#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABHD12	26090	genome.wustl.edu	37	20	25304030	25304030	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr20:25304030T>C	ENST00000339157.5	-	3	625	c.353A>G	c.(352-354)cAg>cGg	p.Q118R	ABHD12_ENST00000376542.3_Missense_Mutation_p.Q118R	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	118					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						ACCTTGATCCTGTGGTTTTTT	0.438																																						dbGAP											0													174.0	157.0	163.0					20																	25304030		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.353A>G	20.37:g.25304030T>C	ENSP00000341408:p.Gln118Arg		A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_3	p.Q118R	ENST00000339157.5	37	c.353	CCDS42857.1	20	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026257	0.54683	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543;ENST00000450393	T;T;T	0.47869	0.83;0.83;0.83	5.67	5.67	0.87782	.	0.167364	0.53938	D	0.000052	T	0.43500	0.1250	L	0.50333	1.59	0.47183	D	0.999343	B;P;P	0.41848	0.372;0.651;0.763	B;B;B	0.36608	0.074;0.115;0.229	T	0.44847	-0.9301	10	0.49607	T	0.09	-0.0395	15.8778	0.79180	0.0:0.0:0.0:1.0	.	73;118;118	Q5T712;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	R	118;118;80;73	ENSP00000365725:Q118R;ENSP00000341408:Q118R;ENSP00000413311:Q73R	ENSP00000341408:Q118R	Q	-	2	0	ABHD12	25252030	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.386000	0.44380	2.288000	0.76882	0.533000	0.62120	CAG	ABHD12	-	NULL	ENSG00000100997		0.438	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD12	HGNC	protein_coding	OTTHUMT00000078423.2	52	0.00	0	T	NM_015600		25304030	25304030	-1	no_errors	ENST00000376542	ensembl	human	known	69_37n	missense	34	17.07	7	SNP	1.000	C
ADCY2	108	genome.wustl.edu	37	5	7520913	7520913	+	Silent	SNP	C	C	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr5:7520913C>T	ENST00000338316.4	+	3	560	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)											202.0	134.0	157.0					5																	7520913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.471C>T	5.37:g.7520913C>T			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D157	ENST00000338316.4	37	c.471	CCDS3872.2	5																																																																																			ADCY2	-	NULL	ENSG00000078295		0.547	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	124	0.00	0	C	NM_020546		7520913	7520913	+1	no_errors	ENST00000338316	ensembl	human	known	69_37n	silent	81	10.99	10	SNP	0.346	T
BSDC1	55108	genome.wustl.edu	37	1	32849611	32849611	+	Intron	SNP	C	C	G			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr1:32849611C>G	ENST00000455895.2	-	4	223				BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000341071.7_Silent_p.P76P|BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000446293.2_Silent_p.P76P|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000449308.1_Intron	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1											breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTATAGAGAACGGGCAGAGGA	0.557																																						dbGAP											0													91.0	89.0	89.0					1																	32849611		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.190-13G>C	1.37:g.32849611C>G			B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.P76	ENST00000455895.2	37	c.228	CCDS363.2	1																																																																																			BSDC1	-	NULL	ENSG00000160058		0.557	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	51	0.00	0	C	NM_018045		32849611	32849611	-1	no_errors	ENST00000341071	ensembl	human	known	69_37n	silent	39	18.75	9	SNP	0.001	G
C8orf33	65265	genome.wustl.edu	37	8	146278050	146278050	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr8:146278050C>A	ENST00000331434.6	+	2	199	c.85C>A	c.(85-87)Ccc>Acc	p.P29T		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	29										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AGCCCGGCTTCCCGGCCCAGT	0.687																																						dbGAP											0													37.0	45.0	42.0					8																	146278050		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.85C>A	8.37:g.146278050C>A	ENSP00000330361:p.Pro29Thr		A6NGC0|Q96BT8	Missense_Mutation	SNP	NULL	p.P29T	ENST00000331434.6	37	c.85	CCDS34974.1	8	.	.	.	.	.	.	.	.	.	.	.	13.03	2.115160	0.37339	.	.	ENSG00000182307	ENST00000331434	.	.	.	2.43	0.605	0.17553	.	0.839291	0.10241	N	0.698456	T	0.31263	0.0791	L	0.36672	1.1	0.09310	N	1	B	0.22683	0.073	B	0.31812	0.136	T	0.36841	-0.9731	8	.	.	.	-2.737	4.8042	0.13312	0.0:0.6854:0.0:0.3146	.	29	Q9H7E9	CH033_HUMAN	T	29	.	.	P	+	1	0	C8orf33	146248854	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.271000	0.08572	0.133000	0.18654	-0.997000	0.02515	CCC	C8orf33	-	NULL	ENSG00000182307		0.687	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf33	HGNC	protein_coding	OTTHUMT00000382995.1	181	0.00	0	C	NM_023080		146278050	146278050	+1	no_errors	ENST00000331434	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	0.001	A
