#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
PDCD6	10016	genome.wustl.edu	37	5	290335	290335	+	Intron	SNP	T	T	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:290335T>G	ENST00000264933.4	+	3	263				PDCD6_ENST00000505221.1_Intron|PDCD6_ENST00000507528.1_Intron	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GTTTCTCCAGTCTTGGCTATA	0.428																																																0			5																																								343335	SO:0001627	intron_variant	0			AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"""EF-hand domain containing"""	8765	protein-coding gene	gene with protein product	"""apoptosis-linked gene-2"""	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.164-13957T>G	5.37:g.290335T>G			343335	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	RNA	SNP	-	NULL	ENST00000264933.4	37	NULL	CCDS3854.1	5																																																																																			-	-		0.428	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100129064	protein_coding	OTTHUMT00000206609.2	T	NM_013232		343335	-1	pseudogene	XR_038303	genbank	human	model	54_36p	rna	SNP	1.000	G
SLC12A7	10723	genome.wustl.edu	37	5	1089099	1089099	+	Missense_Mutation	SNP	A	A	G	rs148794067	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:1089099A>G	ENST00000264930.5	-	4	530	c.487T>C	c.(487-489)Tgt>Cgt	p.C163R		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	163					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGACTCACACATGTGCAGCAC	0.652																																																0			5						A	ARG/CYS	0,4406		0,0,2203	154.0	132.0	140.0		487	3.6	1.0	5	dbSNP_134	140	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SLC12A7	NM_006598.2	180	0,6,6497	GG,GA,AA		0.0698,0.0,0.0461	probably-damaging	163/1084	1089099	6,13000	2203	4300	6503	1142099	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.487T>C	5.37:g.1089099A>G	ENSP00000264930:p.Cys163Arg		1142099	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	HMMPfam_AA_permease	p.C163R	ENST00000264930.5	37	c.487	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658240	0.47467	0.0	6.98E-4	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.98747	-5.11	3.59	3.59	0.41128	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	M	0.91249	3.19	0.80722	D	1	P	0.51240	0.943	P	0.57846	0.828	D	0.99414	1.0931	10	0.87932	D	0	.	11.2973	0.49286	1.0:0.0:0.0:0.0	.	163	Q9Y666	S12A7_HUMAN	R	163	ENSP00000264930:C163R	ENSP00000264930:C163R	C	-	1	0	SLC12A7	1142099	1.000000	0.71417	0.987000	0.45799	0.716000	0.41182	4.085000	0.57657	1.413000	0.46997	0.448000	0.29417	TGT	-	HMMPfam_AA_permease		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	protein_coding	OTTHUMT00000366446.2	A	NM_006598		1142099	-1	no_errors	NM_006598	genbank	human	validated	54_36p	missense	SNP	0.998	G
WDR37	22884	genome.wustl.edu	37	10	1170849	1170849	+	Splice_Site	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr10:1170849G>A	ENST00000358220.1	+	13	1382		c.e13-1		WDR37_ENST00000263150.4_Splice_Site|WDR37_ENST00000482165.1_Splice_Site			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37											breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTTCTTTGCAGGATCAATGTA	0.453																																																0			10											110.0	90.0	96.0					10																	1170849		2203	4300	6503	1160849	SO:0001630	splice_region_variant	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1239-1G>A	10.37:g.1170849G>A			1160849	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Splice_Site	SNP	-	e12-1	ENST00000358220.1	37	c.1239-1	CCDS7057.1	10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387474	0.82902	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1955	0.93686	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR37	1160849	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.424000	0.97464	2.526000	0.85167	0.591000	0.81541	.	-	-		0.453	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	protein_coding	OTTHUMT00000046418.1	G	NM_014023	Intron	1160849	+1	no_errors	NM_014023	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
CREBBP	1387	genome.wustl.edu	37	16	3860721	3860721	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr16:3860721C>A	ENST00000262367.5	-	3	1667	c.858G>T	c.(856-858)caG>caT	p.Q286H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q286H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	286	Interaction with SRCAP.				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)			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)		CTCCCATTGGCTGCCCTCCAG	0.488			"""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	0			16											119.0	112.0	114.0					16																	3860721		2197	4300	6497	3800722	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.858G>T	16.37:g.3860721C>A	ENSP00000262367:p.Gln286His		3800722	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	superfamily_TAZ_finger,HMMPfam_zf-TAZ,HMMSmart_ZnF_TAZ,HMMPfam_KIX,superfamily_KIX,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_DUF902,HMMPfam_DUF906,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_Creb_binding,superfamily_Nuc_recept_coact	p.Q286H	ENST00000262367.5	37	c.858	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589720	0.46214	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84589	-1.87;-1.87	5.28	4.23	0.50019	.	0.000000	0.64402	D	0.000003	D	0.90304	0.6967	M	0.66297	2.02	0.50632	D	0.999882	D;D	0.89917	0.999;1.0	D;D	0.77557	0.987;0.99	D	0.90467	0.4450	10	0.59425	D	0.04	-7.7447	12.4292	0.55565	0.0:0.8869:0.0:0.1131	.	354;286	Q4LE28;Q92793	.;CBP_HUMAN	H	286;354;286	ENSP00000262367:Q286H;ENSP00000371502:Q286H	ENSP00000262367:Q286H	Q	-	3	2	CREBBP	3800722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.225000	0.32551	2.462000	0.83206	0.563000	0.77884	CAG	-	NULL		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3800722	-1	no_errors	NM_004380	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR52A5	390054	genome.wustl.edu	37	11	5152972	5152972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr11:5152972G>A	ENST00000307388.1	-	1	900	c.901C>T	c.(901-903)Caa>Taa	p.Q301*		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	301					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCACGAATTTGCTTGGTCTTC	0.363																																																0			11											120.0	115.0	117.0					11																	5152972		2201	4298	6499	5109548	SO:0001587	stop_gained	390054			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.901C>T	11.37:g.5152972G>A	ENSP00000303469:p.Gln301*		5109548		Nonsense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.Q301*	ENST00000307388.1	37	c.901	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808682	0.50421	.	.	ENSG00000171944	ENST00000307388	.	.	.	4.6	1.42	0.22433	.	0.353982	0.20746	N	0.086445	.	.	.	.	.	.	0.53005	D	0.999961	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.8859	0.41262	0.0:0.381:0.493:0.126	.	.	.	.	X	301	.	ENSP00000303469:Q301X	Q	-	1	0	OR52A5	5109548	0.136000	0.22515	0.997000	0.53966	0.610000	0.37248	0.520000	0.22878	0.519000	0.28406	0.655000	0.94253	CAA	-	superfamily_SSF81321		0.363	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	protein_coding	OTTHUMT00000142823.1	G	NM_001005160		5109548	-1	no_errors	NM_001005160	genbank	human	provisional	54_36p	nonsense	SNP	0.916	A
Unknown	0	genome.wustl.edu	37	5	7301425	7301425	+	IGR	SNP	G	G	A	rs78872020	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:7301425G>A								RP11-122F24.1 (110500 upstream) : RP11-404K5.4 (24751 downstream)																							tttcgcatccgctactcctgc	0.647													-|||	2926	0.584265	0.5393	0.611	5008	,	,		14826	0.8323		0.4225	False		,,,				2504	0.5368															0			5																																								7354425	SO:0001628	intergenic_variant	442132																															5.37:g.7301425G>A			7354425		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.647					LOC442132			G			7354425	-1	no_errors	XR_040018	genbank	human	model	54_36p	rna	SNP	0.000	A
TP53	7157	genome.wustl.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	rs138729528		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr17:7578407G>C	ENST00000269305.4	-	5	712	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000420246.2_Missense_Mutation_p.R175G|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGGGGCAGCGCCTCACAACC	0.657		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(1)	17	GRCh37	CM011013	TP53	M	rs138729528						50.0	50.0	50.0					17																	7578407		2203	4300	6503	7519132	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.523C>G	17.37:g.7578407G>C	ENSP00000269305:p.Arg175Gly		7519132	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R175G	ENST00000269305.4	37	c.523	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570086	0.65765	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99862	0.9935	M	0.92784	3.345	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.987;1.0;0.999;0.992;0.975;1.0	D	0.98196	1.0465	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175G;ENSP00000352610:R175G;ENSP00000269305:R175G;ENSP00000398846:R175G;ENSP00000391127:R175G;ENSP00000391478:R175G;ENSP00000425104:R43G;ENSP00000423862:R82G	ENSP00000269305:R175G	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519132	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.993	C
DENND5A	23258	genome.wustl.edu	37	11	9191492	9191492	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr11:9191492T>A	ENST00000328194.3	-	10	2382	c.2062A>T	c.(2062-2064)Acg>Tcg	p.T688S	DENND5A_ENST00000527700.1_Missense_Mutation_p.T31S|DENND5A_ENST00000530044.1_Missense_Mutation_p.T688S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	688					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCTTTTCGTCCACCTAACA	0.448																																																0			11											217.0	188.0	198.0					11																	9191492		2201	4296	6497	9148068	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2062A>T	11.37:g.9191492T>A	ENSP00000328524:p.Thr688Ser		9148068	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT	p.T688S	ENST00000328194.3	37	c.2062	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548222	0.27652	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.16457	3.87;3.87;2.34	5.27	5.27	0.74061	.	0.102307	0.64402	D	0.000002	T	0.07908	0.0198	N	0.02539	-0.55	0.43036	D	0.994619	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.31110	-0.9955	10	0.20046	T	0.44	.	15.1926	0.73057	0.0:0.0:0.0:1.0	.	688;688	E9PS91;Q6IQ26	.;DEN5A_HUMAN	S	688;688;31	ENSP00000328524:T688S;ENSP00000435866:T688S;ENSP00000432549:T31S	ENSP00000328524:T688S	T	-	1	0	DENND5A	9148068	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.382000	0.52463	1.991000	0.58162	0.533000	0.62120	ACG	-	NULL		0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	protein_coding	OTTHUMT00000385910.2	T	NM_015213		9148068	-1	no_errors	NM_015213	genbank	human	validated	54_36p	missense	SNP	1.000	A
CAP2	10486	genome.wustl.edu	37	6	17426858	17426858	+	Missense_Mutation	SNP	G	G	A	rs200233388		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:17426858G>A	ENST00000229922.2	+	3	691	c.159G>A	c.(157-159)atG>atA	p.M53I	CAP2_ENST00000493172.1_Missense_Mutation_p.M53I|CAP2_ENST00000465994.1_Missense_Mutation_p.M53I|CAP2_ENST00000378990.2_Missense_Mutation_p.M53I|CAP2_ENST00000489374.1_Missense_Mutation_p.M53I	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	53					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAAGCTGATGGACAGTATGG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18547	0.001		0.0	False		,,,				2504	0.0															0			6											119.0	107.0	111.0					6																	17426858		2203	4300	6503	17534837	SO:0001583	missense	10486			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.159G>A	6.37:g.17426858G>A	ENSP00000229922:p.Met53Ile		17534837	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	HMMPfam_CAP_N,PatternScan_CAP_1,superfamily_N-terminal domain of adenylylcyclase associated protein CAP,PatternScan_ADH_IRON_2,superfamily_C-terminal domain of adenylylcyclase associated protein,HMMPfam_CAP_C,HMMSmart_SM00673,PatternScan_CAP_2	p.M53I	ENST00000229922.2	37	c.159	CCDS4539.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.66	2.302865	0.40795	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.25414	1.8;1.8;1.8;2.9;1.8	5.57	4.7	0.59300	Adenylate cyclase-associated CAP, N-terminal (2);	0.221383	0.49305	N	0.000155	T	0.03564	0.0102	N	0.02775	-0.495	0.24112	N	0.995838	B;B;B;B;B	0.21225	0.0;0.053;0.0;0.0;0.0	B;B;B;B;B	0.27076	0.002;0.076;0.002;0.002;0.007	T	0.42032	-0.9475	10	0.13853	T	0.58	-14.4187	11.3449	0.49554	0.0851:0.0:0.9149:0.0	.	53;53;53;53;53	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	I	53	ENSP00000229922:M53I;ENSP00000417705:M53I;ENSP00000368275:M53I;ENSP00000417208:M53I;ENSP00000418604:M53I	ENSP00000229922:M53I	M	+	3	0	CAP2	17534837	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	2.337000	0.43947	1.355000	0.45865	0.591000	0.81541	ATG	-	HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP		0.517	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAP2	protein_coding	OTTHUMT00000039952.2	G			17534837	+1	no_errors	NM_006366	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	15	20093017	20093017	+	IGR	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:20093017G>A								RNU6-978P (4048 upstream) : IGHV1OR15-9 (76901 downstream)																							CTGCACCCTTGGTGGAAAGAA	0.423																																																0			15																																								18353031	SO:0001628	intergenic_variant	729722																															15.37:g.20093017G>A			18353031		Silent	SNP	HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,PatternScan_ASP_PROTEASE	p.L175		37	c.525		15																																																																																			-	NULL	0	0.423					LOC729722			G			18353031	+1	no_errors	XM_001716538	genbank	human	model	54_36p	silent	SNP	0.000	A
RP11-405A12.2	0	genome.wustl.edu	37	12	20095181	20095181	+	lincRNA	SNP	G	G	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:20095181G>T	ENST00000535764.1	+	0	212																											TGGAATTGATGATATGTGTCT	0.418																																																0			12																																								19986448			400013																															12.37:g.20095181G>T			19986448		RNA	SNP	-	NULL	ENST00000535764.1	37	NULL		12																																																																																			-	-		0.418	RP11-405A12.2-001	KNOWN	basic	lincRNA	LOC400013	lincRNA	OTTHUMT00000401672.1	G			19986448	+1	pseudogene	XR_017001	genbank	human	model	54_36p	rna	SNP	1.000	T
RP11-405A12.2	0	genome.wustl.edu	37	12	20095786	20095786	+	lincRNA	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:20095786G>C	ENST00000535764.1	+	0	212																											AAACAAGCAGGGATGTTTGAA	0.363																																																0			12																																								19987053			400013																															12.37:g.20095786G>C			19987053		RNA	SNP	-	NULL	ENST00000535764.1	37	NULL		12																																																																																			-	-		0.363	RP11-405A12.2-001	KNOWN	basic	lincRNA	LOC400013	lincRNA	OTTHUMT00000401672.1	G			19987053	+1	pseudogene	XR_017001	genbank	human	model	54_36p	rna	SNP	1.000	C
NDN	4692	genome.wustl.edu	37	15	23932143	23932143	+	Silent	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:23932143C>T	ENST00000331837.4	-	1	307	c.222G>A	c.(220-222)gcG>gcA	p.A74A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	74					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCCCTCCTCCGCAGCCTGCT	0.786									Prader-Willi syndrome																																							0			15											3.0	3.0	3.0					15																	23932143		1282	2698	3980	21483236	SO:0001819	synonymous_variant	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.222G>A	15.37:g.23932143C>T			21483236	B2R6Z5	Silent	SNP	HMMPfam_MAGE	p.A74	ENST00000331837.4	37	c.222	CCDS10014.1	15																																																																																			-	NULL		0.786	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	protein_coding	OTTHUMT00000251226.2	C	NM_002487		21483236	-1	no_errors	NM_002487	genbank	human	reviewed	54_36p	silent	SNP	0.958	T
