05858	0.457000	0.27056	0.934000	0.57294	-0.196000	0.09532	0.435000	0.26365	0.549000	0.68633	TCG	ARHGAP30	-	NULL		0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	G	NM_181720		161022560	-1	no_errors	ENST00000368013	ensembl	human	known	70_37	missense	SNP	0.871	A
ARID5B	84159	genome.wustl.edu	37	10	63661474	63661474	+	Missense_Mutation	SNP	G	G	T	rs140010870	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:63661474G>T	ENST00000279873.7	+	1	416	c.6G>T	c.(4-6)gaG>gaT	p.E2D		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	2					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCGAGATGGAGCCCAACTCAC	0.577																																																	0													137.0	115.0	122.0					10																	63661474		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.6G>T	10.37:g.63661474G>T	ENSP00000279873:p.Glu2Asp		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E2D	ENST00000279873.7	37	c.6	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012498	0.54468	.	.	ENSG00000150347	ENST00000279873	T	0.55760	0.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	L	0.38531	1.155	0.80722	D	1	D;B	0.67145	0.996;0.274	D;B	0.75484	0.986;0.158	T	0.62840	-0.6769	10	0.45353	T	0.12	-24.6702	18.6521	0.91433	0.0:0.0:1.0:0.0	.	2;2	Q14865-3;Q14865	.;ARI5B_HUMAN	D	2	ENSP00000279873:E2D	ENSP00000279873:E2D	E	+	3	2	ARID5B	63331480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.298000	0.89944	2.782000	0.95742	0.561000	0.74099	GAG	ARID5B	-	NULL		0.577	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	G	XM_084482		63661474	+1	no_errors	ENST00000279873	ensembl	human	known	70_37	missense	SNP	1.000	T
ASB15	142685	genome.wustl.edu	37	7	123264786	123264786	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:123264786G>A	ENST00000451558.1	+	10	1136	c.615G>A	c.(613-615)ctG>ctA	p.L205L	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Silent_p.L205L|ASB15_ENST00000451215.1_Silent_p.L205L|RP11-390E23.3_ENST00000451016.1_RNA|RP11-390E23.3_ENST00000429396.1_RNA|ASB15_ENST00000540573.1_Silent_p.L205L|ASB15_ENST00000275699.3_Silent_p.L205L|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	205					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGTCCACCTGAGAGATGGAT	0.493											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													172.0	129.0	143.0					7																	123264786		2203	4300	6503	SO:0001819	synonymous_variant	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.615G>A	7.37:g.123264786G>A		1525	Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L205	ENST00000451558.1	37	c.615	CCDS34742.1	7																																																																																			ASB15	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.493	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	G			123264786	+1	no_errors	ENST00000275699	ensembl	human	known	70_37	silent	SNP	0.885	A
ATF2	1386	genome.wustl.edu	37	2	175957797	175957797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:175957797G>A	ENST00000264110.2	-	12	1475	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	ATF2_ENST00000345739.5_Nonsense_Mutation_p.Q335*|ATF2_ENST00000409437.1_Nonsense_Mutation_p.Q277*|ATF2_ENST00000538946.1_Nonsense_Mutation_p.Q375*|ATF2_ENST00000426833.3_Nonsense_Mutation_p.Q375*|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_Nonsense_Mutation_p.Q335*|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Nonsense_Mutation_p.Q393*	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	393	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	ACCTGCAGCTGACCATTTAAT	0.353																																					Pancreas(17;87 705 4534 15538 30988)												0													121.0	116.0	118.0					2																	175957797		2203	4300	6503	SO:0001587	stop_gained	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1177C>T	2.37:g.175957797G>A	ENSP00000264110:p.Gln393*		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Nonsense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.Q393*	ENST00000264110.2	37	c.1177	CCDS2262.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.918629	0.99002	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-46.5959	19.2801	0.94050	0.0:0.0:1.0:0.0	.	.	.	.	X	393;335;370;277;335;393;375;375	.	ENSP00000264110:Q393X	Q	-	1	0	ATF2	175666043	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.573000	0.82421	2.553000	0.86117	0.557000	0.71058	CAG	ATF2	-	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP		0.353	ATF2-001	KNOWN	basic|CCDS	protein_coding	ATF2	HGNC	protein_coding	OTTHUMT00000255562.1	G	NM_001880		175957797	-1	no_errors	ENST00000264110	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DPH6	89978	genome.wustl.edu	37	15	35814434	35814434	+	Intron	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:35814434G>A	ENST00000256538.4	-	3	339				DPH6_ENST00000440392.2_Missense_Mutation_p.L120F	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										AAATCTTGGAGATTCAGAGCA	0.423																																																	0													87.0	74.0	78.0					15																	35814434		1566	3580	5146	SO:0001627	intron_variant	89978				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.312+16040C>T	15.37:g.35814434G>A			B3KWG1|Q96HJ6	Missense_Mutation	SNP	pfam_DUF71_ATP-bd_dom	p.L120F	ENST00000256538.4	37	c.358	CCDS10043.1	15	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148866	0.37923	.	.	ENSG00000134146	ENST00000440392	T	0.48201	0.82	5.33	3.43	0.39272	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.20403	N	0.999903	P	0.49090	0.919	P	0.47075	0.536	T	0.29243	-1.0018	8	0.51188	T	0.08	.	8.3224	0.32136	0.0837:0.1569:0.7594:0.0	.	120	B3KWG1	.	F	120	ENSP00000406976:L120F	ENSP00000406976:L120F	L	-	1	0	ATPBD4	33601726	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.306000	0.43673	0.798000	0.33994	0.655000	0.94253	CTC	ATPBD4	-	NULL		0.423	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPBD4	HGNC	protein_coding	OTTHUMT00000251973.1	G	NM_080650		35814434	-1	no_errors	ENST00000440392	ensembl	human	known	70_37	missense	SNP	1.000	A
AURKB	9212	genome.wustl.edu	37	17	8108585	8108585	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:8108585G>T	ENST00000585124.1	-	8	903	c.810C>A	c.(808-810)aaC>aaA	p.N270K	AURKB_ENST00000534871.1_Missense_Mutation_p.N229K|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Missense_Mutation_p.N271K|AURKB_ENST00000578549.1_Missense_Mutation_p.N238K	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						CAAAGGGTGGGTTCCCCACCA	0.592																																					NSCLC(134;1161 2470 43664 51568)												0													150.0	113.0	125.0					17																	8108585		2203	4300	6503	SO:0001583	missense	9212			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.810C>A	17.37:g.8108585G>T	ENSP00000463999:p.Asn270Lys		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.N270K	ENST00000585124.1	37	c.810	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	G	1.047	-0.677086	0.03378	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.62941	-0.01	5.33	3.23	0.37069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095204	0.64402	D	0.000001	T	0.21718	0.0523	N	0.00864	-1.135	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.01	T	0.32322	-0.9911	10	0.02654	T	1	-14.0658	4.6412	0.12550	0.1946:0.1813:0.6241:0.0	.	270;270	C7G533;Q96GD4	.;AURKB_HUMAN	K	270;229	ENSP00000443869:N229K	ENSP00000313950:N270K	N	-	3	2	AURKB	8049310	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	0.495000	0.22483	1.494000	0.48533	0.650000	0.86243	AAC	AURKB	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.592	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	HGNC	protein_coding	OTTHUMT00000226995.2	G	NM_004217		8108585	-1	no_errors	ENST00000585124	ensembl	human	known	70_37	missense	SNP	1.000	T
B3GNT5	84002	genome.wustl.edu	37	3	182987731	182987731	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:182987731A>T	ENST00000326505.3	+	2	675	c.145A>T	c.(145-147)Aga>Tga	p.R49*	B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.R49*|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.R49*|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	49					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATATTCTTACAGATACCTCAT	0.378																																																	0													127.0	125.0	126.0					3																	182987731		2203	4300	6503	SO:0001587	stop_gained	84002			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.145A>T	3.37:g.182987731A>T	ENSP00000316173:p.Arg49*		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Nonsense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.R49*	ENST00000326505.3	37	c.145	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	A	37	6.367999	0.97511	.	.	ENSG00000176597	ENST00000326505;ENST00000464191;ENST00000460419;ENST00000464923;ENST00000465010;ENST00000481531	.	.	.	5.93	4.73	0.59995	.	0.285900	0.20250	N	0.096088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.378	0.60750	0.8692:0.1308:0.0:0.0	.	.	.	.	X	49	.	ENSP00000316173:R49X	R	+	1	2	B3GNT5	184470425	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.654000	0.54453	2.263000	0.75096	0.533000	0.62120	AGA	B3GNT5	-	NULL		0.378	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	A	NM_032047		182987731	+1	no_errors	ENST00000326505	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BAAT	570	genome.wustl.edu	37	9	104133518	104133518	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:104133518C>G	ENST00000395051.3	-	1	239	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	BAAT_ENST00000259407.2_Missense_Mutation_p.E57Q			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	57					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGTCCACCTCACCGAATTCA	0.458																																																	0													112.0	108.0	109.0					9																	104133518		2203	4300	6503	SO:0001583	missense	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.169G>C	9.37:g.104133518C>G	ENSP00000378491:p.Glu57Gln		Q3B7W9|Q96L31	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.E57Q	ENST00000395051.3	37	c.169	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912013	0.17907	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.71341	-0.56;-0.56	4.41	3.52	0.40303	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.091251	0.46145	D	0.000313	T	0.77164	0.4090	M	0.63169	1.94	0.09310	N	0.999999	D	0.71674	0.998	D	0.68765	0.96	T	0.65327	-0.6195	10	0.44086	T	0.13	-11.3041	6.6594	0.23007	0.0:0.7906:0.0:0.2094	.	57	Q14032	BAAT_HUMAN	Q	57	ENSP00000259407:E57Q;ENSP00000378491:E57Q	ENSP00000259407:E57Q	E	-	1	0	BAAT	103173339	0.136000	0.22515	0.678000	0.29963	0.121000	0.20230	1.112000	0.31172	1.063000	0.40649	-0.136000	0.14681	GAG	BAAT	-	pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain		0.458	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	C			104133518	-1	no_errors	ENST00000259407	ensembl	human	known	70_37	missense	SNP	0.275	G
BBS10	79738	genome.wustl.edu	37	12	76740006	76740006	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:76740006G>T	ENST00000393262.3	-	2	1842	c.1759C>A	c.(1759-1761)Cag>Aag	p.Q587K		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	587					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGGTAACTCTGGGAAGTACCC	0.363									Bardet-Biedl syndrome																																								0													107.0	103.0	104.0					12																	76740006		2203	4300	6503	SO:0001583	missense	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1759C>A	12.37:g.76740006G>T	ENSP00000376946:p.Gln587Lys		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.Q587K	ENST00000393262.3	37	c.1759	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	G	5.033	0.191793	0.09547	.	.	ENSG00000179941	ENST00000393262	D	0.87029	-2.2	4.54	3.63	0.41609	.	0.915862	0.09210	N	0.833346	D	0.83599	0.5289	M	0.63843	1.955	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.67417	-0.5676	10	0.14252	T	0.57	9.92	9.3381	0.38062	0.0:0.1573:0.6799:0.1629	.	587	Q8TAM1	BBS10_HUMAN	K	587	ENSP00000376946:Q587K	ENSP00000376946:Q587K	Q	-	1	0	BBS10	75264137	0.078000	0.21339	0.006000	0.13384	0.836000	0.47400	2.901000	0.48695	1.260000	0.44134	0.650000	0.86243	CAG	BBS10	-	superfamily_Cpn60/TCP-1		0.363	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	G	NM_024685		76740006	-1	no_errors	ENST00000393262	ensembl	human	known	70_37	missense	SNP	0.004	T
BCAP31	10134	genome.wustl.edu	37	X	152981118	152981118	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:152981118C>T	ENST00000345046.6	-	4	627	c.220G>A	c.(220-222)Gat>Aat	p.D74N	BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.D74N|BCAP31_ENST00000458587.2_Missense_Mutation_p.D141N	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	74					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACATCATCATACTTCCGA	0.537																																																	0													187.0	144.0	158.0					X																	152981118		2203	4300	6503	SO:0001583	missense	10134			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.220G>A	X.37:g.152981118C>T	ENSP00000343458:p.Asp74Asn		B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	pfam_Bap31	p.D141N	ENST00000345046.6	37	c.421	CCDS14727.1	X	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669529	0.47677	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.38	5.38	0.77491	.	0.090008	0.85682	D	0.000000	T	0.55049	0.1896	N	0.12887	0.27	0.34779	D	0.734556	D;D	0.76494	0.999;0.979	D;P	0.78314	0.991;0.76	T	0.63457	-0.6633	9	0.26408	T	0.33	-22.1497	16.8983	0.86106	0.0:1.0:0.0:0.0	.	74;141	P51572;B3KQ79	BAP31_HUMAN;.	N	74;74;141;141;74;74;74;74;74	.	ENSP00000343458:D74N	D	-	1	0	BCAP31	152634312	0.993000	0.37304	0.147000	0.22382	0.251000	0.25915	2.984000	0.49353	2.252000	0.74401	0.468000	0.43344	GAT	BCAP31	-	pfam_Bap31		0.537	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAP31	HGNC	protein_coding	OTTHUMT00000061071.1	C	NM_005745		152981118	-1	no_errors	ENST00000458587	ensembl	human	known	70_37	missense	SNP	0.915	T
BIN3	55909	genome.wustl.edu	37	8	22478974	22478974	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:22478974G>A	ENST00000276416.6	-	9	791	c.723C>T	c.(721-723)ctC>ctT	p.L241L	BIN3_ENST00000399977.4_Silent_p.L193L|CCAR2_ENST00000308511.4_3'UTR|BIN3_ENST00000519513.1_Silent_p.L187L|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	241					actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGAGCTCACTGAGTTTGGCCT	0.577																																																	0													72.0	82.0	79.0					8																	22478974		2117	4224	6341	SO:0001819	synonymous_variant	55909				CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.723C>T	8.37:g.22478974G>A			Q9BVG2|Q9NVY9	Silent	SNP	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom	p.L241	ENST00000276416.6	37	c.723	CCDS47825.1	8																																																																																			BIN3	-	NULL		0.577	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	HGNC	protein_coding	OTTHUMT00000375895.1	G			22478974	-1	no_errors	ENST00000276416	ensembl	human	known	70_37	silent	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	22	49834802	49834802	+	IGR	SNP	G	G	A	rs577949797	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr22:49834802G>A								C22orf34 (15716 upstream) : MIR3667 (102238 downstream)																							cctgtccggcgctggacgttg	0.612													-|||	3	0.000599042	0.0	0.0029	5008	,	,		19344	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	348645																															22.37:g.49834802G>A				Missense_Mutation	SNP	NULL	p.R39C		37	c.115		22																																																																																			C22orf34	-	NULL	0	0.612					C22orf34	HGNC			G			49834802	-1	no_errors	ENST00000414287	ensembl	human	known	70_37	missense	SNP	0.001	A
PQLC2L	152078	genome.wustl.edu	37	3	157318145	157318145	+	3'UTR	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:157318145C>G	ENST00000449199.2	+	0	607				C3orf55_ENST00000426338.2_Missense_Mutation_p.S126C|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN												breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			ATAAATACTTCTAAGAGAAGA	0.323																																																	0													79.0	72.0	74.0					3																	157318145		692	1591	2283	SO:0001624	3_prime_UTR_variant	152078																														ENST00000449199.2:c.*58C>G	3.37:g.157318145C>G			C9JP04|C9JXB5|Q8N6Q6	Missense_Mutation	SNP	NULL	p.S126C	ENST00000449199.2	37	c.377	CCDS46943.1	3	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134384	0.37630	.	.	ENSG00000174899	ENST00000426338	T	0.54279	0.58	3.3	1.37	0.22104	.	.	.	.	.	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.25433	-1.0132	9	0.87932	D	0	.	3.8416	0.08917	0.2363:0.6339:0.0:0.1298	.	126	C9JXB5	.	C	126	ENSP00000387918:S126C	ENSP00000387918:S126C	S	+	2	0	C3orf55	158800839	0.006000	0.16342	0.022000	0.16811	0.168000	0.22595	0.196000	0.17176	0.360000	0.24265	-0.150000	0.13652	TCT	C3orf55	-	NULL		0.323	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	HGNC	protein_coding	OTTHUMT00000352018.1	C			157318145	+1	no_errors	ENST00000426338	ensembl	human	known	70_37	missense	SNP	0.029	G
TMEM243	79161	genome.wustl.edu	37	7	86825918	86825918	+	3'UTR	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:86825918G>A	ENST00000433078.1	-	0	832				TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_3'UTR			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial							integral component of membrane (GO:0016021)											GTATCATTTTGAAGAGTCCTG	0.363																																																	0													81.0	79.0	80.0					7																	86825918		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79161				CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"""MDR1 and mitochondrial taxol resistance associated gene"""		"""chromosome 7 open reading frame 23"""	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.*34C>T	7.37:g.86825918G>A			A4D1C6|B2R9I4|D6W5P1	RNA	SNP	-	NULL	ENST00000433078.1	37	NULL	CCDS5602.1	7																																																																																			C7orf23	-	-		0.363	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf23	HGNC	protein_coding	OTTHUMT00000334412.1	G	NM_024315		86825918	-1	no_errors	ENST00000481425	ensembl	human	known	70_37	rna	SNP	0.445	A
C9orf171	389799	genome.wustl.edu	37	9	135374143	135374143	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:135374143G>C	ENST00000343036.2	+	3	413	c.365G>C	c.(364-366)gGa>gCa	p.G122A	C9orf171_ENST00000393215.3_Missense_Mutation_p.G86A|C9orf171_ENST00000393216.2_Missense_Mutation_p.G86A	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	122										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TTTAATTATGGACTCTACATC	0.577																																																	0													30.0	30.0	30.0					9																	135374143		2203	4300	6503	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.365G>C	9.37:g.135374143G>C	ENSP00000343290:p.Gly122Ala		Q147X1	Missense_Mutation	SNP	NULL	p.G122A	ENST00000343036.2	37	c.365	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469700	0.63625	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.66638	-0.22;-0.22;-0.22	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.61703	1.905	0.47547	D	0.99945	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82360	-0.0496	10	0.87932	D	0	.	17.9399	0.89023	0.0:0.0:1.0:0.0	.	86;122	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	A	86;122;86	ENSP00000376908:G86A;ENSP00000343290:G122A;ENSP00000376909:G86A	ENSP00000343290:G122A	G	+	2	0	C9orf171	134363964	1.000000	0.71417	0.972000	0.41901	0.398000	0.30690	6.140000	0.71738	2.545000	0.85829	0.655000	0.94253	GGA	C9orf171	-	NULL		0.577	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	G	NM_207417		135374143	+1	no_errors	ENST00000343036	ensembl	human	known	70_37	missense	SNP	1.000	C
CACNB4	785	genome.wustl.edu	37	2	152727085	152727085	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:152727085C>T	ENST00000539935.1	-	8	726	c.659G>A	c.(658-660)cGt>cAt	p.R220H	CACNB4_ENST00000534999.1_Missense_Mutation_p.R186H|CACNB4_ENST00000360283.6_Missense_Mutation_p.R187H|CACNB4_ENST00000201943.5_Missense_Mutation_p.R220H|CACNB4_ENST00000397327.2_Missense_Mutation_p.R173H|CACNB4_ENST00000427385.1_Missense_Mutation_p.R202H	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	220					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R220H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCACCGGACGCATTGACGG	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											85.0	86.0	86.0					2																	152727085		2101	4215	6316	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.659G>A	2.37:g.152727085C>T	ENSP00000438949:p.Arg220His		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.R221H	ENST00000539935.1	37	c.662	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.720892	0.96839	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.91	5.91	0.95273	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.999;0.995	D	0.83531	0.0091	10	0.87932	D	0	-11.1915	20.2983	0.98569	0.0:1.0:0.0:0.0	.	220;186;220;202;186	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	H	220;187;177;215;186;173;202;220;221	ENSP00000438949:R220H;ENSP00000353425:R187H;ENSP00000390161:R215H;ENSP00000443893:R186H;ENSP00000380490:R173H;ENSP00000410978:R202H;ENSP00000201943:R220H	ENSP00000201943:R220H	R	-	2	0	CACNB4	152435331	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.746000	0.85057	2.802000	0.96397	0.655000	0.94253	CGT	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	C	NM_000726.3		152727085	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC129	223075	genome.wustl.edu	37	7	31692144	31692144	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:31692144C>T	ENST00000407970.3	+	14	2874	c.2836C>T	c.(2836-2838)Ctc>Ttc	p.L946F	CCDC129_ENST00000451887.2_Missense_Mutation_p.L972F|CCDC129_ENST00000409210.1_Missense_Mutation_p.L854F|CCDC129_ENST00000319386.3_Missense_Mutation_p.L798F	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	946										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCTGGAGGTTCTCACAGCAGA	0.418																																																	0													32.0	29.0	30.0					7																	31692144		2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2836C>T	7.37:g.31692144C>T	ENSP00000384416:p.Leu946Phe		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.L972F	ENST00000407970.3	37	c.2914	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928416	0.52759	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.26223	1.75;2.05;2.0;1.78	4.6	3.71	0.42584	.	0.380111	0.19465	N	0.113620	T	0.46639	0.1403	M	0.69823	2.125	0.09310	N	1	D;B;B;D	0.89917	1.0;0.385;0.385;1.0	D;B;B;D	0.79108	0.992;0.208;0.208;0.984	T	0.25328	-1.0135	10	0.72032	D	0.01	-6.3662	9.4505	0.38723	0.0:0.8981:0.0:0.1019	.	972;956;946;798	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	F	798;946;972;956;854	ENSP00000313062:L798F;ENSP00000384416:L946F;ENSP00000395835:L972F;ENSP00000387214:L854F	ENSP00000313062:L798F	L	+	1	0	CCDC129	31658669	0.033000	0.19621	0.006000	0.13384	0.343000	0.28985	1.411000	0.34702	1.247000	0.43917	-0.291000	0.09656	CTC	CCDC129	-	NULL		0.418	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	C	NM_194300		31692144	+1	no_errors	ENST00000451887	ensembl	human	known	70_37	missense	SNP	0.017	T
CCDC47	57003	genome.wustl.edu	37	17	61842130	61842130	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:61842130G>C	ENST00000225726.5	-	3	724	c.342C>G	c.(340-342)agC>agG	p.S114R	CCDC47_ENST00000582252.1_Missense_Mutation_p.S114R|CCDC47_ENST00000403162.3_Missense_Mutation_p.S114R	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	114					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CTTTATTTTTGCTAGAAGAAG	0.358																																																	0													215.0	188.0	197.0					17																	61842130		2201	4299	6500	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.342C>G	17.37:g.61842130G>C	ENSP00000225726:p.Ser114Arg		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	pfam_DUF1682	p.S114R	ENST00000225726.5	37	c.342	CCDS11643.1	17	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169830	0.38315	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.49	4.5	0.54988	.	0.278864	0.48286	D	0.000184	T	0.45276	0.1334	L	0.29908	0.895	0.44500	D	0.997445	B;B	0.25048	0.039;0.117	B;B	0.29598	0.064;0.104	T	0.26467	-1.0102	9	0.21014	T	0.42	-6.1314	13.5279	0.61605	0.077:0.0:0.923:0.0	.	114;114	Q96A33-2;Q96A33	.;CCD47_HUMAN	R	114	.	ENSP00000225726:S114R	S	-	3	2	CCDC47	59195862	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.800000	0.47900	2.859000	0.98148	0.591000	0.81541	AGC	CCDC47	-	NULL		0.358	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2	G	NM_020198		61842130	-1	no_errors	ENST00000225726	ensembl	human	known	70_37	missense	SNP	1.000	C
CD36	948	genome.wustl.edu	37	7	80302689	80302689	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:80302689G>T	ENST00000435819.1	+	16	1902	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N	CD36_ENST00000544133.1_3'UTR|CD36_ENST00000394788.3_Missense_Mutation_p.K406N|CD36_ENST00000433696.2_Missense_Mutation_p.K367N|CD36_ENST00000447544.2_Missense_Mutation_p.K406N|CD36_ENST00000534394.1_Missense_Mutation_p.K330N|CD36_ENST00000432207.1_Missense_Mutation_p.K406N|CD36_ENST00000309881.7_Missense_Mutation_p.K406N|CD36_ENST00000538969.1_Missense_Mutation_p.K346N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	406					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AGAATCTGAAGAGGAACTATA	0.249																																																	0													69.0	72.0	71.0					7																	80302689		2202	4271	6473	SO:0001583	missense	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1218G>T	7.37:g.80302689G>T	ENSP00000399421:p.Lys406Asn		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.K406N	ENST00000435819.1	37	c.1218	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734928	0.30774	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.83	-0.116	0.13555	.	0.320334	0.35970	N	0.002865	T	0.61223	0.2330	M	0.71581	2.175	0.23893	N	0.996549	B	0.24618	0.107	B	0.30716	0.119	T	0.50381	-0.8835	9	.	.	.	-9.2355	1.3805	0.02229	0.3128:0.135:0.3942:0.158	.	406	P16671	CD36_HUMAN	N	406;406;330;406;406;406;406;346;367	ENSP00000399421:K406N;ENSP00000308165:K406N;ENSP00000431296:K330N;ENSP00000378268:K406N;ENSP00000415743:K406N;ENSP00000411411:K406N;ENSP00000392298:K406N;ENSP00000439543:K346N;ENSP00000401863:K367N	.	K	+	3	2	CD36	80140625	0.766000	0.28496	0.007000	0.13788	0.163000	0.22366	1.007000	0.29860	0.045000	0.15804	0.655000	0.94253	AAG	CD36	-	pfam_CD36,prints_CD36_antigen		0.249	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	G	NM_001001547		80302689	+1	no_errors	ENST00000309881	ensembl	human	known	70_37	missense	SNP	0.019	T
CEP104	9731	genome.wustl.edu	37	1	3746490	3746490	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:3746490C>A	ENST00000378230.3	-	14	2232	c.1908G>T	c.(1906-1908)atG>atT	p.M636I	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	636						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTCTGTACATGTCCAAAA	0.483																																																	0													133.0	128.0	130.0					1																	3746490		2203	4300	6503	SO:0001583	missense	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1908G>T	1.37:g.3746490C>A	ENSP00000367476:p.Met636Ile		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	p.M636I	ENST00000378230.3	37	c.1908	CCDS30571.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569897	0.45798	.	.	ENSG00000116198	ENST00000378230	T	0.63096	-0.02	5.46	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.324016	0.36893	N	0.002342	T	0.56470	0.1987	M	0.62723	1.935	0.80722	D	1	B	0.19706	0.038	B	0.21151	0.033	T	0.53041	-0.8494	10	0.32370	T	0.25	.	9.3113	0.37908	0.0:0.7796:0.1437:0.0766	.	636	O60308	CE104_HUMAN	I	636	ENSP00000367476:M636I	ENSP00000367476:M636I	M	-	3	0	CEP104	3736350	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	2.918000	0.48829	1.304000	0.44892	0.655000	0.94253	ATG	CEP104	-	superfamily_ARM-type_fold		0.483	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	C	NM_014704		3746490	-1	no_errors	ENST00000378230	ensembl	human	known	70_37	missense	SNP	1.000	A
CDCP2	200008	genome.wustl.edu	37	1	54602317	54602317	+	IGR	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:54602317C>T	ENST00000371330.1	-	0	2723				CDCP2_ENST00000530059.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2							extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GACTCAGTGCCGCAGGTATCA	0.632																																																	0																																										SO:0001628	intergenic_variant	200008				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307		1.37:g.54602317C>T			Q6ZWJ3	RNA	SNP	-	NULL	ENST00000371330.1	37	NULL	CCDS588.2	1																																																																																			CDCP2	-	-		0.632	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CDCP2	HGNC	protein_coding	OTTHUMT00000022209.2	C	NM_201546		54602317	-1	no_errors	ENST00000530059	ensembl	human	putative	70_37	rna	SNP	1.000	T
CERCAM	51148	genome.wustl.edu	37	9	131186429	131186429	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:131186429G>C	ENST00000372838.4	+	4	837	c.439G>C	c.(439-441)Gac>Cac	p.D147H	CERCAM_ENST00000372842.1_Missense_Mutation_p.D69H	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	147					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGCAGACACAGACAACATTCT	0.592																																																	0													108.0	117.0	114.0					9																	131186429		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.439G>C	9.37:g.131186429G>C	ENSP00000361929:p.Asp147His		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.D147H	ENST00000372838.4	37	c.439	CCDS6901.2	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324456	0.81580	.	.	ENSG00000167123	ENST00000372842;ENST00000447915;ENST00000420512;ENST00000372838;ENST00000411852;ENST00000413863	D;D;D	0.98090	-4.71;-4.71;-4.71	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99709	1.1006	10	0.87932	D	0	-8.8241	16.7717	0.85539	0.0:0.0:1.0:0.0	.	147	Q5T4B2	GT253_HUMAN	H	69;69;69;147;69;100	ENSP00000361933:D69H;ENSP00000416676:D69H;ENSP00000361929:D147H	ENSP00000361929:D147H	D	+	1	0	CERCAM	130226250	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	9.601000	0.98297	2.529000	0.85273	0.591000	0.81541	GAC	CERCAM	-	NULL		0.592	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	G	NM_016174		131186429	+1	no_errors	ENST00000372838	ensembl	human	known	70_37	missense	SNP	1.000	C
CHD4	1108	genome.wustl.edu	37	12	6690234	6690234	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:6690234C>T	ENST00000357008.2	-	33	5048	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000309577.6_Missense_Mutation_p.E1657K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1622K|CHD4_ENST00000544484.1_Missense_Mutation_p.E1654K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1629	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCATAGGTTCCTCTGTTCTC	0.507																																					Colon(32;586 792 4568 16848 45314)												0													266.0	267.0	267.0					12																	6690234		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4885G>A	12.37:g.6690234C>T	ENSP00000349508:p.Glu1629Lys		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1657K	ENST00000357008.2	37	c.4969	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838804	0.51057	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90133	-2.62;-2.6;-2.62;-2.6	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	M	0.64997	1.995	0.39222	D	0.963521	B;B;B	0.11235	0.004;0.002;0.004	B;B;B	0.13407	0.009;0.004;0.009	T	0.82442	-0.0455	10	0.20046	T	0.44	.	12.0489	0.53495	0.0:0.921:0.0:0.079	.	1657;1629;1622	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	1654;1622;1657;1629;1603	ENSP00000440392:E1654K;ENSP00000440542:E1622K;ENSP00000312419:E1657K;ENSP00000349508:E1629K	ENSP00000312419:E1657K	E	-	1	0	CHD4	6560495	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.705000	0.54823	2.720000	0.93068	0.655000	0.94253	GAA	CHD4	-	NULL		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6690234	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	T
CHRM3	1131	genome.wustl.edu	37	1	240071327	240071327	+	Silent	SNP	T	T	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:240071327T>A	ENST00000255380.4	+	5	1355	c.576T>A	c.(574-576)gcT>gcA	p.A192A		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	192					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCGGTCTGGCTTGGGTCATCT	0.507																																																	0													194.0	201.0	199.0					1																	240071327		2203	4300	6503	SO:0001819	synonymous_variant	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.576T>A	1.37:g.240071327T>A			Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.A192	ENST00000255380.4	37	c.576	CCDS1616.1	1																																																																																			CHRM3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	T	NM_000740		240071327	+1	no_errors	ENST00000255380	ensembl	human	known	70_37	silent	SNP	0.779	A
COASY	80347	genome.wustl.edu	37	17	40716556	40716556	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:40716556C>T	ENST00000393818.2	+	3	1464	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	MLX_ENST00000435881.2_5'Flank|COASY_ENST00000421097.2_Silent_p.F336F|COASY_ENST00000590958.1_Silent_p.F365F|COASY_ENST00000449624.1_Silent_p.F41F|MLX_ENST00000246912.4_5'Flank|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Silent_p.F336F|MLX_ENST00000346833.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	336	Phosphopantetheine adenylyltransferase.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCTCCAGCTTCCGCCAGCGAA	0.547																																																	0													60.0	61.0	61.0					17																	40716556		2203	4300	6503	SO:0001819	synonymous_variant	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1008C>T	17.37:g.40716556C>T			B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.F365	ENST00000393818.2	37	c.1095	CCDS11429.1	17																																																																																			COASY	-	pfam_Cytidylyltransf		0.547	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	C	NM_025233		40716556	+1	no_errors	ENST00000590958	ensembl	human	known	70_37	silent	SNP	0.550	T
COL11A1	1301	genome.wustl.edu	37	1	103488543	103488543	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:103488543C>T	ENST00000370096.3	-	8	1312	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.V295I|COL11A1_ENST00000358392.2_Missense_Mutation_p.V346I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	334	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTCTTCAACTGGATTTGGC	0.318																																																	0													49.0	52.0	51.0					1																	103488543		2202	4295	6497	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1000G>A	1.37:g.103488543C>T	ENSP00000359114:p.Val334Ile		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.V346I	ENST00000370096.3	37	c.1036	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014689	0.35511	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88124	-2.34;-0.58;-2.31;-0.56	5.67	4.77	0.60923	.	0.368707	0.27473	N	0.019205	T	0.75766	0.3894	L	0.54323	1.7	0.43351	D	0.995419	P;P;B	0.35872	0.525;0.525;0.39	B;B;B	0.33454	0.115;0.164;0.079	T	0.76138	-0.3069	10	0.35671	T	0.21	.	12.9234	0.58245	0.0:0.925:0.0:0.075	.	295;346;334	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	I	334;346;295;346	ENSP00000359114:V334I;ENSP00000351163:V346I;ENSP00000302551:V295I;ENSP00000408640:V346I	ENSP00000302551:V295I	V	-	1	0	COL11A1	103261131	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.937000	0.40193	1.399000	0.46721	0.643000	0.83706	GTT	COL11A1	-	NULL		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630		103488543	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	T
CPAMD8	27151	genome.wustl.edu	37	19	17086050	17086050	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:17086050C>T	ENST00000443236.1	-	17	2099	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D429N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	643						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACATCATAATCTTCCAGTTCC	0.552																																																	0													38.0	39.0	38.0					19																	17086050		2035	4180	6215	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2068G>A	19.37:g.17086050C>T	ENSP00000402505:p.Asp690Asn		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.D690N	ENST00000443236.1	37	c.2068	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197025	0.58126	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T	0.56941	0.43	2.78	2.78	0.32641	.	0.274685	0.28544	U	0.014968	T	0.42787	0.1218	L	0.47716	1.5	0.34951	D	0.751266	P	0.34462	0.454	B	0.32677	0.15	T	0.53034	-0.8495	10	0.19147	T	0.46	.	13.8159	0.63292	0.0:1.0:0.0:0.0	.	643	Q8IZJ3	CPMD8_HUMAN	N	690;429	ENSP00000373577:D429N	ENSP00000291440:D690N	D	-	1	0	CPAMD8	16947050	1.000000	0.71417	0.593000	0.28771	0.725000	0.41563	4.778000	0.62368	1.285000	0.44548	0.555000	0.69702	GAT	CPAMD8	-	NULL		0.552	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	C	NM_015692		17086050	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	missense	SNP	1.000	T
CREBBP	1387	genome.wustl.edu	37	16	3786748	3786748	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:3786748G>C	ENST00000262367.5	-	27	5272	c.4463C>G	c.(4462-4464)cCa>cGa	p.P1488R	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1450R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1488	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P1488R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGATCAGGTGGGTGGCAATG	0.502			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											244.0	209.0	221.0					16																	3786748		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4463C>G	16.37:g.3786748G>C	ENSP00000262367:p.Pro1488Arg		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P1488R	ENST00000262367.5	37	c.4463	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	20.4	3.992657	0.74703	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.97924	-4.61;-4.61	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98942	1.0791	10	0.87932	D	0	-17.1968	18.1954	0.89819	0.0:0.0:1.0:0.0	.	1518;1488	Q4LE28;Q92793	.;CBP_HUMAN	R	1488;1518;1450;77	ENSP00000262367:P1488R;ENSP00000371502:P1450R	ENSP00000262367:P1488R	P	-	2	0	CREBBP	3726749	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.607000	0.88179	0.561000	0.74099	CCA	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3786748	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	C