CDH1	999	genome.wustl.edu	37	16	68846065	68846065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr16:68846065C>T	ENST00000261769.5	+	8	1227	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q346*|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	346	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCTGGTGGTTCAAGCTGCTGA	0.522			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(1)|Deletion - In frame(1)	stomach(1)|breast(1)											221.0	160.0	181.0					16																	68846065		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1036C>T	16.37:g.68846065C>T	ENSP00000261769:p.Gln346*		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q346*	ENST00000261769.5	37	c.1036	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025448	0.75390	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.93	2.82	0.32997	.	0.134734	0.33854	N	0.004500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.6167	0.51094	0.1353:0.6168:0.248:0.0	.	.	.	.	X	346	.	ENSP00000261769:Q346X	Q	+	1	0	CDH1	67403566	0.004000	0.15560	0.716000	0.30569	0.197000	0.23852	0.655000	0.24933	0.356000	0.24157	0.555000	0.69702	CAA	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000039068		0.522	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	134	0.00	0	C	NM_004360		68846065	68846065	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	64	17.95	14	SNP	0.979	T
CHST7	56548	genome.wustl.edu	37	X	46433865	46433865	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chrX:46433865G>A	ENST00000276055.3	+	1	647	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	167					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						CGACTTCTCCGTGCTGCGGCT	0.697																																						dbGAP											0													20.0	21.0	21.0					X																	46433865		2196	4284	6480	-	-	-	SO:0001583	missense	0			AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.499G>A	X.37:g.46433865G>A	ENSP00000276055:p.Val167Met		O75667	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.V167M	ENST00000276055.3	37	c.499	CCDS14268.1	X	.	.	.	.	.	.	.	.	.	.	g	20.7	4.037850	0.75617	.	.	ENSG00000147119	ENST00000276055	D	0.82255	-1.59	4.23	4.23	0.50019	Sulfotransferase domain (1);	0.081748	0.48286	D	0.000181	D	0.89901	0.6849	M	0.74881	2.28	0.40744	D	0.982851	D	0.89917	1.0	D	0.81914	0.995	D	0.90617	0.4556	10	0.46703	T	0.11	-23.0985	14.6378	0.68702	0.0:0.0:1.0:0.0	.	167	Q9NS84	CHST7_HUMAN	M	167	ENSP00000276055:V167M	ENSP00000276055:V167M	V	+	1	0	CHST7	46318809	1.000000	0.71417	0.959000	0.39883	0.717000	0.41224	7.274000	0.78538	1.949000	0.56562	0.431000	0.28591	GTG	CHST7	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000147119		0.697	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST7	HGNC	protein_coding	OTTHUMT00000056362.1	103	0.00	0	G	NM_019886		46433865	46433865	+1	no_errors	ENST00000276055	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.999	A
CRISPLD2	83716	genome.wustl.edu	37	16	84888373	84888373	+	Missense_Mutation	SNP	G	G	A	rs199608437		TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr16:84888373G>A	ENST00000262424.5	+	6	871	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R216Q|AC025280.1_ENST00000584136.1_RNA|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R216Q	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	216					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AAGAATGGCCGGCCCTGCTCT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18114	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													146.0	151.0	149.0					16																	84888373		2199	4300	6499	-	-	-	SO:0001583	missense	0			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.647G>A	16.37:g.84888373G>A	ENSP00000262424:p.Arg216Gln		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.R216Q	ENST00000262424.5	37	c.647	CCDS10949.1	16	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.92	2.081557	0.36758	.	.	ENSG00000103196	ENST00000262424	T	0.63744	-0.06	5.05	-0.852	0.10713	.	0.411149	0.25753	N	0.028537	T	0.40372	0.1114	L	0.31804	0.96	0.80722	D	1	B;B;B	0.27416	0.004;0.093;0.178	B;B;B	0.23018	0.004;0.015;0.043	T	0.03945	-1.0990	10	0.27785	T	0.31	.	5.9772	0.19387	0.2309:0.3049:0.4643:0.0	.	216;216;216	Q9H0B8;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.	Q	216	ENSP00000262424:R216Q	ENSP00000262424:R216Q	R	+	2	0	CRISPLD2	83445874	0.987000	0.35691	0.984000	0.44739	0.958000	0.62258	1.659000	0.37387	-0.419000	0.07439	0.462000	0.41574	CGG	CRISPLD2	-	NULL	ENSG00000103196		0.542	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD2	HGNC	protein_coding	OTTHUMT00000269086.2	66	0.00	0	G	NM_031476		84888373	84888373	+1	no_errors	ENST00000262424	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.977	A