SLC7A8	23428	genome.wustl.edu	37	14	23607130	23607130	+	Splice_Site	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr14:23607130C>T	ENST00000316902.7	-	7	1741	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	SLC7A8_ENST00000422941.2_Splice_Site_p.R115Q|SLC7A8_ENST00000529705.2_Splice_Site_p.R234Q|SLC7A8_ENST00000532568.1_5'Flank|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Splice_Site_p.R136Q	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	339					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAGCACTCACCGAGAGGAGGT	0.557																																																0			14											98.0	98.0	98.0					14																	23607130		2203	4300	6503	22676970	SO:0001630	splice_region_variant	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1016+1G>A	14.37:g.23607130C>T			22676970	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	HMMPfam_AA_permease	p.R339Q	ENST00000316902.7	37	c.1016	CCDS9590.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.730598	0.96856	.	.	ENSG00000092068	ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.44	5.44	0.79542	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74674	0.983;0.984;0.977	D	0.99316	1.0905	9	.	.	.	.	18.4153	0.90567	0.0:1.0:0.0:0.0	.	234;115;339	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	Q	339;136;234;115;136	ENSP00000320378:R339Q;ENSP00000391577:R136Q;ENSP00000434345:R234Q;ENSP00000416398:R115Q	.	R	-	2	0	SLC7A8	22676970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.553000	0.82203	2.724000	0.93272	0.563000	0.77884	CGG	-	HMMPfam_AA_permease		0.557	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A8	protein_coding	OTTHUMT00000071718.3	C		Missense_Mutation	22676970	-1	no_errors	NM_012244	genbank	human	validated	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	5	24171419	24171419	+	IGR	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:24171419C>A								Y_RNA (176707 upstream) : CTD-2074D8.1 (180998 downstream)																							TTCAAGCTGACCAATGGCAGA	0.453																																																0			5																																								24207176	SO:0001628	intergenic_variant	0																															5.37:g.24171419C>A			24207176		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.453					LOC100130746			C			24207176	+1	pseudogene	XR_038810	genbank	human	model	54_36p	rna	SNP	0.231	A
MASTL	84930	genome.wustl.edu	37	10	27459095	27459095	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr10:27459095G>C	ENST00000375940.4	+	8	1264	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.E403Q|MASTL_ENST00000342386.6_Missense_Mutation_p.E403Q			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGCAGTAGAACTGGATGT	0.433																																																0			10											85.0	88.0	87.0					10																	27459095		2203	4300	6503	27499101	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1207G>C	10.37:g.27459095G>C	ENSP00000365107:p.Glu403Gln		27499101	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X	p.E403Q	ENST00000375940.4	37	c.1207	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790842	0.31685	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.78246	-1.16;-1.16;-1.16	5.92	4.09	0.47781	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.413896	0.27881	N	0.017466	T	0.72630	0.3484	L	0.60455	1.87	0.22081	N	0.999376	P;P;P	0.46512	0.879;0.808;0.813	B;B;B	0.43103	0.408;0.231;0.312	T	0.64976	-0.6280	10	0.46703	T	0.11	-11.024	7.4995	0.27509	0.2974:0.0:0.7026:0.0	.	403;403;403	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	Q	403	ENSP00000365113:E403Q;ENSP00000343446:E403Q;ENSP00000365107:E403Q	ENSP00000343446:E403Q	E	+	1	0	MASTL	27499101	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	2.114000	0.41911	0.844000	0.35094	0.650000	0.86243	GAA	-	superfamily_Kinase_like		0.433	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	protein_coding	OTTHUMT00000047320.1	G	NM_032844		27499101	+1	no_errors	NM_032844	genbank	human	validated	54_36p	missense	SNP	0.999	C
PLA2G3	50487	genome.wustl.edu	37	22	31536221	31536221	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr22:31536221G>C	ENST00000215885.3	-	1	372	c.120C>G	c.(118-120)aaC>aaG	p.N40K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	40					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCCCAGTGGGTTGCCAGGGA	0.657																																																0			22											56.0	60.0	59.0					22																	31536221		2203	4299	6502	29866221	SO:0001583	missense	50487			AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.120C>G	22.37:g.31536221G>C	ENSP00000215885:p.Asn40Lys		29866221	O95768	Missense_Mutation	SNP	superfamily_Phospholipase A2 PLA2,HMMPfam_Phospholip_A2_2,PatternScan_PA2_HIS	p.N40K	ENST00000215885.3	37	c.120	CCDS13889.1	22	.	.	.	.	.	.	.	.	.	.	G	8.487	0.861064	0.17178	.	.	ENSG00000100078	ENST00000215885	T	0.11277	2.79	5.69	-1.05	0.10036	.	0.901172	0.09803	N	0.753849	T	0.06234	0.0161	L	0.43152	1.355	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.42666	-0.9438	10	0.06891	T	0.86	-0.3904	1.7447	0.02959	0.1738:0.1343:0.4183:0.2736	.	40	Q9NZ20	PA2G3_HUMAN	K	40	ENSP00000215885:N40K	ENSP00000215885:N40K	N	-	3	2	PLA2G3	29866221	0.000000	0.05858	0.001000	0.08648	0.603000	0.37013	0.020000	0.13466	0.023000	0.15187	0.655000	0.94253	AAC	-	NULL		0.657	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G3	protein_coding	OTTHUMT00000321938.1	G	NM_015715		29866221	-1	no_errors	NM_015715	genbank	human	validated	54_36p	missense	SNP	0.001	C
NOL4	8715	genome.wustl.edu	37	18	31709893	31709893	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr18:31709893G>T	ENST00000261592.5	-	2	653	c.356C>A	c.(355-357)aCg>aAg	p.T119K	NOL4_ENST00000538587.1_Missense_Mutation_p.T45K|NOL4_ENST00000269185.4_Missense_Mutation_p.T5K|NOL4_ENST00000589544.1_Missense_Mutation_p.T119K|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	119						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATTTGGCCCCGTTTCCACATG	0.403																																																0			18											143.0	125.0	131.0					18																	31709893		2203	4300	6503	29963891	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.356C>A	18.37:g.31709893G>T	ENSP00000261592:p.Thr119Lys		29963891	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.T119K	ENST00000261592.5	37	c.356	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241768	0.79912	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000538587	D	0.83755	-1.76	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	D	0.87454	0.6181	L	0.44542	1.39	0.80722	D	1	P;D;D;D	0.67145	0.938;0.996;0.996;0.991	P;D;D;P	0.62955	0.826;0.909;0.909;0.879	D	0.86578	0.1852	10	0.45353	T	0.12	-14.1847	18.866	0.92292	0.0:0.0:1.0:0.0	.	5;45;119;119	B4DLW2;B4DSQ0;O94818;O94818-2	.;.;NOL4_HUMAN;.	K	119;5;45	ENSP00000261592:T119K	ENSP00000261592:T119K	T	-	2	0	NOL4	29963891	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.422000	0.66453	2.710000	0.92621	0.585000	0.79938	ACG	-	NULL		0.403	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	protein_coding	OTTHUMT00000255386.1	G	NM_003787		29963891	-1	no_errors	NM_003787	genbank	human	validated	54_36p	missense	SNP	1.000	T
KRTAP27-1	643812	genome.wustl.edu	37	21	31709534	31709534	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr21:31709534G>A	ENST00000382835.2	-	1	478	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	151						intermediate filament (GO:0005882)		p.F151F(2)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CCAGAGTTTCGAAATTTTTAG	0.493																																																2	Substitution - coding silent(2)	endometrium(2)	21											144.0	146.0	145.0					21																	31709534		2203	4300	6503	30631405	SO:0001819	synonymous_variant	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.453C>T	21.37:g.31709534G>A			30631405		Silent	SNP	HMMPfam_PMG	p.F151	ENST00000382835.2	37	c.453	CCDS33532.1	21																																																																																			-	HMMPfam_PMG		0.493	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	protein_coding	OTTHUMT00000132470.3	G	NM_001077711		30631405	-1	no_errors	NM_001077711	genbank	human	provisional	54_36p	silent	SNP	0.122	A
ITGAD	3681	genome.wustl.edu	37	16	31429472	31429472	+	Missense_Mutation	SNP	G	G	A	rs369360258		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr16:31429472G>A	ENST00000389202.2	+	21	2625	c.2576G>A	c.(2575-2577)cGc>cAc	p.R859H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	859					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGAAGCAGCCGCTGCAGTGTC	0.552																																																0			16						G	HIS/ARG	3,4391	6.2+/-15.9	0,3,2194	132.0	125.0	127.0		2576	0.7	0.8	16		127	0,8600		0,0,4300	no	missense	ITGAD	NM_005353.2	29	0,3,6494	AA,AG,GG		0.0,0.0683,0.0231	possibly-damaging	859/1162	31429472	3,12991	2197	4300	6497	31336973	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2576G>A	16.37:g.31429472G>A	ENSP00000373854:p.Arg859His		31336973	Q15575|Q15576	Missense_Mutation	SNP	superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.R859H	ENST00000389202.2	37	c.2576	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	9.026	0.985978	0.18889	6.83E-4	0.0	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.48522	0.81	5.06	0.696	0.18075	Integrin alpha-2 (1);	.	.	.	.	T	0.28995	0.0720	L	0.27053	0.805	0.18873	N	0.999981	P;B	0.34629	0.46;0.314	B;B	0.29942	0.109;0.109	T	0.17531	-1.0366	9	0.72032	D	0.01	.	4.9208	0.13869	0.2667:0.1525:0.5808:0.0	.	875;859	Q59H14;Q13349	.;ITAD_HUMAN	H	875;859	ENSP00000373854:R859H	ENSP00000373854:R859H	R	+	2	0	ITGAD	31336973	0.392000	0.25229	0.769000	0.31535	0.025000	0.11179	0.814000	0.27239	0.178000	0.19917	-0.137000	0.14449	CGC	-	HMMPfam_Integrin_alpha2,superfamily_Integrin domains		0.552	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	protein_coding	OTTHUMT00000432836.1	G	NM_005353		31336973	+1	no_errors	NM_005353	genbank	human	validated	54_36p	missense	SNP	0.933	A
CEP250	11190	genome.wustl.edu	37	20	34099253	34099253	+	Missense_Mutation	SNP	G	G	A	rs374274791		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr20:34099253G>A	ENST00000397527.1	+	35	7847	c.7127G>A	c.(7126-7128)cGc>cAc	p.R2376H	CEP250_ENST00000342580.4_Missense_Mutation_p.R2320H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2376					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TACATCACCCGCTCAGCACAG	0.592																																																0			20											59.0	56.0	57.0					20																	34099253		2203	4300	6503	33562667	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7127G>A	20.37:g.34099253G>A	ENSP00000380661:p.Arg2376His		33562667	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.R2376H	ENST00000397527.1	37	c.7127	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748278	0.69533	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.62232	2.17;2.14;0.04	4.29	4.29	0.51040	.	0.125415	0.36628	N	0.002490	T	0.77089	0.4079	M	0.76574	2.34	0.29630	N	0.845488	D	0.89917	1.0	D	0.87578	0.998	T	0.73767	-0.3879	10	0.52906	T	0.07	.	13.2422	0.60004	0.0:0.1604:0.8396:0.0	.	2376	Q9BV73	CP250_HUMAN	H	2376;2320;811	ENSP00000380661:R2376H;ENSP00000341541:R2320H;ENSP00000395992:R811H	ENSP00000341541:R2320H	R	+	2	0	CEP250	33562667	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	4.753000	0.62183	2.233000	0.73108	0.563000	0.77884	CGC	-	NULL		0.592	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	protein_coding	OTTHUMT00000078877.7	G	NM_007186		33562667	+1	no_errors	NM_007186	genbank	human	reviewed	54_36p	missense	SNP	0.126	A
SSTR3	6753	genome.wustl.edu	37	22	37603372	37603372	+	Silent	SNP	A	A	G	rs139412995	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr22:37603372A>G	ENST00000328544.3	-	2	1004	c.471T>C	c.(469-471)gcT>gcC	p.A157A	SSTR3_ENST00000402501.1_Silent_p.A157A	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	157					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GGGCCACCGGAGCTGTGCGCC	0.677													A|||	2	0.000399361	0.0	0.0014	5008	,	,		16006	0.0		0.001	False		,,,				2504	0.0															0			22						A		5,4401	9.9+/-24.2	0,5,2198	55.0	52.0	53.0		471	-7.2	0.6	22	dbSNP_134	53	41,8555	24.0+/-70.4	1,39,4258	no	coding-synonymous	SSTR3	NM_001051.2		1,44,6456	GG,GA,AA		0.477,0.1135,0.3538		157/419	37603372	46,12956	2203	4298	6501	35933318	SO:0001819	synonymous_variant	6753				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.471T>C	22.37:g.37603372A>G			35933318	A8K550|Q53ZR7	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A157	ENST00000328544.3	37	c.471	CCDS13944.1	22																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.677	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	protein_coding	OTTHUMT00000318802.1	A			35933318	-1	no_errors	NM_001051	genbank	human	reviewed	54_36p	silent	SNP	0.004	G
LRRK2	120892	genome.wustl.edu	37	12	40693012	40693012	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:40693012A>C	ENST00000298910.7	+	25	3507	c.3449A>C	c.(3448-3450)gAg>gCg	p.E1150A	LRRK2_ENST00000343742.2_Missense_Mutation_p.E1150A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1150					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AACTTTCTTGAGGCTTGTCCT	0.413																																																0			12											180.0	193.0	189.0					12																	40693012		2203	4300	6503	38979279	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3449A>C	12.37:g.40693012A>C	ENSP00000298910:p.Glu1150Ala		38979279	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2	p.E1150A	ENST00000298910.7	37	c.3449	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	9.064	0.995196	0.19043	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.23552	2.27;1.9	5.12	5.12	0.69794	.	0.273464	0.34879	N	0.003617	T	0.20577	0.0495	L	0.43152	1.355	0.20926	N	0.999824	B;B	0.18968	0.032;0.027	B;B	0.19666	0.026;0.02	T	0.13202	-1.0518	10	0.29301	T	0.29	.	8.1078	0.30896	0.73:0.1378:0.0:0.1322	.	1150;1150	E9PC85;Q5S007	.;LRRK2_HUMAN	A	1150	ENSP00000341930:E1150A;ENSP00000298910:E1150A	ENSP00000298910:E1150A	E	+	2	0	LRRK2	38979279	0.995000	0.38212	0.739000	0.30968	0.987000	0.75469	2.490000	0.45294	1.912000	0.55364	0.260000	0.18958	GAG	-	superfamily_SSF52058,HMMPfam_LRR_1		0.413	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	A	XM_058513		38979279	+1	no_errors	NM_198578	genbank	human	reviewed	54_36p	missense	SNP	0.362	C
FAM187B	148109	genome.wustl.edu	37	19	35715950	35715950	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr19:35715950G>A	ENST00000324675.3	-	2	936	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	296						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CGGCGGGTTTGAACTGGGCCA	0.667																																																0			19											25.0	28.0	27.0					19																	35715950		2203	4300	6503	40407790	SO:0001819	synonymous_variant	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.888C>T	19.37:g.35715950G>A			40407790	Q8N7G6	Silent	SNP	NULL	p.F296	ENST00000324675.3	37	c.888	CCDS12448.1	19																																																																																			-	NULL		0.667	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	protein_coding	OTTHUMT00000378854.1	G	NM_152481		40407790	-1	no_errors	NM_152481	genbank	human	provisional	54_36p	silent	SNP	0.295	A