CSGALNACT2	55454	genome.wustl.edu	37	10	43655971	43655972	+	Frame_Shift_Ins	INS	-	-	TCATCTCA			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:43655971_43655972insTCATCTCA	ENST00000374466.3	+	4	1243_1244	c.908_909insTCATCTCA	c.(907-912)attcatfs	p.-304fs	CSGALNACT2_ENST00000374464.1_Frame_Shift_Ins_p.-304fs	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACAAGAAGATTCATCTCACAG	0.376																																																	0																																										SO:0001589	frameshift_variant	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.909_916dupTCATCTCA	10.37:g.43655972_43655979dupTCATCTCA	ENSP00000363590:p.His304fs		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Frame_Shift_Ins	INS	pfam_Chond_GalNAc	p.T306fs	ENST00000374466.3	37	c.908_909	CCDS7201.1	10																																																																																			CSGALNACT2	-	pfam_Chond_GalNAc		0.376	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	-	NM_018590		43655972	+1	no_errors	ENST00000374466	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.999	TCATCTCA
CTNND2	1501	genome.wustl.edu	37	5	11082931	11082931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:11082931G>A	ENST00000304623.8	-	16	2854	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R798*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R552*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R831*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R456*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	889					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R889*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTCTTTTCGGACAGCGGCT	0.537																																																	1	Substitution - Nonsense(1)	lung(1)											80.0	72.0	75.0					5																	11082931		2203	4300	6503	SO:0001587	stop_gained	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2665C>T	5.37:g.11082931G>A	ENSP00000307134:p.Arg889*		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R889*	ENST00000304623.8	37	c.2665	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.535527	0.99423	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1838	18.4893	0.90841	0.0:0.0:1.0:0.0	.	.	.	.	X	889;831;798;456;552	.	ENSP00000307134:R889X	R	-	1	2	CTNND2	11135931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.525000	0.73795	2.439000	0.82584	0.563000	0.77884	CGA	CTNND2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.537	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	G	NM_001332		11082931	-1	no_errors	ENST00000304623	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CXorf30	645090	genome.wustl.edu	37	X	36402963	36402963	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:36402963G>A	ENST00000378657.4	+	18	2392	c.1744G>A	c.(1744-1746)Gtg>Atg	p.V582M	RP11-87M18.2_ENST00000455438.2_RNA	NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	582										breast(1)|lung(2)|stomach(1)	4						TCCAACTACCGTGCCACCAAA	0.383																																																	0													63.0	48.0	53.0					X																	36402963		692	1591	2283	SO:0001583	missense	645090				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.1744G>A	X.37:g.36402963G>A	ENSP00000367926:p.Val582Met			Missense_Mutation	SNP	NULL	p.V582M	ENST00000378657.4	37	c.1744	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	g	10.12	1.264239	0.23136	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.47528	0.84;0.84	5.72	-7.36	0.01417	.	2.768400	0.01015	N	0.003885	T	0.20820	0.0501	N	0.05230	-0.09	0.09310	N	1	B	0.33694	0.421	B	0.21360	0.034	T	0.15665	-1.0429	10	0.38643	T	0.18	8.4257	7.9561	0.30045	0.3645:0.2047:0.4309:0.0	.	582	A6PW82	CX030_HUMAN	M	867;582	ENSP00000367922:V867M;ENSP00000367926:V582M	ENSP00000367922:V867M	V	+	1	0	CXorf30	36312884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.874000	0.04210	-1.483000	0.01858	-2.570000	0.00171	GTG	CXorf30	-	NULL		0.383	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		G	NP_001092313		36402963	+1	no_errors	ENST00000378657	ensembl	human	known	70_37	missense	SNP	0.000	A
CYP2C9	1559	genome.wustl.edu	37	10	96741062	96741062	+	Missense_Mutation	SNP	C	C	T	rs578144976	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:96741062C>T	ENST00000260682.6	+	7	1096	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	362					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CATTGACCTTCTCCCCACCAG	0.507																																					Ovarian(54;1266 1406 16072 35076)												0													191.0	156.0	168.0					10																	96741062		2203	4300	6503	SO:0001583	missense	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1084C>T	10.37:g.96741062C>T	ENSP00000260682:p.Leu362Phe		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L362F	ENST00000260682.6	37	c.1084	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	6.220	0.408733	0.11812	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.70045	-0.45	3.67	-7.34	0.01427	.	0.933100	0.08853	U	0.884255	T	0.61274	0.2334	M	0.73372	2.23	0.09310	N	0.999998	B;B	0.22003	0.063;0.063	B;B	0.19666	0.026;0.026	T	0.56013	-0.8049	10	0.62326	D	0.03	.	10.3238	0.43781	0.194:0.5352:0.2708:0.0	.	362;362	Q5VX92;P11712	.;CP2C9_HUMAN	F	362	ENSP00000260682:L362F	ENSP00000260682:L362F	L	+	1	0	CYP2C9	96731052	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-4.895000	0.00172	-5.371000	0.00016	-0.856000	0.03024	CTC	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.507	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	C	NM_000771		96741062	+1	no_errors	ENST00000260682	ensembl	human	known	70_37	missense	SNP	0.000	T
DCTN1	1639	genome.wustl.edu	37	2	74590169	74590169	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:74590169G>C	ENST00000361874.3	-	29	3798	c.3481C>G	c.(3481-3483)Caa>Gaa	p.Q1161E	DCTN1_ENST00000409567.3_Missense_Mutation_p.Q1136E|DCTN1_ENST00000407639.2_Missense_Mutation_p.Q1027E|DCTN1_ENST00000409438.1_Missense_Mutation_p.Q1022E|DCTN1_ENST00000409240.1_Missense_Mutation_p.Q1119E|DCTN1_ENST00000409868.1_Missense_Mutation_p.Q1139E|DCTN1_ENST00000495643.1_5'Flank|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.Q74E|DCTN1_ENST00000394003.3_Missense_Mutation_p.Q1154E	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCTCAATTGATTCAATGTC	0.547																																																	0													130.0	110.0	117.0					2																	74590169		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3481C>G	2.37:g.74590169G>C	ENSP00000354791:p.Gln1161Glu		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.Q1161E	ENST00000361874.3	37	c.3481	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085346	0.36758	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77229	-0.65;-0.84;-0.65;-0.66;-1.08;-0.85;-0.86	5.09	5.09	0.68999	.	0.000000	0.41001	D	0.000969	T	0.71953	0.3401	L	0.48642	1.525	0.54753	D	0.999989	B;B;B;B;B;B;B	0.31435	0.087;0.323;0.131;0.064;0.141;0.206;0.323	B;B;B;B;B;B;B	0.27380	0.033;0.079;0.026;0.031;0.072;0.058;0.079	T	0.70219	-0.4932	10	0.35671	T	0.21	-8.3827	17.4365	0.87554	0.0:0.0:1.0:0.0	.	1136;1119;1161;1154;1027;1022;1144	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	E	1161;1154;1144;1027;1022;1119;1139;1136	ENSP00000354791:Q1161E;ENSP00000377571:Q1154E;ENSP00000384844:Q1027E;ENSP00000387270:Q1022E;ENSP00000386406:Q1119E;ENSP00000387327:Q1139E;ENSP00000386843:Q1136E	ENSP00000354791:Q1161E	Q	-	1	0	DCTN1	74443677	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	7.138000	0.77305	2.633000	0.89246	0.655000	0.94253	CAA	DCTN1	-	NULL		0.547	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	G	NM_004082		74590169	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	C
DDC	1644	genome.wustl.edu	37	7	50596916	50596916	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:50596916G>A	ENST00000444124.2	-	5	760	c.560C>T	c.(559-561)tCa>tTa	p.S187L	DDC_ENST00000380984.4_Missense_Mutation_p.S187L|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.S187L|DDC_ENST00000426377.1_Missense_Mutation_p.S109L|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	187					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CTGATCGGATGAGTAAGCCAC	0.537																																																	0													88.0	82.0	84.0					7																	50596916		2203	4300	6503	SO:0001583	missense	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.560C>T	7.37:g.50596916G>A	ENSP00000403644:p.Ser187Leu		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.S187L	ENST00000444124.2	37	c.560	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	G	9.630	1.136165	0.21123	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.95	3.14	0.36123	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.002100	0.08041	N	0.995133	T	0.48314	0.1493	L	0.49126	1.545	0.09310	N	1	B	0.26845	0.161	P	0.45829	0.494	T	0.56378	-0.7989	10	0.87932	D	0	-11.0193	9.4991	0.39006	0.0798:0.1438:0.7764:0.0	.	187	P20711	DDC_HUMAN	L	187;109;187;187	ENSP00000350616:S187L;ENSP00000395069:S109L;ENSP00000403644:S187L;ENSP00000370371:S187L	ENSP00000350616:S187L	S	-	2	0	DDC	50564410	0.932000	0.31603	0.008000	0.14137	0.131000	0.20780	5.474000	0.66781	0.668000	0.31126	0.655000	0.94253	TCA	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.537	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1	G			50596916	-1	no_errors	ENST00000357936	ensembl	human	known	70_37	missense	SNP	0.019	A
DIAPH1	1729	genome.wustl.edu	37	5	140963701	140963701	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:140963701G>A	ENST00000398557.4	-	4	532	c.392C>T	c.(391-393)aCc>aTc	p.T131I	DIAPH1_ENST00000518047.1_Missense_Mutation_p.T122I|DIAPH1_ENST00000398562.2_Missense_Mutation_p.T122I|DIAPH1_ENST00000389054.3_Missense_Mutation_p.T131I|DIAPH1_ENST00000520569.1_Missense_Mutation_p.T77I|DIAPH1_ENST00000253811.6_Missense_Mutation_p.T131I|DIAPH1_ENST00000389057.5_Missense_Mutation_p.T122I|DIAPH1_ENST00000398566.3_Missense_Mutation_p.T122I	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	131	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTTGGAGGTGTACAAGTA	0.453																																																	0													99.0	96.0	97.0					5																	140963701		1922	4129	6051	SO:0001583	missense	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.392C>T	5.37:g.140963701G>A	ENSP00000381565:p.Thr131Ile		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.T131I	ENST00000398557.4	37	c.392	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001763	0.74932	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.6	5.6	0.85130	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.067529	0.56097	D	0.000024	D	0.92896	0.7740	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.92900	0.6338	10	0.59425	D	0.04	.	18.3847	0.90463	0.0:0.0:1.0:0.0	.	122;131	E9PEZ2;O60610	.;DIAP1_HUMAN	I	131;77;122;122;122;131;131;122;77	ENSP00000373706:T131I;ENSP00000429282:T77I;ENSP00000381570:T122I;ENSP00000373709:T122I;ENSP00000381572:T122I;ENSP00000381565:T131I;ENSP00000253811:T131I;ENSP00000428268:T122I;ENSP00000430587:T77I	ENSP00000253811:T131I	T	-	2	0	DIAPH1	140943885	1.000000	0.71417	0.996000	0.52242	0.343000	0.28985	8.395000	0.90188	2.642000	0.89623	0.491000	0.48974	ACC	DIAPH1	-	pfam_Drf_GTPase-bd		0.453	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		G	NM_005219		140963701	-1	no_errors	ENST00000253811	ensembl	human	known	70_37	missense	SNP	1.000	A
DLC1	10395	genome.wustl.edu	37	8	12958088	12958088	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:12958088G>A	ENST00000276297.4	-	9	2167	c.1758C>T	c.(1756-1758)agC>agT	p.S586S	DLC1_ENST00000512044.2_Silent_p.S183S|DLC1_ENST00000358919.2_Silent_p.S149S|DLC1_ENST00000520226.1_Silent_p.S75S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	586					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCTGGCGCTCGCTGAGGTCCA	0.667																																																	0													35.0	40.0	39.0					8																	12958088		2203	4299	6502	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1758C>T	8.37:g.12958088G>A			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.S586	ENST00000276297.4	37	c.1758	CCDS5989.1	8																																																																																			DLC1	-	NULL		0.667	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12958088	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	0.975	A
DMPK	1760	genome.wustl.edu	37	19	46280784	46280784	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:46280784C>T	ENST00000291270.4	-	8	1072	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	DMPK_ENST00000343373.4_Missense_Mutation_p.R326Q|DMPK_ENST00000447742.2_Missense_Mutation_p.R316Q|DMPK_ENST00000458663.2_Missense_Mutation_p.R316Q|DMPK_ENST00000354227.5_Missense_Mutation_p.R316Q|DMPK_ENST00000600757.1_Missense_Mutation_p.R326Q|DMPK_ENST00000595361.1_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		ACACAGCAACCGCTGAATGAA	0.652																																					Esophageal Squamous(35;307 869 9153 24033 28903)												0													40.0	44.0	42.0					19																	46280784		2203	4300	6503	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.947G>A	19.37:g.46280784C>T	ENSP00000291270:p.Arg316Gln		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.R326Q	ENST00000291270.4	37	c.977	CCDS12674.1	19	.	.	.	.	.	.	.	.	.	.	c	7.279	0.608745	0.14066	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.63	-1.35	0.09114	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.709289	0.12112	N	0.498401	T	0.39835	0.1093	L	0.31420	0.93	0.09310	N	1	B;B;B;B;B;B;B;B	0.26708	0.049;0.011;0.157;0.021;0.021;0.066;0.004;0.004	B;B;B;B;B;B;B;B	0.15870	0.014;0.001;0.002;0.006;0.005;0.003;0.003;0.002	T	0.15752	-1.0426	10	0.20519	T	0.43	.	5.4787	0.16710	0.0:0.5018:0.1407:0.3575	.	316;316;342;316;316;316;363;326	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	Q	316;342;316;316;316;326;326;316	ENSP00000401753:R316Q;ENSP00000291270:R316Q;ENSP00000413417:R316Q;ENSP00000345997:R326Q;ENSP00000346168:R316Q	ENSP00000291270:R316Q	R	-	2	0	DMPK	50972624	0.001000	0.12720	0.411000	0.26484	0.222000	0.24845	1.494000	0.35616	0.001000	0.14605	-0.254000	0.11334	CGG	DMPK	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.652	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DMPK	HGNC	protein_coding	OTTHUMT00000460572.1	C	NM_004409		46280784	-1	no_errors	ENST00000343373	ensembl	human	known	70_37	missense	SNP	0.083	T
DMRT1	1761	genome.wustl.edu	37	9	894052	894052	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:894052A>T	ENST00000382276.3	+	3	828	c.679A>T	c.(679-681)Aac>Tac	p.N227Y	DMRT1_ENST00000569227.1_Missense_Mutation_p.N69Y	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	227					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CAATCTATACAACTGCCCGCA	0.547											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													114.0	100.0	104.0					9																	894052		2203	4300	6503	SO:0001583	missense	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.679A>T	9.37:g.894052A>T	ENSP00000371711:p.Asn227Tyr	591	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.N227Y	ENST00000382276.3	37	c.679	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289479	0.80914	.	.	ENSG00000137090	ENST00000382276	T	0.24538	1.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.88450	2.955	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.984	T	0.67304	-0.5704	10	0.87932	D	0	.	16.3996	0.83635	1.0:0.0:0.0:0.0	.	227;227	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	Y	227	ENSP00000371711:N227Y	ENSP00000371711:N227Y	N	+	1	0	DMRT1	884052	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.655000	0.74392	2.275000	0.75901	0.529000	0.55759	AAC	DMRT1	-	NULL		0.547	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	A	NM_021951		894052	+1	no_errors	ENST00000382276	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11604523	11604523	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:11604523G>A	ENST00000262442.4	+	24	5178	c.5110G>A	c.(5110-5112)Gaa>Aaa	p.E1704K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1704K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1704	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCTATGAAGAAAAGCCGAG	0.512																																																	0													155.0	142.0	146.0					17																	11604523		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5110G>A	17.37:g.11604523G>A	ENSP00000262442:p.Glu1704Lys		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1704K	ENST00000262442.4	37	c.5110	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376183	0.82682	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.26223	1.79;1.75	5.95	5.95	0.96441	.	0.190711	0.44688	N	0.000427	T	0.46112	0.1376	M	0.64567	1.98	0.80722	D	1	P	0.52061	0.95	P	0.55161	0.77	T	0.29397	-1.0013	10	0.72032	D	0.01	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1704	Q9NYC9	DYH9_HUMAN	K	1704;1704;286	ENSP00000262442:E1704K;ENSP00000414874:E1704K	ENSP00000262442:E1704K	E	+	1	0	DNAH9	11545248	1.000000	0.71417	0.999000	0.59377	0.137000	0.21094	9.173000	0.94815	2.824000	0.97209	0.655000	0.94253	GAA	DNAH9	-	NULL		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11604523	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAJB12	54788	genome.wustl.edu	37	10	74103158	74103158	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:74103158C>T	ENST00000444643.2	-	3	755	c.423G>A	c.(421-423)aaG>aaA	p.K141K	DNAJB12_ENST00000394903.2_Silent_p.K175K|DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000338820.3_Silent_p.K175K			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	141	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						GTGCGTGGTTCTTGTCTGGGT	0.547																																																	0													162.0	122.0	136.0					10																	74103158		2203	4300	6503	SO:0001819	synonymous_variant	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.423G>A	10.37:g.74103158C>T			B7Z7I3|Q9H6H0	Silent	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.K175	ENST00000444643.2	37	c.525		10																																																																																			DNAJB12	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.547	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	DNAJB12	HGNC	protein_coding	OTTHUMT00000048581.2	C			74103158	-1	no_errors	ENST00000338820	ensembl	human	known	70_37	silent	SNP	1.000	T
DOT1L	84444	genome.wustl.edu	37	19	2226747	2226747	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:2226747G>T	ENST00000398665.3	+	27	4263	c.4227G>T	c.(4225-4227)aaG>aaT	p.K1409N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1409					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCGGCAAGGCCGCCAAGG	0.721																																																	0													10.0	16.0	14.0					19																	2226747		1994	4125	6119	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4227G>T	19.37:g.2226747G>T	ENSP00000381657:p.Lys1409Asn		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.K1409N	ENST00000398665.3	37	c.4227	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866908	0.72065	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.37411	1.62;1.2	4.53	4.53	0.55603	.	0.123293	0.36482	N	0.002567	T	0.45357	0.1338	L	0.56769	1.78	0.29463	N	0.857647	B;P	0.44429	0.244;0.835	B;P	0.47645	0.051;0.553	T	0.51671	-0.8676	10	0.87932	D	0	-19.4133	16.2544	0.82505	0.0:0.0:1.0:0.0	.	1409;1409	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	N	1409;1409;289	ENSP00000381657:K1409N;ENSP00000407411:K289N	ENSP00000221482:K1409N	K	+	3	2	DOT1L	2177747	1.000000	0.71417	0.018000	0.16275	0.382000	0.30200	4.341000	0.59335	2.075000	0.62263	0.561000	0.74099	AAG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.721	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	G	NM_032482		2226747	+1	no_errors	ENST00000398665	ensembl	human	known	70_37	missense	SNP	0.921	T
DROSHA	29102	genome.wustl.edu	37	5	31504711	31504711	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:31504711G>T	ENST00000511367.2	-	10	1863	c.1619C>A	c.(1618-1620)gCa>gAa	p.A540E	DROSHA_ENST00000344624.3_Missense_Mutation_p.A540E|DROSHA_ENST00000513349.1_Missense_Mutation_p.A503E|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000442743.1_Missense_Mutation_p.A503E	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	540	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCTTGCCTTTGCGCTGCATTT	0.438																																																	0													162.0	151.0	155.0					5																	31504711		1981	4177	6158	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1619C>A	5.37:g.31504711G>T	ENSP00000425979:p.Ala540Glu		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.A540E	ENST00000511367.2	37	c.1619	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034636	0.54896	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.50001	1.38;1.38;0.76;0.76	5.11	5.11	0.69529	.	0.111186	0.64402	D	0.000010	T	0.48429	0.1499	M	0.61703	1.905	0.80722	D	1	B;B;B	0.27117	0.168;0.105;0.155	B;B;B	0.32805	0.153;0.034;0.058	T	0.51036	-0.8756	10	0.66056	D	0.02	-17.4384	12.4197	0.55514	0.0768:0.0:0.9232:0.0	.	472;503;540	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	E	540;540;503;503;465;496	ENSP00000425979:A540E;ENSP00000339845:A540E;ENSP00000409335:A503E;ENSP00000424161:A503E	ENSP00000265075:A465E	A	-	2	0	DROSHA	31540468	1.000000	0.71417	0.973000	0.42090	0.955000	0.61496	6.941000	0.75922	2.802000	0.96397	0.563000	0.77884	GCA	DROSHA	-	NULL		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	G	NM_013235		31504711	-1	no_errors	ENST00000344624	ensembl	human	known	70_37	missense	SNP	0.998	T
DSEL	92126	genome.wustl.edu	37	18	65179061	65179061	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr18:65179061C>T	ENST00000310045.7	-	2	4288	c.2815G>A	c.(2815-2817)Gac>Aac	p.D939N	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	929					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AATTTTGTGTCCTGGACTAAA	0.398																																																	0													69.0	72.0	71.0					18																	65179061		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2815G>A	18.37:g.65179061C>T	ENSP00000310565:p.Asp939Asn		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.D939N	ENST00000310045.7	37	c.2815	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012123	0.35511	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18657	2.2	4.99	4.99	0.66335	Sulfotransferase domain (1);	0.115197	0.64402	U	0.000019	T	0.11707	0.0285	N	0.16098	0.37	0.40286	D	0.978457	B	0.13594	0.008	B	0.20184	0.028	T	0.13282	-1.0515	10	0.10111	T	0.7	-18.2333	11.7781	0.51997	0.0:0.9191:0.0:0.0809	.	929	Q8IZU8	DSEL_HUMAN	N	939;929	ENSP00000310565:D939N	ENSP00000310565:D939N	D	-	1	0	DSEL	63330041	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	4.718000	0.61930	2.321000	0.78463	0.558000	0.71614	GAC	DSEL	-	pfam_Sulfotransferase_dom		0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	C	NM_032160		65179061	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56323951	56323951	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:56323951G>A	ENST00000361203.3	-	98	22245	c.22238C>T	c.(22237-22239)tCc>tTc	p.S7413F	DST_ENST00000370788.2_Missense_Mutation_p.S5327F|DST_ENST00000370769.4_Missense_Mutation_p.S7524F|DST_ENST00000370754.5_Missense_Mutation_p.S7702F|DST_ENST00000446842.2_Missense_Mutation_p.S7198F|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S5123F|DST_ENST00000421834.2_Missense_Mutation_p.S5409F			Q03001	DYST_HUMAN	dystonin	7522					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGCACACGGACTGGATTTC	0.587																																																	0													69.0	72.0	71.0					6																	56323951		2016	4185	6201	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22238C>T	6.37:g.56323951G>A	ENSP00000354508:p.Ser7413Phe		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S7702F	ENST00000361203.3	37	c.23105		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260585|3.260585	0.59431|0.59431	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.72167	.|-0.3;-0.6;-0.63;-0.5;0.31;-0.54;-0.45	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.52532	.|D	.|0.000078	D|D	0.84170|0.84170	0.5413|0.5413	M|M	0.81341|0.81341	2.54|2.54	.|.	.|.	.|.	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.997;1.0;0.999;0.997;0.999;0.998;0.999;0.999	.|D;D;D;D;D;D;D;D	.|0.87578	.|0.916;0.998;0.996;0.916;0.979;0.993;0.998;0.959	D|D	0.84350|0.84350	0.0532|0.0532	4|9	.|0.66056	.|D	.|0.02	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5409;7524;7702;7522;5123;210;210;5327	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	S|F	211|5123;7702;7524;5409;7198;5327;7413	.|ENSP00000244364:S5123F;ENSP00000359790:S7702F;ENSP00000359805:S7524F;ENSP00000400883:S5409F;ENSP00000393645:S7198F;ENSP00000359824:S5327F;ENSP00000354508:S7413F	.|ENSP00000244364:S5123F	P|S	-|-	1|2	0|0	DST|DST	56431910|56431910	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	8.062000|8.062000	0.89475|0.89475	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CCG|TCC	DST	-	NULL		0.587	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56323951	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	A
ECE2	9718	genome.wustl.edu	37	3	183995182	183995182	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:183995182G>A	ENST00000402825.3	+	4	760	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ECE2_ENST00000357474.5_Missense_Mutation_p.D182N|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D136N|ECE2_ENST00000359140.4_Missense_Mutation_p.D107N	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	254	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCCTGCCCGATGGGCGTTC	0.602																																																	0													51.0	52.0	52.0					3																	183995182		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.760G>A	3.37:g.183995182G>A	ENSP00000384223:p.Asp254Asn		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.D254N	ENST00000402825.3	37	c.760	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422726	0.43020	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.97	4.18	0.49190	Peptidase M13 (1);	0.247438	0.45867	N	0.000338	T	0.65123	0.2661	L	0.42632	1.34	0.48571	D	0.999672	B;B;B;B;B;B	0.13145	0.007;0.006;0.0;0.002;0.001;0.006	B;B;B;B;B;B	0.15870	0.004;0.014;0.0;0.002;0.001;0.004	T	0.59830	-0.7380	10	0.46703	T	0.11	-15.2473	9.5488	0.39297	0.231:0.0:0.769:0.0	.	107;182;136;182;107;254	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	N	254;107;136;182;128	ENSP00000384223:D254N;ENSP00000352052:D107N;ENSP00000385846:D136N;ENSP00000350066:D182N;ENSP00000398444:D128N	ENSP00000350066:D182N	D	+	1	0	ECE2	185477876	1.000000	0.71417	0.478000	0.27316	0.453000	0.32348	4.897000	0.63231	0.858000	0.35431	-0.123000	0.14984	GAT	ECE2	-	pfam_Peptidase_M13_N		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	G	NM_014693		183995182	+1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	0.987	A
ECE2	9718	genome.wustl.edu	37	3	184001608	184001608	+	Silent	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:184001608G>C	ENST00000402825.3	+	8	1206	c.1206G>C	c.(1204-1206)ctG>ctC	p.L402L	ECE2_ENST00000357474.5_Silent_p.L330L|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.L284L|ECE2_ENST00000359140.4_Silent_p.L255L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	402	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGAGGAACTGGGGATGCTGC	0.602																																																	0													53.0	49.0	50.0					3																	184001608		2203	4300	6503	SO:0001819	synonymous_variant	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1206G>C	3.37:g.184001608G>C			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.L402	ENST00000402825.3	37	c.1206	CCDS3256.2	3																																																																																			ECE2	-	pfam_Peptidase_M13_N		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	G	NM_014693		184001608	+1	no_errors	ENST00000402825	ensembl	human	known	70_37	silent	SNP	1.000	C
ELANE	1991	genome.wustl.edu	37	19	855661	855661	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:855661G>C	ENST00000590230.1	+	5	605	c.464G>C	c.(463-465)gGc>gCc	p.G155A	ELANE_ENST00000263621.1_Missense_Mutation_p.G155A			P08246	ELNE_HUMAN	elastase, neutrophil expressed	155	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTGGCCATGGGCTGGGGCCTT	0.687																																																	0													66.0	61.0	62.0					19																	855661		2203	4298	6501	SO:0001583	missense	1991				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.464G>C	19.37:g.855661G>C	ENSP00000466090:p.Gly155Ala		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G155A	ENST00000590230.1	37	c.464	CCDS12045.1	19	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651096	0.67472	.	.	ENSG00000197561	ENST00000263621	D	0.99532	-6.1	4.42	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38959	U	0.001512	D	0.99782	0.9909	H	0.98487	4.245	0.43846	D	0.996438	D	0.89917	1.0	D	0.97110	1.0	D	0.96946	0.9691	10	0.87932	D	0	.	12.8831	0.58028	0.0:0.0:1.0:0.0	.	155	P08246	ELNE_HUMAN	A	155	ENSP00000263621:G155A	ENSP00000263621:G155A	G	+	2	0	ELANE	806661	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	4.965000	0.63708	2.189000	0.69895	0.462000	0.41574	GGC	ELANE	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.687	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELANE	HGNC	protein_coding	OTTHUMT00000457890.2	G	NM_001972		855661	+1	no_errors	ENST00000263621	ensembl	human	known	70_37	missense	SNP	1.000	C
DUXAP8	503637	genome.wustl.edu	37	22	16151010	16151010	+	RNA	SNP	T	T	C	rs8137415		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr22:16151010T>C	ENST00000447898.1	-	0	1104																											AGTTGTTCTCTGGAATCAATC	0.393																																																	0																																												0																															22.37:g.16151010T>C				RNA	SNP	-	NULL	ENST00000447898.1	37	NULL		22																																																																																			AP000525.8	-	-		0.393	AP000525.9-002	KNOWN	basic	lincRNA	ENSG00000206195	Clone_based_vega_gene	processed_transcript	OTTHUMT00000276780.1	T			16151010	-1	no_errors	ENST00000413768	ensembl	human	known	70_37	rna	SNP	0.448	C
LOC100128554	100128554	genome.wustl.edu	37	12	126947287	126947287	+	lincRNA	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:126947287C>T	ENST00000397346.3	+	0	1055																											agcagtgcctcctcCCGATTC	0.493																																																	0																																												0																															12.37:g.126947287C>T				RNA	SNP	-	NULL	ENST00000397346.3	37	NULL		12																																																																																			RP5-944M2.3	-	-		0.493	RP5-944M2.3-001	KNOWN	basic	lincRNA	ENSG00000214043	Clone_based_vega_gene	lincRNA	OTTHUMT00000399847.1	C			126947287	+1	no_errors	ENST00000397346	ensembl	human	known	70_37	rna	SNP	0.199	T
TDRD15	100129278	genome.wustl.edu	37	2	21366001	21366001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:21366001G>T	ENST00000405799.1	+	4	5992	c.5662G>T	c.(5662-5664)Gaa>Taa	p.E1888*				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1888							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										ATATCATTCTGAAACAAAACT	0.338																																																	0																																										SO:0001587	stop_gained	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.5662G>T	2.37:g.21366001G>T	ENSP00000384376:p.Glu1888*			Nonsense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.E1888*	ENST00000405799.1	37	c.5662		2	.	.	.	.	.	.	.	.	.	.	G	42	9.640556	0.99227	.	.	ENSG00000218819	ENST00000405799	.	.	.	5.01	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	3.2167	0.06701	0.1517:0.1495:0.5633:0.1354	.	.	.	.	X	1888	.	ENSP00000384376:E1888X	E	+	1	0	AC010872.2	21219506	0.967000	0.33354	0.144000	0.22314	0.126000	0.20510	2.226000	0.42963	0.218000	0.20820	0.650000	0.86243	GAA	AC010872.2	-	superfamily_Staphylococal_nuclease_OB-fold		0.338	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000218819	Clone_based_vega_gene	protein_coding	OTTHUMT00000323948.1	G			21366001	+1	no_errors	ENST00000405799	ensembl	human	novel	70_37	nonsense	SNP	0.002	T
ATP13A2	23400	genome.wustl.edu	37	1	17331326	17331326	+	Intron	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:17331326C>T	ENST00000326735.8	-	5	381				RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000452699.1_Intron			Q9NQ11	AT132_HUMAN	ATPase type 13A2						cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCTGGGGAAGCAGGTGAGGGT	0.667																																																	0													41.0	46.0	44.0					1																	17331326		2203	4300	6503	SO:0001627	intron_variant	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.348-10G>A	1.37:g.17331326C>T			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	RNA	SNP	-	NULL	ENST00000326735.8	37	NULL	CCDS175.1	1																																																																																			RP1-37C10.3	-	-		0.667	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000226526	Clone_based_vega_gene	protein_coding	OTTHUMT00000006617.1	C	NM_022089		17331326	+1	no_errors	ENST00000446261	ensembl	human	known	70_37	rna	SNP	0.000	T
RASGRF2	5924	genome.wustl.edu	37	5	80409295	80409295	+	Intron	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:80409295G>C	ENST00000265080.4	+	15	2154				CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GTTCTTGAATGACATCTGGGA	0.393																																																	0																																										SO:0001627	intron_variant	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2088-62G>C	5.37:g.80409295G>C			B9EG89|Q9UK56	RNA	SNP	-	NULL	ENST00000265080.4	37	NULL	CCDS4052.1	5																																																																																			CTD-2193P3.2	-	-		0.393	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249772	Clone_based_vega_gene	protein_coding	OTTHUMT00000239215.2	G	NM_006909		80409295	-1	no_errors	ENST00000508993	ensembl	human	known	70_37	rna	SNP	0.060	C
RP5-1063M23.1	0	genome.wustl.edu	37	12	3407262	3407262	+	lincRNA	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:3407262A>G	ENST00000505276.2	-	0	408																											GGGGCTGGACACAGAGGAGGG	0.642																																																	0																																												0																															12.37:g.3407262A>G				RNA	SNP	-	NULL	ENST00000505276.2	37	NULL		12																																																																																			RP5-1063M23.1	-	-		0.642	RP5-1063M23.1-001	KNOWN	basic	lincRNA	ENSG00000250770	Clone_based_vega_gene	lincRNA	OTTHUMT00000398632.1	A			3407262	-1	no_errors	ENST00000505276	ensembl	human	known	70_37	rna	SNP	0.048	G
LOC101927708	101927708	genome.wustl.edu	37	11	3602161	3602161	+	RNA	SNP	C	C	T	rs188013291		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:3602161C>T	ENST00000527970.1	-	0	280																											ACTTACTCCTCTGCCGTCGCC	0.741																																																	0																																												0																															11.37:g.3602161C>T				RNA	SNP	-	NULL	ENST00000527970.1	37	NULL		11																																																																																			RP13-726E6.2	-	-		0.741	RP13-726E6.2-002	KNOWN	basic	processed_transcript	ENSG00000255367	Clone_based_vega_gene	processed_transcript	OTTHUMT00000392273.1	C			3602161	-1	no_errors	ENST00000527970	ensembl	human	known	70_37	rna	SNP	0.708	T
ARIH1	25820	genome.wustl.edu	37	15	72766720	72766720	+	5'UTR	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:72766720C>T	ENST00000379887.4	+	0	54				RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1						cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TGTTTTCTCTCGGAGGCCGGA	0.721																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.-261C>T	15.37:g.72766720C>T			B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	RNA	SNP	-	NULL	ENST00000379887.4	37	NULL	CCDS10244.1	15																																																																																			RP11-1007O24.3	-	-		0.721	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261423	Clone_based_vega_gene	protein_coding	OTTHUMT00000257350.1	C	NM_005744		72766720	-1	no_errors	ENST00000565181	ensembl	human	known	70_37	rna	SNP	0.998	T
UBE2I	7329	genome.wustl.edu	37	16	1370110	1370110	+	Intron	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:1370110G>T	ENST00000355803.4	+	5	774				UBE2I_ENST00000403747.2_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000402301.1_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000397515.2_Intron	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I						cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GTGATGTGGGGAAGGACGTGA	0.488																																																	0																																										SO:0001627	intron_variant	0			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.224-65G>T	16.37:g.1370110G>T			D3DU69|P50550|Q15698|Q59GX1|Q86VB3	RNA	SNP	-	NULL	ENST00000355803.4	37	NULL	CCDS10433.1	16																																																																																			LA16c-358B7.3	-	-		0.488	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000261505	Clone_based_vega_gene	protein_coding	OTTHUMT00000250317.2	G	NM_003345		1370110	-1	no_errors	ENST00000567829	ensembl	human	known	70_37	rna	SNP	0.002	T
FAM78B	149297	genome.wustl.edu	37	1	166028138	166028138	+	Silent	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:166028138G>T	ENST00000595430.1	-	1	571	c.330C>A	c.(328-330)ctC>ctA	p.L110L																								GATGGCTGAGGAGGTTGGTTG	0.488																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000595430.1:c.330C>A	1.37:g.166028138G>T				Silent	SNP	NULL	p.L110	ENST00000595430.1	37	c.330		1																																																																																			AL626787.1	-	NULL		0.488	AL626787.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000267884	Clone_based_ensembl_gene	protein_coding		G			166028138	-1	no_errors	ENST00000595430	ensembl	human	known	70_37	silent	SNP	0.005	T