DMD	1756	genome.wustl.edu	37	X	32407759	32407759	+	Silent	SNP	T	T	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chrX:32407759T>A	ENST00000357033.4	-	32	4583	c.4377A>T	c.(4375-4377)cgA>cgT	p.R1459R	DMD_ENST00000378677.2_Silent_p.R1455R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1459	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|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 skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTGGAATAATCGAAACTTCA	0.353																																						dbGAP											0													106.0	94.0	98.0					X																	32407759		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4377A>T	X.37:g.32407759T>A			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R1459	ENST00000357033.4	37	c.4377	CCDS14233.1	X																																																																																			DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	54	0.00	0	T	NM_004006		32407759	32407759	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	silent	34	15.00	6	SNP	1.000	A
ESPL1	9700	genome.wustl.edu	37	12	53663151	53663151	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr12:53663151C>A	ENST00000257934.4	+	3	516	c.425C>A	c.(424-426)gCc>gAc	p.A142D	ESPL1_ENST00000552462.1_Missense_Mutation_p.A142D	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	142					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GACTATGAGGCCGTGGCTCGG	0.627																																					Colon(53;1069 1201 2587 5382)	dbGAP											0													48.0	49.0	48.0					12																	53663151		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.425C>A	12.37:g.53663151C>A	ENSP00000257934:p.Ala142Asp			Missense_Mutation	SNP	pfam_Peptidase_C50	p.A142D	ENST00000257934.4	37	c.425	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285703	0.59867	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.14266	2.52;2.52	4.89	3.99	0.46301	.	0.068730	0.64402	D	0.000018	T	0.23330	0.0564	M	0.70595	2.14	0.27773	N	0.943422	D	0.60575	0.988	P	0.49140	0.601	T	0.09015	-1.0694	10	0.56958	D	0.05	.	12.3693	0.55246	0.0:0.9167:0.0:0.0833	.	142	Q14674	ESPL1_HUMAN	D	142	ENSP00000257934:A142D;ENSP00000449831:A142D	ENSP00000257934:A142D	A	+	2	0	ESPL1	51949418	0.998000	0.40836	0.739000	0.30968	0.607000	0.37147	3.999000	0.57031	1.419000	0.47118	0.561000	0.74099	GCC	ESPL1	-	NULL	ENSG00000135476		0.627	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	36	0.00	0	C	NM_012291		53663151	53663151	+1	no_errors	ENST00000257934	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.672	A
FN3K	64122	genome.wustl.edu	37	17	80699260	80699260	+	Silent	SNP	C	C	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr17:80699260C>T	ENST00000300784.7	+	4	521	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	153					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCTGCGGCTTCATCCCGCAGG	0.562																																					Melanoma(10;391 597 14592 32548 32749)	dbGAP											0													88.0	64.0	72.0					17																	80699260		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.459C>T	17.37:g.80699260C>T				Silent	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.F153	ENST00000300784.7	37	c.459	CCDS11818.1	17																																																																																			FN3K	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000167363		0.562	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	HGNC	protein_coding	OTTHUMT00000439229.1	46	0.00	0	C	NM_022158		80699260	80699260	+1	no_errors	ENST00000300784	ensembl	human	known	69_37n	silent	28	24.32	9	SNP	0.999	T
COLGALT1	79709	genome.wustl.edu	37	19	17688077	17688077	+	Silent	SNP	C	C	T	rs145927102		TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr19:17688077C>T	ENST00000252599.4	+	7	1143	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	341					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TGGGCTTCGACGAGGTGAGCT	0.667																																						dbGAP											0													31.0	32.0	32.0					19																	17688077		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1023C>T	19.37:g.17688077C>T			Q8NC64	Silent	SNP	pfam_Glyco_trans_25	p.D341	ENST00000252599.4	37	c.1023	CCDS12363.1	19																																																																																			GLT25D1	-	pfam_Glyco_trans_25	ENSG00000130309		0.667	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	123	0.00	0	C	NM_024656		17688077	17688077	+1	no_errors	ENST00000252599	ensembl	human	known	69_37n	silent	58	21.62	16	SNP	0.990	T