PIGT	51604	genome.wustl.edu	37	20	44048172	44048172	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr20:44048172A>G	ENST00000279036.6	+	5	703	c.623A>G	c.(622-624)gAt>gGt	p.D208G	PIGT_ENST00000535404.1_Missense_Mutation_p.D53G|PIGT_ENST00000279035.9_Missense_Mutation_p.D106G|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_5'UTR|PIGT_ENST00000372689.5_Missense_Mutation_p.D208G|PIGT_ENST00000543458.2_Missense_Mutation_p.D152G	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	208					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTGAAGGCAGATCGCTTGTTC	0.557																																																0			20											141.0	133.0	136.0					20																	44048172		2203	4300	6503	43481586	SO:0001583	missense	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.623A>G	20.37:g.44048172A>G	ENSP00000279036:p.Asp208Gly		43481586	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	HMMPfam_Gpi16	p.D208G	ENST00000279036.6	37	c.623	CCDS13353.1	20	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746490	0.49257	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000535404	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	6.17	6.17	0.99709	.	0.102629	0.64402	D	0.000004	T	0.30230	0.0758	N	0.02247	-0.625	0.80722	D	1	B;B;B;P;P;B	0.49783	0.016;0.0;0.013;0.928;0.925;0.001	B;B;B;P;P;B	0.51895	0.016;0.003;0.009;0.683;0.616;0.005	T	0.37641	-0.9697	10	0.22706	T	0.39	-17.2119	16.0034	0.80327	1.0:0.0:0.0:0.0	.	46;106;53;152;64;208	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;Q969N2-3;Q969N2	.;.;.;.;.;PIGT_HUMAN	G	152;208;106;208;106;53	ENSP00000441577:D152G;ENSP00000361774:D208G;ENSP00000279035:D106G;ENSP00000279036:D208G;ENSP00000407574:D106G;ENSP00000440528:D53G	ENSP00000279035:D106G	D	+	2	0	PIGT	43481586	1.000000	0.71417	0.457000	0.27056	0.983000	0.72400	8.942000	0.92970	2.371000	0.80710	0.533000	0.62120	GAT	-	HMMPfam_Gpi16		0.557	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	protein_coding	OTTHUMT00000079434.2	A	NM_015937		43481586	+1	no_errors	NM_015937	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MAP3K10	4294	genome.wustl.edu	37	19	40711187	40711187	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr19:40711187T>C	ENST00000253055.3	+	4	1460	c.1172T>C	c.(1171-1173)cTt>cCt	p.L391P	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	391	Leucine-zipper 1.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTTGATGACCTTCGGACCAAG	0.557																																																0			19											59.0	57.0	57.0					19																	40711187		2203	4300	6503	45403027	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1172T>C	19.37:g.40711187T>C	ENSP00000253055:p.Leu391Pro		45403027	Q12761|Q14871	Missense_Mutation	SNP	superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.L391P	ENST00000253055.3	37	c.1172	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072024	0.76415	.	.	ENSG00000130758	ENST00000253055	T	0.80480	-1.38	4.8	4.8	0.61643	.	0.071558	0.56097	D	0.000025	D	0.88433	0.6435	M	0.79614	2.46	0.80722	D	1	D	0.65815	0.995	D	0.68765	0.96	D	0.89802	0.3976	10	0.87932	D	0	.	12.5863	0.56419	0.0:0.0:0.0:1.0	.	391	Q02779	M3K10_HUMAN	P	391	ENSP00000253055:L391P	ENSP00000253055:L391P	L	+	2	0	MAP3K10	45403027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.907000	0.87430	1.904000	0.55121	0.477000	0.44152	CTT	-	NULL		0.557	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	protein_coding	OTTHUMT00000462552.1	T	NM_002446		45403027	+1	no_errors	NM_002446	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SPATS2	65244	genome.wustl.edu	37	12	49783887	49783887	+	Intron	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:49783887C>T	ENST00000553127.1	+	3	270				SPATS2_ENST00000321898.6_Intron|SPATS2_ENST00000547865.1_Intron|SPATS2_ENST00000552918.1_Intron			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2							cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GAAGATGTGTCGGAAAGTACT	0.403																																																0			12																																								48070154	SO:0001627	intron_variant	648279			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.-244+2967C>T	12.37:g.49783887C>T			48070154	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	RNA	SNP	-	NULL	ENST00000553127.1	37	NULL	CCDS31794.1	12																																																																																			-	-		0.403	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC648279	protein_coding	OTTHUMT00000404023.1	C	NM_023071		48070154	+1	pseudogene	XR_039433	genbank	human	model	54_36p	rna	SNP	0.003	T
SLC5A9	200010	genome.wustl.edu	37	1	48713036	48713036	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:48713036T>C	ENST00000438567.2	+	14	1919	c.1867T>C	c.(1867-1869)Tgg>Cgg	p.W623R	SLC5A9_ENST00000236495.5_Missense_Mutation_p.W648R|SLC5A9_ENST00000533824.1_Missense_Mutation_p.W644R|SLC5A9_ENST00000471020.1_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	623					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AAAGTTGCTCTGGAGCTGGTT	0.572																																																0			1											44.0	43.0	43.0					1																	48713036		2203	4300	6503	48485623	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1867T>C	1.37:g.48713036T>C	ENSP00000401730:p.Trp623Arg		48485623	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1	p.W641R	ENST00000438567.2	37	c.1921	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443470	0.43429	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.87256	-2.17;-2.16;-2.23	5.39	4.24	0.50183	.	0.401784	0.28549	N	0.014960	T	0.81059	0.4744	L	0.42245	1.32	0.80722	D	1	B;B;B	0.31931	0.347;0.0;0.001	B;B;B	0.25759	0.063;0.001;0.001	T	0.77624	-0.2518	10	0.51188	T	0.08	.	11.8111	0.52183	0.0:0.0:0.1469:0.8531	.	644;623;648	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	R	644;623;648	ENSP00000431900:W644R;ENSP00000401730:W623R;ENSP00000236495:W648R	ENSP00000236495:W648R	W	+	1	0	SLC5A9	48485623	1.000000	0.71417	0.881000	0.34555	0.951000	0.60555	3.644000	0.54381	0.855000	0.35359	0.533000	0.62120	TGG	-	NULL		0.572	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	protein_coding	OTTHUMT00000022061.3	T	XM_117174		48485623	+1	no_errors	NM_001011547	genbank	human	validated	54_36p	missense	SNP	0.376	C
ITGA1	3672	genome.wustl.edu	37	5	52201731	52201731	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:52201731G>C	ENST00000282588.6	+	12	1906	c.1448G>C	c.(1447-1449)gGa>gCa	p.G483A		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	483					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACGCTCAGTGGAGAACAGGTA	0.348																																																0			5											86.0	86.0	86.0					5																	52201731		2203	4300	6503	52237488	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1448G>C	5.37:g.52201731G>C	ENSP00000282588:p.Gly483Ala		52237488	B2RNU0	Missense_Mutation	SNP	superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA	p.G483A	ENST00000282588.6	37	c.1448	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	30	5.055462	0.93793	.	.	ENSG00000213949	ENST00000282588	T	0.44083	0.93	5.77	5.77	0.91146	.	0.114300	0.64402	D	0.000016	T	0.77170	0.4091	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.83718	0.0191	10	0.87932	D	0	.	19.9575	0.97228	0.0:0.0:1.0:0.0	.	483	P56199	ITA1_HUMAN	A	483	ENSP00000282588:G483A	ENSP00000282588:G483A	G	+	2	0	ITGA1	52237488	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.057000	0.93889	2.890000	0.99128	0.650000	0.86243	GGA	-	superfamily_SSF69318		0.348	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	protein_coding	OTTHUMT00000253855.3	G	NM_181501		52237488	+1	no_errors	NM_181501	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
OR8I2	120586	genome.wustl.edu	37	11	55861483	55861483	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr11:55861483C>A	ENST00000302124.2	+	1	731	c.700C>A	c.(700-702)Cag>Aag	p.Q234K		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGCAGGCAGGCAGAAGGCCTT	0.468																																																0			11											152.0	137.0	142.0					11																	55861483		2201	4296	6497	55618059	SO:0001583	missense	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.700C>A	11.37:g.55861483C>A	ENSP00000303864:p.Gln234Lys		55618059	B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.Q234K	ENST00000302124.2	37	c.700	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	C	7.912	0.736667	0.15574	.	.	ENSG00000172154	ENST00000302124	T	0.00058	8.79	4.33	-3.68	0.04463	GPCR, rhodopsin-like superfamily (1);	1.321060	0.05579	N	0.572443	T	0.00109	0.0003	L	0.27944	0.81	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02533	-1.1145	10	0.23302	T	0.38	2.9586	6.0168	0.19607	0.5504:0.3325:0.0:0.1171	.	234	Q8N0Y5	OR8I2_HUMAN	K	234	ENSP00000303864:Q234K	ENSP00000303864:Q234K	Q	+	1	0	OR8I2	55618059	0.000000	0.05858	0.778000	0.31720	0.857000	0.48899	-0.423000	0.07034	-0.493000	0.06678	0.440000	0.28878	CAG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.468	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	protein_coding		C	NM_001003750		55618059	+1	no_errors	NM_001003750	genbank	human	provisional	54_36p	missense	SNP	0.007	A
STAT6	6778	genome.wustl.edu	37	12	57496628	57496628	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:57496628T>C	ENST00000300134.3	-	12	1614	c.1289A>G	c.(1288-1290)aAt>aGt	p.N430S	STAT6_ENST00000538913.2_Missense_Mutation_p.N320S|STAT6_ENST00000543873.2_Missense_Mutation_p.N430S|STAT6_ENST00000454075.3_Missense_Mutation_p.N430S|STAT6_ENST00000537215.2_Missense_Mutation_p.N320S|STAT6_ENST00000556155.1_Missense_Mutation_p.N430S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	430					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGAGAAGGCATTGTCCCACAG	0.577																																																0			12											149.0	115.0	127.0					12																	57496628		2203	4300	6503	55782895	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1289A>G	12.37:g.57496628T>C	ENSP00000300134:p.Asn430Ser		55782895	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,HMMPfam_STAT_alpha,superfamily_STAT,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2,HMMSmart_SM00252	p.N430S	ENST00000300134.3	37	c.1289	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175523	0.78564	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.44	5.44	0.79542	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.097301	0.64402	D	0.000001	D	0.94918	0.8357	M	0.66939	2.045	0.47065	D	0.999305	D;D	0.71674	0.998;0.997	D;D	0.69654	0.965;0.936	D	0.95256	0.8364	10	0.87932	D	0	-17.3227	13.4858	0.61364	0.0:0.0:0.0:1.0	.	430;430	A8K4S9;P42226	.;STAT6_HUMAN	S	430;320;320;430;430;320;430;320;430	ENSP00000300134:N430S;ENSP00000445409:N320S;ENSP00000438451:N430S;ENSP00000451742:N430S;ENSP00000444530:N320S;ENSP00000401486:N430S	ENSP00000300134:N430S	N	-	2	0	STAT6	55782895	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.572000	0.45999	2.285000	0.76669	0.528000	0.53228	AAT	-	HMMPfam_STAT_bind,superfamily_p53-like transcription factors		0.577	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	protein_coding	OTTHUMT00000412248.3	T	NM_003153		55782895	-1	no_errors	NM_003153	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ZNF528	84436	genome.wustl.edu	37	19	52919382	52919382	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr19:52919382G>A	ENST00000360465.3	+	7	1703	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	426					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)	p.R426Q(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GACCTTATACGACATCGAAAA	0.393																																																1	Substitution - Missense(1)	large_intestine(1)	19											77.0	78.0	78.0					19																	52919382		2203	4300	6503	57611194	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1277G>A	19.37:g.52919382G>A	ENSP00000353652:p.Arg426Gln		57611194	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.R426Q	ENST00000360465.3	37	c.1277	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	1.969	-0.436942	0.04636	.	.	ENSG00000167555	ENST00000360465	T	0.26223	1.75	1.81	-3.4	0.04853	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12518	0.0304	L	0.56340	1.77	0.09310	N	1	P	0.37955	0.612	B	0.17433	0.018	T	0.25606	-1.0127	9	0.20519	T	0.43	.	1.0203	0.01516	0.2734:0.1666:0.3928:0.1672	.	426	Q3MIS6	ZN528_HUMAN	Q	426	ENSP00000353652:R426Q	ENSP00000353652:R426Q	R	+	2	0	ZNF528	57611194	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-11.162000	0.00004	-0.328000	0.08539	-0.768000	0.03414	CGA	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	protein_coding	OTTHUMT00000344336.1	G	NM_032423		57611194	+1	no_errors	NM_032423	genbank	human	validated	54_36p	missense	SNP	0.000	A
NLRP8	126205	genome.wustl.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	rs149738419		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512																																																0			19						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	107.0	111.0		272	-1.3	0.0	19	dbSNP_134	111	0,8600		0,0,4300	no	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	91/1049	56459540	1,13005	2203	4300	6503	61151352	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.272G>A	19.37:g.56459540G>A	ENSP00000291971:p.Arg91His		61151352	Q7RTR4	Missense_Mutation	SNP	superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368	p.R91H	ENST00000291971.3	37	c.272	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781099	0.16120	2.27E-4	0.0	ENSG00000179709	ENST00000291971	T	0.44083	0.93	2.23	-1.29	0.09288	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.11879	0.0289	N	0.03209	-0.39	0.09310	N	1	P;B	0.45634	0.863;0.064	B;B	0.36922	0.236;0.0	T	0.12372	-1.0550	9	0.06365	T	0.9	.	2.9194	0.05764	0.4182:0.2521:0.3298:0.0	.	91;91	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	91	ENSP00000291971:R91H	ENSP00000291971:R91H	R	+	2	0	NLRP8	61151352	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-1.790000	0.01759	-0.408000	0.07565	-0.492000	0.04666	CGT	-	superfamily_DEATH domain,HMMPfam_PAAD_DAPIN		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	protein_coding	OTTHUMT00000457462.1	G	NM_176811		61151352	+1	no_errors	NM_176811	genbank	human	provisional	54_36p	missense	SNP	0.002	A
IQCH	64799	genome.wustl.edu	37	15	67681322	67681322	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:67681322C>G	ENST00000335894.4	+	12	1676	c.1610C>G	c.(1609-1611)cCt>cGt	p.P537R	IQCH_ENST00000358767.3_Missense_Mutation_p.P364R|IQCH_ENST00000546225.1_Missense_Mutation_p.P285R|IQCH_ENST00000360277.4_Missense_Mutation_p.P289R	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	537										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATTATCACACCTGAAGCTGTA	0.388																																																0			15											133.0	118.0	123.0					15																	67681322		2201	4299	6500	65468376	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1610C>G	15.37:g.67681322C>G	ENSP00000336861:p.Pro537Arg		65468376	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	HMMPfam_IQ	p.P537R	ENST00000335894.4	37	c.1610	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355881	0.82243	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	D;D;T;D	0.90900	-2.75;-2.65;-0.2;-2.57	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	M	0.82056	2.57	0.35193	D	0.773523	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.996;1.0	D	0.97695	1.0181	10	0.87932	D	0	-14.2872	20.2985	0.98592	0.0:1.0:0.0:0.0	.	285;289;537	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	R	364;285;537;289	ENSP00000351617:P364R;ENSP00000444118:P285R;ENSP00000336861:P537R;ENSP00000353419:P289R	ENSP00000336861:P537R	P	+	2	0	IQCH	65468376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.270000	0.65547	2.793000	0.96121	0.655000	0.94253	CCT	-	NULL		0.388	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	protein_coding	OTTHUMT00000256969.1	C	NM_022784		65468376	+1	no_errors	NM_001031715	genbank	human	provisional	54_36p	missense	SNP	1.000	G