EPHA5	2044	genome.wustl.edu	37	4	66280031	66280031	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:66280031C>T	ENST00000273854.3	-	7	2258	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	EPHA5_ENST00000511294.1_Missense_Mutation_p.R553Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.R389Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.R553Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	553	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCAAATCTTCGACTGAAGAC	0.418										TSP Lung(17;0.13)																																							0													156.0	132.0	140.0					4																	66280031		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1658G>A	4.37:g.66280031C>T	ENSP00000273854:p.Arg553Gln		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R553Q	ENST00000273854.3	37	c.1658	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382816	0.42207	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;D;T;T	0.84370	0.66;-1.84;0.66;0.66	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000155	D	0.82379	0.5024	N	0.04373	-0.215	0.58432	D	0.99999	D;P;D;D	0.89917	1.0;0.536;1.0;0.996	D;B;D;B	0.72075	0.946;0.201;0.976;0.373	T	0.75451	-0.3313	10	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	553;553;553;553	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	553;389;553;553	ENSP00000273854:R553Q;ENSP00000389208:R389Q;ENSP00000346899:R553Q;ENSP00000427638:R553Q	ENSP00000273854:R553Q	R	-	2	0	EPHA5	65962626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.940000	0.56599	2.941000	0.99782	0.655000	0.94253	CGA	EPHA5	-	superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.418	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	C	NM_004439		66280031	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	missense	SNP	1.000	T
EPSTI1	94240	genome.wustl.edu	37	13	43491701	43491701	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr13:43491701C>G	ENST00000398762.3	-	9	749	c.750G>C	c.(748-750)aaG>aaC	p.K250N	EPSTI1_ENST00000313624.7_Missense_Mutation_p.K239N|EPSTI1_ENST00000313640.7_Missense_Mutation_p.K250N|EPSTI1_ENST00000476830.2_5'Flank			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	250										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CATCCTTCATCTTTTGCAATT	0.333																																																	0													310.0	295.0	300.0					13																	43491701		2203	4300	6503	SO:0001583	missense	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.750G>C	13.37:g.43491701C>G	ENSP00000381746:p.Lys250Asn		Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	NULL	p.K250N	ENST00000398762.3	37	c.750	CCDS9387.1	13	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906186	0.33628	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.23552	1.9	4.85	1.41	0.22369	.	0.365794	0.28021	N	0.016915	T	0.33990	0.0882	M	0.62723	1.935	0.29563	N	0.850454	P;D	0.53619	0.933;0.961	P;P	0.53689	0.548;0.732	T	0.19712	-1.0297	10	0.49607	T	0.09	-12.8016	8.2679	0.31827	0.0:0.6602:0.0:0.3398	.	239;250	Q96J88-2;Q96J88-3	.;.	N	250;239;250	ENSP00000318982:K250N	ENSP00000318643:K239N	K	-	3	2	EPSTI1	42389701	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	1.623000	0.37008	0.248000	0.21435	-0.136000	0.14681	AAG	EPSTI1	-	NULL		0.333	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	HGNC	protein_coding	OTTHUMT00000400321.1	C	NM_001002264		43491701	-1	no_errors	ENST00000313640	ensembl	human	known	70_37	missense	SNP	0.962	G
ETF1	2107	genome.wustl.edu	37	5	137846755	137846755	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:137846755G>A	ENST00000360541.5	-	8	1218	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	ETF1_ENST00000499810.2_Missense_Mutation_p.L300F|ETF1_ENST00000503014.1_Missense_Mutation_p.L319F	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	333					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGCAATGAAGAACATATCTC	0.403																																																	0													69.0	69.0	69.0					5																	137846755		2203	4300	6503	SO:0001583	missense	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.997C>T	5.37:g.137846755G>A	ENSP00000353741:p.Leu333Phe		B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1	p.L333F	ENST00000360541.5	37	c.997	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032036	0.54790	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.93	5.93	0.95920	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.76170	2.325	0.80722	D	1	B;B	0.14012	0.008;0.009	B;B	0.20384	0.012;0.029	T	0.63484	-0.6627	9	0.45353	T	0.12	-1.0979	13.1953	0.59734	0.0732:0.0:0.9268:0.0	.	319;333	B7Z7P8;P62495	.;ERF1_HUMAN	F	300;333;319	.	ENSP00000353741:L333F	L	-	1	0	ETF1	137874654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.673000	0.68109	2.798000	0.96311	0.655000	0.94253	CTT	ETF1	-	pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1		0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	HGNC	protein_coding	OTTHUMT00000251276.2	G	NM_004730		137846755	-1	no_errors	ENST00000360541	ensembl	human	known	70_37	missense	SNP	1.000	A
EYA2	2139	genome.wustl.edu	37	20	45618727	45618727	+	Silent	SNP	C	C	T	rs141069620		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:45618727C>T	ENST00000327619.5	+	2	452	c.78C>T	c.(76-78)gaC>gaT	p.D26D	EYA2_ENST00000357410.3_Silent_p.D26D|EYA2_ENST00000317304.6_Silent_p.D26D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	26					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACCGTGCTGACGCTGCTGTGT	0.478																																					Pancreas(120;56 1725 18501 25218 43520)												0								C	,	0,4406		0,0,2203	151.0	133.0	139.0		78,78	-1.4	0.0	20	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EYA2	NM_005244.4,NM_172110.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	26/539,26/460	45618727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.78C>T	20.37:g.45618727C>T			Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.D26	ENST00000327619.5	37	c.78	CCDS13403.1	20																																																																																			EYA2	-	NULL		0.478	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	C	NM_005244		45618727	+1	no_errors	ENST00000327619	ensembl	human	known	70_37	silent	SNP	0.000	T
FAM13B	51306	genome.wustl.edu	37	5	137292184	137292184	+	Intron	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:137292184G>A	ENST00000033079.3	-	14	1893				FAM13B_ENST00000425075.2_Silent_p.L379L|FAM13B_ENST00000420893.2_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TCTCTCTGCAGATGCATTGTT	0.373																																																	0													80.0	70.0	73.0					5																	137292184		1878	4095	5973	SO:0001627	intron_variant	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1442-2119C>T	5.37:g.137292184G>A			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	p.L379	ENST00000033079.3	37	c.1135	CCDS4195.1	5																																																																																			FAM13B	-	NULL		0.373	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	G			137292184	-1	no_errors	ENST00000425075	ensembl	human	known	70_37	silent	SNP	1.000	A
FAM205A	259308	genome.wustl.edu	37	9	34725112	34725112	+	Missense_Mutation	SNP	C	C	G	rs200209883	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:34725112C>G	ENST00000378788.3	-	4	2164	c.2125G>C	c.(2125-2127)Gca>Cca	p.A709P		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	709						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						GGAGCCACTGCCAGGACCCCA	0.552																																																	0													22.0	16.0	18.0					9																	34725112		692	1591	2283	SO:0001583	missense	259308				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.2125G>C	9.37:g.34725112C>G	ENSP00000417711:p.Ala709Pro		A8MVW7	Missense_Mutation	SNP	NULL	p.A709P	ENST00000378788.3	37	c.2125	CCDS55305.1	9	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279445	0.40294	.	.	ENSG00000205108	ENST00000378788	T	0.56941	0.43	4.43	-2.72	0.05968	.	.	.	.	.	T	0.51686	0.1689	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.69142	0.962	T	0.45454	-0.9260	9	0.49607	T	0.09	.	5.4131	0.16358	0.0:0.2766:0.4419:0.2815	.	709	Q6ZU69	F205A_HUMAN	P	709	ENSP00000417711:A709P	ENSP00000417711:A709P	A	-	1	0	RP11-195F19.10	34715112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.932000	0.03963	-0.528000	0.06366	-0.300000	0.09419	GCA	FAM205A	-	NULL		0.552	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	C	NM_001141917		34725112	-1	no_errors	ENST00000378788	ensembl	human	novel	70_37	missense	SNP	0.000	G
FAM65B	9750	genome.wustl.edu	37	6	24861255	24861255	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:24861255T>C	ENST00000259698.4	-	8	749	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	FAM65B_ENST00000510784.2_Missense_Mutation_p.T226A|FAM65B_ENST00000540914.1_Missense_Mutation_p.T192A|FAM65B_ENST00000378023.4_Missense_Mutation_p.T192A|FAM65B_ENST00000538035.1_Missense_Mutation_p.T221A	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	192					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ACTTCAATGGTGCACATATTC	0.463																																																	0													60.0	57.0	58.0					6																	24861255		1986	4160	6146	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.574A>G	6.37:g.24861255T>C	ENSP00000259698:p.Thr192Ala		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T192A	ENST00000259698.4	37	c.574	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814225	0.32053	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	5.26	-0.134	0.13481	.	0.368551	0.32175	N	0.006466	T	0.00608	0.0020	L	0.38531	1.155	0.35120	D	0.766942	B;B;B;B	0.13594	0.004;0.008;0.002;0.003	B;B;B;B	0.18263	0.019;0.006;0.011;0.021	T	0.44922	-0.9296	10	0.08179	T	0.78	-4.671	9.6798	0.40063	0.0:0.2685:0.0:0.7315	.	226;221;192;192	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	A	192;221;192;192;226	ENSP00000259698:T192A;ENSP00000441138:T221A;ENSP00000367262:T192A;ENSP00000438425:T192A;ENSP00000441305:T226A	ENSP00000259698:T192A	T	-	1	0	FAM65B	24969234	0.989000	0.36119	0.987000	0.45799	0.991000	0.79684	0.173000	0.16724	-0.248000	0.09583	0.482000	0.46254	ACC	FAM65B	-	NULL		0.463	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	T			24861255	-1	no_errors	ENST00000259698	ensembl	human	known	70_37	missense	SNP	0.998	C
FANCG	2189	genome.wustl.edu	37	9	35078671	35078671	+	Missense_Mutation	SNP	G	G	C	rs115131067	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:35078671G>C	ENST00000378643.3	-	3	729	c.238C>G	c.(238-240)Ctg>Gtg	p.L80V	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	80					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTTGCCCTCAGGATAATGAAG	0.562			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	0													84.0	79.0	81.0					9																	35078671		2203	4300	6503	SO:0001583	missense	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.238C>G	9.37:g.35078671G>C	ENSP00000367910:p.Leu80Val			Missense_Mutation	SNP	superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat	p.L80V	ENST00000378643.3	37	c.238	CCDS6574.1	9	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497977	0.64186	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	T;T	0.80653	0.39;-1.4	5.29	3.43	0.39272	.	.	.	.	.	T	0.75882	0.3910	M	0.72118	2.19	0.27074	N	0.963249	P	0.42908	0.793	B	0.38225	0.268	T	0.70249	-0.4924	9	0.56958	D	0.05	-9.7549	5.7458	0.18120	0.0894:0.0:0.561:0.3496	.	80	O15287	FANCG_HUMAN	V	80	ENSP00000367910:L80V;ENSP00000409607:L80V	ENSP00000367910:L80V	L	-	1	2	FANCG	35068671	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.490000	0.22403	1.208000	0.43306	0.591000	0.81541	CTG	FANCG	-	superfamily_Sig_transdc_His_kin_Hpt_dom		0.562	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCG	HGNC	protein_coding	OTTHUMT00000052269.1	G	NM_004629		35078671	-1	no_errors	ENST00000378643	ensembl	human	known	70_37	missense	SNP	0.938	C
FBXO30	84085	genome.wustl.edu	37	6	146125682	146125682	+	Silent	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:146125682G>T	ENST00000237281.4	-	2	2026	c.1860C>A	c.(1858-1860)gtC>gtA	p.V620V		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	620							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TATGCTGCAGGACCTCAAAAG	0.453																																																	0													118.0	105.0	109.0					6																	146125682		2203	4300	6503	SO:0001819	synonymous_variant	84085			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1860C>A	6.37:g.146125682G>T			Q9BXZ7	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.V620	ENST00000237281.4	37	c.1860	CCDS5208.1	6																																																																																			FBXO30	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like		0.453	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	HGNC	protein_coding	OTTHUMT00000042570.2	G			146125682	-1	no_errors	ENST00000237281	ensembl	human	known	70_37	silent	SNP	0.880	T
FBXO40	51725	genome.wustl.edu	37	3	121340784	121340784	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:121340784G>A	ENST00000338040.4	+	3	922	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	170					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGAGGAAATGGGAGGAGCAGT	0.493																																																	0													120.0	129.0	126.0					3																	121340784		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.508G>A	3.37:g.121340784G>A	ENSP00000337510:p.Gly170Arg		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.G170R	ENST00000338040.4	37	c.508	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	G	4.299	0.054734	0.08291	.	.	ENSG00000163833	ENST00000338040	T	0.41065	1.01	4.88	4.01	0.46588	.	0.907004	0.09804	N	0.753648	T	0.37517	0.1006	L	0.44542	1.39	0.29491	N	0.855615	B	0.22983	0.078	B	0.26864	0.074	T	0.30297	-0.9983	10	0.24483	T	0.36	0.0253	11.6588	0.51334	0.089:0.0:0.911:0.0	.	170	Q9UH90	FBX40_HUMAN	R	170	ENSP00000337510:G170R	ENSP00000337510:G170R	G	+	1	0	FBXO40	122823474	0.990000	0.36364	0.705000	0.30386	0.142000	0.21351	4.541000	0.60670	1.392000	0.46585	-0.142000	0.14014	GGA	FBXO40	-	NULL		0.493	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	G	NM_016298		121340784	+1	no_errors	ENST00000338040	ensembl	human	known	70_37	missense	SNP	0.710	A
FDFT1	2222	genome.wustl.edu	37	8	11696000	11696000	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:11696000G>A	ENST00000220584.4	+	8	1358	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	FDFT1_ENST00000538689.1_Missense_Mutation_p.R268Q|FDFT1_ENST00000528643.1_Missense_Mutation_p.R294Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.R372Q|FDFT1_ENST00000443614.2_Missense_Mutation_p.R336Q|FDFT1_ENST00000525777.1_Missense_Mutation_p.R294Q|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528812.1_Missense_Mutation_p.R315Q|FDFT1_ENST00000530664.1_Missense_Mutation_p.R315Q	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	379					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CTGATTTCCCGAAGCCACTAC	0.507																																																	0													149.0	117.0	128.0					8																	11696000		2203	4300	6503	SO:0001583	missense	2222			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.1136G>A	8.37:g.11696000G>A	ENSP00000220584:p.Arg379Gln		B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.R379Q	ENST00000220584.4	37	c.1136	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053426	0.75960	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.45276	0.9;1.48;1.48;1.47;0.91;0.91;0.91;0.91	5.46	5.46	0.80206	.	0.127299	0.52532	D	0.000063	T	0.25419	0.0618	N	0.19112	0.55	0.80722	D	1	B;P;P;B;B	0.46277	0.342;0.605;0.875;0.349;0.349	B;B;B;B;B	0.26614	0.016;0.036;0.071;0.023;0.023	T	0.17410	-1.0370	10	0.52906	T	0.07	-19.7638	18.4678	0.90762	0.0:0.0:1.0:0.0	.	212;336;436;372;379	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	Q	268;379;336;372;315;315;294;294	ENSP00000444248:R268Q;ENSP00000220584:R379Q;ENSP00000390367:R336Q;ENSP00000434714:R372Q;ENSP00000431749:R315Q;ENSP00000432331:R315Q;ENSP00000431649:R294Q;ENSP00000436069:R294Q	ENSP00000220584:R379Q	R	+	2	0	FDFT1	11733409	1.000000	0.71417	0.915000	0.36163	0.862000	0.49288	6.591000	0.74090	2.847000	0.97988	0.591000	0.81541	CGA	FDFT1	-	NULL		0.507	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	G			11696000	+1	no_errors	ENST00000220584	ensembl	human	known	70_37	missense	SNP	1.000	A
FERMT1	55612	genome.wustl.edu	37	20	6088188	6088188	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:6088188C>T	ENST00000217289.4	-	6	1628	c.840G>A	c.(838-840)ttG>ttA	p.L280L	FERMT1_ENST00000536936.1_Silent_p.L23L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	280	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTTAGGATTCAAGTCGAAGA	0.358																																																	0													51.0	51.0	51.0					20																	6088188		2203	4300	6503	SO:0001819	synonymous_variant	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.840G>A	20.37:g.6088188C>T			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L280	ENST00000217289.4	37	c.840	CCDS13098.1	20																																																																																			FERMT1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.358	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	C	NM_017671		6088188	-1	no_errors	ENST00000217289	ensembl	human	known	70_37	silent	SNP	1.000	T
FHDC1	85462	genome.wustl.edu	37	4	153864376	153864376	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:153864376C>T	ENST00000511601.1	+	2	355	c.167C>T	c.(166-168)tCc>tTc	p.S56F	FHDC1_ENST00000260008.3_Missense_Mutation_p.S56F			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	56									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGTGTCCTTCCTCCCCTCCT	0.612																																																	0													79.0	55.0	63.0					4																	153864376		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.167C>T	4.37:g.153864376C>T	ENSP00000427567:p.Ser56Phe			Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.S56F	ENST00000511601.1	37	c.167	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	8.275	0.814278	0.16537	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.33216	1.42;1.42	4.57	4.57	0.56435	.	4.607260	0.00357	N	0.000030	T	0.28599	0.0708	N	0.08118	0	0.19775	N	0.999958	P	0.46277	0.875	P	0.44732	0.459	T	0.54384	-0.8302	10	0.72032	D	0.01	.	15.1576	0.72755	0.0:1.0:0.0:0.0	.	56	Q9C0D6	FHDC1_HUMAN	F	56	ENSP00000427567:S56F;ENSP00000260008:S56F	ENSP00000260008:S56F	S	+	2	0	FHDC1	154083826	0.001000	0.12720	0.410000	0.26471	0.061000	0.15899	0.940000	0.28992	2.106000	0.64143	0.462000	0.41574	TCC	FHDC1	-	NULL		0.612	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	C	NM_033393		153864376	+1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	0.475	T
FLII	2314	genome.wustl.edu	37	17	18158564	18158564	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:18158564C>T	ENST00000327031.4	-	4	485	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	FLII_ENST00000379450.4_Missense_Mutation_p.R56Q|FLII_ENST00000578558.1_Missense_Mutation_p.R87Q|FLII_ENST00000545457.2_Missense_Mutation_p.R87Q|FLII_ENST00000579294.1_Missense_Mutation_p.R76Q|FLII_ENST00000584444.1_5'UTR	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	87	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.R87L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACTGTTGGCTCGGGCCACGAT	0.542																																																	1	Substitution - Missense(1)	lung(1)											127.0	135.0	132.0					17																	18158564		2203	4300	6503	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.260G>A	17.37:g.18158564C>T	ENSP00000324573:p.Arg87Gln		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.R87Q	ENST00000327031.4	37	c.260	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.906844	0.97093	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.37235	1.21;1.82;1.8	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	L	0.43554	1.36	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;P;D;D	0.71870	0.9;0.9;0.951;0.975	T	0.55224	-0.8174	10	0.72032	D	0.01	-6.6879	19.2349	0.93855	0.0:1.0:0.0:0.0	.	56;56;87;87	E7EPM0;B4DIL0;F5H407;Q13045	.;.;.;FLII_HUMAN	Q	87;87;56	ENSP00000324573:R87Q;ENSP00000438536:R87Q;ENSP00000368763:R56Q	ENSP00000324573:R87Q	R	-	2	0	FLII	18099289	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.709000	0.84645	2.571000	0.86741	0.561000	0.74099	CGA	FLII	-	NULL		0.542	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	C	NM_002018		18158564	-1	no_errors	ENST00000327031	ensembl	human	known	70_37	missense	SNP	1.000	T
FLT3	2322	genome.wustl.edu	37	13	28608483	28608483	+	Silent	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr13:28608483G>T	ENST00000241453.7	-	13	1740	c.1659C>A	c.(1657-1659)ctC>ctA	p.L553L	FLT3_ENST00000380982.4_Silent_p.L553L|FLT3_ENST00000537084.1_Silent_p.L553L	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	553					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGACAATGAAGAGGAGACAAA	0.383			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													103.0	95.0	97.0					13																	28608483		2203	4300	6503	SO:0001819	synonymous_variant	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1659C>A	13.37:g.28608483G>T			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L553	ENST00000241453.7	37	c.1659	CCDS31953.1	13																																																																																			FLT3	-	NULL		0.383	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	G			28608483	-1	no_errors	ENST00000380982	ensembl	human	known	70_37	silent	SNP	0.610	T
FREM2	341640	genome.wustl.edu	37	13	39263748	39263748	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr13:39263748C>A	ENST00000280481.7	+	1	2483	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	756					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCTGCCAGCCCCACTGGGT	0.527																																																	0													76.0	81.0	79.0					13																	39263748		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2267C>A	13.37:g.39263748C>A	ENSP00000280481:p.Ala756Asp		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.A756D	ENST00000280481.7	37	c.2267	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574893	0.28092	.	.	ENSG00000150893	ENST00000280481	T	0.42131	0.98	5.8	4.09	0.47781	.	0.123452	0.64402	D	0.000018	T	0.37073	0.0990	L	0.55103	1.725	0.39336	D	0.965496	B	0.33135	0.399	B	0.38156	0.266	T	0.11348	-1.0591	10	0.12430	T	0.62	.	9.0006	0.36079	0.0:0.7774:0.0:0.2226	.	756	Q5SZK8	FREM2_HUMAN	D	756	ENSP00000280481:A756D	ENSP00000280481:A756D	A	+	2	0	FREM2	38161748	0.000000	0.05858	0.982000	0.44146	0.938000	0.57974	0.494000	0.22467	0.821000	0.34540	0.655000	0.94253	GCC	FREM2	-	NULL		0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	C	NM_207361		39263748	+1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	0.322	A
GBP5	115362	genome.wustl.edu	37	1	89730576	89730576	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:89730576G>A	ENST00000370459.3	-	7	1069	c.942C>T	c.(940-942)gtC>gtT	p.V314V	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Silent_p.V314V			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	314						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCAAGGCCAGGACTGCATTCT	0.498																																																	0													95.0	83.0	87.0					1																	89730576		2203	4300	6503	SO:0001819	synonymous_variant	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.942C>T	1.37:g.89730576G>A			B2RCE1|Q86TM5	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.V314	ENST00000370459.3	37	c.942	CCDS722.1	1																																																																																			GBP5	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.498	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	G	NM_052942		89730576	-1	no_errors	ENST00000343435	ensembl	human	known	70_37	silent	SNP	0.036	A
GCG	2641	genome.wustl.edu	37	2	163003930	163003930	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:163003930T>G	ENST00000418842.2	-	3	441	c.187A>C	c.(187-189)Agc>Cgc	p.S63R	GCG_ENST00000375497.3_Missense_Mutation_p.S63R	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	63					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AGATACTTGCTGTAGTCACTG	0.493																																																	0													246.0	243.0	244.0					2																	163003930		2026	4194	6220	SO:0001583	missense	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.187A>C	2.37:g.163003930T>G	ENSP00000387662:p.Ser63Arg		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.S63R	ENST00000418842.2	37	c.187	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755213	0.89843	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.41065	1.01;1.01	5.64	4.49	0.54785	Glucagon/GIP/secretin/VIP (4);	0.112902	0.85682	D	0.000000	T	0.64327	0.2588	M	0.91249	3.19	0.58432	D	0.999999	D	0.56287	0.975	P	0.55455	0.776	T	0.72308	-0.4332	10	0.87932	D	0	8.9159	11.6175	0.51098	0.0:0.0688:0.0:0.9312	.	63	P01275	GLUC_HUMAN	R	63	ENSP00000387662:S63R;ENSP00000364647:S63R	ENSP00000364647:S63R	S	-	1	0	GCG	162712176	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.714000	0.84703	1.152000	0.42452	0.528000	0.53228	AGC	GCG	-	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP		0.493	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	T	NM_002054		163003930	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	missense	SNP	1.000	G
GGA2	23062	genome.wustl.edu	37	16	23498096	23498096	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:23498096G>C	ENST00000309859.4	-	7	677	c.595C>G	c.(595-597)Cta>Gta	p.L199V	GGA2_ENST00000567468.1_Missense_Mutation_p.L199V	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	199	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TTGCTCTTTAGAAGCCTTGTC	0.502																																																	0													202.0	193.0	196.0					16																	23498096		2197	4300	6497	SO:0001583	missense	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.595C>G	16.37:g.23498096G>C	ENSP00000311962:p.Leu199Val		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.L199V	ENST00000309859.4	37	c.595	CCDS10611.1	16	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366333	0.61513	.	.	ENSG00000103365	ENST00000309859	T	0.46063	0.88	6.07	4.13	0.48395	GAT (1);	0.000000	0.64402	D	0.000001	T	0.64450	0.2599	M	0.87097	2.86	0.41680	D	0.98928	D	0.76494	0.999	D	0.80764	0.994	T	0.65492	-0.6155	10	0.44086	T	0.13	-19.9421	8.541	0.33393	0.2333:0.0:0.7667:0.0	.	199	Q9UJY4	GGA2_HUMAN	V	199	ENSP00000311962:L199V	ENSP00000311962:L199V	L	-	1	2	GGA2	23405597	0.981000	0.34729	1.000000	0.80357	0.823000	0.46562	1.839000	0.39220	0.913000	0.36797	-0.142000	0.14014	CTA	GGA2	-	pfscan_GAT		0.502	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1	G			23498096	-1	no_errors	ENST00000309859	ensembl	human	known	70_37	missense	SNP	1.000	C
GLI1	2735	genome.wustl.edu	37	12	57864774	57864774	+	Missense_Mutation	SNP	C	C	G	rs192168783		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:57864774C>G	ENST00000228682.2	+	12	2342	c.2251C>G	c.(2251-2253)Ctg>Gtg	p.L751V	GLI1_ENST00000546141.1_Missense_Mutation_p.L710V|GLI1_ENST00000543426.1_Missense_Mutation_p.L623V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	751					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCAGGCTCTCTGCCTCTTGG	0.597																																					Pancreas(157;841 1936 10503 41495 50368)												0													69.0	70.0	69.0					12																	57864774		2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2251C>G	12.37:g.57864774C>G	ENSP00000228682:p.Leu751Val		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L751V	ENST00000228682.2	37	c.2251	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	C	8.517	0.867849	0.17250	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.18338	2.29;2.22;2.31;2.31	4.62	-0.404	0.12396	.	0.000000	0.35040	N	0.003482	T	0.14787	0.0357	N	0.22421	0.69	0.24776	N	0.992841	D	0.58268	0.982	D	0.67548	0.952	T	0.21965	-1.0230	10	0.13108	T	0.6	.	0.4534	0.00505	0.2607:0.3046:0.1272:0.3075	.	751	P08151	GLI1_HUMAN	V	623;751;710;710	ENSP00000437607:L623V;ENSP00000228682:L751V;ENSP00000441006:L710V;ENSP00000434408:L710V	ENSP00000228682:L751V	L	+	1	2	GLI1	56151041	0.000000	0.05858	0.896000	0.35187	0.559000	0.35586	-0.021000	0.12504	-0.192000	0.10432	-2.193000	0.00311	CTG	GLI1	-	NULL		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	C	NM_005269		57864774	+1	no_errors	ENST00000228682	ensembl	human	known	70_37	missense	SNP	0.736	G
GOLGB1	2804	genome.wustl.edu	37	3	121409639	121409639	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:121409639C>G	ENST00000340645.5	-	14	8682	c.8557G>C	c.(8557-8559)Gag>Cag	p.E2853Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2858Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2853					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CGAAATTTCTCCAGCTCATTC	0.463																																																	0													64.0	62.0	63.0					3																	121409639		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8557G>C	3.37:g.121409639C>G	ENSP00000341848:p.Glu2853Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2853Q	ENST00000340645.5	37	c.8557	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	9.542	1.113553	0.20795	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15256	2.44;2.44	5.3	2.41	0.29592	.	0.673922	0.14085	N	0.342415	T	0.11410	0.0278	N	0.19112	0.55	0.19300	N	0.999975	P;B;P	0.42409	0.779;0.038;0.666	P;B;B	0.44359	0.447;0.015;0.259	T	0.17410	-1.0370	10	0.22109	T	0.4	.	5.9098	0.19020	0.0:0.5308:0.3127:0.1566	.	2858;2858;2853	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Q	2853;2858	ENSP00000341848:E2853Q;ENSP00000377275:E2858Q	ENSP00000341848:E2853Q	E	-	1	0	GOLGB1	122892329	0.002000	0.14202	0.857000	0.33713	0.954000	0.61252	0.712000	0.25779	0.759000	0.33084	0.655000	0.94253	GAG	GOLGB1	-	superfamily_STAT_TF_coiled-coil		0.463	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121409639	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.470	G
GPR98	84059	genome.wustl.edu	37	5	89979428	89979428	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:89979428C>T	ENST00000405460.2	+	28	5786	c.5690C>T	c.(5689-5691)tCt>tTt	p.S1897F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1897	Calx-beta 13. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAACTCTGTCTCCAGTGACT	0.378																																																	0													46.0	44.0	45.0					5																	89979428		1916	4118	6034	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5690C>T	5.37:g.89979428C>T	ENSP00000384582:p.Ser1897Phe		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S1897F	ENST00000405460.2	37	c.5690	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562221	0.65538	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27720	1.65	5.56	5.56	0.83823	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64719	-0.6341	10	0.72032	D	0.01	.	19.5148	0.95159	0.0:1.0:0.0:0.0	.	1897	Q8WXG9	GPR98_HUMAN	F	1897	ENSP00000384582:S1897F	ENSP00000296619:S1897F	S	+	2	0	GPR98	90015184	1.000000	0.71417	0.820000	0.32676	0.802000	0.45316	6.201000	0.72124	2.609000	0.88269	0.585000	0.79938	TCT	GPR98	-	smart_Calx_beta		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		89979428	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.994	T
GPR98	84059	genome.wustl.edu	37	5	90052925	90052925	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:90052925G>T	ENST00000405460.2	+	57	11983	c.11887G>T	c.(11887-11889)Ggc>Tgc	p.G3963C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3963	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGACAGTGCTGGCCTGGAAGA	0.453																																																	0													88.0	90.0	89.0					5																	90052925		1873	4109	5982	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11887G>T	5.37:g.90052925G>T	ENSP00000384582:p.Gly3963Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G3963C	ENST00000405460.2	37	c.11887	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195099	0.58017	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.29917	1.55	5.08	3.26	0.37387	Na-Ca exchanger/integrin-beta4 (2);	0.354433	0.36628	N	0.002493	T	0.40522	0.1120	L	0.48362	1.52	0.23906	N	0.996509	D;D	0.57899	0.981;0.97	P;P	0.59546	0.859;0.65	T	0.11155	-1.0599	10	0.56958	D	0.05	.	9.7828	0.40658	0.287:0.0:0.713:0.0	.	3963;3963	E7ETI5;Q8WXG9	.;GPR98_HUMAN	C	3963	ENSP00000384582:G3963C	ENSP00000296619:G3963C	G	+	1	0	GPR98	90088681	0.836000	0.29430	0.681000	0.30009	0.916000	0.54674	2.047000	0.41269	1.271000	0.44313	0.467000	0.42956	GGC	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90052925	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.370	T
GRAMD2	196996	genome.wustl.edu	37	15	72460080	72460080	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:72460080G>C	ENST00000309731.7	-	5	382	c.369C>G	c.(367-369)atC>atG	p.I123M	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	123	GRAM.					integral component of membrane (GO:0016021)		p.I123M(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTACTACCTTGATATCCTTGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											78.0	71.0	73.0					15																	72460080		2199	4297	6496	SO:0001583	missense	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.369C>G	15.37:g.72460080G>C	ENSP00000311657:p.Ile123Met		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.I123M	ENST00000309731.7	37	c.369	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631398	0.67015	.	.	ENSG00000175318	ENST00000309731	D	0.86497	-2.13	5.0	2.0	0.26442	GRAM (2);	0.096428	0.64402	D	0.000001	D	0.88702	0.6508	L	0.49350	1.555	0.38012	D	0.934576	D	0.89917	1.0	D	0.97110	1.0	D	0.86416	0.1751	10	0.87932	D	0	.	4.2599	0.10735	0.0771:0.1384:0.4988:0.2857	.	123	Q8IUY3	GRAM2_HUMAN	M	123	ENSP00000311657:I123M	ENSP00000311657:I123M	I	-	3	3	GRAMD2	70247134	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	2.914000	0.48797	0.259000	0.21709	0.561000	0.74099	ATC	GRAMD2	-	pfam_GRAM,smart_GRAM		0.597	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	G	NM_001012642		72460080	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	missense	SNP	1.000	C
HERPUD1	9709	genome.wustl.edu	37	16	56976054	56976054	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:56976054G>T	ENST00000439977.2	+	7	1113	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	HERPUD1_ENST00000300302.5_Missense_Mutation_p.G305W|RP11-325K4.2_ENST00000570210.1_RNA|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G281W|HERPUD1_ENST00000344114.4_Missense_Mutation_p.G147W	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	306					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GCATCACGTTGGGTGGTTTCC	0.468			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""		E	0													206.0	178.0	187.0					16																	56976054		2198	4300	6498	SO:0001583	missense	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.916G>T	16.37:g.56976054G>T	ENSP00000409555:p.Gly306Trp		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.G306W	ENST00000439977.2	37	c.916	CCDS10771.1	16	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814163	0.90790	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T	0.65364	1.92;-0.15	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.81250	0.4783	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82954	-0.0201	10	0.87932	D	0	-19.0271	18.8707	0.92313	0.0:0.0:1.0:0.0	.	147;281;305;306	Q15011-3;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	W	305;281;306;147	ENSP00000369118:G281W;ENSP00000340931:G147W	ENSP00000300302:G306W	G	+	1	0	HERPUD1	55533555	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.190000	0.65104	2.784000	0.95788	0.655000	0.94253	GGG	HERPUD1	-	NULL		0.468	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERPUD1	HGNC	protein_coding	OTTHUMT00000257056.5	G			56976054	+1	no_errors	ENST00000439977	ensembl	human	known	70_37	missense	SNP	1.000	T
HIST2H2BE	8349	genome.wustl.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622																																																	1	Substitution - Missense(1)	breast(1)											132.0	121.0	125.0					1																	149857978		2203	4297	6500	SO:0001583	missense	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.213C>G	1.37:g.149857978G>C	ENSP00000358151:p.Phe71Leu		A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.F71L	ENST00000369155.2	37	c.213	CCDS936.1	1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452078	0.63290	.	.	ENSG00000184678	ENST00000369155	T	0.63744	-0.06	5.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.86268	2.805	0.30270	N	0.792314	P	0.44044	0.825	P	0.49752	0.621	T	0.59716	-0.7402	10	0.66056	D	0.02	.	8.9737	0.35921	0.2917:0.0:0.7083:0.0	.	71	Q16778	H2B2E_HUMAN	L	71	ENSP00000358151:F71L	ENSP00000358151:F71L	F	-	3	2	HIST2H2BE	148124602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.842000	0.48230	0.389000	0.25086	0.586000	0.80456	TTC	HIST2H2BE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.622	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	G	NM_003528		149857978	-1	no_errors	ENST00000369155	ensembl	human	known	70_37	missense	SNP	1.000	C
IFNA5	3442	genome.wustl.edu	37	9	21304814	21304814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:21304814G>A	ENST00000259555.4	-	1	498	c.442C>T	c.(442-444)Caa>Taa	p.Q148*		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	148					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTGATTCTTTGAAAGTATTTT	0.448																																																	0													206.0	206.0	206.0					9																	21304814		2203	4300	6503	SO:0001587	stop_gained	3442				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.442C>T	9.37:g.21304814G>A	ENSP00000259555:p.Gln148*		Q52LX3	Nonsense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.Q148*	ENST00000259555.4	37	c.442	CCDS6502.1	9	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145830	0.37923	.	.	ENSG00000147873	ENST00000259555	.	.	.	4.16	0.842	0.18927	.	0.439077	0.24698	N	0.036334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.3947	0.07302	0.1001:0.1685:0.5583:0.1731	.	.	.	.	X	148	.	ENSP00000259555:Q148X	Q	-	1	0	IFNA5	21294814	0.013000	0.17824	0.202000	0.23494	0.001000	0.01503	-0.055000	0.11807	0.332000	0.23536	-0.311000	0.09066	CAA	IFNA5	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.448	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA5	HGNC	protein_coding	OTTHUMT00000051893.1	G	NM_002169		21304814	-1	no_errors	ENST00000259555	ensembl	human	known	70_37	nonsense	SNP	0.415	A