DNAJC6	9829	genome.wustl.edu	37	1	65867548	65867548	+	Missense_Mutation	SNP	G	G	A	rs140156759		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:65867548G>A	ENST00000395325.3	+	15	2198	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	DNAJC6_ENST00000371069.4_Missense_Mutation_p.D738N|DNAJC6_ENST00000263441.7_Missense_Mutation_p.D668N	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	681	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCTTTTGCCGACCTTGGGAC	0.463																																																0			1						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	89.0	88.0	88.0		2041	5.3	1.0	1	dbSNP_134	88	0,8600		0,0,4300	no	missense	DNAJC6	NM_014787.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	681/914	65867548	1,13005	2203	4300	6503	65640136	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2041G>A	1.37:g.65867548G>A	ENSP00000378735:p.Asp681Asn		65640136	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ	p.D681N	ENST00000395325.3	37	c.2041	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032185	0.93575	2.27E-4	0.0	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.96334	-3.84;-3.98;-3.92	5.26	5.26	0.73747	.	0.048075	0.85682	D	0.000000	D	0.97501	0.9182	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96355	0.9261	10	0.36615	T	0.2	.	19.0569	0.93069	0.0:0.0:1.0:0.0	.	738;681	O75061-2;O75061	.;AUXI_HUMAN	N	668;681;738	ENSP00000263441:D668N;ENSP00000378735:D681N;ENSP00000360108:D738N	ENSP00000263441:D668N	D	+	1	0	DNAJC6	65640136	1.000000	0.71417	0.980000	0.43619	0.864000	0.49448	9.222000	0.95196	2.732000	0.93576	0.650000	0.86243	GAC	-	NULL		0.463	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	protein_coding	OTTHUMT00000025134.1	G			65640136	+1	no_errors	NM_014787	genbank	human	validated	54_36p	missense	SNP	1.000	A
CORO2B	10391	genome.wustl.edu	37	15	69018290	69018290	+	Missense_Mutation	SNP	C	C	T	rs546189688		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:69018290C>T	ENST00000566799.1	+	12	1449	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	CORO2B_ENST00000261861.5_Missense_Mutation_p.R469C|CORO2B_ENST00000543950.1_Missense_Mutation_p.R469C|CORO2B_ENST00000540068.1_Missense_Mutation_p.R469C			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	474					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAAAAACTTGCGCAACAGCCC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17256	0.0		0.0	False		,,,				2504	0.0															0			15											55.0	55.0	55.0					15																	69018290		2200	4298	6498	66805344	SO:0001583	missense	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1420C>T	15.37:g.69018290C>T	ENSP00000454783:p.Arg474Cys		66805344	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900	p.R474C	ENST00000566799.1	37	c.1420	CCDS10229.2	15	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619263	0.66787	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.61274	0.12;0.12	3.62	2.69	0.31865	.	0.121256	0.52532	D	0.000061	T	0.59528	0.2200	L	0.61218	1.895	0.58432	D	0.999997	D	0.64830	0.994	P	0.52758	0.708	T	0.59490	-0.7445	10	0.72032	D	0.01	-6.0309	5.4172	0.16380	0.1973:0.6932:0.0:0.1094	.	474	Q9UQ03	COR2B_HUMAN	C	474;469;469	ENSP00000446250:R469C;ENSP00000443819:R469C	ENSP00000261861:R474C	R	+	1	0	CORO2B	66805344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.701000	0.61810	0.632000	0.30432	0.442000	0.29010	CGC	-	NULL		0.527	CORO2B-203	KNOWN	basic|CCDS	protein_coding	CORO2B	protein_coding		C	NM_006091		66805344	+1	no_errors	NM_006091	genbank	human	validated	54_36p	missense	SNP	1.000	T
SERBP1	26135	genome.wustl.edu	37	1	67895855	67895855	+	Silent	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:67895855C>T	ENST00000370995.2	-	1	214	c.129G>A	c.(127-129)ggG>ggA	p.G43G	SERBP1_ENST00000370994.4_Silent_p.G43G|SERBP1_ENST00000361219.6_Silent_p.G43G|SERBP1_ENST00000370990.5_Silent_p.G43G			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	43					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CAACGCCGCCCCCGCCGGCTT	0.627																																																0			1											26.0	34.0	31.0					1																	67895855		2103	4241	6344	67668443	SO:0001819	synonymous_variant	26135			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.129G>A	1.37:g.67895855C>T			67668443	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Silent	SNP	HMMPfam_HABP4_PAI-RBP1	p.G43	ENST00000370995.2	37	c.129	CCDS30746.1	1																																																																																			-	NULL		0.627	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERBP1	protein_coding	OTTHUMT00000025984.2	C	NM_001018067		67668443	-1	no_errors	NM_001018067	genbank	human	validated	54_36p	silent	SNP	1.000	T
UGT2B28	54490	genome.wustl.edu	37	4	70160459	70160459	+	Missense_Mutation	SNP	G	G	A	rs150330705	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:70160459G>A	ENST00000335568.5	+	6	1524	c.1522G>A	c.(1522-1524)Gtc>Atc	p.V508I	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	508					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GATATTTGTCGTCACAAAGTT	0.443													N|||	9	0.00179712	0.0	0.0043	5008	,	,		12786	0.0		0.006	False		,,,				2504	0.0															0			4						A	,ILE/VAL	4,4056		0,4,2026	149.0	155.0	153.0		,1522	-0.7	0.0	4	dbSNP_134	153	51,8411		3,45,4183	no	utr-3,missense	UGT2B28	NM_001207004.1,NM_053039.1	,29	3,49,6209	AA,AG,GG		0.6027,0.0985,0.4392	,benign	,508/530	70160459	55,12467	2030	4231	6261	70195048	SO:0001583	missense	54490			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1522G>A	4.37:g.70160459G>A	ENSP00000334276:p.Val508Ile		70195048	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT	p.V508I	ENST00000335568.5	37	c.1522	CCDS3528.1	4	.	.	.	.	.	.	.	.	.	.	-	0.017	-1.491710	0.01009	9.85E-4	0.006027	ENSG00000135226	ENST00000335568	T	0.59083	0.29	1.85	-0.744	0.11101	.	0.817300	0.10201	N	0.703346	T	0.22551	0.0544	N	0.10874	0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18745	-1.0327	10	0.08381	T	0.77	.	6.6658	0.23039	0.5249:0.0:0.4751:0.0	.	508	Q9BY64	UDB28_HUMAN	I	508	ENSP00000334276:V508I	ENSP00000334276:V508I	V	+	1	0	UGT2B28	70195048	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.104000	0.03326	-0.454000	0.07066	-1.451000	0.01035	GTC	-	HMMPfam_UDPGT		0.443	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B28	protein_coding	OTTHUMT00000251557.2	G	NM_053039		70195048	+1	no_errors	NM_053039	genbank	human	provisional	54_36p	missense	SNP	0.000	A
CSN2	1447	genome.wustl.edu	37	4	70823039	70823039	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:70823039T>C	ENST00000353151.3	-	5	639	c.628A>G	c.(628-630)Atc>Gtc	p.I210V		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ACAGGGTAGATCTGGTGGGTG	0.502																																																0			4											82.0	78.0	79.0					4																	70823039		2203	4300	6503	70857628	SO:0001583	missense	1447			X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.628A>G	4.37:g.70823039T>C	ENSP00000341030:p.Ile210Val		70857628	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	PatternScan_CASEIN_ALPHA_BETA,HMMPfam_Casein	p.I210V	ENST00000353151.3	37	c.628	CCDS3532.1	4	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440617	0.25900	.	.	ENSG00000135222	ENST00000353151	.	.	.	3.9	-7.75	0.01236	.	2.614480	0.01156	N	0.006526	T	0.13500	0.0327	N	0.11427	0.14	0.09310	N	1	B	0.23990	0.095	B	0.19666	0.026	T	0.16394	-1.0404	9	0.10111	T	0.7	-27.7617	1.7403	0.02951	0.2058:0.1309:0.3873:0.276	.	210	P05814	CASB_HUMAN	V	210	.	ENSP00000341030:I210V	I	-	1	0	CSN2	70857628	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-2.362000	0.01082	-1.478000	0.01869	-1.304000	0.01323	ATC	-	HMMPfam_Casein		0.502	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN2	protein_coding	OTTHUMT00000251565.1	T			70857628	-1	no_errors	NM_001891	genbank	human	validated	54_36p	missense	SNP	0.000	C
ADAMTS3	9508	genome.wustl.edu	37	4	73154574	73154574	+	Silent	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:73154574G>C	ENST00000286657.4	-	21	2979	c.2943C>G	c.(2941-2943)acC>acG	p.T981T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	981	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCACCGCAGGTCACTGAAC	0.537																																					NSCLC(168;1941 2048 2918 13048 43078)											0			4											73.0	61.0	65.0					4																	73154574		2203	4300	6503	73373438	SO:0001819	synonymous_variant	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2943C>G	4.37:g.73154574G>C			73373438	A1L3U9|Q9BXZ8	Silent	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.T981	ENST00000286657.4	37	c.2943	CCDS3553.1	4																																																																																			-	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1		0.537	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	protein_coding	OTTHUMT00000252164.2	G			73373438	-1	no_errors	NM_014243	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
VCL	7414	genome.wustl.edu	37	10	75867093	75867093	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr10:75867093C>G	ENST00000211998.4	+	17	2634	c.2540C>G	c.(2539-2541)cCa>cGa	p.P847R	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P847R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	847	Linker (Pro-rich).|Pro-rich.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCGCCTCCACCAGACCTTGAA	0.502																																																0			10											67.0	62.0	64.0					10																	75867093		2203	4300	6503	75537099	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2540C>G	10.37:g.75867093C>G	ENSP00000211998:p.Pro847Arg		75537099	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	superfamily_alpha-catenin/vinculin,HMMPfam_Vinculin,PatternScan_VINCULIN_1,PatternScan_VINCULIN_2	p.P847R	ENST00000211998.4	37	c.2540	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730116	0.89390	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.37058	1.22;1.22;1.22	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.73217	2.22	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.87578	0.994;0.994;0.998	T	0.63314	-0.6665	10	0.72032	D	0.01	.	20.1761	0.98178	0.0:1.0:0.0:0.0	.	774;847;847	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	R	847;847;754;774;519	ENSP00000361841:P847R;ENSP00000211998:P847R;ENSP00000415489:P519R	ENSP00000211998:P847R	P	+	2	0	VCL	75537099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.761000	0.68801	2.775000	0.95449	0.650000	0.86243	CCA	-	HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin		0.502	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	protein_coding		C	NM_003373, NM_014000		75537099	+1	no_errors	NM_014000	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MIR2052HG	441355	genome.wustl.edu	37	8	75516359	75516359	+	Intron	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr8:75516359C>T	ENST00000523118.1	+	1	43																											CCACTCTCCTCGCGCATCTTC	0.438																																																0			8																																								75678914	SO:0001627	intron_variant	286157																														ENST00000523118.1:c.-16+4216C>T	8.37:g.75516359C>T			75678914		RNA	SNP	-	NULL	ENST00000523118.1	37	NULL		8																																																																																			-	-		0.438	RP11-758M4.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC286157	protein_coding	OTTHUMT00000379070.2	C			75678914	-1	pseudogene	XR_038608	genbank	human	model	54_36p	rna	SNP	0.832	T
ACADM	34	genome.wustl.edu	37	1	76216135	76216135	+	Splice_Site	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:76216135G>A	ENST00000370841.4	+	10	1286		c.e10-1		ACADM_ENST00000543667.1_Splice_Site|ACADM_ENST00000420607.2_Splice_Site|ACADM_ENST00000541113.1_Splice_Site|ACADM_ENST00000370834.5_Splice_Site	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain						cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TAAAATACTAGGTAGCTGCTG	0.378																																																0			1											47.0	51.0	50.0					1																	76216135		2203	4300	6503	75988723	SO:0001630	splice_region_variant	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.850-1G>A	1.37:g.76216135G>A			75988723	Q5T4U4|Q9NYF1	Splice_Site	SNP	-	e10-1	ENST00000370841.4	37	c.850-1	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307621	0.23821	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.031	0.89283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACADM	75988723	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	9.421000	0.97455	2.626000	0.88956	0.591000	0.81541	.	-	-		0.378	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	protein_coding	OTTHUMT00000026967.1	G		Intron	75988723	+1	no_errors	NM_000016	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
CENPN	55839	genome.wustl.edu	37	16	81066242	81066242	+	Silent	SNP	G	G	T	rs556967474		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr16:81066242G>T	ENST00000393335.3	+	11	1079	c.1005G>T	c.(1003-1005)ccG>ccT	p.P335P	RP11-303E16.2_ENST00000566639.1_RNA|RP11-303E16.3_ENST00000561808.1_RNA|RP11-303E16.3_ENST00000566390.1_RNA	NM_001100625.2	NP_001094095.2	Q96H22	CENPN_HUMAN	centromere protein N	0					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						cccaggacccgagcagctggc	0.398																																																0			16											67.0	71.0	70.0					16																	81066242		1867	4099	5966	79623743	SO:0001819	synonymous_variant	55839			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000393335.3:c.1005G>T	16.37:g.81066242G>T			79623743	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Silent	SNP	HMMPfam_CHL4	p.P335	ENST00000393335.3	37	c.1005	CCDS42199.1	16																																																																																			-	HMMPfam_CHL4		0.398	CENPN-002	PUTATIVE	basic|CCDS	protein_coding	CENPN	protein_coding	OTTHUMT00000269052.1	G	NM_018455		79623743	+1	no_errors	NM_001100625	genbank	human	validated	54_36p	silent	SNP	0.012	T
ADAMTSL3	57188	genome.wustl.edu	37	15	84651306	84651306	+	Missense_Mutation	SNP	G	G	A	rs150618994		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:84651306G>A	ENST00000286744.5	+	21	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	976	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567																																																0			15						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	80.0	81.0	81.0		2926	5.1	0.9	15	dbSNP_134	81	0,8600		0,0,4300	no	missense	ADAMTSL3	NM_207517.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	976/1692	84651306	1,13005	2203	4300	6503	82442310	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2926G>A	15.37:g.84651306G>A	ENSP00000286744:p.Asp976Asn		82442310	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC	p.D976N	ENST00000286744.5	37	c.2926	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810721	0.70797	2.27E-4	0.0	ENSG00000156218	ENST00000286744	D	0.85484	-1.99	5.05	5.05	0.67936	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000335	D	0.94712	0.8294	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95906	0.8919	10	0.62326	D	0.03	.	18.4388	0.90656	0.0:0.0:1.0:0.0	.	976;976	P82987-2;P82987	.;ATL3_HUMAN	N	976	ENSP00000286744:D976N	ENSP00000286744:D976N	D	+	1	0	ADAMTSL3	82442310	1.000000	0.71417	0.869000	0.34112	0.057000	0.15508	6.786000	0.75094	2.338000	0.79540	0.563000	0.77884	GAC	-	HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408		0.567	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	G	NM_207517		82442310	+1	no_errors	NM_207517	genbank	human	validated	54_36p	missense	SNP	0.993	A