IL4R	3566	genome.wustl.edu	37	16	27374370	27374370	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:27374370C>T	ENST00000395762.2	+	11	1956	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V	IL4R_ENST00000380922.3_Missense_Mutation_p.A551V|IL4R_ENST00000170630.2_Missense_Mutation_p.A566V|IL4R_ENST00000543915.2_Missense_Mutation_p.A566V	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	566	Poly-Ala.|Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCAGCTGCAGCCCCCGTCTCG	0.657																																																	0													26.0	32.0	30.0					16																	27374370		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1697C>T	16.37:g.27374370C>T	ENSP00000379111:p.Ala566Val		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A566V	ENST00000395762.2	37	c.1697	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179364	0.57800	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	4.88	-2.71	0.05986	.	9.374490	0.00166	N	0.000001	T	0.10723	0.0262	L	0.44542	1.39	0.09310	N	1	B;B;B	0.30584	0.121;0.121;0.286	B;B;B	0.25884	0.064;0.064;0.064	T	0.41070	-0.9529	10	0.66056	D	0.02	-18.8182	8.3913	0.32531	0.0:0.3267:0.4947:0.1785	.	551;566;566	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	V	566;566;551;566	ENSP00000379111:A566V;ENSP00000441667:A566V;ENSP00000370309:A551V;ENSP00000170630:A566V	ENSP00000170630:A566V	A	+	2	0	IL4R	27281871	0.020000	0.18652	0.003000	0.11579	0.009000	0.06853	0.511000	0.22739	-0.209000	0.10156	0.555000	0.69702	GCC	IL4R	-	NULL		0.657	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	C			27374370	+1	no_errors	ENST00000170630	ensembl	human	known	70_37	missense	SNP	0.001	T
IRAK1BP1	134728	genome.wustl.edu	37	6	79607603	79607603	+	Missense_Mutation	SNP	G	G	A	rs553090725		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:79607603G>A	ENST00000369940.2	+	3	544	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.E60K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	147					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CTTTCTTGTTGAAAAGCTAGA	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		17197	0.0		0.0	False		,,,				2504	0.001																0													119.0	115.0	116.0					6																	79607603		2203	4300	6503	SO:0001583	missense	134728			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.439G>A	6.37:g.79607603G>A	ENSP00000358956:p.Glu147Lys			Missense_Mutation	SNP	pfam_DUF541	p.E147K	ENST00000369940.2	37	c.439	CCDS34488.1	6	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745328	0.89663	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.78049	2.395	0.50171	D	0.999855	D	0.89917	1.0	D	0.87578	0.998	T	0.76520	-0.2929	8	.	.	.	-12.5761	17.9231	0.88973	0.0:0.0:1.0:0.0	.	147	Q5VVH5	IKBP1_HUMAN	K	147	.	.	E	+	1	0	IRAK1BP1	79664322	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.066000	0.76734	2.566000	0.86566	0.655000	0.94253	GAA	IRAK1BP1	-	pfam_DUF541		0.348	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	G	XM_059729		79607603	+1	no_errors	ENST00000369940	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGA2	3673	genome.wustl.edu	37	5	52344281	52344281	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:52344281C>T	ENST00000296585.5	+	5	619	c.476C>T	c.(475-477)tCa>tTa	p.S159L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	159					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)				TTTCAGCTCTCAGCCAGCTTC	0.453																																																	0													146.0	136.0	140.0					5																	52344281		2203	4300	6503	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.476C>T	5.37:g.52344281C>T	ENSP00000296585:p.Ser159Leu		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S159L	ENST00000296585.5	37	c.476	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	C	7.304	0.613686	0.14066	.	.	ENSG00000164171	ENST00000296585	T	0.58358	0.34	5.34	2.93	0.34026	.	0.380247	0.23964	N	0.042830	T	0.19927	0.0479	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19386	-1.0307	10	0.25106	T	0.35	.	7.6113	0.28131	0.0:0.0751:0.1413:0.7836	.	159;159	E7ESP4;P17301	.;ITA2_HUMAN	L	159	ENSP00000296585:S159L	ENSP00000296585:S159L	S	+	2	0	ITGA2	52380038	0.061000	0.20836	0.223000	0.23860	0.726000	0.41606	1.319000	0.33655	0.327000	0.23409	-0.484000	0.04775	TCA	ITGA2	-	NULL		0.453	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	C	NM_002203		52344281	+1	no_errors	ENST00000296585	ensembl	human	known	70_37	missense	SNP	0.004	T
ITGB6	3694	genome.wustl.edu	37	2	160980321	160980321	+	Silent	SNP	C	C	T	rs201818641		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:160980321C>T	ENST00000283249.2	-	12	2199	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	ITGB6_ENST00000409872.1_Silent_p.A654A|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Silent_p.A612A	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	654					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACTGATGGTCGCACCAGCTA	0.483																																																	0													201.0	175.0	184.0					2																	160980321		2203	4300	6503	SO:0001819	synonymous_variant	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1962G>A	2.37:g.160980321C>T			B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.A654	ENST00000283249.2	37	c.1962	CCDS2212.1	2																																																																																			ITGB6	-	pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,pirsf_Integrin_bsu		0.483	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	C	NM_000888		160980321	-1	no_errors	ENST00000283249	ensembl	human	known	70_37	silent	SNP	0.003	T
ITGA4	3676	genome.wustl.edu	37	2	182360128	182360128	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:182360128C>T	ENST00000397033.2	+	13	1800	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	457					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CGGTCTGATTCTGCTGTCTTG	0.343																																																	0													276.0	242.0	253.0					2																	182360128		1876	4122	5998	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1370C>T	2.37:g.182360128C>T	ENSP00000380227:p.Ser457Phe		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S457F	ENST00000397033.2	37	c.1370	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200799	0.58234	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.62232	0.04;0.04	5.93	5.06	0.68205	.	0.053530	0.85682	D	0.000000	T	0.79381	0.4436	M	0.78344	2.41	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82337	-0.0507	10	0.72032	D	0.01	.	15.0942	0.72220	0.0:0.9323:0.0:0.0677	.	457	P13612	ITA4_HUMAN	F	457	ENSP00000380227:S457F;ENSP00000233573:S457F	ENSP00000233573:S457F	S	+	2	0	ITGA4	182068373	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.793000	0.62474	1.527000	0.49086	-0.136000	0.14681	TCT	ITGA4	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.343	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	C			182360128	+1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	T
ITIH3	3699	genome.wustl.edu	37	3	52830650	52830650	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:52830650A>G	ENST00000449956.2	+	3	274	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	ITIH3_ENST00000416872.2_Missense_Mutation_p.T90A	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	90	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGCCTTCATCACCAACTTCAC	0.577																																																	0													62.0	68.0	66.0					3																	52830650		2142	4277	6419	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.268A>G	3.37:g.52830650A>G	ENSP00000415769:p.Thr90Ala		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T90A	ENST00000449956.2	37	c.268	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056731	0.76074	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.23348	1.91;1.91	4.79	4.79	0.61399	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.228496	0.44483	D	0.000444	T	0.48021	0.1477	M	0.87180	2.865	0.32521	N	0.536288	P;P	0.47106	0.835;0.89	P;P	0.54664	0.468;0.758	T	0.64685	-0.6349	10	0.48119	T	0.1	-26.0369	11.9441	0.52918	1.0:0.0:0.0:0.0	.	90;90	E7ET33;Q06033	.;ITIH3_HUMAN	A	90;90;85;90;90	ENSP00000413922:T90A;ENSP00000415769:T90A	ENSP00000273291:T85A	T	+	1	0	ITIH3	52805690	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.399000	0.59703	2.004000	0.58718	0.459000	0.35465	ACC	ITIH3	-	pfam_VIT,smart_VIT		0.577	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	A	NM_002217		52830650	+1	no_errors	ENST00000449956	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNK9	51305	genome.wustl.edu	37	8	140631202	140631202	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:140631202G>A	ENST00000520439.1	-	2	487	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.R142C	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	142					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)	TTCTTAATGCGCTTCAGCAGG	0.582																																																	0													119.0	92.0	101.0					8																	140631202		2203	4300	6503	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.424C>T	8.37:g.140631202G>A	ENSP00000430676:p.Arg142Cys		Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.R142C	ENST00000520439.1	37	c.424	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280454	0.59758	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.31769	1.48;1.48;1.48	5.85	3.86	0.44501	.	0.119612	0.56097	D	0.000030	T	0.49626	0.1568	M	0.62723	1.935	0.54753	D	0.999989	D	0.89917	1.0	D	0.65140	0.932	T	0.51888	-0.8648	10	0.48119	T	0.1	.	14.8181	0.70050	0.0:0.0:0.6481:0.3519	.	142	Q9NPC2	KCNK9_HUMAN	C	142	ENSP00000429847:R142C;ENSP00000302166:R142C;ENSP00000430676:R142C	ENSP00000302166:R142C	R	-	1	0	KCNK9	140700384	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.536000	0.67180	1.449000	0.47699	0.655000	0.94253	CGC	KCNK9	-	pirsf_2pore_dom_K_chnl_TASK/TWIK		0.582	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	G	NM_016601		140631202	-1	no_errors	ENST00000303015	ensembl	human	known	70_37	missense	SNP	1.000	A
KDM5A	5927	genome.wustl.edu	37	12	475192	475192	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:475192G>C	ENST00000399788.2	-	4	807	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	KDM5A_ENST00000382815.4_Missense_Mutation_p.L149V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	149	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTCCTGGCAGATATCCCAAG	0.418			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													266.0	265.0	265.0					12																	475192		1834	4090	5924	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.445C>G	12.37:g.475192G>C	ENSP00000382688:p.Leu149Val		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L149V	ENST00000399788.2	37	c.445	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016628	0.35606	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815;ENST00000535014	T;T;T	0.62941	-0.01;-0.01;0.98	5.52	4.62	0.57501	ARID/BRIGHT DNA-binding domain (5);	0.141330	0.49916	D	0.000130	T	0.40719	0.1128	N	0.08118	0	0.38070	D	0.936353	B;B;B	0.21225	0.001;0.04;0.053	B;B;B	0.25987	0.016;0.065;0.062	T	0.38200	-0.9672	10	0.45353	T	0.12	-6.0075	8.1461	0.31113	0.0713:0.0:0.644:0.2847	.	149;149;149	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	V	108;149;149;108	ENSP00000382688:L149V;ENSP00000372265:L149V;ENSP00000443854:L108V	ENSP00000372265:L149V	L	-	1	2	KDM5A	345453	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.198000	0.51035	1.442000	0.47568	0.655000	0.94253	CTG	KDM5A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.418	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		475192	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	C
CFAP97	57587	genome.wustl.edu	37	4	186111575	186111575	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:186111575G>C	ENST00000458385.2	-	2	895	c.776C>G	c.(775-777)tCa>tGa	p.S259*	KIAA1430_ENST00000514798.1_Nonsense_Mutation_p.S259*|KIAA1430_ENST00000296775.6_Nonsense_Mutation_p.S259*	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		259										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GTCTGGAGTTGATAAGGGACT	0.393																																																	0													113.0	98.0	103.0					4																	186111575		1889	4114	6003	SO:0001587	stop_gained	57587																														ENST00000458385.2:c.776C>G	4.37:g.186111575G>C	ENSP00000409964:p.Ser259*		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Nonsense_Mutation	SNP	NULL	p.S259*	ENST00000458385.2	37	c.776	CCDS47168.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387360	0.82902	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	.	.	.	5.55	4.71	0.59529	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3756	14.7549	0.69557	0.0699:0.0:0.9301:0.0	.	.	.	.	X	259	.	ENSP00000296775:S259X	S	-	2	0	KIAA1430	186348569	1.000000	0.71417	0.826000	0.32828	0.265000	0.26407	7.835000	0.86780	1.483000	0.48342	-0.140000	0.14226	TCA	KIAA1430	-	NULL		0.393	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	G			186111575	-1	no_errors	ENST00000296775	ensembl	human	known	70_37	nonsense	SNP	0.993	C
KIF24	347240	genome.wustl.edu	37	9	34263154	34263154	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:34263154C>G	ENST00000402558.2	-	8	1484	c.1460G>C	c.(1459-1461)cGa>cCa	p.R487P	KIF24_ENST00000379174.3_Missense_Mutation_p.R353P|KIF24_ENST00000379166.2_Missense_Mutation_p.R487P|KIF24_ENST00000345050.2_Missense_Mutation_p.R353P			Q5T7B8	KIF24_HUMAN	kinesin family member 24	487	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATCCAGTGCTCGGATACATTC	0.458																																																	0													190.0	176.0	181.0					9																	34263154		1986	4161	6147	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1460G>C	9.37:g.34263154C>G	ENSP00000384433:p.Arg487Pro		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R487P	ENST00000402558.2	37	c.1460	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867104	0.91511	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.97	5.97	0.96955	Kinesin, motor domain (3);	0.000000	0.31963	N	0.006786	D	0.90848	0.7125	H	0.94264	3.515	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92228	0.5790	10	0.72032	D	0.01	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	487;487	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	P	487;353;487;353;487	ENSP00000384433:R487P;ENSP00000368472:R353P;ENSP00000368464:R487P;ENSP00000340179:R353P	ENSP00000340179:R353P	R	-	2	0	KIF24	34253154	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.563000	0.73964	2.835000	0.97688	0.591000	0.81541	CGA	KIF24	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.458	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	C			34263154	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	missense	SNP	1.000	G
KIR3DX1	90011	genome.wustl.edu	37	19	55046737	55046737	+	3'UTR	SNP	T	T	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:55046737T>A	ENST00000482404.1	+	0	241				KIR3DX1_ENST00000335056.3_Intron			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1							extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AGGGACAGCTTCCCCCTGAGG	0.567																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)												0																																										SO:0001624	3_prime_UTR_variant	90011			BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000482404.1:c.*238T>A	19.37:g.55046737T>A			B7WNL0|Q8N0S4	RNA	SNP	-	NULL	ENST00000482404.1	37	NULL		19																																																																																			KIR3DX1	-	-		0.567	KIR3DX1-001	KNOWN	basic	processed_transcript	KIR3DX1	HGNC	protein_coding	OTTHUMT00000140799.1	T	NR_026716		55046737	+1	no_errors	ENST00000482404	ensembl	human	known	70_37	rna	SNP	0.012	A
KLC2	64837	genome.wustl.edu	37	11	66026210	66026210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:66026210G>T	ENST00000417856.1	+	2	388	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	KLC2_ENST00000394066.2_Nonsense_Mutation_p.E49*|KLC2_ENST00000394067.2_Nonsense_Mutation_p.E49*|KLC2_ENST00000394078.1_Nonsense_Mutation_p.E49*|KLC2_ENST00000421552.1_Nonsense_Mutation_p.E49*|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394065.2_5'Flank|KLC2_ENST00000316924.5_Nonsense_Mutation_p.E49*	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	49					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.E49K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGAGGCCGGCGAAGCCGAGCC	0.667											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	breast(1)											34.0	36.0	36.0					11																	66026210		2200	4295	6495	SO:0001587	stop_gained	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.145G>T	11.37:g.66026210G>T	ENSP00000399403:p.Glu49*	1088	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Nonsense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E49*	ENST00000417856.1	37	c.145	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365265	0.82463	.	.	ENSG00000174996	ENST00000531240;ENST00000417856;ENST00000526758;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394078;ENST00000461611;ENST00000475757;ENST00000394066	.	.	.	3.94	3.94	0.45596	.	0.341087	0.25540	N	0.029966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-19.3771	14.9294	0.70903	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000314837:E49X	E	+	1	0	KLC2	65782786	1.000000	0.71417	0.572000	0.28498	0.371000	0.29859	5.425000	0.66470	2.030000	0.59900	0.561000	0.74099	GAA	KLC2	-	NULL		0.667	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	G	NM_022822		66026210	+1	no_errors	ENST00000316924	ensembl	human	known	70_37	nonsense	SNP	0.611	T
KLHL28	54813	genome.wustl.edu	37	14	45398273	45398273	+	Silent	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr14:45398273G>T	ENST00000396128.4	-	5	1793	c.1674C>A	c.(1672-1674)ggC>ggA	p.G558G	KLHL28_ENST00000355081.2_Silent_p.G572G	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	558										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTATATCATGCCAGCTGAAT	0.438																																																	0													203.0	186.0	192.0					14																	45398273		2203	4300	6503	SO:0001819	synonymous_variant	54813			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1674C>A	14.37:g.45398273G>T			Q0VAL5	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G558	ENST00000396128.4	37	c.1674	CCDS9680.1	14																																																																																			KLHL28	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.438	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	G			45398273	-1	no_errors	ENST00000396128	ensembl	human	known	70_37	silent	SNP	1.000	T
LAMA2	3908	genome.wustl.edu	37	6	129807751	129807751	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:129807751G>T	ENST00000421865.2	+	56	7931	c.7882G>T	c.(7882-7884)Gta>Tta	p.V2628L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2628	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCCGTTCATGTAGAGCGAAC	0.418																																																	0													109.0	90.0	97.0					6																	129807751		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7882G>T	6.37:g.129807751G>T	ENSP00000400365:p.Val2628Leu		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.V2628L	ENST00000421865.2	37	c.7882	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.954282	0.00470	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.80304	-1.36	5.44	2.5	0.30297	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.228535	0.44483	D	0.000454	T	0.33990	0.0882	N	0.05351	-0.065	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.14023	0.01;0.01	T	0.25398	-1.0133	9	.	.	.	.	4.3439	0.11124	0.297:0.3048:0.3982:0.0	.	2629;2628	A6NF00;P24043	.;LAMA2_HUMAN	L	2628;2627;2628;646	ENSP00000400365:V2628L	.	V	+	1	0	LAMA2	129849444	0.943000	0.32029	0.011000	0.14972	0.257000	0.26127	1.757000	0.38400	0.776000	0.33473	0.591000	0.81541	GTA	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129807751	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	0.020	T
LAMTOR4	389541	genome.wustl.edu	37	7	99747167	99747167	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:99747167G>C	ENST00000341942.5	+	2	115	c.49G>C	c.(49-51)Ggc>Cgc	p.G17R	LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000441173.1_Missense_Mutation_p.G17R	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	17					cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											AGACCAGCTCGGCTACCTGGT	0.587																																																	0													141.0	138.0	139.0					7																	99747167		2203	4300	6503	SO:0001583	missense	389541				CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.49G>C	7.37:g.99747167G>C	ENSP00000343118:p.Gly17Arg			Missense_Mutation	SNP	NULL	p.G17R	ENST00000341942.5	37	c.49	CCDS34702.1	7	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203347	0.79127	.	.	ENSG00000188186	ENST00000341942;ENST00000441173	T;T	0.31247	1.5;2.79	5.33	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	.	.	.	0.35217	D	0.77569	D	0.89917	1.0	D	0.97110	1.0	T	0.61048	-0.7141	9	0.87932	D	0	-19.1929	6.9727	0.24658	0.0889:0.0:0.7396:0.1715	.	17	Q0VGL1	CG059_HUMAN	R	17	ENSP00000343118:G17R;ENSP00000387926:G17R	ENSP00000343118:G17R	G	+	1	0	C7orf59	99585103	1.000000	0.71417	0.522000	0.27862	0.967000	0.64934	6.537000	0.73847	0.665000	0.31066	-0.288000	0.09946	GGC	LAMTOR4	-	NULL		0.587	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR4	HGNC	protein_coding	OTTHUMT00000337373.2	G	NM_001008395		99747167	+1	no_errors	ENST00000341942	ensembl	human	known	70_37	missense	SNP	0.801	C
MRC1	4360	genome.wustl.edu	37	10	17949643	17949643	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:17949643A>T	ENST00000331429.2	+	28	4110	c.4007A>T	c.(4006-4008)cAt>cTt	p.H1336L																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAGCTTTACATGCGTCTTCT	0.418																																																	0													160.0	169.0	166.0					10																	17949643		2186	4283	6469	SO:0001583	missense	101060092																														ENST00000331429.2:c.4007A>T	10.37:g.17949643A>T	ENSP00000332124:p.His1336Leu			Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.H1336L	ENST00000331429.2	37	c.4007		10	.	.	.	.	.	.	.	.	.	.	.	2.385	-0.341221	0.05243	.	.	ENSG00000183748	ENST00000331429	T	0.18657	2.2	4.04	-8.09	0.01090	.	1.224690	0.06052	U	0.656734	T	0.08758	0.0217	.	.	.	0.25877	N	0.98364	B	0.02656	0.0	B	0.04013	0.001	T	0.34950	-0.9808	8	0.10902	T	0.67	-27.4014	8.762	0.34680	0.1946:0.5178:0.0:0.2876	.	1336	B9EJA8	.	L	1336	ENSP00000332124:H1336L	ENSP00000332124:H1336L	H	+	2	0	AL928580.1	17989649	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.678000	0.05209	-2.384000	0.00591	0.416000	0.27883	CAT	MRC1L1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.418	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	LOC101060092	Clone_based_vega_gene	protein_coding	OTTHUMT00000047054.1	A			17949643	+1	no_errors	ENST00000331429	ensembl	human	novel	70_37	missense	SNP	0.000	T
RP5-1052I5.2	0	genome.wustl.edu	37	1	87597801	87597801	+	Intron	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:87597801A>G	ENST00000370548.2	+	7	839				RP5-1052I5.1_ENST00000484933.2_lincRNA|HS2ST1_ENST00000356813.4_Intron																							GACTTGTGCCACATGGAGTGT	0.667											OREG0013589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43.0	53.0	50.0					1																	87597801		692	1591	2283	SO:0001627	intron_variant	339524																														ENST00000370548.2:c.767-1496A>G	1.37:g.87597801A>G		1253		RNA	SNP	-	NULL	ENST00000370548.2	37	NULL		1																																																																																			RP5-1052I5.1	-	-		0.667	RP5-1052I5.2-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	LOC339524	Clone_based_vega_gene	protein_coding	OTTHUMT00000457517.1	A			87597801	+1	no_errors	ENST00000467438	ensembl	human	known	70_37	rna	SNP	0.000	G
PTCHD3P1	387647	genome.wustl.edu	37	10	29698432	29698432	+	RNA	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:29698432G>T	ENST00000427063.2	+	0	0				PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000609413.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000608994.1_RNA|PTCHD3P1_ENST00000446807.1_RNA	NR_003930.1				patched domain containing 3 pseudogene 1																		AAGACGCGGGGGAATTCTGGG	0.642																																																	0																																												387647					10p11.23	2014-08-07			ENSG00000274985	ENSG00000224597			44945	pseudogene	pseudogene							Standard	NG_034006		Approved		uc001iuq.2		OTTHUMG00000187781		10.37:g.29698432G>T				RNA	SNP	-	NULL	ENST00000427063.2	37	NULL		10																																																																																			RP11-534G20.3	-	-		0.642	PTCHD3P1-003	KNOWN	basic	antisense	LOC387647	Clone_based_vega_gene	antisense	OTTHUMT00000047385.1	G	NG_034006		29698432	+1	no_errors	ENST00000430295	ensembl	human	known	70_37	rna	SNP	0.008	T
LRP1B	53353	genome.wustl.edu	37	2	141298620	141298620	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:141298620A>G	ENST00000389484.3	-	45	8406	c.7435T>C	c.(7435-7437)Tgc>Cgc	p.C2479R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2479	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTAAAAGGCACAAGTCATGG	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													130.0	120.0	124.0					2																	141298620		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7435T>C	2.37:g.141298620A>G	ENSP00000374135:p.Cys2479Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C2479R	ENST00000389484.3	37	c.7435	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468981	0.84533	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94457	-3.43	6.03	6.03	0.97812	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98093	0.9371	H	0.94808	3.585	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99208	1.0875	10	0.87932	D	0	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	2479	Q9NZR2	LRP1B_HUMAN	R	2479;2417	ENSP00000374135:C2479R	ENSP00000374135:C2479R	C	-	1	0	LRP1B	141015090	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.191000	0.94940	2.308000	0.77769	0.533000	0.62120	TGC	LRP1B	-	smart_EG-like_dom		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	A	NM_018557		141298620	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRC16A	55604	genome.wustl.edu	37	6	25452453	25452454	+	Intron	INS	-	-	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:25452453_25452454insT	ENST00000329474.6	+	8	982				LRRC16A_ENST00000377969.3_Intron	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTCTCAGGCAATTTTTTTTTTT	0.441																																																	0																																										SO:0001627	intron_variant	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.614+1514->T	6.37:g.25452464_25452464dupT			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	RNA	INS	-	NULL	ENST00000329474.6	37	NULL	CCDS54973.1	6																																																																																			LRRC16A	-	-		0.441	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	NM_017640		25452454	+1	no_errors	ENST00000461945	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
LRRC37A3	374819	genome.wustl.edu	37	17	62859084	62859084	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:62859084C>T	ENST00000584306.1	-	10	3636	c.3106G>A	c.(3106-3108)Gag>Aag	p.E1036K	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.E154K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.E13K|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E1036K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.E74K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1036						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CAGACAGCCTCAATGCTGTTT	0.428																																																	0													132.0	147.0	141.0					17																	62859084		1495	2670	4165	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3106G>A	17.37:g.62859084C>T	ENSP00000464535:p.Glu1036Lys		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E1036K	ENST00000584306.1	37	c.3106	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	11.03	1.519271	0.27211	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.64803	0.51;-0.12;-0.01	2.57	2.57	0.30868	.	.	.	.	.	T	0.74989	0.3789	M	0.71036	2.16	0.20196	N	0.999923	D;B	0.89917	1.0;0.139	D;B	0.91635	0.999;0.101	T	0.60835	-0.7184	9	0.87932	D	0	.	8.7083	0.34367	0.0:1.0:0.0:0.0	.	154;1036	B4DG20;O60309	.;L37A3_HUMAN	K	117;74;13;1036	ENSP00000383674:E74K;ENSP00000335617:E13K;ENSP00000325713:E1036K	ENSP00000325713:E1036K	E	-	1	0	LRRC37A3	60289546	0.998000	0.40836	0.947000	0.38551	0.831000	0.47069	3.074000	0.50065	1.435000	0.47434	0.298000	0.19748	GAG	LRRC37A3	-	NULL		0.428	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	C	NM_199340		62859084	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.964	T
LRRIQ4	344657	genome.wustl.edu	37	3	169540456	169540456	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:169540456C>T	ENST00000340806.6	+	1	747	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	249										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCCACTCCATCCCGAAGAGCT	0.582																																																	0													37.0	41.0	40.0					3																	169540456		1999	4157	6156	SO:0001819	synonymous_variant	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.747C>T	3.37:g.169540456C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.I249	ENST00000340806.6	37	c.747	CCDS46951.1	3																																																																																			LRRIQ4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.582	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	C	NM_001080460		169540456	+1	no_errors	ENST00000340806	ensembl	human	known	70_37	silent	SNP	0.339	T
LRTOMT	220074	genome.wustl.edu	37	11	71807777	71807777	+	3'UTR	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:71807777G>A	ENST00000289488.2	+	0	2168				LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000447974.1_Missense_Mutation_p.G149E|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000324866.7_3'UTR|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000541614.1_Missense_Mutation_p.G149E	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing							cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						agagtaccagggtctgtagag	0.443																																																	0													51.0	48.0	49.0					11																	71807777		692	1591	2283	SO:0001624	3_prime_UTR_variant	220074				CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"""leucine rich repeat containing 51"", ""deafness, autosomal recessive 63"""	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.*1211G>A	11.37:g.71807777G>A			B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	NULL	p.G149E	ENST00000289488.2	37	c.446	CCDS8208.1	11	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450106	0.43531	.	.	ENSG00000184154	ENST00000447974;ENST00000541614	.	.	.	3.91	3.0	0.34707	.	.	.	.	.	T	0.31104	0.0786	.	.	.	0.09310	N	0.99999	B	0.09022	0.002	B	0.09377	0.004	T	0.25152	-1.0140	7	0.87932	D	0	.	7.5749	0.27931	0.1155:0.0:0.8845:0.0	.	149	Q96E66-2	.	E	149	.	ENSP00000414271:G149E	G	+	2	0	LRTOMT	71485425	0.015000	0.18098	0.003000	0.11579	0.768000	0.43524	1.318000	0.33643	1.238000	0.43771	-0.346000	0.07831	GGG	LRTOMT	-	NULL		0.443	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	LRTOMT	HGNC	protein_coding	OTTHUMT00000337504.1	G	NM_145309		71807777	+1	no_errors	ENST00000447974	ensembl	human	known	70_37	missense	SNP	0.003	A
LYZL2	119180	genome.wustl.edu	37	10	30918616	30918616	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:30918616T>C	ENST00000375318.2	-	1	75	c.19A>G	c.(19-21)Agc>Ggc	p.S7G		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GACAGGCAGCTCAGGGGAGCG	0.502																																																	0													55.0	50.0	52.0					10																	30918616		2203	4297	6500	SO:0001583	missense	119180			AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.19A>G	10.37:g.30918616T>C	ENSP00000364467:p.Ser7Gly		Q6NZ69	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.S7G	ENST00000375318.2	37	c.19	CCDS7167.2	10	.	.	.	.	.	.	.	.	.	.	T	7.137	0.581136	0.13686	.	.	ENSG00000151033	ENST00000375318	T	0.70282	-0.47	2.33	1.18	0.20946	.	8.623060	0.00166	N	0.000003	T	0.57710	0.2072	.	.	.	0.09310	N	1	B	0.30211	0.273	B	0.30401	0.115	T	0.43877	-0.9364	9	0.33940	T	0.23	-14.3943	4.0187	0.09655	0.0:0.1804:0.0:0.8196	.	7	Q7Z4W2-2	.	G	7	ENSP00000364467:S7G	ENSP00000364467:S7G	S	-	1	0	LYZL2	30958622	0.286000	0.24305	0.013000	0.15412	0.059000	0.15707	0.726000	0.25984	0.317000	0.23160	0.377000	0.23210	AGC	LYZL2	-	NULL		0.502	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL2	HGNC	protein_coding	OTTHUMT00000047434.1	T	NM_183058		30918616	-1	no_errors	ENST00000375318	ensembl	human	known	70_37	missense	SNP	0.018	C
MAP3K7	6885	genome.wustl.edu	37	6	91225676	91225676	+	3'UTR	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:91225676C>T	ENST00000369329.3	-	0	2526				MAP3K7_ENST00000369332.3_3'UTR|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_3'UTR|MAP3K7_ENST00000479630.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCCAAGGATGCTGGCATCAAA	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.*544G>A	6.37:g.91225676C>T			B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	RNA	SNP	-	NULL	ENST00000369329.3	37	NULL	CCDS5028.1	6																																																																																			MAP3K7	-	-		0.388	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	C	NM_145331		91225676	-1	no_errors	ENST00000479630	ensembl	human	known	70_37	rna	SNP	0.811	T
MAPK8	5599	genome.wustl.edu	37	10	49628280	49628280	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:49628280C>T	ENST00000374189.1	+	6	714	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MAPK8_ENST00000374182.3_Missense_Mutation_p.T178M|MAPK8_ENST00000395611.3_Missense_Mutation_p.T178M|MAPK8_ENST00000374174.1_Missense_Mutation_p.T178M|MAPK8_ENST00000360332.3_Missense_Mutation_p.T178M			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACTGCAGGAACGAGTTTTATG	0.428																																																	0													153.0	142.0	146.0					10																	49628280		2203	4300	6503	SO:0001583	missense	5599			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.533C>T	10.37:g.49628280C>T	ENSP00000363304:p.Thr178Met		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.T178M	ENST00000374189.1	37	c.533	CCDS7224.1	10	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689650	0.88735	.	.	ENSG00000107643	ENST00000429041;ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	T;D;D;D;D;D;D;D	0.83335	-0.73;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87289	0.6140	L	0.35723	1.085	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.974;0.979;0.979;0.974	D;P;P;P;P	0.65233	0.933;0.656;0.767;0.767;0.656	D	0.88077	0.2804	10	0.72032	D	0.01	.	19.7014	0.96054	0.0:1.0:0.0:0.0	.	178;178;178;178;178	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	M	95;178;178;178;178;178;178;178	ENSP00000393223:T95M;ENSP00000363304:T178M;ENSP00000363297:T178M;ENSP00000363294:T178M;ENSP00000353483:T178M;ENSP00000363291:T178M;ENSP00000363289:T178M;ENSP00000378974:T178M	ENSP00000353483:T178M	T	+	2	0	MAPK8	49298286	1.000000	0.71417	0.979000	0.43373	0.984000	0.73092	5.880000	0.69698	2.729000	0.93468	0.655000	0.94253	ACG	MAPK8	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK		0.428	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	C			49628280	+1	no_errors	ENST00000360332	ensembl	human	known	70_37	missense	SNP	0.999	T
MDS2	259283	genome.wustl.edu	37	1	23908066	23908066	+	3'UTR	SNP	T	T	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:23908066T>G	ENST00000477916.1	+	0	82							Q8NDY4	MDS2_HUMAN	myelodysplastic syndrome 2 translocation associated							extracellular space (GO:0005615)				breast(1)|ovary(2)	3						TCCCCAGGGCTCCCACACCTT	0.572			T	ETV6	MDS																																			Dom	yes		1	1p36	259283	myelodysplastic syndrome 2		L	0													20.0	19.0	19.0					1																	23908066		876	1991	2867	SO:0001624	3_prime_UTR_variant	259283			AJ310434		1p36	2008-02-05			ENSG00000197880	ENSG00000197880			29633	protein-coding gene	gene with protein product		607305				12203785	Standard	NR_027042		Approved		uc001bhi.3	Q8NDY4	OTTHUMG00000002927	ENST00000477916.1:c.*79T>G	1.37:g.23908066T>G				RNA	SNP	-	NULL	ENST00000477916.1	37	NULL		1																																																																																			MDS2	-	-		0.572	MDS2-002	KNOWN	basic	processed_transcript	MDS2	HGNC	protein_coding	OTTHUMT00000008173.1	T	NM_148895		23908066	+1	no_errors	ENST00000477916	ensembl	human	known	70_37	rna	SNP	0.048	G
MIEN1	84299	genome.wustl.edu	37	17	37885784	37885784	+	Silent	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:37885784G>T	ENST00000394231.3	-	4	630	c.339C>A	c.(337-339)gtC>gtA	p.V113V	ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000577810.1_3'UTR|MIEN1_ENST00000474210.1_5'UTR|MIR4728_ENST00000580969.1_RNA			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	113					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										GTCACAGGATGACGCAGGGAG	0.557																																																	0													212.0	198.0	203.0					17																	37885784		2203	4300	6503	SO:0001819	synonymous_variant	84299			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.339C>A	17.37:g.37885784G>T				Silent	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.V113	ENST00000394231.3	37	c.339	CCDS11344.1	17																																																																																			MIEN1	-	NULL		0.557	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEN1	HGNC	protein_coding	OTTHUMT00000257020.3	G	NM_032339		37885784	-1	no_errors	ENST00000394231	ensembl	human	known	70_37	silent	SNP	0.999	T
MOCS1	4337	genome.wustl.edu	37	6	39881113	39881113	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:39881113C>G	ENST00000340692.5	-	6	708	c.705G>C	c.(703-705)ttG>ttC	p.L235F	MOCS1_ENST00000373188.2_Missense_Mutation_p.L235F|MOCS1_ENST00000373175.4_Missense_Mutation_p.L206F|MOCS1_ENST00000373195.3_Missense_Mutation_p.L148F|MOCS1_ENST00000432280.2_Missense_Mutation_p.L206F|MOCS1_ENST00000373186.4_Missense_Mutation_p.L235F|MOCS1_ENST00000425303.2_Missense_Mutation_p.L235F|MOCS1_ENST00000308559.7_Missense_Mutation_p.L235F			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	235	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCCCTCAGTCAAGGCCGCAA	0.592																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													110.0	96.0	100.0					6																	39881113		2203	4300	6503	SO:0001583	missense	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.705G>C	6.37:g.39881113C>G	ENSP00000344794:p.Leu235Phe		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.L235F	ENST00000340692.5	37	c.705		6	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757183	0.15846	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.68	0.339	0.15979	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.077696	0.49916	D	0.000128	T	0.12689	0.0308	N	0.15975	0.35	0.42401	D	0.992563	B;B;B;B;B	0.24576	0.106;0.018;0.051;0.041;0.01	B;B;B;B;B	0.33254	0.16;0.046;0.12;0.106;0.045	T	0.06006	-1.0851	9	.	.	.	-4.5904	1.788	0.03046	0.2043:0.4079:0.2132:0.1745	.	235;235;235;235;235	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	F	235;235;206;235;148;235;235;206	ENSP00000362282:L235F;ENSP00000309843:L235F;ENSP00000362270:L206F;ENSP00000362284:L235F;ENSP00000362291:L148F;ENSP00000344794:L235F;ENSP00000416478:L235F;ENSP00000410809:L206F	.	L	-	3	2	MOCS1	39989091	1.000000	0.71417	0.882000	0.34594	0.207000	0.24258	1.818000	0.39012	0.087000	0.17167	-0.961000	0.02630	TTG	MOCS1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA		0.592	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	C	NM_005943		39881113	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	missense	SNP	0.994	G
MPDZ	8777	genome.wustl.edu	37	9	13192225	13192225	+	Missense_Mutation	SNP	C	C	T	rs534459463		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:13192225C>T	ENST00000319217.7	-	15	2120	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	MPDZ_ENST00000536827.1_Missense_Mutation_p.E625K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E625K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E625K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E625K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E625K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E625K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	625	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATTGTCACTTCTATAGGCAGT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		16458	0.0		0.0	False		,,,				2504	0.001																0													118.0	110.0	112.0					9																	13192225		1909	4133	6042	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1873G>A	9.37:g.13192225C>T	ENSP00000320006:p.Glu625Lys		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E625K	ENST00000319217.7	37	c.1873		9	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644021	0.14451	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.77	2.33	0.28932	.	0.295993	0.24160	N	0.040984	T	0.11452	0.0279	L	0.35414	1.06	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.19745	-1.0296	10	0.05620	T	0.96	.	0.4487	0.00497	0.201:0.3396:0.1958:0.2636	.	625;625;625	B7ZMI4;O75970-3;O75970-2	.;.;.	K	625	ENSP00000320006:E625K;ENSP00000439807:E625K;ENSP00000370410:E625K;ENSP00000444151:E625K;ENSP00000415208:E625K;ENSP00000370403:E625K;ENSP00000446358:E625K	ENSP00000320006:E625K	E	-	1	0	MPDZ	13182225	0.993000	0.37304	1.000000	0.80357	0.948000	0.59901	1.033000	0.30191	1.446000	0.47643	-0.137000	0.14449	GAA	MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13192225	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	1.000	T
MUC4	4585	genome.wustl.edu	37	3	195506314	195506314	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:195506314G>C	ENST00000463781.3	-	2	12596	c.12137C>G	c.(12136-12138)aCc>aGc	p.T4046S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4046S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAGGGGTGGTGTCACCTGT	0.592																																																	0													33.0	17.0	22.0					3																	195506314		598	1267	1865	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12137C>G	3.37:g.195506314G>C	ENSP00000417498:p.Thr4046Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T4046S	ENST00000463781.3	37	c.12137	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	5.109	0.205790	0.09704	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32272	1.46;1.59	0.613	0.613	0.17597	.	0.326178	0.13539	U	0.380396	T	0.12390	0.0301	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.14587	-1.0467	9	.	.	.	.	4.4949	0.11831	0.0:0.4229:0.577:1.0E-4	.	3918	E7ESK3	.	S	4046	ENSP00000417498:T4046S;ENSP00000420243:T4046S	.	T	-	2	0	MUC4	196991093	0.000000	0.05858	0.008000	0.14137	0.094000	0.18550	-1.107000	0.03316	0.625000	0.30304	0.064000	0.15345	ACC	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195506314	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	C
MYH2	4620	genome.wustl.edu	37	17	10426696	10426696	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:10426696G>C	ENST00000245503.5	-	38	5890	c.5506C>G	c.(5506-5508)Caa>Gaa	p.Q1836E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1836E|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1836					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTACGCTTTTGCTCACTCTCA	0.473																																																	0													179.0	159.0	166.0					17																	10426696		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5506C>G	17.37:g.10426696G>C	ENSP00000245503:p.Gln1836Glu		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1836E	ENST00000245503.5	37	c.5506	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669256	0.88348	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.73258	-0.73;-0.73	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.37304	U	0.002155	D	0.86640	0.5981	H	0.95365	3.66	0.58432	D	0.999998	P	0.40578	0.722	P	0.50570	0.644	D	0.89084	0.3478	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	1836	Q9UKX2	MYH2_HUMAN	E	1836	ENSP00000245503:Q1836E;ENSP00000380367:Q1836E	ENSP00000245503:Q1836E	Q	-	1	0	MYH2	10367421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	CAA	MYH2	-	pfam_Myosin_tail		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10426696	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO10	4651	genome.wustl.edu	37	5	16703225	16703225	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:16703225C>T	ENST00000513610.1	-	23	2773	c.2319G>A	c.(2317-2319)caG>caA	p.Q773Q	MYO10_ENST00000427430.2_Silent_p.Q130Q|MYO10_ENST00000505695.1_Silent_p.Q112Q|MYO10_ENST00000274203.9_Silent_p.Q130Q|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000515803.1_Silent_p.Q112Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	773	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTAATTCTTCTGTATTATCA	0.398																																																	0													42.0	36.0	38.0					5																	16703225		1840	4086	5926	SO:0001819	synonymous_variant	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2319G>A	5.37:g.16703225C>T			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.Q773	ENST00000513610.1	37	c.2319	CCDS54834.1	5																																																																																			MYO10	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS		0.398	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16703225	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	silent	SNP	1.000	T
MYO15A	51168	genome.wustl.edu	37	17	18052198	18052198	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:18052198C>T	ENST00000205890.5	+	33	7226	c.6888C>T	c.(6886-6888)ttC>ttT	p.F2296F	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2296	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAGGGACTTCCCTCGACAGA	0.612																																																	0													23.0	26.0	25.0					17																	18052198		2028	4190	6218	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6888C>T	17.37:g.18052198C>T			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.F2296	ENST00000205890.5	37	c.6888	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18052198	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	1.000	T
MYO1F	4542	genome.wustl.edu	37	19	8587697	8587697	+	Silent	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:8587697C>A	ENST00000338257.8	-	26	3138	c.2871G>T	c.(2869-2871)ggG>ggT	p.G957G		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	957					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGGGGGGCACCCCATTGCGAT	0.627																																																	0													6.0	8.0	8.0					19																	8587697		1867	4021	5888	SO:0001819	synonymous_variant	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2871G>T	19.37:g.8587697C>A			Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.G957	ENST00000338257.8	37	c.2871	CCDS42494.1	19																																																																																			MYO1F	-	NULL		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	C			8587697	-1	no_errors	ENST00000338257	ensembl	human	known	70_37	silent	SNP	1.000	A
MYO3A	53904	genome.wustl.edu	37	10	26500868	26500868	+	Silent	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:26500868C>A	ENST00000265944.5	+	35	4993	c.4827C>A	c.(4825-4827)cgC>cgA	p.R1609R	MYO3A_ENST00000543632.1_Missense_Mutation_p.P625T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1609					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCTCCCAGCGCCGGCGCCTCG	0.687																																																	0													36.0	43.0	40.0					10																	26500868		2203	4300	6503	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4827C>A	10.37:g.26500868C>A			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.P625T	ENST00000265944.5	37	c.1873	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	6.361	0.434678	0.12045	.	.	ENSG00000095777	ENST00000543632	T	0.75050	-0.9	4.76	-1.12	0.09808	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.23827	N	0.996731	B	0.02656	0.0	B	0.01281	0.0	T	0.52215	-0.8605	8	0.87932	D	0	.	4.8062	0.13321	0.2331:0.3091:0.3863:0.0715	.	625	F5H0U9	.	T	625	ENSP00000445909:P625T	ENSP00000445909:P625T	P	+	1	0	MYO3A	26540874	0.986000	0.35501	0.939000	0.37840	0.147000	0.21601	0.178000	0.16820	-0.056000	0.13221	0.455000	0.32223	CCG	MYO3A	-	smart_Myosin_head_motor_dom		0.687	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	C	NM_017433		26500868	+1	no_errors	ENST00000543632	ensembl	human	known	70_37	missense	SNP	0.862	A
NBPF10	100132406	genome.wustl.edu	37	1	145311874	145311874	+	Missense_Mutation	SNP	G	G	C	rs587712953	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:145311874G>C	ENST00000369338.1	+	10	1313	c.1123G>C	c.(1123-1125)Gaa>Caa	p.E375Q	RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	648						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGTTGTCTTGAACTGACTGA	0.478													.|||	2	0.000399361	0.0	0.0	5008	,	,		26921	0.002		0.0	False		,,,				2504	0.0																0													9.0	12.0	11.0					1																	145311874		681	1578	2259	SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.1123G>C	1.37:g.145311874G>C	ENSP00000358344:p.Glu375Gln		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.E375Q	ENST00000369338.1	37	c.1123		1	.	.	.	.	.	.	.	.	.	.	.	2.977	-0.211073	0.06140	.	.	ENSG00000163386	ENST00000369338;ENST00000369364	T	0.08634	3.07	0.711	-0.634	0.11516	.	.	.	.	.	T	0.02807	0.0084	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43491	-0.9388	6	0.52906	T	0.07	.	4.392	0.11344	0.0:0.4275:0.5725:0.0	.	.	.	.	Q	375;52	ENSP00000358344:E375Q	ENSP00000358344:E375Q	E	+	1	0	NBPF10	144023231	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	0.230000	0.17852	-0.170000	0.10816	0.064000	0.15345	GAA	NBPF10	-	pfam_NBPF_dom		0.478	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038552.1	G	NM_001039703		145311874	+1	no_errors	ENST00000369338	ensembl	human	known	70_37	missense	SNP	0.002	C
NCF1	653361	genome.wustl.edu	37	7	74203029	74203029	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:74203029G>A	ENST00000289473.4	+	10	1102	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	344	Arg/Lys-rich (highly basic).				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CGGGACCGCAGAGCCCCGGGA	0.726																																																	0													2.0	2.0	2.0					7																	74203029		1179	2383	3562	SO:0001819	synonymous_variant	653361			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.1032G>A	7.37:g.74203029G>A			A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_P47PHOX,pfscan_Phox,pfscan_SH3_domain	p.Q344	ENST00000289473.4	37	c.1032	CCDS34657.1	7																																																																																			NCF1	-	pfam_NADPH_oxidase_p47Phox_C		0.726	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF1	HGNC	protein_coding	OTTHUMT00000314560.1	G	NM_000265		74203029	+1	no_errors	ENST00000289473	ensembl	human	known	70_37	silent	SNP	0.010	A
NEFM	4741	genome.wustl.edu	37	8	24774881	24774881	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:24774881G>C	ENST00000221166.5	+	3	2295	c.1513G>C	c.(1513-1515)Gaa>Caa	p.E505Q	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E505Q|NEFM_ENST00000518131.1_Missense_Mutation_p.E505Q|NEFM_ENST00000433454.2_Missense_Mutation_p.E129Q			P07197	NFM_HUMAN	neurofilament, medium polypeptide	505	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tgaagaagaagaagTAGCTGC	0.478																																																	0													39.0	43.0	41.0					8																	24774881		2203	4299	6502	SO:0001583	missense	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1513G>C	8.37:g.24774881G>C	ENSP00000221166:p.Glu505Gln		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.E505Q	ENST00000221166.5	37	c.1513	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.433011	0.01108	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94793	-1.88;-1.76;-1.79;-3.52	4.16	1.87	0.25490	.	0.914021	0.08828	U	0.887769	D	0.85252	0.5654	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.06405	0.001;0.002	T	0.74225	-0.3734	10	0.23891	T	0.37	.	6.3689	0.21471	0.4369:0.0:0.5631:0.0	.	505;505	E7EMV2;P07197	.;NFM_HUMAN	Q	505;505;505;129	ENSP00000221166:E505Q;ENSP00000427872:E505Q;ENSP00000410137:E505Q;ENSP00000412295:E129Q	ENSP00000221166:E505Q	E	+	1	0	NEFM	24830786	0.656000	0.27385	0.732000	0.30844	0.321000	0.28281	1.312000	0.33574	0.868000	0.35678	0.467000	0.42956	GAA	NEFM	-	NULL		0.478	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	G	NM_005382		24774881	+1	no_errors	ENST00000221166	ensembl	human	known	70_37	missense	SNP	0.130	C
NFKB2	4791	genome.wustl.edu	37	10	104154243	104154243	+	5'Flank	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:104154243C>T	ENST00000369966.3	+	0	0				NFKB2_ENST00000189444.6_5'Flank|NFKB2_ENST00000428099.1_5'UTR	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)						extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	TTCCCCCCTCCGGGGGGCCGA	0.667			T	IGH@	B-NHL						OREG0020478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0																																										SO:0001631	upstream_gene_variant	4791			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962		10.37:g.104154243C>T	Exception_encountered	1379	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	RNA	SNP	-	NULL	ENST00000369966.3	37	NULL	CCDS41564.1	10																																																																																			NFKB2	-	-		0.667	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	C			104154243	+1	no_errors	ENST00000593908	ensembl	human	known	70_37	rna	SNP	0.963	T
NLRC4	58484	genome.wustl.edu	37	2	32475118	32475118	+	Silent	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:32475118A>G	ENST00000404025.2	-	5	2303	c.1815T>C	c.(1813-1815)tgT>tgC	p.C605C	NLRC4_ENST00000360906.5_Silent_p.C605C|NLRC4_ENST00000402280.1_Silent_p.C605C|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	605					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGGCACTTGCACAATTGGGCA	0.428																																																	0													119.0	127.0	124.0					2																	32475118		2203	4300	6503	SO:0001819	synonymous_variant	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1815T>C	2.37:g.32475118A>G			A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.C605	ENST00000404025.2	37	c.1815	CCDS33174.1	2																																																																																			NLRC4	-	NULL		0.428	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	A	NM_021209		32475118	-1	no_errors	ENST00000360906	ensembl	human	known	70_37	silent	SNP	0.990	G
NLRP10	338322	genome.wustl.edu	37	11	7982843	7982843	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:7982843C>T	ENST00000328600.2	-	2	477	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	106					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCAGCGCACATGCTCTCGG	0.502																																																	0													68.0	68.0	68.0					11																	7982843		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.316G>A	11.37:g.7982843C>T	ENSP00000327763:p.Val106Met		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V106M	ENST00000328600.2	37	c.316	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455893	0.43634	.	.	ENSG00000182261	ENST00000328600	T	0.81078	-1.45	4.85	1.93	0.25924	.	0.000000	0.36893	N	0.002342	T	0.68201	0.2975	L	0.29908	0.895	0.09310	N	0.999994	P	0.35383	0.498	B	0.42319	0.383	T	0.54794	-0.8240	10	0.25751	T	0.34	.	3.6757	0.08291	0.1973:0.6021:0.0:0.2006	.	106	Q86W26	NAL10_HUMAN	M	106	ENSP00000327763:V106M	ENSP00000327763:V106M	V	-	1	0	NLRP10	7939419	0.027000	0.19231	0.811000	0.32455	0.300000	0.27592	0.393000	0.20817	0.714000	0.32081	-0.136000	0.14681	GTG	NLRP10	-	NULL		0.502	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	C	NM_176821		7982843	-1	no_errors	ENST00000328600	ensembl	human	known	70_37	missense	SNP	0.387	T
NOTCH2	4853	genome.wustl.edu	37	1	120458453	120458453	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:120458453G>A	ENST00000256646.2	-	34	7111	c.6892C>T	c.(6892-6894)Cgg>Tgg	p.R2298W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2298					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGGGCTCCCGAGGGGTGGTT	0.612			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													59.0	63.0	62.0					1																	120458453		2203	4299	6502	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6892C>T	1.37:g.120458453G>A	ENSP00000256646:p.Arg2298Trp		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R2298W	ENST00000256646.2	37	c.6892	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192482	0.58017	.	.	ENSG00000134250	ENST00000256646	D	0.83506	-1.73	5.5	5.5	0.81552	.	0.238762	0.21720	U	0.070137	T	0.76248	0.3961	L	0.36672	1.1	0.58432	D	0.999992	D	0.71674	0.998	P	0.49387	0.609	T	0.80339	-0.1424	10	0.72032	D	0.01	.	13.9444	0.64075	0.0:0.0:0.8384:0.1616	.	2298	Q04721	NOTC2_HUMAN	W	2298	ENSP00000256646:R2298W	ENSP00000256646:R2298W	R	-	1	2	NOTCH2	120259976	0.272000	0.24172	0.986000	0.45419	0.946000	0.59487	1.200000	0.32247	2.588000	0.87417	0.561000	0.74099	CGG	NOTCH2	-	pirsf_Notch,prints_Notch_2		0.612	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	G	NM_024408		120458453	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.981	A
NRSN1	140767	genome.wustl.edu	37	6	24145979	24145979	+	Silent	SNP	A	A	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:24145979A>T	ENST00000378491.4	+	4	694	c.393A>T	c.(391-393)gcA>gcT	p.A131A		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CGTCCATGGCAGGGTGCCTGC	0.488																																																	0													89.0	79.0	83.0					6																	24145979		2203	4300	6503	SO:0001819	synonymous_variant	140767			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.393A>T	6.37:g.24145979A>T				Silent	SNP	NULL	p.A131	ENST00000378491.4	37	c.393	CCDS4549.1	6																																																																																			NRSN1	-	NULL		0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN1	HGNC	protein_coding	OTTHUMT00000043866.1	A	NM_080723		24145979	+1	no_errors	ENST00000378491	ensembl	human	known	70_37	silent	SNP	0.037	T
NT5E	4907	genome.wustl.edu	37	6	86176858	86176858	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:86176858G>A	ENST00000257770.3	+	2	469	c.420G>A	c.(418-420)ctG>ctA	p.L140L	NT5E_ENST00000369651.3_Silent_p.L140L|NT5E_ENST00000369646.3_Silent_p.L140L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	140					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTCCAATTCTGAGTGCAAACA	0.408																																					Melanoma(140;797 1765 2035 2752 18208)												0													119.0	111.0	114.0					6																	86176858		2203	4300	6503	SO:0001819	synonymous_variant	4907			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.420G>A	6.37:g.86176858G>A			B3KQI8|O75520|Q5W116	Silent	SNP	pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase	p.L140	ENST00000257770.3	37	c.420	CCDS5002.1	6																																																																																			NT5E	-	pfam_Metallo_PEstase_dom		0.408	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5E	HGNC	protein_coding	OTTHUMT00000041388.1	G			86176858	+1	no_errors	ENST00000257770	ensembl	human	known	70_37	silent	SNP	1.000	A
OR2T27	403239	genome.wustl.edu	37	1	248813752	248813752	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:248813752A>T	ENST00000344889.3	-	1	433	c.434T>A	c.(433-435)gTg>gAg	p.V145E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTGCCGCCACAATCAACCA	0.552																																																	0													56.0	42.0	47.0					1																	248813752		2196	4246	6442	SO:0001583	missense	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.434T>A	1.37:g.248813752A>T	ENSP00000342008:p.Val145Glu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V145E	ENST00000344889.3	37	c.434	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	9.930	1.214590	0.22289	.	.	ENSG00000187701	ENST00000344889	T	0.41065	1.01	3.3	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35838	N	0.002957	T	0.65984	0.2744	H	0.96489	3.83	0.09310	N	1	D	0.52996	0.957	P	0.57468	0.821	T	0.59804	-0.7385	10	0.72032	D	0.01	.	7.8352	0.29365	0.8862:0.0:0.1138:0.0	.	145	Q8NH04	O2T27_HUMAN	E	145	ENSP00000342008:V145E	ENSP00000342008:V145E	V	-	2	0	OR2T27	246880375	0.000000	0.05858	0.089000	0.20774	0.057000	0.15508	0.541000	0.23207	1.511000	0.48818	0.163000	0.16589	GTG	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	A	NM_001001824		248813752	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	missense	SNP	0.019	T
OR5AC2	81050	genome.wustl.edu	37	3	97806600	97806600	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:97806600C>G	ENST00000358642.2	+	1	584	c.584C>G	c.(583-585)tCt>tGt	p.S195C		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	195					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AATGGTCCATCTATTAACGCA	0.303																																																	0													52.0	54.0	53.0					3																	97806600		2203	4299	6502	SO:0001583	missense	81050			AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.584C>G	3.37:g.97806600C>G	ENSP00000351466:p.Ser195Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S195C	ENST00000358642.2	37	c.584	CCDS33796.1	3	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191430	0.38707	.	.	ENSG00000196578	ENST00000358642	T	0.00179	8.61	4.94	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	1.486640	0.05173	U	0.499924	T	0.00608	0.0020	M	0.88570	2.965	0.09310	N	1	D	0.67145	0.996	D	0.67231	0.95	T	0.49698	-0.8912	10	0.56958	D	0.05	-19.2358	3.7822	0.08684	0.1614:0.5228:0.2276:0.0883	.	195	Q9NZP5	O5AC2_HUMAN	C	195	ENSP00000351466:S195C	ENSP00000351466:S195C	S	+	2	0	OR5AC2	99289290	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-2.944000	0.00681	0.355000	0.24131	0.590000	0.80494	TCT	OR5AC2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.303	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AC2	HGNC	protein_coding	OTTHUMT00000359116.1	C			97806600	+1	no_errors	ENST00000358642	ensembl	human	known	70_37	missense	SNP	0.001	G
PABPN1L	390748	genome.wustl.edu	37	16	88930774	88930774	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:88930774C>G	ENST00000419291.2	-	6	679	c.668G>C	c.(667-669)aGa>aCa	p.R223T	PABPN1L_ENST00000427766.1_Missense_Mutation_p.K187N|PABPN1L_ENST00000411789.2_Missense_Mutation_p.E194Q|PABPN1L_ENST00000378358.4_Missense_Mutation_p.R223T	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	223	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						GAAGTTGGTTCTTTTCGGCAG	0.672																																																	0													36.0	41.0	39.0					16																	88930774		1902	4060	5962	SO:0001583	missense	390748				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"""RNA binding motif (RRM) containing"""	37237	protein-coding gene	gene with protein product	"""embryonic poly(A) binding protein 2"""					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.668G>C	16.37:g.88930774C>G	ENSP00000408598:p.Arg223Thr		A1L3B3|A2VDI2	Missense_Mutation	SNP	NULL	p.K187N	ENST00000419291.2	37	c.561	CCDS45547.2	16	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.55|16.55|16.55	3.155648|3.155648|3.155648	0.57259|0.57259|0.57259	.|.|.	.|.|.	ENSG00000205022|ENSG00000205022|ENSG00000205022	ENST00000411789|ENST00000427766;ENST00000547152|ENST00000378358;ENST00000419291	.|.|T;T	.|.|0.74842	.|.|-0.88;-0.88	5.12|5.12|5.12	4.16|4.16|4.16	0.48862|0.48862|0.48862	.|.|RNA recognition motif domain (1);	.|.|0.045811	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.81418|0.81418|0.81418	0.4818|0.4818|0.4818	M|M|M	0.90252|0.90252|0.90252	3.1|3.1|3.1	0.25427|0.25427|0.25427	N|N|N	0.988211|0.988211|0.988211	D|D|P;D	0.63046|0.71674|0.61080	0.992|0.998|0.8;0.989	D|D|B;P	0.68192|0.71656|0.48400	0.956|0.974|0.244;0.576	T|T|T	0.77062|0.77062|0.77062	-0.2727|-0.2727|-0.2727	8|8|10	0.87932|0.27082|0.87932	D|T|D	0|0.32|0	-1.7663|-1.7663|-1.7663	11.0124|11.0124|11.0124	0.47669|0.47669|0.47669	0.0:0.843:0.0:0.157|0.0:0.843:0.0:0.157|0.0:0.843:0.0:0.157	.|.|.	194|187|223;223	A6NDY0-2|C9JEK9|A6NDY0;A6NDY0-4	.|.|EPAB2_HUMAN;.	Q|N|T	194|187|223	.|.|ENSP00000367609:R223T;ENSP00000408598:R223T	ENSP00000405259:E194Q|ENSP00000390913:K187N|ENSP00000367609:R223T	E|K|R	-|-|-	1|3|2	0|2|0	PABPN1L|PABPN1L|PABPN1L	87458275|87458275|87458275	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.642000|0.642000|0.642000	0.38348|0.38348|0.38348	4.826000|4.826000|4.826000	0.62715|0.62715|0.62715	1.151000|1.151000|1.151000	0.42436|0.42436|0.42436	0.456000|0.456000|0.456000	0.33151|0.33151|0.33151	GAA|AAG|AGA	PABPN1L	-	NULL		0.672	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPN1L	HGNC	protein_coding	OTTHUMT00000407502.1	C	NM_001080487		88930774	-1	no_errors	ENST00000427766	ensembl	human	known	70_37	missense	SNP	1.000	G
PAX7	5081	genome.wustl.edu	37	1	19062470	19062470	+	Silent	SNP	G	G	T	rs564169781	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:19062470G>T	ENST00000375375.3	+	8	2098	c.1500G>T	c.(1498-1500)ggG>ggT	p.G500G	PAX7_ENST00000400661.3_Silent_p.G498G|PAX7_ENST00000420770.2_Intron	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	500					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		tggtgtcagggtggggaatgt	0.542			T	FOXO1A	alveolar rhabdomyosarcoma								G|||	2	0.000399361	0.0	0.0	5008	,	,		17362	0.0		0.0	False		,,,				2504	0.002							Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													34.0	30.0	32.0					1																	19062470		2203	4300	6503	SO:0001819	synonymous_variant	5081			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1500G>T	1.37:g.19062470G>T			E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.G500	ENST00000375375.3	37	c.1500	CCDS186.1	1																																																																																			PAX7	-	NULL		0.542	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	G	NM_002584		19062470	+1	no_errors	ENST00000375375	ensembl	human	known	70_37	silent	SNP	0.007	T
PCDHA5	56143	genome.wustl.edu	37	5	140202138	140202138	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:140202138G>T	ENST00000529859.1	+	1	778	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V260F|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V260F|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGACATTAGTTATTAAACT	0.343																																																	0													59.0	62.0	61.0					5																	140202138		2203	4299	6502	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.778G>T	5.37:g.140202138G>T	ENSP00000436557:p.Val260Phe		O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V260F	ENST00000529859.1	37	c.778	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523379	0.44866	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.67865	-0.29;-0.29;-0.29	4.11	4.11	0.48088	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86293	0.5898	H	0.95950	3.745	0.25540	N	0.987183	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.972;0.96	T	0.78518	-0.2173	9	0.87932	D	0	.	11.3877	0.49796	0.0895:0.0:0.9105:0.0	.	260;260;260	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	F	260	ENSP00000433416:V260F;ENSP00000436557:V260F;ENSP00000367366:V260F	ENSP00000367366:V260F	V	+	1	0	PCDHA5	140182322	0.353000	0.24904	0.278000	0.24718	0.992000	0.81027	0.644000	0.24766	1.995000	0.58328	0.655000	0.94253	GTT	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.343	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	G	NM_018908		140202138	+1	no_errors	ENST00000529859	ensembl	human	known	70_37	missense	SNP	0.525	T
PCDHGA10	56106	genome.wustl.edu	37	5	140793061	140793061	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:140793061G>A	ENST00000398610.2	+	1	319	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGGTGCGTGGTGAGTTT	0.512																																																	0													69.0	82.0	78.0					5																	140793061		2127	4281	6408	SO:0001583	missense	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.319G>A	5.37:g.140793061G>A	ENSP00000381611:p.Val107Met		Q9Y5E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V107M	ENST00000398610.2	37	c.319	CCDS47292.1	5	.	.	.	.	.	.	.	.	.	.	c	10.85	1.466448	0.26335	.	.	ENSG00000253846	ENST00000398610	T	0.31510	1.49	5.78	2.89	0.33648	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27098	0.0664	M	0.67569	2.06	0.09310	N	0.999997	B;B	0.30937	0.256;0.301	B;B	0.23419	0.039;0.046	T	0.24476	-1.0159	9	0.48119	T	0.1	.	4.6784	0.12724	0.2204:0.3514:0.3561:0.072	.	107;107	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	M	107	ENSP00000381611:V107M	ENSP00000381611:V107M	V	+	1	0	PCDHGA10	140773245	0.000000	0.05858	0.963000	0.40424	0.967000	0.64934	-1.794000	0.01753	0.781000	0.33589	-0.234000	0.12200	GTG	PCDHGA10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	HGNC	protein_coding	OTTHUMT00000374747.1	G	NM_018913		140793061	+1	no_errors	ENST00000398610	ensembl	human	known	70_37	missense	SNP	0.546	A
PCF11	51585	genome.wustl.edu	37	11	82876722	82876722	+	Silent	SNP	T	T	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:82876722T>A	ENST00000298281.4	+	5	1235	c.783T>A	c.(781-783)atT>atA	p.I261I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	261					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTCACAGATTCCCCCTATGG	0.413																																																	0													50.0	47.0	48.0					11																	82876722		1851	4093	5944	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.783T>A	11.37:g.82876722T>A			A6H8W7|O43671|Q6P0X8	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.I261	ENST00000298281.4	37	c.783	CCDS44689.1	11																																																																																			PCF11	-	NULL		0.413	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	T	NM_015885		82876722	+1	no_errors	ENST00000298281	ensembl	human	known	70_37	silent	SNP	0.974	A
PCSK4	54760	genome.wustl.edu	37	19	1487842	1487842	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:1487842C>T	ENST00000300954.5	-	5	596	c.535G>A	c.(535-537)Gac>Aac	p.D179N	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATTGAAGTCATAGCTGGCC	0.697																																																	0													12.0	14.0	14.0					19																	1487842		2156	4259	6415	SO:0001583	missense	54760			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.535G>A	19.37:g.1487842C>T	ENSP00000300954:p.Asp179Asn			Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.D179N	ENST00000300954.5	37	c.535	CCDS12069.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.696088|2.696088	0.48202|0.48202	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000300954|ENST00000441747	D|.	0.87809|.	-2.3|.	2.09|2.09	2.09|2.09	0.27110|0.27110	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);|.	0.000000|.	0.47455|.	D|.	0.000227|.	T|T	0.61726|0.61726	0.2370|0.2370	M|M	0.77616|0.77616	2.38|2.38	0.51233|0.51233	D|D	0.999917|0.999917	D|B	0.89917|0.16396	1.0|0.017	D|B	0.74674|0.20184	0.984|0.028	T|T	0.65738|0.65738	-0.6095|-0.6095	10|8	0.87932|0.48119	D|T	0|0.1	.|.	11.7328|11.7328	0.51748|0.51748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	179|20	Q6UW60|B3KQ28	PCSK4_HUMAN|.	N|I	179|20	ENSP00000300954:D179N|.	ENSP00000300954:D179N|ENSP00000402772:M20I	D|M	-|-	1|3	0|0	PCSK4|PCSK4	1438842|1438842	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.709000|0.709000	0.40893|0.40893	7.459000|7.459000	0.80802|0.80802	1.501000|1.501000	0.48654|0.48654	0.491000|0.491000	0.48974|0.48974	GAC|ATG	PCSK4	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.697	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	C	NM_017573		1487842	-1	no_errors	ENST00000300954	ensembl	human	known	70_37	missense	SNP	1.000	T
PDE4C	5143	genome.wustl.edu	37	19	18322662	18322662	+	Silent	SNP	G	G	A	rs373284282		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:18322662G>A	ENST00000355502.3	-	18	2569	c.1698C>T	c.(1696-1698)gcC>gcT	p.A566A	PDE4C_ENST00000262805.12_Silent_p.A534A|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Silent_p.A281A|PDE4C_ENST00000594617.3_Silent_p.A566A|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594465.3_Silent_p.A566A|PDE4C_ENST00000447275.3_Silent_p.A460A|PDE4C_ENST00000539010.1_Silent_p.A335A|PDE4C_ENST00000597297.1_Silent_p.A336A			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	566					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGAAGAACTCGGCCATGATGC	0.607																																																	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	106.0	86.0	93.0		1698,1602,1380	-9.7	0.4	19		93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE4C	NM_000923.4,NM_001098818.2,NM_001098819.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	566/713,534/681,460/607	18322662	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1698C>T	19.37:g.18322662G>A			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A566	ENST00000355502.3	37	c.1698	CCDS12373.1	19																																																																																			PDE4C	-	pfam_PDEase_catalytic_dom,prints_PDEase		0.607	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	G			18322662	-1	no_errors	ENST00000355502	ensembl	human	known	70_37	silent	SNP	0.795	A
PEX5L	51555	genome.wustl.edu	37	3	179526207	179526207	+	Silent	SNP	C	C	T	rs200365342		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:179526207C>T	ENST00000467460.1	-	13	1701	c.1371G>A	c.(1369-1371)gtG>gtA	p.V457V	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.V433V|PEX5L_ENST00000476138.1_Silent_p.V414V|PEX5L_ENST00000485199.1_Silent_p.V422V|PEX5L_ENST00000263962.8_Silent_p.V455V|PEX5L_ENST00000472994.1_Silent_p.V398V|PEX5L_ENST00000464614.1_Silent_p.V349V|PEX5L_ENST00000468741.1_Silent_p.V265V|PEX5L_ENST00000392649.3_Silent_p.V349V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	457					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATAATTCCTTCACCCCTTCCA	0.393																																																	0													87.0	92.0	91.0					3																	179526207		2203	4300	6503	SO:0001819	synonymous_variant	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1371G>A	3.37:g.179526207C>T			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V457	ENST00000467460.1	37	c.1371	CCDS3236.1	3																																																																																			PEX5L	-	pfscan_TPR-contain_dom		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179526207	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	silent	SNP	0.999	T
PGBD2	267002	genome.wustl.edu	37	1	249212358	249212358	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:249212358G>A	ENST00000329291.5	+	3	1722	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	PGBD2_ENST00000355360.4_Silent_p.L274L|PGBD2_ENST00000539153.1_Silent_p.L522L	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	525										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGTGTATCTGGAGAGCAATG	0.532																																																	0													104.0	93.0	97.0					1																	249212358		2203	4300	6503	SO:0001819	synonymous_variant	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1575G>A	1.37:g.249212358G>A			B3KVR8|Q6MZF8	Silent	SNP	NULL	p.L525	ENST00000329291.5	37	c.1575	CCDS31128.1	1																																																																																			PGBD2	-	NULL		0.532	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	HGNC	protein_coding	OTTHUMT00000097318.1	G			249212358	+1	no_errors	ENST00000329291	ensembl	human	known	70_37	silent	SNP	0.977	A
PHTF2	57157	genome.wustl.edu	37	7	77567158	77567158	+	Intron	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:77567158G>T	ENST00000248550.7	+	12	1543				PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000422959.2_Intron|PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000307305.8_Intron|PHTF2_ENST00000424760.1_Intron|PHTF2_ENST00000416283.2_Intron			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGAACAGAGTGAGTTTTTAAA	0.294																																																	0													53.0	51.0	52.0					7																	77567158		1797	4062	5859	SO:0001627	intron_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1467+3G>T	7.37:g.77567158G>T			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	RNA	SNP	-	NULL	ENST00000248550.7	37	NULL		7																																																																																			PHTF2	-	-		0.294	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	G	NM_020432		77567158	+1	no_errors	ENST00000454592	ensembl	human	known	70_37	rna	SNP	0.997	T