MBTPS1	8720	genome.wustl.edu	37	16	84118678	84118678	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr16:84118678C>T	ENST00000343411.3	-	10	1691	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	399	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCAGAACCCCGCACGCCAGC	0.562											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			16											77.0	68.0	71.0					16																	84118678		2200	4300	6500	82676179	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1196G>A	16.37:g.84118678C>T	ENSP00000344223:p.Arg399Gln	1226	82676179	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	PatternScan_SUBTILASE_ASP,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER	p.R399Q	ENST00000343411.3	37	c.1196	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805302	0.70682	.	.	ENSG00000140943	ENST00000343411	T	0.41758	0.99	5.48	5.48	0.80851	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	L	0.27053	0.805	0.80722	D	1	P	0.40638	0.725	B	0.38842	0.283	T	0.06144	-1.0843	10	0.29301	T	0.29	-16.7162	19.3469	0.94367	0.0:1.0:0.0:0.0	.	399	Q14703	MBTP1_HUMAN	Q	399	ENSP00000344223:R399Q	ENSP00000344223:R399Q	R	-	2	0	MBTPS1	82676179	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.818000	0.86416	2.560000	0.86352	0.561000	0.74099	CGG	-	superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8		0.562	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	protein_coding	OTTHUMT00000269080.2	C	NM_003791		82676179	-1	no_errors	NM_003791	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SYNCRIP	10492	genome.wustl.edu	37	6	86324617	86324617	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:86324617G>A	ENST00000369622.3	-	11	2229	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	SYNCRIP_ENST00000355238.6_Intron|RP11-321N4.5_ENST00000503906.1_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	577					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTCTGGCGCCGCTTGGAATCT	0.542																																																0			6											131.0	131.0	131.0					6																	86324617		2203	4300	6503	86381336	SO:0001583	missense	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1729C>T	6.37:g.86324617G>A	ENSP00000358635:p.Arg577Trp		86381336	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.R577W	ENST00000369622.3	37	c.1729	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847147	0.51164	.	.	ENSG00000135316	ENST00000369622	T	0.36340	1.26	5.19	5.19	0.71726	.	0.057387	0.64402	D	0.000001	T	0.51210	0.1661	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.973;0.988	T	0.55198	-0.8178	10	0.87932	D	0	.	18.7087	0.91648	0.0:0.0:1.0:0.0	.	577;542	O60506;O60506-2	HNRPQ_HUMAN;.	W	577	ENSP00000358635:R577W	ENSP00000358635:R577W	R	-	1	2	SYNCRIP	86381336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.867000	0.99620	2.419000	0.82065	0.563000	0.77884	CGG	-	NULL		0.542	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	protein_coding	OTTHUMT00000041396.1	G	NM_006372		86381336	-1	no_errors	NM_006372	genbank	human	provisional	54_36p	missense	SNP	1.000	A
EPHA3	2042	genome.wustl.edu	37	3	89456453	89456453	+	Silent	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:89456453C>T	ENST00000336596.2	+	8	1854	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	EPHA3_ENST00000494014.1_Silent_p.V543V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	543					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCCAAGTGGTCATGATCGCCA	0.398										TSP Lung(6;0.00050)																																						0			3											174.0	149.0	157.0					3																	89456453		2203	4300	6503	89539143	SO:0001819	synonymous_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1629C>T	3.37:g.89456453C>T			89539143	Q9H2V3|Q9H2V4	Silent	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain	p.V543	ENST00000336596.2	37	c.1629	CCDS2922.1	3																																																																																			-	NULL		0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	protein_coding	OTTHUMT00000352995.1	C	NM_005233		89539143	+1	no_errors	NM_005233	genbank	human	reviewed	54_36p	silent	SNP	0.087	T
FAT3	120114	genome.wustl.edu	37	11	92533259	92533259	+	Silent	SNP	C	C	T	rs548864892		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr11:92533259C>T	ENST00000298047.6	+	9	7097	c.7080C>T	c.(7078-7080)tgC>tgT	p.C2360C	FAT3_ENST00000409404.2_Silent_p.C2360C|FAT3_ENST00000525166.1_Silent_p.C2210C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2360	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAACACTGCACTTTGAAAG	0.418										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0.0	0.0	5008	,	,		21482	0.001		0.0	False		,,,				2504	0.0															0			11											115.0	110.0	112.0					11																	92533259		1963	4148	6111	92172907	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7080C>T	11.37:g.92533259C>T			92172907	B5MDB0|Q96AU6	Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2	p.C2360	ENST00000298047.6	37	c.7080		11																																																																																			-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.418	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781		92172907	+1	no_errors	NM_001008781	genbank	human	validated	54_36p	silent	SNP	0.976	T
Unknown	0	genome.wustl.edu	37	12	94915724	94915724	+	IGR	SNP	C	C	T	rs548325934	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:94915724C>T								RN7SL483P (6188 upstream) : MIR5700 (39840 downstream)																							CAGAGACCCACGAGCCCACGC	0.458													C|||	4	0.000798722	0.003	0.0	5008	,	,		18054	0.0		0.0	False		,,,				2504	0.0															0			12																																								93439855	SO:0001628	intergenic_variant	400061																															12.37:g.94915724C>T			93439855		RNA	SNP	-	NULL		37	NULL		12																																																																																			-	-	0	0.458					LOC400061			C			93439855	-1	pseudogene	XR_016608	genbank	human	model	54_36p	rna	SNP	0.007	T
LTA4H	4048	genome.wustl.edu	37	12	96414915	96414915	+	Splice_Site	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:96414915C>A	ENST00000228740.2	-	6	727	c.586G>T	c.(586-588)Gtt>Ttt	p.V196F	LTA4H_ENST00000413268.2_Splice_Site_p.V172F|LTA4H_ENST00000552789.1_Splice_Site_p.V172F	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	196					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GGTATTGGAACCTAAAGAGGG	0.373																																																0			12											98.0	89.0	92.0					12																	96414915		2203	4300	6503	94939046	SO:0001630	splice_region_variant	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.586-1G>T	12.37:g.96414915C>A			94939046	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	"superfamily_Leukotriene A4 hydrolase N-terminal domain,HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain,superfamily_ARM repeat,HMMPfam_Leuk-A4-hydro_C"	p.V196F	ENST00000228740.2	37	c.586	CCDS9059.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041031	0.75732	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.04406	3.63;3.63;3.63	6.07	6.07	0.98685	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.20780	0.0500	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	T	0.00108	-1.2051	10	0.29301	T	0.29	-24.7069	20.6525	0.99598	0.0:1.0:0.0:0.0	.	172;172;196	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	F	196;172;172	ENSP00000228740:V196F;ENSP00000449958:V172F;ENSP00000395051:V172F	ENSP00000228740:V196F	V	-	1	0	LTA4H	94939046	1.000000	0.71417	0.997000	0.53966	0.283000	0.27025	5.784000	0.68990	2.890000	0.99128	0.585000	0.79938	GTT	-	superfamily_Leukotriene A4 hydrolase N-terminal domain,HMMPfam_Peptidase_M1		0.373	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA4H	protein_coding	OTTHUMT00000408655.1	C	NM_000895	Missense_Mutation	94939046	-1	no_errors	NM_000895	genbank	human	provisional	54_36p	missense	SNP	1.000	A
CPSF4	10898	genome.wustl.edu	37	7	99040601	99040601	+	Intron	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr7:99040601G>A	ENST00000292476.5	+	2	113				PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Intron|CPSF4_ENST00000436336.2_Intron|AC073063.1_ENST00000398089.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa						modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATCCCAAATCGCTCCTTCCTC	0.428																																																0			7																																								98878537	SO:0001627	intron_variant	0				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.104-1811G>A	7.37:g.99040601G>A			98878537	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	RNA	SNP	-	NULL	ENST00000292476.5	37	NULL	CCDS5664.1	7																																																																																			-	-		0.428	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100131859	protein_coding	OTTHUMT00000336254.1	G			98878537	-1	pseudogene	XR_039392	genbank	human	model	54_36p	rna	SNP	0.521	A
FBXL4	26235	genome.wustl.edu	37	6	99322166	99322166	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:99322166G>A	ENST00000369244.2	-	10	2282	c.1854C>T	c.(1852-1854)agC>agT	p.S618S	FBXL4_ENST00000229971.1_Silent_p.S618S	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	618					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ACTGAGTAAAGCTCTTTTTTA	0.323																																																0			6											78.0	81.0	80.0					6																	99322166		2203	4300	6503	99428887	SO:0001819	synonymous_variant	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1854C>T	6.37:g.99322166G>A			99428887	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047,HMMSmart_LRR_CC	p.S618	ENST00000369244.2	37	c.1854	CCDS5041.1	6																																																																																			-	NULL		0.323	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	protein_coding	OTTHUMT00000041587.2	G			99428887	-1	no_errors	NM_012160	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
DRP2	1821	genome.wustl.edu	37	X	100503565	100503565	+	Missense_Mutation	SNP	C	C	T	rs190868473		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chrX:100503565C>T	ENST00000395209.3	+	14	2044	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	DRP2_ENST00000402866.1_Missense_Mutation_p.T506M|DRP2_ENST00000538510.1_Missense_Mutation_p.T506M|DRP2_ENST00000541709.1_Missense_Mutation_p.T428M	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	506					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TTGTGTGGCACGGAAGTGAAG	0.458													C|||	2	0.000529801	0.0	0.0014	3775	,	,		16344	0.0		0.001	False		,,,				2504	0.0															0			X						C	MET/THR,MET/THR	0,3835		0,0,0,1632,571	222.0	202.0	209.0		1283,1517	5.0	1.0	X		209	2,6726		0,1,1,2427,1871	no	missense,missense	DRP2	NM_001171184.1,NM_001939.2	81,81	0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	possibly-damaging,possibly-damaging	428/880,506/958	100503565	2,10561	2203	4300	6503	100390221	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1517C>T	X.37:g.100503565C>T	ENSP00000378635:p.Thr506Met		100390221	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1	p.T506M	ENST00000395209.3	37	c.1517	CCDS14480.2	X	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.60	3.168979	0.57584	0.0	2.97E-4	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.05786	3.5;3.5;3.39;3.5	4.97	4.97	0.65823	.	0.050587	0.85682	D	0.000000	T	0.09247	0.0228	L	0.36672	1.1	0.33883	D	0.636434	D	0.56287	0.975	P	0.47470	0.548	T	0.10474	-1.0628	10	0.87932	D	0	-7.0022	13.1981	0.59752	0.0:0.8443:0.1557:0.0	.	506	Q13474	DRP2_HUMAN	M	506;506;428;506	ENSP00000385038:T506M;ENSP00000378635:T506M;ENSP00000444752:T428M;ENSP00000441051:T506M	ENSP00000378635:T506M	T	+	2	0	DRP2	100390221	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	4.694000	0.61760	2.046000	0.60703	0.513000	0.50165	ACG	-	superfamily_SSF47473		0.458	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	protein_coding	OTTHUMT00000057522.3	C	NM_001939		100390221	+1	no_errors	NM_001939	genbank	human	validated	54_36p	missense	SNP	0.996	T
MUC17	140453	genome.wustl.edu	37	7	100678300	100678300	+	Silent	SNP	T	T	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr7:100678300T>A	ENST00000306151.4	+	3	3667	c.3603T>A	c.(3601-3603)ccT>ccA	p.P1201P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1201	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCACCTCCTCCAACTGCTG	0.522																																																0			7											300.0	269.0	279.0					7																	100678300		2203	4300	6503	100465020	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3603T>A	7.37:g.100678300T>A			100465020	O14761|Q685J2|Q8TDH7	Silent	SNP	superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.P1201	ENST00000306151.4	37	c.3603	CCDS34711.1	7																																																																																			-	NULL		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	T	NM_001040105		100465020	+1	no_errors	NM_001040105	genbank	human	provisional	54_36p	silent	SNP	0.000	A
FILIP1L	11259	genome.wustl.edu	37	3	99569640	99569640	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:99569640C>G	ENST00000354552.3	-	5	1350	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	FILIP1L_ENST00000471562.1_Missense_Mutation_p.E54Q|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.E294Q|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E54Q|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	294						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTTGCAGTTCCTTCTCTAGT	0.473																																																0			3											301.0	292.0	295.0					3																	99569640		1984	4157	6141	101052330	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.880G>C	3.37:g.99569640C>G	ENSP00000346560:p.Glu294Gln		101052330	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	HMMPfam_CortBP2,superfamily_Prefoldin	p.E294Q	ENST00000354552.3	37	c.880	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430328	0.62844	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.31510	2.01;1.5;2.01;1.5;1.49	5.74	5.74	0.90152	.	0.118030	0.37530	N	0.002053	T	0.51295	0.1666	M	0.66939	2.045	0.43569	D	0.995898	D;D	0.69078	0.997;0.994	D;P	0.63957	0.92;0.833	T	0.34329	-0.9833	10	0.12430	T	0.62	-15.9708	19.9145	0.97053	0.0:1.0:0.0:0.0	.	294;294	Q4L180-2;Q4L180	.;FIL1L_HUMAN	Q	294;54;294;54;54;54	ENSP00000346560:E294Q;ENSP00000419642:E54Q;ENSP00000327880:E294Q;ENSP00000373192:E54Q;ENSP00000419874:E54Q	ENSP00000327880:E294Q	E	-	1	0	FILIP1L	101052330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.642000	0.67888	2.709000	0.92574	0.655000	0.94253	GAA	-	HMMPfam_CortBP2		0.473	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	protein_coding	OTTHUMT00000353069.1	C	NM_014890		101052330	-1	no_errors	NM_182909	genbank	human	validated	54_36p	missense	SNP	0.989	G
FNDC7	163479	genome.wustl.edu	37	1	109271309	109271309	+	Silent	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:109271309T>C	ENST00000370017.3	+	8	1702	c.1425T>C	c.(1423-1425)aaT>aaC	p.N475N	FNDC7_ENST00000271311.2_Silent_p.N476N	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	475	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CCATGATTAATGTGCACTGGC	0.433																																																0			1											115.0	103.0	107.0					1																	109271309		2203	4300	6503	109072832	SO:0001819	synonymous_variant	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1425T>C	1.37:g.109271309T>C			109072832	A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.N338	ENST00000370017.3	37	c.1014	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	T	0.036	-1.308433	0.01342	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.91	-10.1	0.00402	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60316	-0.7287	4	.	.	.	-0.2626	12.2925	0.54827	0.0:0.3067:0.0806:0.6127	.	.	.	.	R	251	.	.	C	+	1	0	FNDC7	109072832	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.013000	0.00646	-1.966000	0.01009	-1.259000	0.01468	TGT	-	HMMSmart_SM00060,superfamily_Fibronectin type III		0.433	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	protein_coding	OTTHUMT00000030589.4	T	NM_173532		109072832	+1	no_errors	ENST00000370017	ensembl	human	known	54_36p	silent	SNP	0.001	C
PLCXD2	257068	genome.wustl.edu	37	3	111426830	111426830	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:111426830A>G	ENST00000477665.1	+	2	545	c.221A>G	c.(220-222)cAa>cGa	p.Q74R	PLCXD2_ENST00000393934.3_Missense_Mutation_p.Q74R	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	74	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GGGCCTGACCAAACCCAAGCT	0.498																																																0			3											51.0	54.0	53.0					3																	111426830		2203	4300	6503	112909520	SO:0001583	missense	257068			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.221A>G	3.37:g.111426830A>G	ENSP00000420686:p.Gln74Arg		112909520	Q96N12	Missense_Mutation	SNP	superfamily_PLC-like_Pdiesterase_TIM-brl	p.Q74R	ENST00000477665.1	37	c.221	CCDS54619.1	3	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418626	0.83559	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.77	5.77	0.91146	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	.	.	.	.	T	0.75642	0.3877	M	0.65975	2.015	0.53688	D	0.999975	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.986	T	0.72836	-0.4172	8	0.26408	T	0.33	-11.5573	14.3292	0.66541	1.0:0.0:0.0:0.0	.	74;74	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	R	74	.	ENSP00000377511:Q74R	Q	+	2	0	PLCXD2	112909520	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	CAA	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.498	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	protein_coding	OTTHUMT00000354322.1	A	NM_153268		112909520	+1	no_errors	NM_153268	genbank	human	validated	54_36p	missense	SNP	1.000	G