PINK1	65018	genome.wustl.edu	37	1	20977197	20977197	+	3'UTR	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:20977197G>A	ENST00000321556.4	+	0	1853				PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1						activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCCTGCATGGAGCTGGTGAA	0.547																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												0													31.0	28.0	29.0					1																	20977197		2203	4300	6503	SO:0001624	3_prime_UTR_variant	65018			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.*13G>A	1.37:g.20977197G>A			Q8N6T9|Q8NBU3|Q96DE4	RNA	SNP	-	NULL	ENST00000321556.4	37	NULL	CCDS211.1	1																																																																																			PINK1	-	-		0.547	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	G	NM_032409		20977197	+1	no_errors	ENST00000400490	ensembl	human	known	70_37	rna	SNP	0.000	A
PKD1	5310	genome.wustl.edu	37	16	2155420	2155420	+	Missense_Mutation	SNP	G	G	A	rs141175694		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:2155420G>A	ENST00000262304.4	-	21	8127	c.7919C>T	c.(7918-7920)gCc>gTc	p.A2640V	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.A2640V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2640	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGTATCTGGGCTCGGTGCTG	0.652																																																	0									VAL/ALA,VAL/ALA	0,2630		0,0,1315	44.0	63.0	56.0		7919,7919	2.7	0.9	16	dbSNP_134	56	1,4721		0,1,2360	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	64,64	0,1,3675	AA,AG,GG		0.0212,0.0,0.0136	benign,benign	2640/4303,2640/4304	2155420	1,7351	1315	2361	3676	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7919C>T	16.37:g.2155420G>A	ENSP00000262304:p.Ala2640Val		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A2640V	ENST00000262304.4	37	c.7919	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	7.093	0.572624	0.13623	0.0	2.12E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.34667	1.35;1.35	4.76	2.7	0.31948	Egg jelly receptor, REJ-like (1);Polycystin cation channel (1);	0.431846	0.25313	N	0.031565	T	0.23330	0.0564	L	0.31207	0.915	0.25504	N	0.987521	B;B	0.25850	0.136;0.015	B;B	0.22880	0.042;0.008	T	0.13495	-1.0507	10	0.23891	T	0.37	.	10.1323	0.42687	0.0756:0.1368:0.7876:0.0	.	2640;2640	P98161-3;P98161	.;PKD1_HUMAN	V	2640;2640;1975;919	ENSP00000262304:A2640V;ENSP00000399501:A2640V	ENSP00000262304:A2640V	A	-	2	0	PKD1	2095421	0.996000	0.38824	0.928000	0.36995	0.183000	0.23260	1.466000	0.35310	1.244000	0.43870	0.544000	0.68410	GCC	PKD1	-	pfscan_REJ-like,tigrfam_Polycystin_cat		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2155420	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.873	A
PKD1	5310	genome.wustl.edu	37	16	2157691	2157691	+	Intron	SNP	G	G	C	rs115557412	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:2157691G>C	ENST00000262304.4	-	16	7274				PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Intron	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)						anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGGCTTGAAGACTGTACGTG	0.522																																																	0																																										SO:0001627	intron_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7065+192C>G	16.37:g.2157691G>C			Q15140|Q15141	RNA	SNP	-	NULL	ENST00000262304.4	37	NULL	CCDS32369.1	16																																																																																			PKD1	-	-		0.522	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2157691	-1	no_errors	ENST00000483558	ensembl	human	known	70_37	rna	SNP	0.001	C
PKD1	5310	genome.wustl.edu	37	16	2159882	2159882	+	Silent	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:2159882G>T	ENST00000262304.4	-	15	5494	c.5286C>A	c.(5284-5286)acC>acA	p.T1762T	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.T1762T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1762	PKD 13. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGGCTCGGAGGTCTCCCAGC	0.632																																																	0													50.0	46.0	47.0					16																	2159882		2192	4297	6489	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5286C>A	16.37:g.2159882G>T			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.T1762	ENST00000262304.4	37	c.5286	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.632	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2159882	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.069	T
PKNOX2	63876	genome.wustl.edu	37	11	125280125	125280125	+	Missense_Mutation	SNP	G	G	C	rs572689602		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:125280125G>C	ENST00000298282.9	+	8	893	c.622G>C	c.(622-624)Gga>Cga	p.G208R	PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.G208R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTCCATGTCCGGAGTCTCCAA	0.572																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											124.0	129.0	127.0					11																	125280125		2066	4220	6286	SO:0001583	missense	63876			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.622G>C	11.37:g.125280125G>C	ENSP00000298282:p.Gly208Arg		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G208R	ENST00000298282.9	37	c.622	CCDS41730.1	11	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317008	0.60524	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84516	-1.86;-1.86;-1.85;-1.85	5.62	5.62	0.85841	.	0.092956	0.44902	D	0.000403	T	0.80829	0.4698	L	0.32530	0.975	0.48288	D	0.999629	B;B	0.30542	0.284;0.199	B;B	0.32090	0.14;0.062	T	0.76683	-0.2869	10	0.30854	T	0.27	-6.3419	19.2564	0.93947	0.0:0.0:1.0:0.0	.	144;208	F5GZ15;Q96KN3	.;PKNX2_HUMAN	R	179;179;208;144;196	ENSP00000434732:G179R;ENSP00000433971:G179R;ENSP00000298282:G208R;ENSP00000441470:G144R	ENSP00000298282:G208R	G	+	1	0	PKNOX2	124785335	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	2.633000	0.89246	0.655000	0.94253	GGA	PKNOX2	-	NULL		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3	G			125280125	+1	no_errors	ENST00000298282	ensembl	human	known	70_37	missense	SNP	1.000	C
PLCH1	23007	genome.wustl.edu	37	3	155200357	155200357	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:155200357G>C	ENST00000340059.7	-	23	3481	c.3482C>G	c.(3481-3483)tCt>tGt	p.S1161C	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1123C|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1123C|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1123C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1161					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGGTATGTCAGAACAGAGCAT	0.433																																																	0													79.0	76.0	77.0					3																	155200357		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3482C>G	3.37:g.155200357G>C	ENSP00000345988:p.Ser1161Cys		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S1161C	ENST00000340059.7	37	c.3482	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921908	0.52653	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.57	4.7	0.59300	.	0.979395	0.08436	N	0.946173	T	0.46367	0.1389	L	0.29908	0.895	0.09310	N	1	D;P	0.55385	0.971;0.951	P;B	0.49047	0.599;0.395	T	0.34129	-0.9841	10	0.87932	D	0	.	10.0925	0.42456	0.0711:0.0:0.7921:0.1368	.	1123;1161	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1123;1161;1123;1123	ENSP00000417502:S1123C;ENSP00000345988:S1161C;ENSP00000335469:S1123C;ENSP00000412977:S1123C	ENSP00000335469:S1123C	S	-	2	0	PLCH1	156683051	1.000000	0.71417	0.004000	0.12327	0.018000	0.09664	6.456000	0.73501	1.356000	0.45884	0.591000	0.81541	TCT	PLCH1	-	NULL		0.433	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155200357	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.007	C
PLEKHA8P1	51054	genome.wustl.edu	37	12	45568252	45568252	+	RNA	SNP	T	T	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:45568252T>A	ENST00000256692.5	-	0	433					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCCGCCGCTATCTTTCAGG	0.473																																																	0																																												51054			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568252T>A				RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-		0.473	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1	T	NR_037144		45568252	-1	no_errors	ENST00000256692	ensembl	human	known	70_37	rna	SNP	1.000	A
PLIN4	729359	genome.wustl.edu	37	19	4512512	4512512	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:4512512C>A	ENST00000301286.3	-	3	1417	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	473	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTGTCCAGGCCGCCCTGGAC	0.607																																																	0													102.0	114.0	110.0					19																	4512512		1958	4143	6101	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1418G>T	19.37:g.4512512C>A	ENSP00000301286:p.Gly473Val		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.G473V	ENST00000301286.3	37	c.1418	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776746	0.49786	.	.	ENSG00000167676	ENST00000301286	T	0.15603	2.41	5.23	5.23	0.72850	.	0.244644	0.28683	N	0.014500	T	0.45895	0.1365	M	0.87547	2.89	0.19575	N	0.999964	D	0.89917	1.0	D	0.91635	0.999	T	0.45116	-0.9283	10	0.62326	D	0.03	-33.8924	12.1296	0.53936	0.0:0.8269:0.1731:0.0	.	473	Q96Q06	PLIN4_HUMAN	V	473	ENSP00000301286:G473V	ENSP00000301286:G473V	G	-	2	0	PLIN4	4463512	0.016000	0.18221	0.006000	0.13384	0.001000	0.01503	1.755000	0.38379	2.459000	0.83118	0.549000	0.68633	GGC	PLIN4	-	superfamily_Ankyrin_rpt-contain_dom		0.607	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4512512	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.008	A
PPL	5493	genome.wustl.edu	37	16	4938172	4938172	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:4938172C>G	ENST00000345988.2	-	20	2534	c.2445G>C	c.(2443-2445)gaG>gaC	p.E815D	PPL_ENST00000590782.2_Missense_Mutation_p.E813D	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	815					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCTTCCATTCTCCAAGTCGA	0.527																																																	0													141.0	122.0	128.0					16																	4938172		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2445G>C	16.37:g.4938172C>G	ENSP00000340510:p.Glu815Asp		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E815D	ENST00000345988.2	37	c.2445	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772246	0.69992	.	.	ENSG00000118898	ENST00000345988	T	0.54675	0.56	5.21	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.76002	2.32	0.41927	D	0.99054	D	0.69078	0.997	D	0.72625	0.978	T	0.68390	-0.5421	10	0.62326	D	0.03	.	8.415	0.32666	0.0:0.646:0.0:0.3539	.	815	O60437	PEPL_HUMAN	D	815	ENSP00000340510:E815D	ENSP00000340510:E815D	E	-	3	2	PPL	4878173	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.992000	0.29667	1.213000	0.43380	0.561000	0.74099	GAG	PPL	-	smart_Spectrin/alpha-actinin		0.527	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4938172	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R16B	26051	genome.wustl.edu	37	20	37536735	37536735	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:37536735G>C	ENST00000299824.1	+	10	1282	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E323Q	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	365					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GTATGAGGGAGAGGCCATCCT	0.597																																																	0													111.0	96.0	101.0					20																	37536735		2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1093G>C	20.37:g.37536735G>C	ENSP00000299824:p.Glu365Gln		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E365Q	ENST00000299824.1	37	c.1093	CCDS13309.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.255690|5.255690	0.95336|0.95336	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.80738	.|-0.58;-1.41	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.051392|0.051392	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.84437|0.84437	0.5472|0.5472	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.994	D|D	0.84392|0.84392	0.0555|0.0555	6|10	.|0.45353	.|T	.|0.12	.|.	20.0987|20.0987	0.97860|0.97860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|323;365	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	D|Q	265|365;323	.|ENSP00000299824:E365Q;ENSP00000362428:E323Q	.|ENSP00000299824:E365Q	E|E	+|+	3|1	2|0	PPP1R16B|PPP1R16B	36970149|36970149	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	9.253000|9.253000	0.95501|0.95501	2.771000|2.771000	0.95319|0.95319	0.644000|0.644000	0.83932|0.83932	GAG|GAG	PPP1R16B	-	pirsf_Pase-1_reg_su_16AB_euk		0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	G	NM_015568		37536735	+1	no_errors	ENST00000299824	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP3CC	5533	genome.wustl.edu	37	8	22398215	22398215	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:22398215G>A	ENST00000240139.5	+	14	1766	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	RP11-582J16.4_ENST00000514980.1_RNA|PPP3CC_ENST00000289963.8_Missense_Mutation_p.R470Q|PPP3CC_ENST00000397775.3_Missense_Mutation_p.R489Q	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	480					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		ATGCCACCCCGAAAGGATAGC	0.512																																																	0													97.0	95.0	96.0					8																	22398215		2203	4300	6503	SO:0001583	missense	5533				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1439G>A	8.37:g.22398215G>A	ENSP00000240139:p.Arg480Gln		B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.R480Q	ENST00000240139.5	37	c.1439	CCDS34859.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.300273	0.95574	.	.	ENSG00000120910	ENST00000240139;ENST00000289963;ENST00000397775	T;T;T	0.15603	2.42;2.5;2.41	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	L	0.32530	0.975	0.80722	D	1	D;D;D	0.57571	0.966;0.98;0.966	P;P;P	0.48873	0.579;0.593;0.579	T	0.00501	-1.1702	10	0.48119	T	0.1	-8.1231	18.0311	0.89285	0.0:0.0:1.0:0.0	.	489;470;480	B4DRT5;P48454-2;P48454	.;.;PP2BC_HUMAN	Q	480;470;489	ENSP00000240139:R480Q;ENSP00000289963:R470Q;ENSP00000380878:R489Q	ENSP00000240139:R480Q	R	+	2	0	PPP3CC	22454160	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	9.619000	0.98369	2.543000	0.85770	0.655000	0.94253	CGA	PPP3CC	-	NULL		0.512	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	HGNC	protein_coding	OTTHUMT00000375652.1	G	NM_005605		22398215	+1	no_errors	ENST00000240139	ensembl	human	known	70_37	missense	SNP	1.000	A
PRPF8	10594	genome.wustl.edu	37	17	1561948	1561948	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:1561948C>G	ENST00000572621.1	-	32	5513	c.5248G>C	c.(5248-5250)Ggg>Cgg	p.G1750R	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1750R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1750	Involved in interaction with pre-mRNA 5' splice site.|Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGCTGTAGCCCCTTGCGGATC	0.493																																																	0													145.0	128.0	134.0					17																	1561948		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5248G>C	17.37:g.1561948C>G	ENSP00000460348:p.Gly1750Arg		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.G1750R	ENST00000572621.1	37	c.5248	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	c	23.0	4.365814	0.82463	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	T	0.80909	-1.43	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	H	0.95079	3.62	0.80722	D	1	P	0.46277	0.875	P	0.55999	0.789	D	0.93489	0.6834	10	0.87932	D	0	-16.9033	20.2946	0.98546	0.0:1.0:0.0:0.0	.	1750	Q6P2Q9	PRP8_HUMAN	R	1750;275	ENSP00000304350:G1750R	ENSP00000304350:G1750R	G	-	1	0	PRPF8	1508698	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	7.818000	0.86416	2.804000	0.96469	0.462000	0.41574	GGG	PRPF8	-	NULL		0.493	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	C			1561948	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRD	5789	genome.wustl.edu	37	9	8465527	8465527	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:8465527T>C	ENST00000381196.4	-	29	4196	c.3653A>G	c.(3652-3654)cAa>cGa	p.Q1218R	PTPRD_ENST00000537002.1_Missense_Mutation_p.Q804R|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q797R|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1196R|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q807R|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1205R|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q807R|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q797R|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q804R|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1218R|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1218R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1218					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTTTGGAGTTGCTTGTTTGT	0.413										TSP Lung(15;0.13)																																							0													185.0	170.0	175.0					9																	8465527		2203	4299	6502	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3653A>G	9.37:g.8465527T>C	ENSP00000370593:p.Gln1218Arg		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1218R	ENST00000381196.4	37	c.3653	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501012	0.64298	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.5	5.5	0.81552	.	0.122177	0.64402	D	0.000014	T	0.48040	0.1478	N	0.12182	0.205	0.58432	D	0.999999	B;P;P;B;B;P;B;B;B	0.48294	0.003;0.851;0.851;0.137;0.001;0.908;0.001;0.075;0.028	B;P;P;B;B;P;B;B;B	0.61397	0.003;0.775;0.775;0.029;0.022;0.888;0.007;0.055;0.031	T	0.46762	-0.9168	9	.	.	.	.	15.5717	0.76345	0.0:0.0:0.0:1.0	.	797;802;807;807;804;804;1205;1218;1218	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1218;1218;1205;1196;807;797;804;804;689;1218;807;797	ENSP00000370593:Q1218R;ENSP00000348812:Q1218R;ENSP00000353187:Q1205R;ENSP00000351293:Q1196R;ENSP00000347373:Q807R;ENSP00000380741:Q797R;ENSP00000380735:Q804R;ENSP00000440515:Q804R;ENSP00000438164:Q1218R;ENSP00000417093:Q807R;ENSP00000380731:Q797R	.	Q	-	2	0	PTPRD	8455527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.217000	0.71921	0.528000	0.53228	CAA	PTPRD	-	NULL		0.413	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	T			8465527	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	C
PRUNE2	158471	genome.wustl.edu	37	9	79259658	79259658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:79259658C>A	ENST00000376718.3	-	12	8848	c.8725G>T	c.(8725-8727)Gga>Tga	p.G2909*	PRUNE2_ENST00000443509.2_Nonsense_Mutation_p.G158*|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.G2551*|PRUNE2_ENST00000223609.6_Nonsense_Mutation_p.G174*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2909	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGACTACCTCCGTGAGAAATG	0.493																																																	0													105.0	90.0	95.0					9																	79259658		1568	3582	5150	SO:0001587	stop_gained	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8725G>T	9.37:g.79259658C>A	ENSP00000365908:p.Gly2909*		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.G2551*	ENST00000376718.3	37	c.7651	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.333039|5.333039	0.95758|0.95758	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81093	.|0.4751	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78443	.|-0.2202	.|3	0.59425|.	D|.	0.04|.	.|.	20.6244|20.6244	0.99512|0.99512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	174;2909;2551;127;158;79;174;2909|2230	.|.	ENSP00000223609:G174X|.	G|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78449478|78449478	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.474000|0.474000	0.32979|0.32979	7.487000|7.487000	0.81328|0.81328	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GGA|CGG	PRUNE2	-	pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79259658	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RAD21	5885	genome.wustl.edu	37	8	117875499	117875499	+	Splice_Site	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr8:117875499C>T	ENST00000297338.2	-	3	432		c.e3-1		RAD21_ENST00000523547.1_Splice_Site	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCATTTTCACCTATGAATAAA	0.353																																																	0													127.0	124.0	125.0					8																	117875499		2203	4300	6503	SO:0001630	splice_region_variant	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.145-1G>A	8.37:g.117875499C>T			A8K0E0|Q15001|Q99568	Splice_Site	SNP	-	e2-1	ENST00000297338.2	37	c.145-1	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407458	0.83230	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4192	0.94713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAD21	117944680	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	7.757000	0.85209	2.586000	0.87340	0.650000	0.86243	.	RAD21	-	-		0.353	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	C	NM_006265	Intron	117875499	-1	no_errors	ENST00000297338	ensembl	human	known	70_37	splice_site	SNP	1.000	T
RAPGEF4	11069	genome.wustl.edu	37	2	173679324	173679324	+	Intron	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:173679324A>G	ENST00000397081.3	+	4	587				RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000264111.6_Intron	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGCCATTTTGACACAAGACAT	0.308																																																	0																																										SO:0001627	intron_variant	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.444+171A>G	2.37:g.173679324A>G			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	RNA	SNP	-	NULL	ENST00000397081.3	37	NULL	CCDS42775.1	2																																																																																			RAPGEF4	-	-		0.308	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	A	NM_007023		173679324	+1	no_errors	ENST00000464976	ensembl	human	known	70_37	rna	SNP	1.000	G
RASGRF2	5924	genome.wustl.edu	37	5	80256591	80256591	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:80256591G>A	ENST00000265080.4	+	1	101	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	12					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CGAGGGGCACGCCCTGTACCT	0.692																																																	0													18.0	20.0	19.0					5																	80256591		2202	4299	6501	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.34G>A	5.37:g.80256591G>A	ENSP00000265080:p.Ala12Thr		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A12T	ENST00000265080.4	37	c.34	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	16.96	3.264758	0.59431	.	.	ENSG00000113319	ENST00000265080	T	0.75154	-0.91	4.22	4.22	0.49857	.	0.065209	0.64402	D	0.000010	T	0.57946	0.2088	N	0.22421	0.69	0.36004	D	0.837558	B	0.14438	0.01	B	0.09377	0.004	T	0.60632	-0.7225	10	0.35671	T	0.21	.	9.1632	0.37035	0.1033:0.0:0.8967:0.0	.	12	O14827	RGRF2_HUMAN	T	12	ENSP00000265080:A12T	ENSP00000265080:A12T	A	+	1	0	RASGRF2	80292347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.747000	0.68689	1.900000	0.55004	0.556000	0.70494	GCC	RASGRF2	-	NULL		0.692	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	G	NM_006909		80256591	+1	no_errors	ENST00000265080	ensembl	human	known	70_37	missense	SNP	1.000	A
RASGEF1C	255426	genome.wustl.edu	37	5	179545796	179545796	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:179545796G>A	ENST00000393371.2	-	8	1274	c.978C>T	c.(976-978)ttC>ttT	p.F326F	RASGEF1C_ENST00000361132.4_Silent_p.F326F|RASGEF1C_ENST00000522500.1_Silent_p.F175F|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	326	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCGAGGATGAAAAACTTGG	0.607																																																	0													113.0	120.0	117.0					5																	179545796		2203	4300	6503	SO:0001819	synonymous_variant	255426			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.978C>T	5.37:g.179545796G>A			D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F326	ENST00000393371.2	37	c.978	CCDS4452.1	5																																																																																			RASGEF1C	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.607	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	G	NM_175062		179545796	-1	no_errors	ENST00000361132	ensembl	human	known	70_37	silent	SNP	1.000	A
RASIP1	54922	genome.wustl.edu	37	19	49225250	49225250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:49225250C>T	ENST00000222145.4	-	11	2757	c.2553G>A	c.(2551-2553)tgG>tgA	p.W851*	MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000377367.3_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	851	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TTAGGCTGCTCCATGAAGCCT	0.612																																																	0													57.0	56.0	56.0					19																	49225250		2203	4300	6503	SO:0001587	stop_gained	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2553G>A	19.37:g.49225250C>T	ENSP00000222145:p.Trp851*		Q6U676	Nonsense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.W851*	ENST00000222145.4	37	c.2553	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.840911	0.98519	.	.	ENSG00000105538	ENST00000222145	.	.	.	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.308	15.1049	0.72312	0.0:1.0:0.0:0.0	.	.	.	.	X	851	.	ENSP00000222145:W851X	W	-	3	0	RASIP1	53917062	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.483000	0.73617	2.515000	0.84797	0.484000	0.47621	TGG	RASIP1	-	pfam_Dil_domain,pfscan_Dilute		0.612	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	C	NM_017805		49225250	-1	no_errors	ENST00000222145	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RBPJL	11317	genome.wustl.edu	37	20	43944948	43944948	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:43944948C>T	ENST00000343694.3	+	10	1214	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	RBPJL_ENST00000372743.1_Missense_Mutation_p.P381L|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.P381L	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	381					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ACCCTGGAGCCGGTCACTCCG	0.637																																																	0													57.0	52.0	54.0					20																	43944948		2203	4300	6503	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1142C>T	20.37:g.43944948C>T	ENSP00000341243:p.Pro381Leu		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.P381L	ENST00000343694.3	37	c.1142	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618290	0.66787	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.23147	1.92;1.92;1.92	4.69	4.69	0.59074	Immunoglobulin E-set (1);	0.000000	0.64402	D	0.000003	T	0.24890	0.0604	M	0.73217	2.22	0.80722	D	1	D;D	0.57257	0.979;0.958	B;B	0.30316	0.114;0.065	T	0.40590	-0.9555	10	0.59425	D	0.04	-29.4361	16.8366	0.85958	0.0:1.0:0.0:0.0	.	381;381	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	L	381	ENSP00000361828:P381L;ENSP00000361826:P381L;ENSP00000341243:P381L	ENSP00000341243:P381L	P	+	2	0	RBPJL	43378362	1.000000	0.71417	0.905000	0.35620	0.259000	0.26198	5.564000	0.67359	2.433000	0.82419	0.650000	0.86243	CCG	RBPJL	-	superfamily_Ig_E-set		0.637	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	C	NM_014276		43944948	+1	no_errors	ENST00000343694	ensembl	human	known	70_37	missense	SNP	0.999	T
RNF128	79589	genome.wustl.edu	37	X	105970452	105970452	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:105970452G>A	ENST00000255499.2	+	1	559	c.309G>A	c.(307-309)acG>acA	p.T103T	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	103	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CGAATTTCACGGTGCCCACGG	0.647																																																	0													29.0	28.0	28.0					X																	105970452		2203	4300	6503	SO:0001819	synonymous_variant	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.309G>A	X.37:g.105970452G>A			A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T103	ENST00000255499.2	37	c.309	CCDS14521.1	X																																																																																			RNF128	-	NULL		0.647	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057804.1	G	NM_024539		105970452	+1	no_errors	ENST00000255499	ensembl	human	known	70_37	silent	SNP	0.998	A
RTKN2	219790	genome.wustl.edu	37	10	63957838	63957838	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr10:63957838C>T	ENST00000373789.3	-	12	1755	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	553					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CCATTGGTTTCTGTAAGTGAT	0.418																																																	0													206.0	184.0	192.0					10																	63957838		2203	4300	6503	SO:0001819	synonymous_variant	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1659G>A	10.37:g.63957838C>T			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q553	ENST00000373789.3	37	c.1659	CCDS7263.1	10																																																																																			RTKN2	-	NULL		0.418	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	C	NM_145307		63957838	-1	no_errors	ENST00000373789	ensembl	human	known	70_37	silent	SNP	1.000	T
SCNN1A	6337	genome.wustl.edu	37	12	6464457	6464457	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:6464457G>T	ENST00000228916.2	-	6	1222	c.1124C>A	c.(1123-1125)aCc>aAc	p.T375N	SCNN1A_ENST00000396966.2_Missense_Mutation_p.T375N|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.T375N|SCNN1A_ENST00000360168.3_Missense_Mutation_p.T434N|SCNN1A_ENST00000543768.1_Missense_Mutation_p.T398N|SCNN1A_ENST00000540037.1_Missense_Mutation_p.T75N	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	375					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCTGATGGAGGTCTCCACGCC	0.617																																																	0													54.0	45.0	48.0					12																	6464457		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1124C>A	12.37:g.6464457G>T	ENSP00000228916:p.Thr375Asn		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T375N	ENST00000228916.2	37	c.1124	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331469	0.81690	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.91	4.91	0.64330	.	2.762270	0.01813	N	0.033576	D	0.86818	0.6024	M	0.90650	3.135	0.53005	D	0.999967	D;D;D	0.60575	0.988;0.957;0.964	D;P;P	0.63381	0.914;0.649;0.477	T	0.73603	-0.3930	10	0.62326	D	0.03	-5.766	15.6094	0.76704	0.0:0.0:1.0:0.0	.	398;375;434	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	N	434;375;75;375;375;398	ENSP00000353292:T434N;ENSP00000351825:T375N;ENSP00000440876:T75N;ENSP00000228916:T375N;ENSP00000380166:T375N;ENSP00000438739:T398N	ENSP00000228916:T375N	T	-	2	0	SCNN1A	6334718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.529000	0.67135	2.268000	0.75426	0.561000	0.74099	ACC	SCNN1A	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.617	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	G			6464457	-1	no_errors	ENST00000358945	ensembl	human	known	70_37	missense	SNP	1.000	T
SCARB1	949	genome.wustl.edu	37	12	125298946	125298946	+	Silent	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:125298946C>A	ENST00000415380.2	-	4	557	c.432G>T	c.(430-432)gcG>gcT	p.A144A	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Silent_p.A144A|SCARB1_ENST00000540495.1_Silent_p.A107A|SCARB1_ENST00000544327.1_Silent_p.A90A|SCARB1_ENST00000541205.1_Silent_p.A103A|SCARB1_ENST00000339570.5_Silent_p.A144A|SCARB1_ENST00000546215.1_Silent_p.A144A|SCARB1_ENST00000376788.1_Silent_p.A44A			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	144					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCATCACCGCCGCACCCTGCA	0.602																																																	0													95.0	74.0	81.0					12																	125298946		2203	4300	6503	SO:0001819	synonymous_variant	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.432G>T	12.37:g.125298946C>A			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.A144	ENST00000415380.2	37	c.432		12																																																																																			SCARB1	-	pfam_CD36		0.602	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	C	NM_005505		125298946	-1	no_errors	ENST00000415380	ensembl	human	known	70_37	silent	SNP	0.000	A
SERPINA7	6906	genome.wustl.edu	37	X	105277520	105277520	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:105277520C>A	ENST00000327674.4	-	4	1554	c.1219G>T	c.(1219-1221)Ggg>Tgg	p.G407W	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.G407W			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	407					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACAACTTTCCCTAGAAAGAGA	0.393																																																	0													162.0	166.0	164.0					X																	105277520		2203	4299	6502	SO:0001583	missense	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.1219G>T	X.37:g.105277520C>A	ENSP00000329374:p.Gly407Trp		D3DUX1	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.G407W	ENST00000327674.4	37	c.1219	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839500	0.51057	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.99070	-5.39;-5.39	4.9	3.14	0.36123	Serpin domain (3);	0.082168	0.52532	D	0.000078	D	0.99471	0.9812	H	0.98256	4.185	0.40026	D	0.975471	D	0.89917	1.0	D	0.97110	1.0	D	0.98735	1.0714	10	0.87932	D	0	.	8.6397	0.33970	0.0:0.8077:0.0:0.1923	.	407	P05543	THBG_HUMAN	W	407	ENSP00000329374:G407W;ENSP00000361644:G407W	ENSP00000329374:G407W	G	-	1	0	SERPINA7	105164176	1.000000	0.71417	0.998000	0.56505	0.464000	0.32679	6.915000	0.75770	0.591000	0.29711	0.594000	0.82650	GGG	SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.393	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	C	NM_000354		105277520	-1	no_errors	ENST00000327674	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC32A1	140679	genome.wustl.edu	37	20	37357017	37357017	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr20:37357017C>T	ENST00000217420.1	+	2	1576	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	438					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGCGCTGCGCGCTCGTCGTC	0.667																																																	0													30.0	32.0	31.0					20																	37357017		2203	4299	6502	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1313C>T	20.37:g.37357017C>T	ENSP00000217420:p.Ala438Val		Q8N489	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A438V	ENST00000217420.1	37	c.1313	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	C	7.667	0.686087	0.14973	.	.	ENSG00000101438	ENST00000217420	T	0.02301	4.35	4.89	4.89	0.63831	.	0.241467	0.40818	N	0.001015	T	0.01870	0.0059	N	0.17723	0.515	0.49483	D	0.99979	B	0.16166	0.016	B	0.15484	0.013	T	0.41431	-0.9509	10	0.05620	T	0.96	-28.1095	15.8953	0.79329	0.0:1.0:0.0:0.0	.	438	Q9H598	VIAAT_HUMAN	V	438	ENSP00000217420:A438V	ENSP00000217420:A438V	A	+	2	0	SLC32A1	36790431	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.097000	0.41748	2.436000	0.82500	0.655000	0.94253	GCG	SLC32A1	-	pfam_AA_transpt_TM		0.667	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1	C	NM_080552		37357017	+1	no_errors	ENST00000217420	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC39A3	29985	genome.wustl.edu	37	19	2733271	2733271	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:2733271C>T	ENST00000269740.4	-	3	752	c.423G>A	c.(421-423)gcG>gcA	p.A141A	SLC39A3_ENST00000545664.1_Silent_p.A141A|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	141					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGCCCCGCGCGCCCCCCA	0.711																																																	0													23.0	25.0	24.0					19																	2733271		2199	4290	6489	SO:0001819	synonymous_variant	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.423G>A	19.37:g.2733271C>T			B3KMJ3|Q8WUG1	Silent	SNP	pfam_ZIP	p.A141	ENST00000269740.4	37	c.423	CCDS12093.1	19																																																																																			SLC39A3	-	pfam_ZIP		0.711	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A3	HGNC	protein_coding	OTTHUMT00000451354.2	C			2733271	-1	no_errors	ENST00000269740	ensembl	human	known	70_37	silent	SNP	0.000	T
SLC4A3	6508	genome.wustl.edu	37	2	220506409	220506409	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:220506409G>A	ENST00000358055.3	+	23	4170	c.3658G>A	c.(3658-3660)Gat>Aat	p.D1220N	SLC4A3_ENST00000317151.3_Missense_Mutation_p.D1220N|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D1220N|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D1247N|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D1247N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1220	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCGATGAGGATGGCCAGGA	0.567																																																	0													198.0	145.0	163.0					2																	220506409		2203	4300	6503	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3658G>A	2.37:g.220506409G>A	ENSP00000350756:p.Asp1220Asn		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.D1247N	ENST00000358055.3	37	c.3739	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646407	0.87958	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.35	5.35	0.76521	.	0.511408	0.21152	N	0.079308	T	0.77239	0.4101	L	0.56199	1.76	0.58432	D	0.999999	B;B;B	0.28026	0.071;0.125;0.198	B;B;B	0.29862	0.071;0.05;0.108	T	0.75733	-0.3214	10	0.62326	D	0.03	.	19.4227	0.94727	0.0:0.0:1.0:0.0	.	924;1220;1247	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	N	1220;1220;1247;1247;1220	ENSP00000350756:D1220N;ENSP00000362865:D1220N;ENSP00000273063:D1247N;ENSP00000362867:D1247N;ENSP00000314006:D1220N	ENSP00000273063:D1247N	D	+	1	0	SLC4A3	220214653	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	9.544000	0.98092	2.657000	0.90304	0.655000	0.94253	GAT	SLC4A3	-	tigrfam_HCO3_transpt_euk		0.567	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220506409	+1	no_errors	ENST00000273063	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC6A9	6536	genome.wustl.edu	37	1	44490015	44490015	+	5'UTR	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:44490015C>T	ENST00000372310.3	-	0	100				SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAGCGCCTTTCAGGCCACAGA	0.627																																																	0													45.0	47.0	46.0					1																	44490015		692	1591	2283	SO:0001623	5_prime_UTR_variant	6536			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.-66G>A	1.37:g.44490015C>T			A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	RNA	SNP	-	NULL	ENST00000372310.3	37	NULL	CCDS30695.1	1																																																																																			SLC6A9	-	-		0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022827.1	C	NM_201649		44490015	-1	no_errors	ENST00000492434	ensembl	human	known	70_37	rna	SNP	1.000	T