PHLDB2	90102	genome.wustl.edu	37	3	111603300	111603300	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:111603300G>C	ENST00000431670.2	+	2	787	c.376G>C	c.(376-378)Gca>Cca	p.A126P	PHLDB2_ENST00000481953.1_Missense_Mutation_p.A126P|PHLDB2_ENST00000478922.1_Missense_Mutation_p.A126P|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A153P|PHLDB2_ENST00000393925.3_Missense_Mutation_p.A126P|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A126P|PHLDB2_ENST00000477695.1_Missense_Mutation_p.A126P	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	126						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACTTGGAAGAGCAGACTTTGA	0.443																																																0			3											186.0	201.0	196.0					3																	111603300		2203	4300	6503	113085990	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.376G>C	3.37:g.111603300G>C	ENSP00000405405:p.Ala126Pro		113085990	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.A126P	ENST00000431670.2	37	c.376	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722545	0.48728	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.39;1.37;1.38;1.39;1.37	5.76	0.926	0.19430	.	0.421096	0.26265	N	0.025370	T	0.27278	0.0669	N	0.19112	0.55	0.24354	N	0.994901	B;B;D;B;B	0.53151	0.167;0.007;0.958;0.256;0.437	B;B;P;B;B	0.51229	0.092;0.006;0.663;0.189;0.189	T	0.10965	-1.0607	10	0.52906	T	0.07	.	5.4687	0.16658	0.3697:0.1314:0.4989:0.0	.	126;126;126;126;153	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	P	153;153;126;126;126;126;126;126;126	ENSP00000377500:A153P;ENSP00000405405:A126P;ENSP00000405292:A126P;ENSP00000418296:A126P;ENSP00000377502:A126P;ENSP00000418319:A126P	ENSP00000352764:A153P	A	+	1	0	PHLDB2	113085990	0.636000	0.27207	0.364000	0.25888	0.733000	0.41908	0.668000	0.25127	-0.041000	0.13558	0.655000	0.94253	GCA	-	NULL		0.443	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	G	NM_145753		113085990	+1	no_errors	NM_145753	genbank	human	validated	54_36p	missense	SNP	0.994	C
CAMK2D	817	genome.wustl.edu	37	4	114378595	114378595	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:114378595C>T	ENST00000342666.5	-	17	1328	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	CAMK2D_ENST00000508738.1_Missense_Mutation_p.M454I|CAMK2D_ENST00000394524.3_Missense_Mutation_p.M443I|CAMK2D_ENST00000511664.1_Missense_Mutation_p.M477I|CAMK2D_ENST00000429180.1_Missense_Mutation_p.M463I|CAMK2D_ENST00000505990.1_Missense_Mutation_p.M477I|CAMK2D_ENST00000394526.2_Missense_Mutation_p.M454I|CAMK2D_ENST00000379773.2_Missense_Mutation_p.M443I|CAMK2D_ENST00000296402.5_Missense_Mutation_p.M443I|CAMK2D_ENST00000454265.2_Missense_Mutation_p.M468I|CAMK2D_ENST00000515496.1_Missense_Mutation_p.M454I|CAMK2D_ENST00000514328.1_Missense_Mutation_p.M442I|CAMK2D_ENST00000394522.3_Missense_Mutation_p.M457I|CAMK2D_ENST00000418639.2_Missense_Mutation_p.M457I			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	443					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTGTCTTTGGCATTCCACTGC	0.493																																																0			4											183.0	170.0	175.0					4																	114378595		2203	4300	6503	114598044	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1329G>A	4.37:g.114378595C>T	ENSP00000339740:p.Met443Ile		114598044	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_CaMKII_AD	p.M443I	ENST00000342666.5	37	c.1329	CCDS3703.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.539182|3.539182	0.65085|0.65085	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000513132|ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.40476	.|1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34308|0.34308	0.0893|0.0893	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.06405	.|0.002;0.002;0.001;0.001;0.002	T|T	0.04678|0.04678	-1.0934|-1.0934	5|10	.|0.31617	.|T	.|0.26	.|.	20.3396|20.3396	0.98756|0.98756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|477;454;457;443;443	.|E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.|.;.;.;.;KCC2D_HUMAN	T|I	147|443;468;463;457;454;443;477;443;454;442;457;477;443;454	.|ENSP00000378032:M443I;ENSP00000415248:M468I;ENSP00000415707:M463I;ENSP00000406131:M457I;ENSP00000378034:M454I;ENSP00000296402:M443I;ENSP00000425824:M477I;ENSP00000339740:M443I;ENSP00000423482:M454I;ENSP00000423677:M442I;ENSP00000378030:M457I;ENSP00000424245:M477I;ENSP00000369098:M443I;ENSP00000422566:M454I	.|ENSP00000296402:M443I	A|M	-|-	1|3	0|0	CAMK2D|CAMK2D	114598044|114598044	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.947000|0.947000	0.59692|0.59692	7.437000|7.437000	0.80417|0.80417	2.812000|2.812000	0.96745|0.96745	0.555000|0.555000	0.69702|0.69702	GCC|ATG	-	superfamily_Protein kinase-like (PK-like),HMMPfam_CaMKII_AD		0.493	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	CAMK2D	protein_coding	OTTHUMT00000256420.2	C			114598044	-1	no_errors	NM_001221	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PNLIPRP2	5408	genome.wustl.edu	37	10	118401647	118401647	+	RNA	SNP	A	A	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr10:118401647A>G	ENST00000298771.7	+	0	1225				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AACCAGATGCAAGTCACACGT	0.348																																																0			10											48.0	47.0	47.0					10																	118401647		1862	4092	5954	118391637			5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118401647A>G			118391637	A8K627|Q6IB55	Missense_Mutation	SNP	NULL	p.Q401R	ENST00000298771.7	37	c.1202		10																																																																																			-	NULL		0.348	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	polymorphic_pseudogene	OTTHUMT00000050546.6	A	NM_005396		118391637	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_005396	genbank	human	validated	54_36p	missense	SNP	0.003	G
COL14A1	7373	genome.wustl.edu	37	8	121298171	121298171	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr8:121298171C>A	ENST00000297848.3	+	33	4309	c.4039C>A	c.(4039-4041)Cct>Act	p.P1347T	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1347T|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1252T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCGAAGGACCTGAAATTAG	0.294																																																0			8											56.0	59.0	58.0					8																	121298171		2202	4297	6499	121367352	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4039C>A	8.37:g.121298171C>A	ENSP00000297848:p.Pro1347Thr		121367352		Missense_Mutation	SNP	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen	p.P1347T	ENST00000297848.3	37	c.4039	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	12.61	1.991087	0.35131	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.13089	2.62;2.62;2.62	4.86	4.86	0.63082	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.157533	0.64402	D	0.000020	T	0.35364	0.0929	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02444	-1.1158	10	0.30854	T	0.27	.	18.3432	0.90313	0.0:1.0:0.0:0.0	.	1347	Q05707	COEA1_HUMAN	T	1347;1347;1252	ENSP00000311809:P1347T;ENSP00000297848:P1347T;ENSP00000247781:P1252T	ENSP00000247781:P1252T	P	+	1	0	COL14A1	121367352	0.987000	0.35691	1.000000	0.80357	0.924000	0.55760	3.778000	0.55371	2.418000	0.82041	0.455000	0.32223	CCT	-	HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases		0.294	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	protein_coding	OTTHUMT00000313657.2	C	NM_021110		121367352	+1	no_errors	NM_021110	genbank	human	validated	54_36p	missense	SNP	1.000	A
QRFPR	84109	genome.wustl.edu	37	4	122250856	122250856	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:122250856C>A	ENST00000394427.2	-	6	1320	c.909G>T	c.(907-909)aaG>aaT	p.K303N	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	303					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CATCATATTCCTTTTCAAAAT	0.289																																																0			4											23.0	24.0	24.0					4																	122250856		2197	4294	6491	122470306	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.909G>T	4.37:g.122250856C>A	ENSP00000377948:p.Lys303Asn		122470306		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.K303N	ENST00000394427.2	37	c.909	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	9.006	0.981403	0.18812	.	.	ENSG00000186867	ENST00000394427	T	0.73047	-0.71	5.47	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.403092	0.29410	N	0.012221	T	0.44705	0.1306	N	0.12611	0.24	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.21586	-1.0241	10	0.12766	T	0.61	.	4.9202	0.13865	0.1363:0.5279:0.2566:0.0791	.	303	Q96P65	QRFPR_HUMAN	N	303	ENSP00000377948:K303N	ENSP00000377948:K303N	K	-	3	2	QRFPR	122470306	0.096000	0.21769	0.997000	0.53966	0.930000	0.56654	-0.152000	0.10159	1.280000	0.44463	0.491000	0.48974	AAG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.289	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	protein_coding	OTTHUMT00000256641.2	C	NM_198179		122470306	-1	no_errors	NM_198179	genbank	human	validated	54_36p	missense	SNP	0.991	A
EIF2B1	1967	genome.wustl.edu	37	12	124106399	124106399	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:124106399G>A	ENST00000424014.2	-	9	1030	c.822C>T	c.(820-822)gaC>gaT	p.D274D	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	274					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGGCAGTGTAGTCGACCCACG	0.527																																																0			12											164.0	102.0	123.0					12																	124106399		2203	4300	6503	122672352	SO:0001819	synonymous_variant	1967			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.822C>T	12.37:g.124106399G>A			122672352	A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	superfamily_NagB/RpiA/CoA transferase-like,HMMPfam_IF-2B	p.D274	ENST00000424014.2	37	c.822	CCDS31924.1	12																																																																																			-	superfamily_NagB/RpiA/CoA transferase-like,HMMPfam_IF-2B		0.527	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	protein_coding	OTTHUMT00000400628.1	G	NM_001414		122672352	-1	no_errors	NM_001414	genbank	human	validated	54_36p	silent	SNP	1.000	A
ARHGAP36	158763	genome.wustl.edu	37	X	130220600	130220600	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chrX:130220600C>T	ENST00000276211.5	+	11	1792	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R347W|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R471W	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	483					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTGAAGCCCGGGCTGCTGT	0.512																																																0			X											96.0	85.0	89.0					X																	130220600		2203	4300	6503	130048281	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1447C>T	X.37:g.130220600C>T	ENSP00000276211:p.Arg483Trp		130048281	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP	p.R483W	ENST00000276211.5	37	c.1447	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	1.038	-0.679766	0.03353	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.12255	2.7;2.71;2.72;2.72	4.32	1.52	0.23074	.	0.865783	0.09828	N	0.750599	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37407	-0.9707	10	0.48119	T	0.1	.	4.3476	0.11139	0.0:0.4249:0.3636:0.2115	.	452;471;483	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	W	483;471;452;347	ENSP00000276211:R483W;ENSP00000359960:R471W;ENSP00000408515:R452W;ENSP00000359959:R347W	ENSP00000276211:R483W	R	+	1	2	ARHGAP36	130048281	0.016000	0.18221	0.000000	0.03702	0.079000	0.17450	0.505000	0.22642	0.178000	0.19917	-0.225000	0.12378	CGG	-	NULL		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ30058	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130048281	+1	no_errors	NM_144967	genbank	human	validated	54_36p	missense	SNP	0.447	T
DOLK	22845	genome.wustl.edu	37	9	131709243	131709243	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr9:131709243C>T	ENST00000372586.3	-	1	655	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	114					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GTGGCTGCCACCACAATGCCA	0.577																																																0			9											47.0	47.0	47.0					9																	131709243		2203	4300	6503	130749064	SO:0001583	missense	22845			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.340G>A	9.37:g.131709243C>T	ENSP00000361667:p.Val114Met		130749064	Q5SRE6	Missense_Mutation	SNP	NULL	p.V114M	ENST00000372586.3	37	c.340	CCDS6915.1	9	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743700	0.69418	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.85411	-1.98	5.64	5.64	0.86602	.	0.089505	0.43579	D	0.000550	D	0.86698	0.5995	L	0.58101	1.795	0.42855	D	0.994099	P	0.52061	0.95	P	0.51355	0.667	D	0.87781	0.2612	10	0.72032	D	0.01	-4.3732	12.0682	0.53601	0.0:0.9221:0.0:0.0779	.	114	Q9UPQ8	DOLK_HUMAN	M	114	ENSP00000361667:V114M	ENSP00000361667:V114M	V	-	1	0	DOLK	130749064	0.959000	0.32827	1.000000	0.80357	0.989000	0.77384	2.074000	0.41529	2.655000	0.90218	0.462000	0.41574	GTG	-	NULL		0.577	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	protein_coding	OTTHUMT00000054515.1	C	NM_014908		130749064	-1	no_errors	NM_014908	genbank	human	validated	54_36p	missense	SNP	1.000	T
COL6A5	256076	genome.wustl.edu	37	3	130162400	130162400	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:130162400G>A	ENST00000432398.2	+	36	7062	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	COL6A5_ENST00000265379.6_Missense_Mutation_p.D2190N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2190	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TATTCAAAATGATGGTTTCCA	0.383																																																0			3											66.0	63.0	64.0					3																	130162400		1852	4100	5952	131645090	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6568G>A	3.37:g.130162400G>A	ENSP00000390895:p.Asp2190Asn		131645090	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	HMMSmart_VWA,superfamily_SSF53300,HMMPfam_VWA	p.D229N	ENST00000432398.2	37	c.685		3	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850832	0.17034	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;T	0.88664	-2.33;-2.41;-0.83;-0.67	4.35	-8.69	0.00855	.	1.469850	0.04571	N	0.393346	T	0.75810	0.3900	L	0.33485	1.01	0.09310	N	1	B;B	0.25169	0.033;0.119	B;B	0.21917	0.01;0.037	T	0.63523	-0.6618	10	0.17369	T	0.5	.	1.8715	0.03209	0.3126:0.2276:0.3461:0.1137	.	2190;2190	A8TX70;A8TX70-2	CO6A5_HUMAN;.	N	2190;2190;133;25	ENSP00000390895:D2190N;ENSP00000265379:D2190N;ENSP00000362250:D133N;ENSP00000424968:D25N	ENSP00000265379:D2190N	D	+	1	0	COL6A5	131645090	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.181000	0.03085	-1.805000	0.01239	0.544000	0.68410	GAT	-	NULL		0.383	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL29A1	protein_coding		G	NM_153264		131645090	+1	no_errors	NM_153264	genbank	human	validated	54_36p	missense	SNP	0.000	A
LATS1	9113	genome.wustl.edu	37	6	149997787	149997787	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:149997787A>T	ENST00000543571.1	-	6	3227	c.2680T>A	c.(2680-2682)Tta>Ata	p.L894I	LATS1_ENST00000253339.5_Missense_Mutation_p.L894I|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTCCGCTCTAATGGCTTCAGT	0.498																																																0			6											73.0	67.0	69.0					6																	149997787		2203	4300	6503	150039480	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2680T>A	6.37:g.149997787A>T	ENSP00000437550:p.Leu894Ile		150039480		Missense_Mutation	SNP	superfamily_UBA-like,HMMPfam_UBA,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C	p.L894I	ENST00000543571.1	37	c.2680	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171749	0.78452	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.56941	0.43;0.43	5.81	3.08	0.35506	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000372	T	0.34861	0.0912	L	0.46741	1.465	0.80722	D	1	P	0.47253	0.892	P	0.47251	0.542	T	0.08207	-1.0733	9	.	.	.	.	10.6936	0.45886	0.2092:0.0:0.7908:0.0	.	894	O95835	LATS1_HUMAN	I	894	ENSP00000437550:L894I;ENSP00000253339:L894I	.	L	-	1	2	LATS1	150039480	1.000000	0.71417	0.683000	0.30040	0.957000	0.61999	3.317000	0.51968	0.374000	0.24650	-0.242000	0.12053	TTA	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.498	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	protein_coding	OTTHUMT00000043923.4	A	NM_004690		150039480	-1	no_errors	NM_004690	genbank	human	reviewed	54_36p	missense	SNP	0.991	T
DAP3	7818	genome.wustl.edu	37	1	155701156	155701156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:155701156G>T	ENST00000368336.5	+	10	977	c.853G>T	c.(853-855)Gag>Tag	p.E285*	DAP3_ENST00000535183.1_Nonsense_Mutation_p.E244*|DAP3_ENST00000471642.2_Nonsense_Mutation_p.E244*|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Nonsense_Mutation_p.E251*|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Nonsense_Mutation_p.E285*	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	285					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GATTGCCCCCGAGGAATTAGC	0.358																																																0			1											139.0	131.0	134.0					1																	155701156		2203	4300	6503	153967780	SO:0001587	stop_gained	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.853G>T	1.37:g.155701156G>T	ENSP00000357320:p.Glu285*		153967780	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Nonsense_Mutation	SNP	HMMPfam_DAP3	p.E285*	ENST00000368336.5	37	c.853	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082987	0.76642	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.8461	17.4665	0.87634	0.0:0.0:1.0:0.0	.	.	.	.	X	285;285;251;244	.	ENSP00000341692:E285X	E	+	1	0	DAP3	153967780	1.000000	0.71417	0.972000	0.41901	0.714000	0.41099	7.233000	0.78125	2.644000	0.89710	0.563000	0.77884	GAG	-	HMMPfam_DAP3		0.358	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	protein_coding	OTTHUMT00000086042.1	G	NM_004632		153967780	+1	no_errors	NM_004632	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
SYT11	23208	genome.wustl.edu	37	1	155838133	155838133	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:155838133A>T	ENST00000368324.4	+	2	665	c.412A>T	c.(412-414)Agc>Tgc	p.S138C	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	138					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)			CCCTATTACAAGCCTGACCCC	0.502																																																0			1											105.0	105.0	105.0					1																	155838133		2203	4300	6503	154104757	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.412A>T	1.37:g.155838133A>T	ENSP00000357307:p.Ser138Cys		154104757	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2	p.S138C	ENST00000368324.4	37	c.412	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903454	0.72754	.	.	ENSG00000132718	ENST00000368324	T	0.50277	0.75	5.35	4.22	0.49857	.	0.157704	0.64402	D	0.000014	T	0.46425	0.1392	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.51702	-0.8672	10	0.66056	D	0.02	.	9.3822	0.38320	0.9188:0.0:0.0812:0.0	.	138	Q9BT88	SYT11_HUMAN	C	138	ENSP00000357307:S138C	ENSP00000357307:S138C	S	+	1	0	SYT11	154104757	1.000000	0.71417	0.786000	0.31890	0.984000	0.73092	6.202000	0.72131	1.054000	0.40438	0.533000	0.62120	AGC	-	NULL		0.502	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	protein_coding	OTTHUMT00000039597.1	A	NM_152280		154104757	+1	no_errors	NM_152280	genbank	human	validated	54_36p	missense	SNP	0.949	T
LPA	4018	genome.wustl.edu	37	6	161032737	161032737	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:161032737C>A	ENST00000316300.5	-	16	2504	c.2460G>T	c.(2458-2460)agG>agT	p.R820S	LPA_ENST00000447678.1_Missense_Mutation_p.R820S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3328	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCACCCCAGGCCTCTGCTCAG	0.458																																																0			6											62.0	67.0	65.0					6																	161032737		1074	2340	3414	160952727	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2460G>T	6.37:g.161032737C>A	ENSP00000321334:p.Arg820Ser		160952727	Q5VTD7|Q9UD88	Missense_Mutation	SNP	superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.R820S	ENST00000316300.5	37	c.2460	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.599106	0.00857	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61510	0.1;0.1	2.17	-4.34	0.03666	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.14184	0.0343	N	0.01576	-0.805	0.09310	N	1	D	0.58268	0.982	D	0.64687	0.928	T	0.10706	-1.0618	9	0.09843	T	0.71	.	0.4915	0.00565	0.2059:0.2161:0.3507:0.2272	.	3328	P08519	APOA_HUMAN	S	820	ENSP00000321334:R820S;ENSP00000395608:R820S	ENSP00000321334:R820S	R	-	3	2	LPA	160952727	0.014000	0.17966	0.352000	0.25734	0.032000	0.12392	-1.432000	0.02430	-1.163000	0.02793	0.194000	0.17425	AGG	-	superfamily_Kringle-like		0.458	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	protein_coding	OTTHUMT00000042957.1	C	NM_005577		160952727	-1	no_errors	NM_005577	genbank	human	validated	54_36p	missense	SNP	0.564	A
TENM2	57451	genome.wustl.edu	37	5	167689607	167689607	+	Missense_Mutation	SNP	C	C	T	rs200019261		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:167689607C>T	ENST00000518659.1	+	29	8156	c.8117C>T	c.(8116-8118)aCg>aTg	p.T2706M	TENM2_ENST00000545108.1_Missense_Mutation_p.T2705M|TENM2_ENST00000519204.1_Missense_Mutation_p.T2585M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2467M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2530M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2706					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GCCCTGGGCACGGCCTGGGCC	0.687																																																0			5						C	MET/THR	1,3977		0,1,1988	11.0	12.0	12.0		8090	4.4	1.0	5		12	5,8277		0,5,4136	yes	missense	ODZ2	NM_001122679.1	81	0,6,6124	TT,TC,CC		0.0604,0.0251,0.0489	benign	2697/2766	167689607	6,12254	1989	4141	6130	167622185	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.8117C>T	5.37:g.167689607C>T	ENSP00000429430:p.Thr2706Met		167622185	Q9ULU2	Missense_Mutation	SNP	HMMPfam_Ten_N,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain,superfamily_NHL repeat,HMMPfam_NHL,HMMPfam_RHS_repeat	p.T2705M	ENST00000518659.1	37	c.8114		5	.	.	.	.	.	.	.	.	.	.	C	9.066	0.995675	0.19043	2.51E-4	6.04E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89343	-2.03;-2.02;-2.13;-2.49;-2.5	5.25	4.37	0.52481	.	0.396138	0.28635	N	0.014653	T	0.80019	0.4547	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31009	0.303;0.201;0.096	B;B;B	0.26517	0.07;0.032;0.034	T	0.72656	-0.4227	10	0.49607	T	0.09	.	11.0332	0.47785	0.0:0.8566:0.0:0.1434	.	2705;2706;2467	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2706;2705;2585;2467;2530	ENSP00000429430:T2706M;ENSP00000438635:T2705M;ENSP00000428964:T2585M;ENSP00000427874:T2467M;ENSP00000384905:T2530M	ENSP00000384905:T2530M	T	+	2	0	ODZ2	167622185	0.517000	0.26226	0.988000	0.46212	0.995000	0.86356	2.610000	0.46325	2.620000	0.88729	0.561000	0.74099	ACG	-	NULL		0.687	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167622185	+1	no_errors	ENST00000388903	ensembl	human	known	54_36p	missense	SNP	0.126	T
METTL13	51603	genome.wustl.edu	37	1	171765792	171765792	+	Silent	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:171765792C>T	ENST00000361735.3	+	8	2262	c.1996C>T	c.(1996-1998)Cta>Tta	p.L666L	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.L580L|METTL13_ENST00000367737.5_Silent_p.L510L|METTL13_ENST00000458517.1_Silent_p.L665L	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	666							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ACCAGAGCTCCTAGAAACAGC	0.522																																																0			1											100.0	102.0	101.0					1																	171765792		2203	4300	6503	170032415	SO:0001819	synonymous_variant	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1996C>T	1.37:g.171765792C>T			170032415	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_11	p.L666	ENST00000361735.3	37	c.1996	CCDS1299.1	1																																																																																			-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.522	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	protein_coding	OTTHUMT00000084528.5	C	NM_014955		170032415	+1	no_errors	NM_015935	genbank	human	validated	54_36p	silent	SNP	0.338	T
TTN	7273	genome.wustl.edu	37	2	179419687	179419687	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:179419687A>T	ENST00000591111.1	-	281	83800	c.83576T>A	c.(83575-83577)aTc>aAc	p.I27859N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I20627N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I29500N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I20560N|TTN_ENST00000460472.2_Missense_Mutation_p.I20435N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I26932N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27859	Ig-like 130.				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)			GGCATCTTTGATGAGTATAGA	0.433																																																0			2											88.0	82.0	84.0					2																	179419687		1911	4125	6036	179127933	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.83576T>A	2.37:g.179419687A>T	ENSP00000465570:p.Ile27859Asn		179127933	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	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.I25481N	ENST00000591111.1	37	c.76442		2	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841936	0.71488	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91486	0.7312	M	0.92367	3.3	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.64877	0.93;0.93;0.93;0.93	D	0.93466	0.6815	9	0.87932	D	0	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	20435;20560;20627;27859	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	26932;20435;20627;20560;20432	ENSP00000343764:I26932N;ENSP00000434586:I20435N;ENSP00000340554:I20627N;ENSP00000352154:I20560N	ENSP00000340554:I20627N	I	-	2	0	TTN	179127933	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.287000	0.95975	2.279000	0.76181	0.533000	0.62120	ATC	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179127933	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	T
SORBS2	8470	genome.wustl.edu	37	4	186544080	186544080	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:186544080C>T	ENST00000284776.7	-	13	3000	c.2491G>A	c.(2491-2493)Ggt>Agt	p.G831S	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.G931S|SORBS2_ENST00000431808.1_Missense_Mutation_p.G831S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.G735S|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	831					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.G831S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGGAGTGCACCGCCACGGTCT	0.537																																					Esophageal Squamous(153;41 2433 9491 36028)											1	Substitution - Missense(1)	large_intestine(1)	4											62.0	66.0	65.0					4																	186544080		2203	4300	6503	186781074	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2491G>A	4.37:g.186544080C>T	ENSP00000284776:p.Gly831Ser		186781074	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.G831S	ENST00000284776.7	37	c.2491	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.918154	0.00503	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.34072	1.48;1.48;1.38;1.48	5.92	-4.77	0.03219	.	1.152020	0.05933	N	0.635499	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.31475	-0.9942	10	0.11485	T	0.65	-0.9885	8.4459	0.32841	0.0871:0.2149:0.0:0.698	.	735;931;831	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	831;831;735;931	ENSP00000284776:G831S;ENSP00000411764:G831S;ENSP00000397482:G735S;ENSP00000347852:G931S	ENSP00000284776:G831S	G	-	1	0	SORBS2	186781074	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.338000	0.19858	-0.783000	0.04534	-0.224000	0.12420	GGT	-	NULL		0.537	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	C	NM_003603		186781074	-1	no_errors	NM_021069	genbank	human	reviewed	54_36p	missense	SNP	0.002	T
COL5A2	1290	genome.wustl.edu	37	2	189932953	189932953	+	Splice_Site	SNP	G	G	A	rs145850743	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:189932953G>A	ENST00000374866.3	-	20	1575	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	434					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGTACTCACCGTTGGGCCTTT	0.408													G|||	2	0.000399361	0.0	0.0	5008	,	,		19713	0.0		0.0	False		,,,				2504	0.002															0			2						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	156.0	149.0	151.0		1301	4.3	0.9	2	dbSNP_134	151	23,8577	16.6+/-54.9	0,23,4277	yes	missense-near-splice	COL5A2	NM_000393.3	81	0,24,6479	AA,AG,GG		0.2674,0.0227,0.1845	probably-damaging	434/1500	189932953	24,12982	2203	4300	6503	189641198	SO:0001630	splice_region_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1302+1C>T	2.37:g.189932953G>A			189641198	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI	p.T434M	ENST00000374866.3	37	c.1301	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360796	0.41801	2.27E-4	0.002674	ENSG00000204262	ENST00000374866	D	0.94376	-3.41	5.22	4.35	0.52113	.	0.000000	0.56097	D	0.000035	D	0.86598	0.5971	N	0.17872	0.535	0.40783	D	0.98319	B	0.18013	0.025	B	0.15484	0.013	T	0.81879	-0.0730	9	.	.	.	.	13.8077	0.63243	0.0732:0.0:0.9268:0.0	.	434	P05997	CO5A2_HUMAN	M	434	ENSP00000364000:T434M	.	T	-	2	0	COL5A2	189641198	1.000000	0.71417	0.875000	0.34327	0.514000	0.34195	3.494000	0.53273	1.442000	0.47568	-0.218000	0.12543	ACG	-	HMMPfam_Collagen		0.408	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	protein_coding	OTTHUMT00000313523.1	G	NM_000393	Missense_Mutation	189641198	-1	no_errors	NM_000393	genbank	human	reviewed	54_36p	missense	SNP	0.949	A
CACNA1S	779	genome.wustl.edu	37	1	201047051	201047051	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:201047051G>A	ENST00000362061.3	-	11	1801	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	CACNA1S_ENST00000367338.3_Silent_p.S525S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	525					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCGGAGCACGGAGATGCCCA	0.627																																																0			1											69.0	55.0	59.0					1																	201047051		2203	4300	6503	199313674	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1575C>T	1.37:g.201047051G>A			199313674	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ	p.S525	ENST00000362061.3	37	c.1575	CCDS1407.1	1																																																																																			-	superfamily_SSF81324,HMMPfam_Ion_trans		0.627	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	G	NM_000069		199313674	-1	no_errors	NM_000069	genbank	human	reviewed	54_36p	silent	SNP	0.995	A