SLC9C1	285335	genome.wustl.edu	37	3	111923076	111923076	+	Missense_Mutation	SNP	G	G	A	rs201512353		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:111923076G>A	ENST00000305815.5	-	17	2413	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R673C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	721					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTGAAAATGCGTAGTATACGA	0.259																																																	0													30.0	31.0	31.0					3																	111923076		2193	4278	6471	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2161C>T	3.37:g.111923076G>A	ENSP00000306627:p.Arg721Cys		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R721C	ENST00000305815.5	37	c.2161	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769875	0.49680	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.98849	-5.18;-5.18	5.72	4.86	0.63082	.	0.114109	0.38720	N	0.001585	D	0.99239	0.9735	M	0.93462	3.42	0.38631	D	0.951378	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.959	D	0.99903	1.1169	10	0.87932	D	0	.	10.9289	0.47207	0.0863:0.0:0.9137:0.0	.	673;721	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	721;673	ENSP00000306627:R721C;ENSP00000420688:R673C	ENSP00000306627:R721C	R	-	1	0	SLC9A10	113405766	0.995000	0.38212	0.994000	0.49952	0.497000	0.33675	3.430000	0.52807	1.427000	0.47276	-0.448000	0.05591	CGC	SLC9C1	-	NULL		0.259	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	G	NM_183061		111923076	-1	no_errors	ENST00000305815	ensembl	human	known	70_37	missense	SNP	0.997	A
SMARCAD1	56916	genome.wustl.edu	37	4	95199770	95199770	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:95199770C>G	ENST00000354268.4	+	18	2255	c.2182C>G	c.(2182-2184)Ctc>Gtc	p.L728V	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.L298V|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L728V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	728					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GTCTCAGGTTCTCAAGCAGTT	0.328																																																	0													87.0	93.0	91.0					4																	95199770		2196	4300	6496	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2182C>G	4.37:g.95199770C>G	ENSP00000346217:p.Leu728Val		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L728V	ENST00000354268.4	37	c.2182	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082029	0.76528	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.55	5.55	0.83447	SNF2-related (1);	0.000000	0.44688	D	0.000426	D	0.95683	0.8596	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94075	0.7339	10	0.22706	T	0.39	-8.3376	12.7947	0.57553	0.0:0.9251:0.0:0.0749	.	728;728	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	V	728;728;728;298	ENSP00000351947:L728V;ENSP00000415576:L728V;ENSP00000346217:L728V;ENSP00000423286:L298V	ENSP00000346217:L728V	L	+	1	0	SMARCAD1	95418793	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.941000	0.63540	2.616000	0.88540	0.650000	0.86243	CTC	SMARCAD1	-	pfam_SNF2_N		0.328	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	C	NM_020159		95199770	+1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	G
SMIM7	79086	genome.wustl.edu	37	19	16757772	16757772	+	3'UTR	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:16757772C>T	ENST00000487416.2	-	0	559				SMIM7_ENST00000597711.1_3'UTR|SMIM7_ENST00000397349.2_5'UTR|CTC-429P9.4_ENST00000600705.1_Intron|CTC-429P9.4_ENST00000593962.1_Intron	NM_024104.3	NP_077009.2	Q9BQ49	SMIM7_HUMAN	small integral membrane protein 7							integral component of membrane (GO:0016021)											TTTCTTTTATCTATGGGGAAT	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	79086			AK025602	CCDS12348.2, CCDS74307.1	19p13.11	2012-10-26	2012-10-26	2012-10-26	ENSG00000214046	ENSG00000214046			28419	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 42"""	C19orf42		12477932	Standard	NM_024104		Approved	MGC2747	uc002ner.3	Q9BQ49	OTTHUMG00000149895	ENST00000487416.2:c.*285G>A	19.37:g.16757772C>T			A8MX44	RNA	SNP	-	NULL	ENST00000487416.2	37	NULL	CCDS12348.2	19																																																																																			SMIM7	-	-		0.383	SMIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMIM7	HGNC	protein_coding	OTTHUMT00000313801.2	C	NM_024104		16757772	-1	no_errors	ENST00000397349	ensembl	human	known	70_37	rna	SNP	0.141	T
SMIM7	79086	genome.wustl.edu	37	19	16757848	16757848	+	3'UTR	SNP	C	C	G	rs11555683		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:16757848C>G	ENST00000487416.2	-	0	483				SMIM7_ENST00000597711.1_3'UTR|SMIM7_ENST00000397349.2_5'UTR|CTC-429P9.4_ENST00000600705.1_Intron|CTC-429P9.4_ENST00000593962.1_Intron	NM_024104.3	NP_077009.2	Q9BQ49	SMIM7_HUMAN	small integral membrane protein 7							integral component of membrane (GO:0016021)											CATTTCAATTCAGAGACCAAA	0.438																																																	0													35.0	32.0	33.0					19																	16757848		692	1591	2283	SO:0001624	3_prime_UTR_variant	79086			AK025602	CCDS12348.2, CCDS74307.1	19p13.11	2012-10-26	2012-10-26	2012-10-26	ENSG00000214046	ENSG00000214046			28419	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 42"""	C19orf42		12477932	Standard	NM_024104		Approved	MGC2747	uc002ner.3	Q9BQ49	OTTHUMG00000149895	ENST00000487416.2:c.*209G>C	19.37:g.16757848C>G			A8MX44	RNA	SNP	-	NULL	ENST00000487416.2	37	NULL	CCDS12348.2	19																																																																																			SMIM7	-	-		0.438	SMIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMIM7	HGNC	protein_coding	OTTHUMT00000313801.2	C	NM_024104		16757848	-1	no_errors	ENST00000397349	ensembl	human	known	70_37	rna	SNP	0.079	G
SNAP91	9892	genome.wustl.edu	37	6	84317460	84317460	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:84317460G>A	ENST00000439399.2	-	13	1296	c.980C>T	c.(979-981)cCg>cTg	p.P327L	SNAP91_ENST00000520213.1_Missense_Mutation_p.P311L|SNAP91_ENST00000520302.1_Missense_Mutation_p.P325L|SNAP91_ENST00000521485.1_Missense_Mutation_p.P327L|SNAP91_ENST00000195649.6_Missense_Mutation_p.P327L|SNAP91_ENST00000369694.2_Missense_Mutation_p.P327L|SNAP91_ENST00000428679.2_Missense_Mutation_p.P327L|SNAP91_ENST00000437520.1_Missense_Mutation_p.P311L|SNAP91_ENST00000521743.1_Missense_Mutation_p.P327L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	327					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TAAATCAACCGGTGGGGATGT	0.388																																																	0													75.0	73.0	74.0					6																	84317460		1890	4108	5998	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.980C>T	6.37:g.84317460G>A	ENSP00000400459:p.Pro327Leu		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P327L	ENST00000439399.2	37	c.980	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051610	0.75960	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000447888	T;T;T;T;T;T;T;T;T;T	0.39997	2.37;2.38;2.38;2.37;2.34;1.05;2.36;2.38;1.05;1.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	L	0.57536	1.79	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.222	D;D;D;B	0.79108	0.992;0.988;0.988;0.056	T	0.54918	-0.8221	10	0.59425	D	0.04	-3.0915	20.2738	0.98482	0.0:0.0:1.0:0.0	.	311;325;327;325	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	L	327;327;327;327;327;311;325;327;311;325;53	ENSP00000429776:P327L;ENSP00000358708:P327L;ENSP00000400459:P327L;ENSP00000195649:P327L;ENSP00000412492:P327L;ENSP00000413277:P311L;ENSP00000428511:P325L;ENSP00000428215:P327L;ENSP00000428026:P311L;ENSP00000430071:P325L	ENSP00000195649:P327L	P	-	2	0	SNAP91	84374179	1.000000	0.71417	0.894000	0.35097	0.995000	0.86356	5.456000	0.66665	2.894000	0.99253	0.655000	0.94253	CCG	SNAP91	-	NULL		0.388	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	G			84317460	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	0.997	A
SPINT2	10653	genome.wustl.edu	37	19	38780921	38780921	+	Splice_Site	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:38780921G>T	ENST00000301244.7	+	5	988		c.e5+1		SPINT2_ENST00000454580.3_Splice_Site|SPINT2_ENST00000587090.1_Splice_Site|CTB-102L5.4_ENST00000591889.1_Splice_Site	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2						cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGCTGCTTCCGTAAGTCTGCA	0.572																																																	0													34.0	36.0	35.0					19																	38780921		2203	4300	6503	SO:0001630	splice_region_variant	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.553+1G>T	19.37:g.38780921G>T			A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Splice_Site	SNP	-	e5+1	ENST00000301244.7	37	c.553+1	CCDS12510.1	19	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861451	0.32884	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6945	0.69110	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPINT2	43472761	1.000000	0.71417	0.909000	0.35828	0.122000	0.20287	7.308000	0.78929	2.620000	0.88729	0.655000	0.94253	.	SPINT2	-	-		0.572	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINT2	HGNC	protein_coding	OTTHUMT00000458151.2	G		Intron	38780921	+1	no_errors	ENST00000301244	ensembl	human	known	70_37	splice_site	SNP	0.996	T
SPNS3	201305	genome.wustl.edu	37	17	4389539	4389539	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:4389539G>C	ENST00000355530.2	+	10	1476	c.1196G>C	c.(1195-1197)aGa>aCa	p.R399T	RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000576086.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA|SPNS3_ENST00000333476.2_Missense_Mutation_p.R272T	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	399					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GTGGTGCCCAGATGCCGGGGG	0.632																																																	0													49.0	46.0	47.0					17																	4389539		2203	4300	6503	SO:0001583	missense	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1196G>C	17.37:g.4389539G>C	ENSP00000347721:p.Arg399Thr		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R399T	ENST00000355530.2	37	c.1196	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660769	0.47572	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59083	0.29;0.29	4.78	2.77	0.32553	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.377650	0.30076	N	0.010466	T	0.27134	0.0665	N	0.10760	0.04	0.36261	D	0.854526	B;B	0.11235	0.003;0.004	B;B	0.12156	0.004;0.007	T	0.26643	-1.0097	10	0.02654	T	1	-14.7457	5.494	0.16791	0.1857:0.1659:0.6484:0.0	.	272;399	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	T	399;272	ENSP00000347721:R399T;ENSP00000333207:R272T	ENSP00000333207:R272T	R	+	2	0	SPNS3	4336288	0.849000	0.29639	0.973000	0.42090	0.942000	0.58702	1.219000	0.32479	0.700000	0.31782	0.591000	0.81541	AGA	SPNS3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	G	NM_182538		4389539	+1	no_errors	ENST00000355530	ensembl	human	known	70_37	missense	SNP	0.959	C
SRSF12	135295	genome.wustl.edu	37	6	89808550	89808550	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:89808550C>T	ENST00000452027.2	-	5	726	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	178	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CCTTGACCGTCCTCTAGAGCC	0.428																																																	0													353.0	331.0	338.0					6																	89808550		1892	4113	6005	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.533G>A	6.37:g.89808550C>T	ENSP00000414302:p.Gly178Glu		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G178E	ENST00000452027.2	37	c.533	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881332	0.33255	.	.	ENSG00000154548	ENST00000452027	T	0.07688	3.17	5.13	4.24	0.50183	.	0.124177	0.37053	N	0.002274	T	0.02455	0.0075	L	0.40543	1.245	0.37070	D	0.8985	B	0.26935	0.164	B	0.27608	0.081	T	0.12016	-1.0564	10	0.02654	T	1	.	13.164	0.59560	0.0:0.919:0.0:0.0809	.	178	Q8WXF0	SRS12_HUMAN	E	178	ENSP00000414302:G178E	ENSP00000414302:G178E	G	-	2	0	SRSF12	89865269	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.184000	0.32053	2.667000	0.90743	0.591000	0.81541	GGA	SRSF12	-	NULL		0.428	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	C	NM_080743		89808550	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	1.000	T
SSX9	280660	genome.wustl.edu	37	X	48159169	48159169	+	RNA	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:48159169C>G	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TCCTTCGAATCATTTCCTACC	0.453																																																	0													233.0	229.0	230.0					X																	48159169		2203	4299	6502			280660			BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159169C>G				Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D122H	ENST00000608568.1	37	c.364		X	.	.	.	.	.	.	.	.	.	.	c	8.955	0.969134	0.18659	.	.	ENSG00000204648	ENST00000376909;ENST00000407081	T;T	0.09163	3.01;3.01	1.21	0.285	0.15705	.	3.071690	0.01151	N	0.006425	T	0.08313	0.0207	.	.	.	0.09310	N	1	B	0.33857	0.429	B	0.40565	0.333	T	0.25745	-1.0123	9	0.13470	T	0.59	.	3.308	0.07007	0.0:0.6939:0.0:0.3061	.	122	Q7RTT3	SSX9_HUMAN	H	122	ENSP00000366107:D122H;ENSP00000385293:D122H	ENSP00000366107:D122H	D	-	1	0	SSX9	48044113	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-0.128000	0.10531	0.028000	0.15324	0.171000	0.16805	GAT	SSX9	-	NULL		0.453	SSX9-002	KNOWN	basic	retained_intron	SSX9	HGNC	pseudogene	OTTHUMT00000472372.1	C	NR_073393		48159169	-1	no_errors	ENST00000376909	ensembl	human	known	70_37	missense	SNP	0.001	G
ST8SIA4	7903	genome.wustl.edu	37	5	100231456	100231456	+	Silent	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:100231456G>C	ENST00000231461.5	-	2	457	c.147C>G	c.(145-147)gtC>gtG	p.V49V	ST8SIA4_ENST00000451528.2_Silent_p.V49V	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	49					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CAGAGCTATTGACAAGTGACC	0.378																																																	0													110.0	106.0	107.0					5																	100231456		2203	4299	6502	SO:0001819	synonymous_variant	7903			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.147C>G	5.37:g.100231456G>C			A8KA07|G3V104|Q8N1F4|Q92693	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.V49	ENST00000231461.5	37	c.147	CCDS4091.1	5																																																																																			ST8SIA4	-	pirsf_Sialyl_trans		0.378	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	G	NM_005668		100231456	-1	no_errors	ENST00000231461	ensembl	human	known	70_37	silent	SNP	1.000	C
STIL	6491	genome.wustl.edu	37	1	47726194	47726194	+	Silent	SNP	T	T	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:47726194T>A	ENST00000360380.3	-	17	3207	c.2844A>T	c.(2842-2844)ctA>ctT	p.L948L	STIL_ENST00000243182.6_Silent_p.L948L|STIL_ENST00000396221.2_Silent_p.L931L|STIL_ENST00000371877.3_Silent_p.L949L|STIL_ENST00000337817.5_Silent_p.L948L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	948					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AACTATTTAATAGGTGGTTTA	0.373																																																	0													118.0	117.0	117.0					1																	47726194		2203	4300	6503	SO:0001819	synonymous_variant	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2844A>T	1.37:g.47726194T>A			Q5T0C5|Q68CN9	Silent	SNP	NULL	p.L949	ENST00000360380.3	37	c.2847	CCDS548.1	1																																																																																			STIL	-	NULL		0.373	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	T	NM_003035		47726194	-1	no_errors	ENST00000371877	ensembl	human	known	70_37	silent	SNP	0.165	A
STXBP5L	9515	genome.wustl.edu	37	3	120998662	120998662	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:120998662G>C	ENST00000273666.6	+	19	2240	c.1969G>C	c.(1969-1971)Ggg>Cgg	p.G657R	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G657R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G657R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G657R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G657R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	657					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTTGCATTTGGGAACTGCAA	0.348																																																	0													164.0	153.0	156.0					3																	120998662		1866	4097	5963	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1969G>C	3.37:g.120998662G>C	ENSP00000273666:p.Gly657Arg		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.G657R	ENST00000273666.6	37	c.1969	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806907	0.90623	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.72167	0.68;-0.63;-0.63;-0.05;-0.63;-0.63	5.68	5.68	0.88126	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87487	0.2424	10	0.87932	D	0	-7.1723	19.786	0.96437	0.0:0.0:1.0:0.0	.	657;657	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	657	ENSP00000273666:G657R;ENSP00000420019:G657R;ENSP00000419627:G657R;ENSP00000420287:G657R;ENSP00000420666:G657R;ENSP00000420167:G657R	ENSP00000273666:G657R	G	+	1	0	STXBP5L	122481352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.676000	0.91093	0.563000	0.77884	GGG	STXBP5L	-	superfamily_WD40_repeat_dom,prints_Lethal2_giant		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	G			120998662	+1	no_errors	ENST00000273666	ensembl	human	known	70_37	missense	SNP	1.000	C
STXBP5L	9515	genome.wustl.edu	37	3	121132054	121132054	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:121132054G>A	ENST00000273666.6	+	25	3341	c.3070G>A	c.(3070-3072)Gac>Aac	p.D1024N	STXBP5L_ENST00000471454.1_Missense_Mutation_p.D1000N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1024					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCCACTGACAGACATGAGGAT	0.393																																																	0													162.0	146.0	151.0					3																	121132054		1931	4134	6065	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3070G>A	3.37:g.121132054G>A	ENSP00000273666:p.Asp1024Asn		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.D1024N	ENST00000273666.6	37	c.3070	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743915	0.69418	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.48522	0.81;0.81;0.81	6.08	6.08	0.98989	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	L	0.49350	1.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.53878	-0.8376	10	0.23891	T	0.37	-14.554	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1000;1024	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	1024;1000;967	ENSP00000273666:D1024N;ENSP00000420019:D1000N;ENSP00000420167:D967N	ENSP00000273666:D1024N	D	+	1	0	STXBP5L	122614744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GAC	STXBP5L	-	pfam_Lgl_C		0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	G			121132054	+1	no_errors	ENST00000273666	ensembl	human	known	70_37	missense	SNP	1.000	A
STYK1	55359	genome.wustl.edu	37	12	10782274	10782274	+	Splice_Site	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:10782274C>T	ENST00000075503.3	-	6	972		c.e6-1			NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCAGCTGGTTCTGTAGAGGAC	0.517										HNSCC(73;0.22)																																							0													53.0	54.0	53.0					12																	10782274		2203	4300	6503	SO:0001630	splice_region_variant	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.452-1G>A	12.37:g.10782274C>T			B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Splice_Site	SNP	-	e4-1	ENST00000075503.3	37	c.452-1	CCDS8629.1	12	.	.	.	.	.	.	.	.	.	.	C	10.70	1.422933	0.25639	.	.	ENSG00000060140	ENST00000075503	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4122	0.87489	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STYK1	10673541	1.000000	0.71417	0.897000	0.35233	0.151000	0.21798	5.019000	0.64060	2.782000	0.95742	0.655000	0.94253	.	STYK1	-	-		0.517	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	HGNC	protein_coding	OTTHUMT00000399622.1	C	NM_018423	Intron	10782274	-1	no_errors	ENST00000075503	ensembl	human	known	70_37	splice_site	SNP	0.998	T
SYDE1	85360	genome.wustl.edu	37	19	15222450	15222450	+	Silent	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:15222450C>G	ENST00000342784.2	+	6	1456	c.1425C>G	c.(1423-1425)ctC>ctG	p.L475L	SYDE1_ENST00000600252.1_Silent_p.L132L|SYDE1_ENST00000600440.1_Silent_p.L408L	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	475	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CAGGCATCCTCAAGGATTATC	0.592																																																	0													78.0	75.0	76.0					19																	15222450		2203	4300	6503	SO:0001819	synonymous_variant	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1425C>G	19.37:g.15222450C>G			Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L475	ENST00000342784.2	37	c.1425	CCDS12324.1	19																																																																																			SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.592	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	C	NM_033025		15222450	+1	no_errors	ENST00000342784	ensembl	human	known	70_37	silent	SNP	1.000	G
SYT11	23208	genome.wustl.edu	37	1	155851228	155851228	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:155851228G>A	ENST00000368324.4	+	4	1478	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	SYT11_ENST00000539162.1_Missense_Mutation_p.E102K	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	409					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CAGTGGTGCTGAACACTGGAG	0.582																																																	0													84.0	91.0	89.0					1																	155851228		2203	4300	6503	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1225G>A	1.37:g.155851228G>A	ENSP00000357307:p.Glu409Lys		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.E409K	ENST00000368324.4	37	c.1225	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887489	0.33348	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.61392	0.94;0.11	5.27	5.27	0.74061	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.127275	0.52532	D	0.000071	T	0.30634	0.0771	N	0.21282	0.65	0.39068	D	0.960662	B	0.30326	0.276	B	0.24541	0.054	T	0.11324	-1.0592	10	0.30854	T	0.27	.	18.6819	0.91549	0.0:0.0:1.0:0.0	.	409	Q9BT88	SYT11_HUMAN	K	409;102	ENSP00000357307:E409K;ENSP00000441657:E102K	ENSP00000357307:E409K	E	+	1	0	SYT11	154117852	1.000000	0.71417	0.523000	0.27875	0.631000	0.37964	4.133000	0.57983	2.748000	0.94277	0.655000	0.94253	GAA	SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.582	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	G	NM_152280		155851228	+1	no_errors	ENST00000368324	ensembl	human	known	70_37	missense	SNP	0.773	A
SYTL2	54843	genome.wustl.edu	37	11	85435387	85435387	+	Intron	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:85435387C>T	ENST00000528231.1	-	8	1737				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.E1229K|SYTL2_ENST00000525423.1_Missense_Mutation_p.E705K|SYTL2_ENST00000354566.3_Missense_Mutation_p.E705K|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTCCCTATTTCATGAGCCACA	0.493																																																	0													94.0	90.0	91.0					11																	85435387		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3385G>A	11.37:g.85435387C>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E1229K	ENST00000528231.1	37	c.3685	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	3.128	-0.179093	0.06380	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.48201	1.35;1.36;1.36;0.82	6.17	1.99	0.26369	.	1.296190	0.04582	N	0.395187	T	0.26048	0.0635	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.021	B;B;B	0.13407	0.009;0.009;0.009	T	0.19418	-1.0306	9	.	.	.	-0.0371	5.6088	0.17394	0.0:0.5561:0.132:0.3119	.	705;705;705	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	K	1229;705;705;124	ENSP00000352065:E1229K;ENSP00000346576:E705K;ENSP00000432694:E705K;ENSP00000435009:E124K	.	E	-	1	0	SYTL2	85113035	0.544000	0.26441	0.210000	0.23637	0.118000	0.20060	0.396000	0.20867	0.427000	0.26145	0.655000	0.94253	GAA	SYTL2	-	NULL		0.493	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	C	NM_206927		85435387	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.151	T
TBC1D21	161514	genome.wustl.edu	37	15	74166104	74166104	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:74166104C>A	ENST00000300504.2	+	1	137	c.54C>A	c.(52-54)ttC>ttA	p.F18L	TBC1D21_ENST00000562056.1_Missense_Mutation_p.F18L|RP11-24D15.1_ENST00000569137.1_RNA|TBC1D21_ENST00000535547.2_Missense_Mutation_p.F18L|RP11-24D15.1_ENST00000562667.1_RNA	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	18						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGCCTCCTTCATCCTGGTGC	0.567											OREG0023267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													211.0	133.0	159.0					15																	74166104		2198	4297	6495	SO:0001583	missense	161514			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.54C>A	15.37:g.74166104C>A	ENSP00000300504:p.Phe18Leu	1150	B9A6M2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F18L	ENST00000300504.2	37	c.54	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387820	0.61956	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.12569	2.67;3.73	5.64	4.73	0.59995	.	0.000000	0.50627	D	0.000112	T	0.14917	0.0360	N	0.19112	0.55	0.38273	D	0.942202	P;P	0.49447	0.924;0.688	P;B	0.60682	0.878;0.095	T	0.09640	-1.0665	10	0.02654	T	1	-16.404	10.1574	0.42831	0.0:0.9086:0.0:0.0914	.	18;18	B9A6M2;Q8IYX1	.;TBC21_HUMAN	L	18	ENSP00000300504:F18L;ENSP00000439325:F18L	ENSP00000300504:F18L	F	+	3	2	TBC1D21	71953157	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.214000	0.32419	1.362000	0.46000	0.563000	0.77884	TTC	TBC1D21	-	NULL		0.567	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	C	NM_153356		74166104	+1	no_errors	ENST00000300504	ensembl	human	known	70_37	missense	SNP	1.000	A
TBC1D22B	55633	genome.wustl.edu	37	6	37284604	37284604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:37284604C>T	ENST00000373491.3	+	11	1437	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	431	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GGACACATATCAGGTAGGAGG	0.557																																																	0													103.0	99.0	100.0					6																	37284604		2203	4300	6503	SO:0001587	stop_gained	55633			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1291C>T	6.37:g.37284604C>T	ENSP00000362590:p.Gln431*		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q431*	ENST00000373491.3	37	c.1291	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.322495	0.98210	.	.	ENSG00000065491	ENST00000373491	.	.	.	5.87	5.87	0.94306	.	0.122372	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.996	0.92813	0.0:1.0:0.0:0.0	.	.	.	.	X	431	.	ENSP00000362590:Q431X	Q	+	1	0	TBC1D22B	37392582	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	CAG	TBC1D22B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.557	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	C	NM_017772		37284604	+1	no_errors	ENST00000373491	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TCF3	6929	genome.wustl.edu	37	19	1623966	1623966	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:1623966G>A	ENST00000262965.5	-	8	877	c.533C>T	c.(532-534)cCg>cTg	p.P178L	TCF3_ENST00000395423.3_Missense_Mutation_p.P127L|TCF3_ENST00000588136.1_Missense_Mutation_p.P178L|TCF3_ENST00000453954.2_Missense_Mutation_p.P94L|TCF3_ENST00000344749.5_Missense_Mutation_p.P178L	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAAGACCCGGCGGGACCTT	0.632			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																			Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													56.0	58.0	57.0					19																	1623966		2202	4300	6502	SO:0001583	missense	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.533C>T	19.37:g.1623966G>A	ENSP00000262965:p.Pro178Leu		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.P178L	ENST00000262965.5	37	c.533	CCDS12074.1	19	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714255	0.68730	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.62639	0.01;0.01;0.01	4.12	4.12	0.48240	.	0.000000	0.64402	D	0.000006	T	0.79969	0.4538	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.992	D	0.83710	0.0187	10	0.87932	D	0	0.8624	13.1168	0.59305	0.0:0.0:1.0:0.0	.	178;178;127	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	L	178;178;178;127	ENSP00000262965:P178L;ENSP00000344375:P178L;ENSP00000378813:P127L	ENSP00000262965:P178L	P	-	2	0	TCF3	1574966	1.000000	0.71417	0.906000	0.35671	0.639000	0.38242	7.738000	0.84966	1.853000	0.53794	0.313000	0.20887	CCG	TCF3	-	NULL		0.632	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCF3	HGNC	protein_coding	OTTHUMT00000449367.1	G	NM_003200		1623966	-1	no_errors	ENST00000262965	ensembl	human	known	70_37	missense	SNP	0.995	A
THSD7B	80731	genome.wustl.edu	37	2	138413202	138413202	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:138413202G>A	ENST00000409968.1	+	22	4255	c.4077G>A	c.(4075-4077)ctG>ctA	p.L1359L	THSD7B_ENST00000272643.3_Silent_p.L1362L|THSD7B_ENST00000413152.2_Silent_p.L1331L|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1361	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAGCATCCTGAAGCAGCTGT	0.493																																																	0													65.0	66.0	66.0					2																	138413202		2077	4214	6291	SO:0001819	synonymous_variant	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4077G>A	2.37:g.138413202G>A				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L1362	ENST00000409968.1	37	c.4086		2																																																																																			THSD7B	-	smart_Thrombospondin_1_rpt		0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		138413202	+1	no_errors	ENST00000272643	ensembl	human	known	70_37	silent	SNP	1.000	A
TIGD6	81789	genome.wustl.edu	37	5	149375702	149375702	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr5:149375702C>T	ENST00000296736.3	-	2	984	c.210G>A	c.(208-210)atG>atA	p.M70I	TIGD6_ENST00000515406.2_Missense_Mutation_p.M70I	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	70	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAGCGCTCCTCATCCTTTTCC	0.433																																																	0													118.0	119.0	119.0					5																	149375702		2203	4300	6503	SO:0001583	missense	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.210G>A	5.37:g.149375702C>T	ENSP00000296736:p.Met70Ile		B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.M70I	ENST00000296736.3	37	c.210	CCDS4301.1	5	.	.	.	.	.	.	.	.	.	.	C	7.913	0.736919	0.15574	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.13778	2.56;2.56	4.76	2.98	0.34508	Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (1);Homeodomain-like (1);	0.172702	0.27345	U	0.019784	T	0.07052	0.0179	N	0.16656	0.425	0.09310	N	0.999997	B	0.13145	0.007	B	0.15484	0.013	T	0.38607	-0.9653	10	0.17832	T	0.49	.	6.7315	0.23385	0.0:0.7153:0.0:0.2847	.	70	Q17RP2	TIGD6_HUMAN	I	70	ENSP00000296736:M70I;ENSP00000425318:M70I	ENSP00000296736:M70I	M	-	3	0	TIGD6	149355895	0.164000	0.22935	0.410000	0.26471	0.892000	0.51952	0.401000	0.20948	0.746000	0.32786	0.555000	0.69702	ATG	TIGD6	-	superfamily_Homeodomain-like		0.433	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1	C	NM_030953		149375702	-1	no_errors	ENST00000296736	ensembl	human	known	70_37	missense	SNP	0.765	T
TMEM151A	256472	genome.wustl.edu	37	11	66062524	66062524	+	Silent	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:66062524G>A	ENST00000327259.4	+	2	951	c.807G>A	c.(805-807)tcG>tcA	p.S269S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	269						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						TCCGCGAGTCGCTCATGGTCT	0.706																																																	0													17.0	14.0	15.0					11																	66062524		2174	4226	6400	SO:0001819	synonymous_variant	256472			BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.807G>A	11.37:g.66062524G>A			Q8ND14	Silent	SNP	NULL	p.S269	ENST00000327259.4	37	c.807	CCDS8133.1	11																																																																																			TMEM151A	-	NULL		0.706	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM151A	HGNC	protein_coding	OTTHUMT00000391897.1	G	NM_153266		66062524	+1	no_errors	ENST00000327259	ensembl	human	known	70_37	silent	SNP	0.104	A
TMEM45A	55076	genome.wustl.edu	37	3	100277259	100277259	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:100277259C>G	ENST00000323523.4	+	4	727	c.414C>G	c.(412-414)ttC>ttG	p.F138L	TMEM45A_ENST00000403410.1_Missense_Mutation_p.F154L	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	138						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CCTTTATCTTCTACAACCACA	0.483																																																	0													131.0	117.0	122.0					3																	100277259		2203	4300	6503	SO:0001583	missense	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.414C>G	3.37:g.100277259C>G	ENSP00000319009:p.Phe138Leu		Q53YW5	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.F138L	ENST00000323523.4	37	c.414	CCDS2937.1	3	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550320	0.65311	.	.	ENSG00000181458	ENST00000323523;ENST00000403410;ENST00000449609	T;T;T	0.54479	0.57;0.57;0.57	6.07	1.73	0.24493	.	0.131841	0.64402	N	0.000001	T	0.51126	0.1656	L	0.60845	1.875	0.49915	D	0.999838	B;P	0.42620	0.117;0.785	B;P	0.49637	0.064;0.617	T	0.39482	-0.9612	10	0.27082	T	0.32	-8.8845	5.556	0.17117	0.0:0.451:0.3285:0.2205	.	154;138	C9J9Z5;Q9NWC5	.;TM45A_HUMAN	L	138;154;154	ENSP00000319009:F138L;ENSP00000385089:F154L;ENSP00000405597:F154L	ENSP00000319009:F138L	F	+	3	2	TMEM45A	101759949	0.997000	0.39634	1.000000	0.80357	0.935000	0.57460	0.430000	0.21428	0.434000	0.26340	0.650000	0.86243	TTC	TMEM45A	-	pfam_DUF716_TMEM45		0.483	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM45A	HGNC	protein_coding	OTTHUMT00000317571.1	C	NM_018004		100277259	+1	no_errors	ENST00000323523	ensembl	human	known	70_37	missense	SNP	1.000	G
TMPRSS15	5651	genome.wustl.edu	37	21	19770616	19770616	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr21:19770616C>G	ENST00000284885.3	-	2	209	c.176G>C	c.(175-177)aGa>aCa	p.R59T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	59	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAATGTCGCTCTGGCTTCATG	0.353																																																	0													76.0	78.0	77.0					21																	19770616		2203	4300	6503	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.176G>C	21.37:g.19770616C>G	ENSP00000284885:p.Arg59Thr		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R59T	ENST00000284885.3	37	c.176	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552210	0.45487	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.37058	1.22;1.22	5.23	3.43	0.39272	SEA (3);	0.169939	0.50627	D	0.000117	T	0.26231	0.0640	L	0.39898	1.24	0.30743	N	0.74599	B	0.24092	0.097	B	0.24269	0.052	T	0.17745	-1.0359	9	.	.	.	.	7.8922	0.29684	0.0:0.8149:0.0:0.1851	.	59	P98073	ENTK_HUMAN	T	59;14	ENSP00000284885:R59T;ENSP00000398253:R14T	.	R	-	2	0	TMPRSS15	18692487	0.993000	0.37304	0.981000	0.43875	0.583000	0.36354	0.963000	0.29293	0.794000	0.33899	-0.163000	0.13421	AGA	TMPRSS15	-	pfam_SEA,smart_SEA,pfscan_SEA		0.353	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	C	NM_002772		19770616	-1	no_errors	ENST00000284885	ensembl	human	known	70_37	missense	SNP	0.994	G
TNFRSF1A	7132	genome.wustl.edu	37	12	6439073	6439073	+	Missense_Mutation	SNP	G	G	A	rs201794033		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr12:6439073G>A	ENST00000162749.2	-	9	1227	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.P267S|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	310					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCTCTGCGGGGAGCCGCAAAG	0.652																																																	0													22.0	24.0	24.0					12																	6439073		2192	4283	6475	SO:0001583	missense	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.928C>T	12.37:g.6439073G>A	ENSP00000162749:p.Pro310Ser		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A	p.P310S	ENST00000162749.2	37	c.928	CCDS8542.1	12	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638917	0.29157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.92199	-2.99;-2.99	4.5	-3.68	0.04463	.	155.122000	0.00166	N	0.000000	D	0.93350	0.7880	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.996;0.999	D;P	0.66497	0.944;0.902	T	0.83295	-0.0031	9	.	.	.	-0.4596	3.386	0.07272	0.1833:0.2108:0.4996:0.1063	.	267;310	F5H061;P19438	.;TNR1A_HUMAN	S	310;267	ENSP00000162749:P310S;ENSP00000438343:P267S	.	P	-	1	0	TNFRSF1A	6309334	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.398000	0.07259	-0.913000	0.03832	-1.267000	0.01435	CCC	TNFRSF1A	-	NULL		0.652	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	G	NM_001065		6439073	-1	no_errors	ENST00000162749	ensembl	human	known	70_37	missense	SNP	0.000	A
TPO	7173	genome.wustl.edu	37	2	1426846	1426846	+	Missense_Mutation	SNP	G	G	A	rs147325430		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:1426846G>A	ENST00000345913.4	+	3	215	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	TPO_ENST00000346956.3_Missense_Mutation_p.V42I|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Missense_Mutation_p.V42I|TPO_ENST00000337415.3_Missense_Mutation_p.V42I|TPO_ENST00000329066.4_Missense_Mutation_p.V42I|TPO_ENST00000382269.3_Missense_Mutation_p.V42I|TPO_ENST00000382201.3_Missense_Mutation_p.V42I|TPO_ENST00000382198.1_Missense_Mutation_p.V42I|TPO_ENST00000349624.3_Missense_Mutation_p.V42I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	42					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTCTCTAGCGTCTTGGAGGA	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18877	0.0		0.0	False		,,,				2504	0.0																0								G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	5,4401	8.1+/-20.4	0,5,2198	122.0	98.0	106.0		124,124,124,124,124,124	-6.0	0.0	2	dbSNP_134	106	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign,benign,benign,benign,benign	42/934,42/934,42/877,42/877,42/890,42/761	1426846	5,13001	2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.124G>A	2.37:g.1426846G>A	ENSP00000318820:p.Val42Ile		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.V42I	ENST00000345913.4	37	c.124	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	2.993	-0.207709	0.06180	0.001135	0.0	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	3.72	-6.03	0.02185	.	1.395640	0.05248	N	0.513418	T	0.28333	0.0700	N	0.02736	-0.51	0.09310	N	1	B;B;B;B;B	0.15473	0.003;0.0;0.013;0.007;0.004	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.29397	-1.0013	10	0.14656	T	0.56	-2.3701	11.1947	0.48707	0.4161:0.0:0.5839:0.0	.	42;42;42;42;42	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	42	ENSP00000371704:V42I;ENSP00000337263:V42I;ENSP00000318820:V42I;ENSP00000263886:V42I;ENSP00000332044:V42I;ENSP00000444840:V42I;ENSP00000329869:V42I;ENSP00000371636:V42I;ENSP00000390994:V42I;ENSP00000371633:V42I	ENSP00000329869:V42I	V	+	1	0	TPO	1405853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.000000	0.03693	-1.256000	0.02478	-1.740000	0.00687	GTC	TPO	-	NULL		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1426846	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.000	A