CASP8	841	genome.wustl.edu	37	2	202150037	202150037	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:202150037C>T	ENST00000432109.2	+	9	1490	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	CASP8_ENST00000264274.9_Missense_Mutation_p.P350L|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.P451L|CASP8_ENST00000323492.7_Missense_Mutation_p.P419L|CASP8_ENST00000358485.4_Missense_Mutation_p.P493L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	434					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|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 extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGCGATGTCCTCGGTAAGTT	0.502										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)											0			2											87.0	78.0	81.0					2																	202150037		2203	4300	6503	201858282	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1301C>T	2.37:g.202150037C>T	ENSP00000412523:p.Pro434Leu		201858282	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	superfamily_DEATH domain,HMMSmart_SM00031,HMMPfam_DED,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS	p.P493L	ENST00000432109.2	37	c.1478	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591092	0.46214	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.37	4.49	0.54785	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.188460	0.45126	D	0.000393	T	0.37705	0.1013	M	0.82132	2.575	0.80722	D	1	P;P;B;B;P	0.45240	0.854;0.793;0.012;0.313;0.793	B;P;B;B;P	0.50136	0.27;0.632;0.034;0.147;0.632	T	0.25779	-1.0122	10	0.52906	T	0.07	.	13.4503	0.61167	0.0:0.9233:0.0:0.0767	.	350;493;434;419;451	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	L	419;350;434;451;493;419;213	ENSP00000376091:P419L;ENSP00000264274:P350L;ENSP00000412523:P434L;ENSP00000264275:P451L;ENSP00000351273:P493L;ENSP00000325722:P419L;ENSP00000394434:P213L	ENSP00000264274:P350L	P	+	2	0	CASP8	201858282	0.969000	0.33509	1.000000	0.80357	0.810000	0.45777	2.256000	0.43231	2.506000	0.84524	0.561000	0.74099	CCT	-	superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14		0.502	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	protein_coding	OTTHUMT00000336853.2	C	NM_001228		201858282	+1	no_errors	NM_001080125	genbank	human	reviewed	54_36p	missense	SNP	0.997	T
KCNH1	3756	genome.wustl.edu	37	1	211192544	211192544	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:211192544T>A	ENST00000271751.4	-	6	640	c.613A>T	c.(613-615)Act>Tct	p.T205S	KCNH1_ENST00000367007.4_Missense_Mutation_p.T205S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	205					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGAGGGGGAGTCTTTGGTGCC	0.428																																																0			1											72.0	75.0	74.0					1																	211192544		2203	4300	6503	209259167	SO:0001583	missense	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.613A>T	1.37:g.211192544T>A	ENSP00000271751:p.Thr205Ser		209259167	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	superfamily_PYP-like sensor domain (PAS domain),HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding	p.T205S	ENST00000271751.4	37	c.613	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065598	0.76187	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98947	-5.18;-5.26	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	M	0.72353	2.195	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.99581	1.0973	10	0.56958	D	0.05	.	13.8759	0.63653	0.0:0.0:0.0:1.0	.	205;205	Q14CL3;O95259	.;KCNH1_HUMAN	S	205	ENSP00000271751:T205S;ENSP00000355974:T205S	ENSP00000271751:T205S	T	-	1	0	KCNH1	209259167	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.689000	0.84165	1.885000	0.54596	0.379000	0.24179	ACT	-	NULL		0.428	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	protein_coding	OTTHUMT00000088332.1	T	NM_002238		209259167	-1	no_errors	NM_172362	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MAP2	4133	genome.wustl.edu	37	2	210518115	210518115	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:210518115G>A	ENST00000360351.4	+	4	727	c.221G>A	c.(220-222)gGg>gAg	p.G74E	MAP2_ENST00000392194.1_Missense_Mutation_p.G74E|MAP2_ENST00000199940.6_Missense_Mutation_p.G74E|MAP2_ENST00000447185.1_Missense_Mutation_p.G74E|MAP2_ENST00000361559.4_Missense_Mutation_p.G74E	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	74					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAGAGAATGGGATCAACGGA	0.498																																					Pancreas(27;423 979 28787 29963)											0			2											103.0	103.0	103.0					2																	210518115		2203	4300	6503	210226360	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.221G>A	2.37:g.210518115G>A	ENSP00000353508:p.Gly74Glu		210226360	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	HMMPfam_RII_binding_1,HMMPfam_MAP2_projctn,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP	p.G74E	ENST00000360351.4	37	c.221	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230194	0.79688	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000030	T	0.34395	0.0896	L	0.27053	0.805	0.52099	D	0.99994	D;D;P;D;D;P	0.89917	0.995;1.0;0.839;1.0;0.995;0.682	P;D;P;D;P;B	0.91635	0.86;0.999;0.457;0.994;0.728;0.186	T	0.02758	-1.1114	10	0.02654	T	1	-15.1589	17.9193	0.88961	0.0:0.0:1.0:0.0	.	74;74;75;74;74;74	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	E	74	ENSP00000199940:G74E;ENSP00000376031:G74E;ENSP00000353508:G74E;ENSP00000355290:G74E;ENSP00000409969:G74E;ENSP00000376032:G74E;ENSP00000392164:G74E	ENSP00000199940:G74E	G	+	2	0	MAP2	210226360	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.744000	0.74854	2.471000	0.83476	0.643000	0.83706	GGG	-	NULL		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210226360	+1	no_errors	NM_002374	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
EPHX1	2052	genome.wustl.edu	37	1	226026529	226026529	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:226026529T>A	ENST00000366837.4	+	4	735	c.539T>A	c.(538-540)gTc>gAc	p.V180D	EPHX1_ENST00000272167.5_Missense_Mutation_p.V180D|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	180					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTTTTTGAAGTCATCTGCCCT	0.562																																																0			1											125.0	108.0	114.0					1																	226026529		2203	4300	6503	224093152	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.539T>A	1.37:g.226026529T>A	ENSP00000355802:p.Val180Asp		224093152	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	superfamily_SSF53474,HMMPfam_EHN,HMMPfam_Abhydrolase_1	p.V180D	ENST00000366837.4	37	c.539	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.995066	0.93167	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.08634	3.07;3.07	5.69	5.69	0.88448	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63800	-0.6555	9	.	.	.	-13.1241	15.9404	0.79750	0.0:0.0:0.0:1.0	.	180	P07099	HYEP_HUMAN	D	180	ENSP00000272167:V180D;ENSP00000355802:V180D	.	V	+	2	0	EPHX1	224093152	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.942000	0.87708	2.171000	0.68590	0.459000	0.35465	GTC	-	superfamily_SSF53474,HMMPfam_Abhydrolase_1		0.562	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	protein_coding	OTTHUMT00000092064.1	T	NM_000120		224093152	+1	no_errors	NM_000120	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NEU2	4759	genome.wustl.edu	37	2	233899079	233899079	+	Missense_Mutation	SNP	G	G	A	rs113887175	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:233899079G>A	ENST00000233840.3	+	2	455	c.455G>A	c.(454-456)cGg>cAg	p.R152Q		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	152					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCAGCCTACCGGGAGTGGTCC	0.657													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16736	0.0		0.0	False		,,,				2504	0.0															0			2						G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	42.0	46.0	45.0		455	-4.4	0.0	2	dbSNP_132	45	0,8600		0,0,4300	yes	missense	NEU2	NM_005383.2	43	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	152/381	233899079	5,13001	2203	4300	6503	233607323	SO:0001583	missense	4759			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.455G>A	2.37:g.233899079G>A	ENSP00000233840:p.Arg152Gln		233607323	Q3KNW4|Q6NTB4	Missense_Mutation	SNP	superfamily_Sialidase	p.R152Q	ENST00000233840.3	37	c.455	CCDS2501.1	2	.	.	.	.	.	.	.	.	.	.	G	5.033	0.191749	0.09547	0.001135	0.0	ENSG00000115488	ENST00000233840	D	0.84146	-1.81	4.88	-4.4	0.03600	Neuraminidase (2);	1.026890	0.07775	N	0.952359	T	0.66761	0.2822	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52771	-0.8531	10	0.13470	T	0.59	-8.7639	13.1559	0.59516	0.4442:0.0:0.5558:0.0	.	152	Q9Y3R4	NEUR2_HUMAN	Q	152	ENSP00000233840:R152Q	ENSP00000233840:R152Q	R	+	2	0	NEU2	233607323	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.280000	0.02804	-0.718000	0.04949	-1.384000	0.01168	CGG	-	superfamily_Sialidase		0.657	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU2	protein_coding	OTTHUMT00000257053.2	G	NM_005383		233607323	+1	no_errors	NM_005383	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
KRT10	3858	genome.wustl.edu	37	17	38975308	38975319	+	In_Frame_Del	DEL	GCCGCCGTGGCC	GCCGCCGTGGCC	-			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	GCCGCCGTGGCC	GCCGCCGTGGCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr17:38975308_38975319delGCCGCCGTGGCC	ENST00000269576.5	-	7	1477_1488	c.1468_1479delGGCCACGGCGGC	c.(1468-1479)ggccacggcggcdel	p.GHGG490del	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	490	Gly-rich.|Ser-rich.|Tail.			Missing (in Ref. 8; AAA59199). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				cgccggaactgccgccgtggccgccgccgtgg	0.783																																																0			17								48,88		23,2,43						2.4	0.2			1	241,217		113,15,101	no	coding	KRT10	NM_000421.3		136,17,144	A1A1,A1R,RR		47.3799,35.2941,48.6532				289,305				36228845	SO:0001651	inframe_deletion	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1468_1479delGGCCACGGCGGC	17.37:g.38975308_38975319delGCCGCCGTGGCC	ENSP00000269576:p.Gly490_Gly493del		36228834	Q14664|Q8N175	In_Frame_Del	DEL	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.GHGG490in_frame_del	ENST00000269576.5	37	c.1479_1468	CCDS11377.1	17																																																																																			(deletion:cds_exon[36228565,36228939])	NULL		0.783	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	protein_coding	OTTHUMT00000257875.1	GCCGCCGTGGCC	NM_000421		36228845	-1	no_errors	NM_000421	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.000:0.000:0.000:0.001:0.022:0.019:0.015:0.010:0.005:0.015:0.064:0.069	-
ARF6	382	genome.wustl.edu	37	14	50361172	50361174	+	3'UTR	DEL	TTT	TTT	-	rs576663362|rs138800769|rs35848359	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	TTT	TTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr14:50361172_50361174delTTT	ENST00000298316.5	+	0	1265_1267					NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6						cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					ttctttttccttttttttttttt	0.389																																																0			14																																								49430924	SO:0001624	3_prime_UTR_variant	0				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.*192TTT>-	14.37:g.50361181_50361183delTTT			49430922	P26438|Q6FGZ2	RNA	DEL	-	NULL	ENST00000298316.5	37	NULL	CCDS9695.1	14																																																																																			(deletion:rna[49430514,49433522])	-		0.389	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132430	protein_coding	OTTHUMT00000276883.1	TTT	NM_001663		49430924	-1	pseudogene	XR_038888	genbank	human	model	54_36p	rna	DEL	0.000:0.013:0.002	-
CSRNP2	81566	genome.wustl.edu	37	12	51461474	51461477	+	Frame_Shift_Del	DEL	CTGG	CTGG	-			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	CTGG	CTGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:51461474_51461477delCTGG	ENST00000228515.1	-	4	984_987	c.687_690delCCAG	c.(685-690)agccagfs	p.SQ229fs		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	229	Cys-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						TAATCCCAGCCTGGCTGCAGGCAC	0.554																																																0			12																																								49747744	SO:0001589	frameshift_variant	81566			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.687_690delCCAG	12.37:g.51461474_51461477delCTGG	ENSP00000228515:p.Ser229fs		49747741		Frame_Shift_Del	DEL	NULL	p.S229fs	ENST00000228515.1	37	c.690_687	CCDS8807.1	12																																																																																			(deletion:cds_exon[49747723,49748019])	NULL		0.554	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP2	protein_coding	OTTHUMT00000404893.1	CTGG			49747744	-1	no_errors	NM_030809	genbank	human	provisional	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:0.999	-
CSRNP2	81566	genome.wustl.edu	37	12	51461484	51461488	+	Frame_Shift_Del	DEL	GCACA	GCACA	-			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	GCACA	GCACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:51461484_51461488delGCACA	ENST00000228515.1	-	4	973_977	c.676_680delTGTGC	c.(676-681)tgtgccfs	p.CA226fs		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	226	Cys-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CTGGCTGCAGGCACACGCTTCTGGG	0.546																																																0			12																																								49747755	SO:0001589	frameshift_variant	81566			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.676_680delTGTGC	12.37:g.51461484_51461488delGCACA	ENSP00000228515:p.Cys226fs		49747751		Frame_Shift_Del	DEL	NULL	p.C226fs	ENST00000228515.1	37	c.680_676	CCDS8807.1	12																																																																																			(deletion:cds_exon[49747723,49748019])	NULL		0.546	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP2	protein_coding	OTTHUMT00000404893.1	GCACA			49747755	-1	no_errors	NM_030809	genbank	human	provisional	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000	-
ANP32BP1	646791	genome.wustl.edu	37	15	75614966	75614987	+	RNA	DEL	GGCGGCGCGGTCCTGGGTGGCG	GGCGGCGCGGTCCTGGGTGGCG	-	rs115991344|rs563222844	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	GGCGGCGCGGTCCTGGGTGGCG	GGCGGCGCGGTCCTGGGTGGCG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:75614966_75614987delGGCGGCGCGGTCCTGGGTGGCG	ENST00000564205.1	-	0	47_68									acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1																		GGCAGAGGCCGGCGGCGCGGTCCTGGGTGGCGGGCGGCGTGG	0.577														602	0.120208	0.1452	0.1225	5008	,	,		9522	0.0298		0.2406	False		,,,				2504	0.0542															0			15																																								73402040			646791					15q24.2	2014-02-12			ENSG00000259790	ENSG00000259790			24267	pseudogene	pseudogene							Standard	NG_022900		Approved				OTTHUMG00000172674		15.37:g.75614966_75614987delGGCGGCGCGGTCCTGGGTGGCG			73402019		RNA	DEL	-	NULL	ENST00000564205.1	37	NULL		15																																																																																			(deletion:rna[73401167,73402105])	-		0.577	ANP32BP1-002	KNOWN	basic	processed_transcript	LOC646791	pseudogene	OTTHUMT00000419801.1	GGCGGCGCGGTCCTGGGTGGCG			73402040	-1	no_errors	XR_017650	genbank	human	model	54_36p	rna	DEL	0.004:0.001:0.001:0.000:0.001:0.000:0.001:0.001:0.002:0.003:0.002:0.001:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.001:0.001:0.007	-
CENPF	1063	genome.wustl.edu	37	1	214815222	214815225	+	Frame_Shift_Del	DEL	AGAG	AGAG	-	rs567266370		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	AGAG	AGAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:214815222_214815225delAGAG	ENST00000366955.3	+	12	3709_3712	c.3541_3544delAGAG	c.(3541-3546)agagagfs	p.RE1181fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1182fs*21(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTGAAAGAAAGAGAGAGTGAGAG	0.333																																					Colon(80;575 1284 11000 14801 43496)											1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	1																																								212881848	SO:0001589	frameshift_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3541_3544delAGAG	1.37:g.214815226_214815229delAGAG	ENSP00000355922:p.Arg1181fs		212881845	Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	HMMPfam_Cenp-F_N,superfamily_Spectrin repeat,HMMPfam_Cenp-F_leu_zip,superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F	p.E1182fs	ENST00000366955.3	37	c.3541_3544	CCDS31023.1	1																																																																																			(deletion:cds_exon[212879887,212883290])	NULL		0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	AGAG	NM_016343		212881848	+1	no_errors	NM_016343	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.831:0.255:0.250:0.321	-