TREML3P	340206	genome.wustl.edu	37	6	41184878	41184878	+	RNA	SNP	G	G	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr6:41184878G>A	ENST00000564680.1	-	0	332									triggering receptor expressed on myeloid cells-like 3, pseudogene																		TGTTTGTTGGGAGCCAGGTGA	0.582																																																	0																																												340206			AF534825		6p21.1	2012-04-20	2012-04-20	2012-04-20	ENSG00000184106	ENSG00000184106			30806	pseudogene	pseudogene	"""TREM like transcript 3"""	609716	"""triggering receptor expressed on myeloid cells-like 3"""	TREML3		12645956	Standard	NR_027256		Approved	TLT3	uc003oqb.3		OTTHUMG00000177313		6.37:g.41184878G>A				RNA	SNP	-	NULL	ENST00000564680.1	37	NULL		6																																																																																			TREML3P	-	-		0.582	TREML3P-002	KNOWN	basic	processed_transcript	TREML3P	HGNC	pseudogene	OTTHUMT00000436224.1	G			41184878	-1	no_errors	ENST00000564680	ensembl	human	known	70_37	rna	SNP	0.000	A
TRIP12	9320	genome.wustl.edu	37	2	230678652	230678652	+	Silent	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:230678652G>T	ENST00000283943.5	-	12	1954	c.1776C>A	c.(1774-1776)atC>atA	p.I592I	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Silent_p.I640I|TRIP12_ENST00000389045.3_Silent_p.I295I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	592					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATCTGGCGTGATACTCTGGC	0.403																																																	0													73.0	67.0	69.0					2																	230678652		2203	4300	6503	SO:0001819	synonymous_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1776C>A	2.37:g.230678652G>T			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.I592	ENST00000283943.5	37	c.1776	CCDS33391.1	2																																																																																			TRIP12	-	superfamily_ARM-type_fold		0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	G	NM_004238		230678652	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	silent	SNP	1.000	T
TRNAU1AP	54952	genome.wustl.edu	37	1	28897738	28897738	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:28897738A>C	ENST00000373830.3	+	7	607	c.581A>C	c.(580-582)aAc>aCc	p.N194T		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	194	Tyr-rich.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TATAGCTACAACCAGTATTAT	0.428																																																	0													186.0	154.0	165.0					1																	28897738		2203	4300	6503	SO:0001583	missense	54952				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.581A>C	1.37:g.28897738A>C	ENSP00000362936:p.Asn194Thr		Q86SU7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N194T	ENST00000373830.3	37	c.581	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582404	0.46006	.	.	ENSG00000180098	ENST00000373830	T	0.23552	1.9	5.87	5.87	0.94306	.	0.195722	0.53938	D	0.000045	T	0.21022	0.0506	L	0.42245	1.32	0.46564	D	0.999107	B	0.30068	0.267	B	0.22386	0.039	T	0.04930	-1.0917	10	0.19590	T	0.45	.	13.6158	0.62108	1.0:0.0:0.0:0.0	.	194	Q9NX07	TSAP1_HUMAN	T	194	ENSP00000362936:N194T	ENSP00000362936:N194T	N	+	2	0	TRNAU1AP	28770325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.534000	0.45676	2.240000	0.73641	0.533000	0.62120	AAC	TRNAU1AP	-	NULL		0.428	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	A	NM_017846		28897738	+1	no_errors	ENST00000373830	ensembl	human	known	70_37	missense	SNP	1.000	C
TRMT1L	81627	genome.wustl.edu	37	1	185094133	185094133	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:185094133C>G	ENST00000367506.5	-	12	1970	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	568	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCGTACACTCTGATTCAAAG	0.373																																																	0													145.0	136.0	139.0					1																	185094133		2203	4300	6503	SO:0001583	missense	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1702G>C	1.37:g.185094133C>G	ENSP00000356476:p.Glu568Gln		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E568Q	ENST00000367506.5	37	c.1702	CCDS1366.1	1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308944	0.60305	.	.	ENSG00000121486	ENST00000367506;ENST00000458395	.	.	.	4.91	4.91	0.64330	.	0.256457	0.43919	D	0.000512	T	0.53769	0.1817	L	0.42245	1.32	0.80722	D	1	P	0.40578	0.722	B	0.39876	0.312	T	0.56643	-0.7945	9	0.42905	T	0.14	-18.3453	18.464	0.90749	0.0:1.0:0.0:0.0	.	568	Q7Z2T5	TRM1L_HUMAN	Q	568;192	.	ENSP00000356476:E568Q	E	-	1	0	TRMT1L	183360756	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.634000	0.74290	2.452000	0.82932	0.585000	0.79938	GAG	TRMT1L	-	NULL		0.373	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1L	HGNC	protein_coding	OTTHUMT00000085787.1	C	NM_030934		185094133	-1	no_errors	ENST00000367506	ensembl	human	known	70_37	missense	SNP	1.000	G
TTC16	158248	genome.wustl.edu	37	9	130493590	130493590	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr9:130493590C>G	ENST00000373289.3	+	14	2608	c.2528C>G	c.(2527-2529)tCa>tGa	p.S843*	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	843										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCATGAGCTCAACTTCCAGC	0.582																																																	0													61.0	67.0	65.0					9																	130493590		2203	4300	6503	SO:0001587	stop_gained	158248			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.2528C>G	9.37:g.130493590C>G	ENSP00000362386:p.Ser843*		B4DYG4|B5ME24|Q5JU66|Q96M72	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S843*	ENST00000373289.3	37	c.2528	CCDS6875.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.445954	0.96187	.	.	ENSG00000167094	ENST00000373289	.	.	.	3.8	-0.503	0.12000	.	1.884730	0.02636	N	0.104832	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	0.0016	2.2316	0.03998	0.3206:0.4176:0.1579:0.1039	.	.	.	.	X	843	.	ENSP00000362386:S843X	S	+	2	0	TTC16	129533411	0.000000	0.05858	0.000000	0.03702	0.437000	0.31866	0.237000	0.17985	-0.074000	0.12820	0.462000	0.41574	TCA	TTC16	-	NULL		0.582	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC16	HGNC	protein_coding	OTTHUMT00000054224.1	C	NM_144965		130493590	+1	no_errors	ENST00000373289	ensembl	human	known	70_37	nonsense	SNP	0.001	G
TTN	7273	genome.wustl.edu	37	2	179456845	179456845	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:179456845G>T	ENST00000591111.1	-	252	55087	c.54863C>A	c.(54862-54864)gCt>gAt	p.A18288D	TTN_ENST00000359218.5_Missense_Mutation_p.A10989D|TTN_ENST00000460472.2_Missense_Mutation_p.A10864D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11056D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19929D|TTN_ENST00000342992.6_Missense_Mutation_p.A17361D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18288	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGATGTAGCTGAGAGAGG	0.473																																																	0													76.0	74.0	75.0					2																	179456845		1939	4140	6079	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54863C>A	2.37:g.179456845G>T	ENSP00000465570:p.Ala18288Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A17361D	ENST00000591111.1	37	c.52082		2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534171	0.45073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45538	0.1347	N	0.20357	0.565	0.45567	D	0.998518	B;B;B;B	0.17852	0.024;0.024;0.024;0.024	B;B;B;B	0.24269	0.02;0.02;0.037;0.052	T	0.35276	-0.9795	9	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	10864;10989;11056;18288	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	17361;10864;11056;10989;10862	ENSP00000343764:A17361D;ENSP00000434586:A10864D;ENSP00000340554:A11056D;ENSP00000352154:A10989D	ENSP00000340554:A11056D	A	-	2	0	TTN	179165091	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.844000	0.86867	2.868000	0.98415	0.557000	0.71058	GCT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179456845	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179590695	179590695	+	Missense_Mutation	SNP	G	G	A	rs201586695	byFrequency	TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:179590695G>A	ENST00000591111.1	-	68	19627	c.19403C>T	c.(19402-19404)tCg>tTg	p.S6468L	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6785L|TTN_ENST00000342992.6_Missense_Mutation_p.S5541L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12070	Ig-like 46.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTTCCCGAAAGTTCACA	0.413													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19999	0.0		0.001	False		,,,				2504	0.0																0													87.0	82.0	84.0					2																	179590695		1884	4116	6000	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19403C>T	2.37:g.179590695G>A	ENSP00000465570:p.Ser6468Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S5541L	ENST00000591111.1	37	c.16622		2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715869	0.30413	.	.	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	5.87	1.73	0.24493	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56863	0.2014	L	0.49126	1.545	0.09310	N	0.999996	B	0.02656	0.0	B	0.08055	0.003	T	0.52019	-0.8631	9	0.87932	D	0	.	5.8443	0.18657	0.2733:0.0:0.605:0.1217	.	6468	Q8WZ42	TITIN_HUMAN	L	5541	ENSP00000343764:S5541L	ENSP00000343764:S5541L	S	-	2	0	TTN	179298940	0.638000	0.27225	0.337000	0.25536	0.998000	0.95712	1.671000	0.37513	0.101000	0.17610	0.655000	0.94253	TCG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179590695	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.009	A
TXNDC2	84203	genome.wustl.edu	37	18	9886830	9886830	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr18:9886830C>G	ENST00000306084.6	+	2	553	c.354C>G	c.(352-354)gaC>gaG	p.D118E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.D51E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.D51E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	118	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGAGGGTGACATCCCCAAGG	0.547																																																	0													164.0	124.0	138.0					18																	9886830		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.354C>G	18.37:g.9886830C>G	ENSP00000304908:p.Asp118Glu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.D118E	ENST00000306084.6	37	c.354	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	c	14.24	2.475305	0.43942	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.21734	1.99;2.34;2.34	3.99	-1.98	0.07480	.	1.102190	0.07202	N	0.857691	T	0.10852	0.0265	N	0.19112	0.55	0.09310	N	1	P	0.34934	0.476	B	0.32393	0.145	T	0.29150	-1.0021	9	.	.	.	-2.5794	5.2628	0.15584	0.0:0.4681:0.1402:0.3916	.	118	Q86VQ3	TXND2_HUMAN	E	51;51;118;118	ENSP00000437393:D51E;ENSP00000350419:D51E;ENSP00000304908:D118E	.	D	+	3	2	TXNDC2	9876830	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.161000	0.00577	-0.544000	0.06232	-0.478000	0.04885	GAC	TXNDC2	-	pfam_Glutenin		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886830	+1	no_errors	ENST00000306084	ensembl	human	known	70_37	missense	SNP	0.000	G
UACA	55075	genome.wustl.edu	37	15	70959510	70959510	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr15:70959510C>T	ENST00000322954.6	-	16	3698	c.3513G>A	c.(3511-3513)caG>caA	p.Q1171Q	UACA_ENST00000539319.1_Silent_p.Q1062Q|UACA_ENST00000560441.1_Silent_p.Q1156Q|UACA_ENST00000379983.2_Silent_p.Q1158Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1171					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTTCTTTAATCTGCAAATGCT	0.403																																																	0													146.0	147.0	147.0					15																	70959510		2199	4297	6496	SO:0001819	synonymous_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3513G>A	15.37:g.70959510C>T			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.Q1171	ENST00000322954.6	37	c.3513	CCDS10235.1	15																																																																																			UACA	-	NULL		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70959510	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	silent	SNP	0.509	T
UBE2I	7329	genome.wustl.edu	37	16	1370260	1370260	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:1370260G>C	ENST00000355803.4	+	5	860	c.309G>C	c.(307-309)tgG>tgC	p.W103C	UBE2I_ENST00000403747.2_Missense_Mutation_p.W103C|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000406620.1_Missense_Mutation_p.W103C|UBE2I_ENST00000566587.1_Missense_Mutation_p.W103C|UBE2I_ENST00000402301.1_Missense_Mutation_p.W103C|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000325437.5_Missense_Mutation_p.W103C|UBE2I_ENST00000397514.3_Missense_Mutation_p.W103C|UBE2I_ENST00000397515.2_Missense_Mutation_p.W103C	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	103					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.W103C(1)		breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				ACAAGGACTGGAGGCCAGCCA	0.567																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											63.0	58.0	60.0					16																	1370260		2199	4300	6499	SO:0001583	missense	7329			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.309G>C	16.37:g.1370260G>C	ENSP00000348056:p.Trp103Cys		D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.W103C	ENST00000355803.4	37	c.309	CCDS10433.1	16	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907913	0.72868	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.13	4.16	0.48862	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	H	0.99964	5.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.986	D	0.94733	0.7911	10	0.87932	D	0	-11.6047	13.3648	0.60678	0.0:0.1595:0.8405:0.0	.	103;103	B0QYN7;P63279	.;UBC9_HUMAN	C	103	ENSP00000324897:W103C;ENSP00000348056:W103C;ENSP00000380649:W103C;ENSP00000380650:W103C;ENSP00000384568:W103C;ENSP00000385009:W103C;ENSP00000384361:W103C	ENSP00000324897:W103C	W	+	3	0	UBE2I	1310261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.596000	0.98267	1.378000	0.46305	0.561000	0.74099	TGG	UBE2I	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.567	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBE2I	HGNC	protein_coding	OTTHUMT00000250317.2	G	NM_003345		1370260	+1	no_errors	ENST00000325437	ensembl	human	known	70_37	missense	SNP	1.000	C
UHRF1	29128	genome.wustl.edu	37	19	4945950	4945950	+	RNA	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:4945950C>A	ENST00000592666.1	+	0	1959							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACTCCCTAGTCCTGGCGGGGG	0.572																																																	0													22.0	28.0	26.0					19																	4945950		1967	4137	6104			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4945950C>A			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-		0.572	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	C	NM_001048201		4945950	+1	no_errors	ENST00000262952	ensembl	human	known	70_37	rna	SNP	0.545	A
URB1	9875	genome.wustl.edu	37	21	33725190	33725190	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr21:33725190C>T	ENST00000382751.3	-	19	2557	c.2442G>A	c.(2440-2442)acG>acA	p.T814T		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	814						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						TCAGCACTGCCGTCAGATATG	0.567																																																	0													142.0	144.0	144.0					21																	33725190		692	1591	2283	SO:0001819	synonymous_variant	9875			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.2442G>A	21.37:g.33725190C>T			D3DSE5|Q96NX1|Q9NYQ1	Silent	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.T814	ENST00000382751.3	37	c.2442	CCDS46645.1	21																																																																																			URB1	-	NULL		0.567	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	C			33725190	-1	no_errors	ENST00000382751	ensembl	human	known	70_37	silent	SNP	0.000	T
UROC1	131669	genome.wustl.edu	37	3	126218960	126218960	+	Nonsense_Mutation	SNP	C	C	A	rs547424830		TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr3:126218960C>A	ENST00000290868.2	-	12	1236	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	UROC1_ENST00000383579.3_Nonsense_Mutation_p.E455*	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	395					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AACTTCTCCTCGGCCAACCTG	0.622																																																	0													109.0	95.0	100.0					3																	126218960		2203	4300	6503	SO:0001587	stop_gained	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1183G>T	3.37:g.126218960C>A	ENSP00000290868:p.Glu395*		E9PE13|Q14C64|Q68CJ7	Nonsense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.E395*	ENST00000290868.2	37	c.1183	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	c	18.66	3.671115	0.67814	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	.	.	.	4.68	-9.35	0.00633	.	0.451186	0.23866	N	0.043796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-15.1375	10.4335	0.44421	0.0:0.3075:0.585:0.1075	.	.	.	.	X	395;455	.	ENSP00000290868:E395X	E	-	1	0	UROC1	127701650	0.975000	0.34042	0.067000	0.19924	0.372000	0.29890	0.507000	0.22675	-1.185000	0.02716	-1.265000	0.01443	GAG	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.622	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	C	NM_144639		126218960	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	nonsense	SNP	0.694	A
UVRAG	7405	genome.wustl.edu	37	11	75727906	75727906	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:75727906C>G	ENST00000356136.3	+	12	1349	c.1108C>G	c.(1108-1110)Ctg>Gtg	p.L370V	UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.L269V|UVRAG_ENST00000532130.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	370					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TACTGCACATCTGGTCTCCAT	0.353																																																	0													174.0	164.0	167.0					11																	75727906		2200	4293	6493	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1108C>G	11.37:g.75727906C>G	ENSP00000348455:p.Leu370Val		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L370V	ENST00000356136.3	37	c.1108	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	c	15.30	2.791563	0.50102	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.52983	0.64;0.64	4.6	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.54908	1.71	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.50389	-0.8834	10	0.36615	T	0.2	-5.9878	10.0766	0.42364	0.0:0.1615:0.0:0.8385	.	370	Q9P2Y5	UVRAG_HUMAN	V	370;269	ENSP00000348455:L370V;ENSP00000436039:L269V	ENSP00000348455:L370V	L	+	1	2	UVRAG	75405554	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.432000	0.44784	0.300000	0.22699	-1.208000	0.01637	CTG	UVRAG	-	NULL		0.353	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	C	NM_003369		75727906	+1	no_errors	ENST00000356136	ensembl	human	known	70_37	missense	SNP	1.000	G
VAV1	7409	genome.wustl.edu	37	19	6821677	6821677	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:6821677G>C	ENST00000602142.1	+	3	448	c.366G>C	c.(364-366)caG>caC	p.Q122H	VAV1_ENST00000596764.1_Missense_Mutation_p.Q122H|VAV1_ENST00000304076.2_Missense_Mutation_p.Q122H|VAV1_ENST00000539284.1_Missense_Mutation_p.Q57H|VAV1_ENST00000599806.1_Missense_Mutation_p.Q67H	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	122					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGATCGCCCAGAACAGGGGGA	0.637																																																	0													82.0	72.0	75.0					19																	6821677		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.366G>C	19.37:g.6821677G>C	ENSP00000472929:p.Gln122His		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.Q122H	ENST00000602142.1	37	c.366	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923228	0.52653	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.35236	1.32;1.32	4.34	4.34	0.51931	Calponin homology domain (2);	0.449392	0.21696	N	0.070494	T	0.49779	0.1577	L	0.49126	1.545	0.37280	D	0.90777	D;D;B;D	0.67145	0.995;0.981;0.225;0.996	P;P;B;P	0.60886	0.855;0.635;0.087;0.88	T	0.56432	-0.7980	10	0.51188	T	0.08	.	14.377	0.66884	0.0:0.0:1.0:0.0	.	57;122;67;122	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	H	122;57	ENSP00000302269:Q122H;ENSP00000443242:Q57H	ENSP00000302269:Q122H	Q	+	3	2	VAV1	6772677	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.209000	0.42806	2.256000	0.74724	0.561000	0.74099	CAG	VAV1	-	superfamily_CH-domain		0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	G			6821677	+1	no_errors	ENST00000602142	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS4B	9525	genome.wustl.edu	37	18	61058250	61058250	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr18:61058250C>A	ENST00000238497.5	-	11	1496	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	431					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TCTTTAATTTCAACAAGTCAT	0.353																																																	0													126.0	121.0	123.0					18																	61058250		2203	4300	6503	SO:0001583	missense	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1293G>T	18.37:g.61058250C>A	ENSP00000238497:p.Leu431Phe		Q69HW4|Q9GZS7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.L431F	ENST00000238497.5	37	c.1293	CCDS11983.1	18	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602057	0.46423	.	.	ENSG00000119541	ENST00000238497	D	0.94828	-3.53	5.78	2.03	0.26663	Vps4 oligomerisation, C-terminal (1);	0.446678	0.23302	N	0.049676	D	0.90669	0.7073	L	0.42245	1.32	0.80722	D	1	B	0.27853	0.191	B	0.31245	0.126	D	0.87556	0.2468	10	0.66056	D	0.02	-11.0558	9.132	0.36850	0.0:0.603:0.0:0.397	.	431	O75351	VPS4B_HUMAN	F	431	ENSP00000238497:L431F	ENSP00000238497:L431F	L	-	3	2	VPS4B	59209230	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.315000	0.19451	0.801000	0.34066	0.655000	0.94253	TTG	VPS4B	-	pfam_Vps4_C		0.353	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	C	NM_004869		61058250	-1	no_errors	ENST00000238497	ensembl	human	known	70_37	missense	SNP	0.999	A
VWA3A	146177	genome.wustl.edu	37	16	22157643	22157643	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr16:22157643G>C	ENST00000389398.5	+	27	2913	c.2817G>C	c.(2815-2817)caG>caC	p.Q939H	VWA3A_ENST00000389397.4_Missense_Mutation_p.Q17H|VWA3A_ENST00000563755.1_Missense_Mutation_p.Q17H	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	939						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCTATGTCCAGAGGCTGCAGT	0.602																																																	0													75.0	79.0	78.0					16																	22157643		2126	4234	6360	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2817G>C	16.37:g.22157643G>C	ENSP00000374049:p.Gln939His		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q939H	ENST00000389398.5	37	c.2817	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420878	0.62622	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.43688	2.59;0.94	5.11	2.02	0.26589	.	0.272698	0.30890	N	0.008663	T	0.53449	0.1797	M	0.63428	1.95	0.37344	D	0.910519	B;D	0.62365	0.058;0.991	B;P	0.61201	0.04;0.885	T	0.59925	-0.7362	10	0.62326	D	0.03	.	9.5938	0.39563	0.2529:0.0:0.7471:0.0	.	939;17	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	H	939;17;562	ENSP00000374049:Q939H;ENSP00000374048:Q17H	ENSP00000299840:Q562H	Q	+	3	2	VWA3A	22065144	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	1.384000	0.34396	0.645000	0.30675	0.655000	0.94253	CAG	VWA3A	-	NULL		0.602	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	G			22157643	+1	no_errors	ENST00000389398	ensembl	human	known	70_37	missense	SNP	0.998	C
WDFY3	23001	genome.wustl.edu	37	4	85605214	85605214	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr4:85605214A>G	ENST00000295888.4	-	63	10015	c.9608T>C	c.(9607-9609)gTg>gCg	p.V3203A	WDFY3_ENST00000322366.6_Missense_Mutation_p.V3186A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3203	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTGACACTCACGATAGGGTT	0.507																																																	0													126.0	106.0	112.0					4																	85605214		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9608T>C	4.37:g.85605214A>G	ENSP00000295888:p.Val3203Ala		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V3203A	ENST00000295888.4	37	c.9608	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	A	3.834	-0.035236	0.07543	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.27402	1.67;1.67	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.309084	0.35739	N	0.003016	T	0.06645	0.0170	N	0.00179	-1.91	0.36923	D	0.891473	B	0.02656	0.0	B	0.01281	0.0	T	0.31861	-0.9928	10	0.02654	T	1	.	10.8755	0.46909	0.9216:0.0:0.0784:0.0	.	3203	Q8IZQ1	WDFY3_HUMAN	A	3186;3203	ENSP00000318466:V3186A;ENSP00000295888:V3203A	ENSP00000295888:V3203A	V	-	2	0	WDFY3	85824238	1.000000	0.71417	0.990000	0.47175	0.558000	0.35554	4.561000	0.60809	2.244000	0.73946	0.528000	0.53228	GTG	WDFY3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.507	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	A	NM_014991		85605214	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	G
WFIKKN2	124857	genome.wustl.edu	37	17	48916923	48916923	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:48916923C>T	ENST00000311378.4	+	2	802	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_5'UTR	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	92	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGTGGCGGCCCGCTACATGGA	0.577																																																	0													48.0	49.0	48.0					17																	48916923		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.274C>T	17.37:g.48916923C>T	ENSP00000311184:p.Arg92Cys		Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.R92C	ENST00000311378.4	37	c.274	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551523	0.86127	.	.	ENSG00000173714	ENST00000311378	D	0.84298	-1.83	5.53	5.53	0.82687	Whey acidic protein, 4-disulphide core (3);	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92682	0.6159	10	0.87932	D	0	.	19.4998	0.95089	0.0:1.0:0.0:0.0	.	92	Q8TEU8	WFKN2_HUMAN	C	92	ENSP00000311184:R92C	ENSP00000311184:R92C	R	+	1	0	WFIKKN2	46271922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.741000	0.62095	2.593000	0.87608	0.645000	0.84053	CGC	WFIKKN2	-	superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core		0.577	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	C	NM_175575		48916923	+1	no_errors	ENST00000311378	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR45B	56270	genome.wustl.edu	37	17	80573806	80573806	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr17:80573806C>T	ENST00000392325.4	-	10	1218	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	WDR45B_ENST00000571835.1_5'Flank	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	342																	CACAGCTTGTCATCGGTCATC	0.617																																																	0													94.0	84.0	88.0					17																	80573806		2203	4300	6503	SO:0001583	missense	56270			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.1024G>A	17.37:g.80573806C>T	ENSP00000376139:p.Asp342Asn		O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D342N	ENST00000392325.4	37	c.1024	CCDS11815.2	17	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454973	0.63290	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.78595	-1.19	4.74	4.74	0.60224	.	0.049717	0.85682	D	0.000000	T	0.74558	0.3732	L	0.52126	1.63	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.71553	-0.4558	10	0.45353	T	0.12	-32.9382	18.0853	0.89455	0.0:1.0:0.0:0.0	.	342	Q5MNZ6	WIPI3_HUMAN	N	342;314	ENSP00000376139:D342N	ENSP00000376139:D342N	D	-	1	0	WDR45L	78167095	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	7.290000	0.78711	2.329000	0.79093	0.561000	0.74099	GAC	WDR45L	-	NULL		0.617	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR45L	HGNC	protein_coding	OTTHUMT00000316536.1	C	NM_019613		80573806	-1	no_errors	ENST00000392325	ensembl	human	known	70_37	missense	SNP	1.000	T
WNT11	7481	genome.wustl.edu	37	11	75905741	75905741	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr11:75905741C>T	ENST00000322563.3	-	3	591	c.467G>A	c.(466-468)gGa>gAa	p.G156E	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	156				G -> R (in Ref. 1; CAA74159/CAA73223). {ECO:0000305}.	adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GTCCGCACATCCTCCCCAGCG	0.647																																																	0													40.0	34.0	36.0					11																	75905741		1885	3703	5588	SO:0001583	missense	7481			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.467G>A	11.37:g.75905741C>T	ENSP00000325526:p.Gly156Glu		B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.G156E	ENST00000322563.3	37	c.467	CCDS8242.1	11	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006065	0.93287	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	D	0.83419	-1.72	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.93174	0.7826	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94870	0.8029	10	0.87932	D	0	.	17.1651	0.86814	0.0:1.0:0.0:0.0	.	156	O96014	WNT11_HUMAN	E	156	ENSP00000325526:G156E	ENSP00000325526:G156E	G	-	2	0	WNT11	75583389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.287000	0.76781	0.555000	0.69702	GGA	WNT11	-	pfam_Wnt,smart_Wnt,prints_Wnt		0.647	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT11	HGNC	protein_coding	OTTHUMT00000383083.1	C	NM_004626		75905741	-1	no_errors	ENST00000322563	ensembl	human	known	70_37	missense	SNP	1.000	T
TSIX	9383	genome.wustl.edu	37	X	73045954	73045954	+	lincRNA	SNP	G	G	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chrX:73045954G>T	ENST00000604411.1	+	0	33915				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCTCACCTAAGCTCAAAGAAG	0.498																																																	0													124.0	113.0	117.0					X																	73045954		876	1991	2867			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045954G>T				RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.498	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	G	NR_003255		73045954	-1	no_errors	ENST00000416330	ensembl	human	known	70_37	rna	SNP	0.312	T
ZNF273	10793	genome.wustl.edu	37	7	64349231	64349231	+	Intron	SNP	C	C	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr7:64349231C>G	ENST00000527278.1	+	2	293				RP11-797H7.5_ENST00000340779.3_RNA			Q14593	ZN273_HUMAN	zinc finger protein 273						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CAAAGTTGCTCAAGCCATGTT	0.562																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0																																										SO:0001627	intron_variant	10793			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000527278.1:c.294-4559C>G	7.37:g.64349231C>G			B3KQZ5|Q6P3V4	RNA	SNP	-	NULL	ENST00000527278.1	37	NULL		7																																																																																			ZNF273	-	-		0.562	ZNF273-002	KNOWN	basic	processed_transcript	ZNF273	HGNC	protein_coding	OTTHUMT00000313503.2	C			64349231	+1	no_errors	ENST00000471926	ensembl	human	putative	70_37	rna	SNP	0.008	G
ZNF557	79230	genome.wustl.edu	37	19	7081464	7081464	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:7081464C>T	ENST00000439035.2	+	6	560	c.320C>T	c.(319-321)cCa>cTa	p.P107L	ZNF557_ENST00000414706.1_Missense_Mutation_p.P114L|ZNF557_ENST00000252840.6_Missense_Mutation_p.P114L			Q8N988	ZN557_HUMAN	zinc finger protein 557	107	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGTACCTGTCCAGGTGAGCAC	0.458																																																	0													54.0	56.0	55.0					19																	7081464		2199	4300	6499	SO:0001583	missense	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.320C>T	19.37:g.7081464C>T	ENSP00000398965:p.Pro107Leu		Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P114L	ENST00000439035.2	37	c.341	CCDS45945.1	19	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029694	0.19512	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.08370	3.11;3.11;3.1	1.05	1.05	0.20165	Krueppel-associated box (1);	.	.	.	.	T	0.05547	0.0146	L	0.38692	1.165	0.32901	D	0.51317	B;P	0.34934	0.049;0.476	B;B	0.30495	0.003;0.116	T	0.31251	-0.9950	9	0.25751	T	0.34	.	5.4596	0.16610	0.0:1.0:0.0:0.0	.	107;114	Q8N988;Q8N988-2	ZN557_HUMAN;.	L	114;114;107	ENSP00000252840:P114L;ENSP00000404065:P114L;ENSP00000398965:P107L	ENSP00000252840:P114L	P	+	2	0	ZNF557	7032464	0.668000	0.27493	0.621000	0.29145	0.137000	0.21094	0.827000	0.27421	0.877000	0.35895	0.305000	0.20034	CCA	ZNF557	-	pfscan_Krueppel-associated_box		0.458	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF557	HGNC	protein_coding	OTTHUMT00000458502.1	C	NM_024341		7081464	+1	no_errors	ENST00000252840	ensembl	human	known	70_37	missense	SNP	0.652	T
ZNF324B	388569	genome.wustl.edu	37	19	58967304	58967304	+	Silent	SNP	C	C	T			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:58967304C>T	ENST00000336614.4	+	4	1100	c.993C>T	c.(991-993)caC>caT	p.H331H	ZNF324B_ENST00000391696.1_Silent_p.H321H|ZNF324B_ENST00000545523.1_Silent_p.H331H	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	331					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(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGGTGCGGCACCAGCGCATCC	0.687																																																	0													5.0	6.0	5.0					19																	58967304		2075	4005	6080	SO:0001819	synonymous_variant	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.993C>T	19.37:g.58967304C>T			B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H331	ENST00000336614.4	37	c.993	CCDS33138.1	19																																																																																			ZNF324B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.687	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	HGNC	protein_coding	OTTHUMT00000467038.1	C	NM_207395		58967304	+1	no_errors	ENST00000336614	ensembl	human	known	70_37	silent	SNP	0.998	T
ZNF638	27332	genome.wustl.edu	37	2	71650144	71650144	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr2:71650144T>C	ENST00000409544.1	+	22	4130	c.3500T>C	c.(3499-3501)cTt>cCt	p.L1167P	ZNF638_ENST00000409407.1_Missense_Mutation_p.L107P|ZNF638_ENST00000264447.4_Missense_Mutation_p.L1167P|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1167	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACTTTGGAGCTTGAAACTCAA	0.418																																																	0													95.0	94.0	94.0					2																	71650144		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3500T>C	2.37:g.71650144T>C	ENSP00000386433:p.Leu1167Pro		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.L1167P	ENST00000409544.1	37	c.3500	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750783	0.31046	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.34275	1.37;1.37;1.63	5.69	4.51	0.55191	.	0.922495	0.09082	N	0.851236	T	0.22898	0.0553	N	0.14661	0.345	0.80722	D	1	P;P;B	0.39624	0.681;0.504;0.371	B;B;B	0.37650	0.255;0.241;0.121	T	0.01232	-1.1411	10	0.22706	T	0.39	-0.0627	9.1857	0.37170	0.1617:0.0:0.0:0.8383	.	1167;1167;1167	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	P	746;1167;1167;107;107	ENSP00000264447:L1167P;ENSP00000386433:L1167P;ENSP00000386813:L107P	ENSP00000264447:L1167P	L	+	2	0	ZNF638	71503652	0.973000	0.33851	0.985000	0.45067	0.145000	0.21501	1.999000	0.40806	1.045000	0.40225	0.533000	0.62120	CTT	ZNF638	-	NULL		0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	T	NM_014497		71650144	+1	no_errors	ENST00000264447	ensembl	human	known	70_37	missense	SNP	0.991	C
ZNF816	125893	genome.wustl.edu	37	19	53454323	53454323	+	Silent	SNP	G	G	C			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr19:53454323G>C	ENST00000357666.4	-	5	1005	c.705C>G	c.(703-705)ggC>ggG	p.G235G	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.G235G|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TAAAGGCTTTGCCACACTCAT	0.348																																																	0													92.0	94.0	93.0					19																	53454323		2203	4300	6503	SO:0001819	synonymous_variant	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.705C>G	19.37:g.53454323G>C			A8K7H5|Q3KR39|Q659B3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G235	ENST00000357666.4	37	c.705	CCDS33096.1	19																																																																																			ZNF816	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	G	NM_001031665		53454323	-1	no_errors	ENST00000357666	ensembl	human	known	70_37	silent	SNP	0.991	C
ZYG11A	440590	genome.wustl.edu	37	1	53326437	53326437	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2LX-01A-11D-A18J-09	TCGA-C5-A2LX-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c64056-82a4-41ae-bb30-0aa3e47d9040	70f7d57a-4b25-4f5b-8e29-115dda15aaf8	g.chr1:53326437A>G	ENST00000371528.1	+	4	1191	c.1043A>G	c.(1042-1044)gAa>gGa	p.E348G	ZYG11A_ENST00000371532.1_Missense_Mutation_p.E6G	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	348										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						CAGATTTCAGAAGCACTGAGC	0.413																																																	0													117.0	102.0	106.0					1																	53326437		692	1591	2283	SO:0001583	missense	440590				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.1043A>G	1.37:g.53326437A>G	ENSP00000360583:p.Glu348Gly		A6NCK5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E348G	ENST00000371528.1	37	c.1043	CCDS44148.1	1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661938	0.88251	.	.	ENSG00000203995	ENST00000371532;ENST00000371528	T;T	0.07908	3.15;3.15	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	M	0.76574	2.34	0.53688	D	0.999979	D	0.76494	0.999	D	0.75484	0.986	T	0.01349	-1.1378	10	0.41790	T	0.15	-16.3367	14.6621	0.68879	1.0:0.0:0.0:0.0	.	348	Q6WRX3	ZY11A_HUMAN	G	6;348	ENSP00000360587:E6G;ENSP00000360583:E348G	ENSP00000360583:E348G	E	+	2	0	ZYG11A	53099025	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.633000	0.83260	2.052000	0.61016	0.459000	0.35465	GAA	ZYG11A	-	NULL		0.413	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	HGNC	protein_coding	OTTHUMT00000024856.3	A	NM_001004339		53326437	+1	no_errors	ENST00000371528	ensembl	human	known	70_37	missense	SNP	1.000	G