GRIA3	2892	genome.wustl.edu	37	X	122536848	122536848	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chrX:122536848C>A	ENST00000371251.1	+	8	1136	c.1084C>A	c.(1084-1086)Caa>Aaa	p.Q362K	GRIA3_ENST00000541091.1_Missense_Mutation_p.Q346K|GRIA3_ENST00000264357.5_Missense_Mutation_p.Q362K|GRIA3_ENST00000542149.1_Missense_Mutation_p.Q362K|GRIA3_ENST00000371256.5_Missense_Mutation_p.Q362K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	362					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CTACCAGGTGCAAGTACAAGG	0.378																																						dbGAP											0													133.0	135.0	134.0					X																	122536848		2203	4299	6502	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1084C>A	X.37:g.122536848C>A	ENSP00000360297:p.Gln362Lys		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q362K	ENST00000371251.1	37	c.1084	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987481	0.53934	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	N	0.20685	0.6	0.80722	D	1	B;B;B	0.26258	0.008;0.145;0.12	B;B;B	0.22601	0.037;0.04;0.023	T	0.04693	-1.0933	10	0.66056	D	0.02	.	17.3778	0.87397	0.0:1.0:0.0:0.0	.	346;362;362	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	K	362;362;362;362;346	ENSP00000264357:Q362K;ENSP00000446146:Q362K;ENSP00000360302:Q362K;ENSP00000360297:Q362K;ENSP00000446440:Q346K	ENSP00000264357:Q362K	Q	+	1	0	GRIA3	122364529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.317000	0.78254	0.594000	0.82650	CAA	GRIA3	-	pfam_ANF_lig-bd_rcpt	ENSG00000125675		0.378	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	76	0.00	0	C	NM_000828		122536848	122536848	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	1.000	A
GRIA3	2892	genome.wustl.edu	37	X	122616872	122616872	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chrX:122616872G>A	ENST00000371251.1	+	15	2714	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	GRIA3_ENST00000264357.5_Missense_Mutation_p.G888R|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.G888R			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	888					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CAACGTGTATGGAACAGAGAG	0.378																																						dbGAP											0													111.0	100.0	104.0					X																	122616872		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2662G>A	X.37:g.122616872G>A	ENSP00000360297:p.Gly888Arg		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G888R	ENST00000371251.1	37	c.2662	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423613	0.83559	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.13538	2.58;2.58;2.58	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.22173	-1.0224	10	0.87932	D	0	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	888;888	P42263;P42263-2	GRIA3_HUMAN;.	R	888	ENSP00000264357:G888R;ENSP00000360302:G888R;ENSP00000360297:G888R	ENSP00000264357:G888R	G	+	1	0	GRIA3	122444553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.436000	0.82500	0.600000	0.82982	GGA	GRIA3	-	NULL	ENSG00000125675		0.378	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	161	0.61	1	G	NM_000828		122616872	122616872	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	98	10.00	11	SNP	1.000	A
HECTD1	25831	genome.wustl.edu	37	14	31614023	31614023	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr14:31614023G>T	ENST00000399332.1	-	16	3109	c.2621C>A	c.(2620-2622)aCa>aAa	p.T874K	RNU6-541P_ENST00000384709.1_RNA|HECTD1_ENST00000553700.1_Missense_Mutation_p.T874K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	874					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.T874K(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGTCTATTTGTATGAAGTTC	0.378																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											74.0	72.0	72.0					14																	31614023		1866	4113	5979	-	-	-	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2621C>A	14.37:g.31614023G>T	ENSP00000382269:p.Thr874Lys		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.T874K	ENST00000399332.1	37	c.2621	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914674	0.52546	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.71222	1.08;1.08;1.55;-0.55	5.69	5.69	0.88448	Armadillo-type fold (1);	0.067914	0.56097	U	0.000022	T	0.43010	0.1228	N	0.01874	-0.695	0.80722	D	1	B;B	0.30482	0.044;0.281	B;B	0.24974	0.019;0.057	T	0.54754	-0.8246	10	0.02654	T	1	-9.8654	19.8148	0.96562	0.0:0.0:1.0:0.0	.	874;874	D3DS86;Q9ULT8	.;HECD1_HUMAN	K	874;874;874;348;874	ENSP00000450697:T874K;ENSP00000382269:T874K;ENSP00000451860:T348K;ENSP00000452015:T874K	ENSP00000261312:T874K	T	-	2	0	HECTD1	30683774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.615000	0.83006	2.687000	0.91594	0.650000	0.86243	ACA	HECTD1	-	superfamily_ARM-type_fold	ENSG00000092148		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	49	0.00	0	G			31614023	31614023	-1	no_errors	ENST00000399332	ensembl	human	known	69_37n	missense	27	10.00	3	SNP	1.000	T
LRRK2	120892	genome.wustl.edu	37	12	40651068	40651068	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr12:40651068T>A	ENST00000298910.7	+	12	1365	c.1307T>A	c.(1306-1308)cTg>cAg	p.L436Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.L436Q	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	436					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)				AGAAAAATACTGTTATCAAAA	0.274																																						dbGAP											0													60.0	62.0	61.0					12																	40651068		2202	4297	6499	-	-	-	SO:0001583	missense	0			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.1307T>A	12.37:g.40651068T>A	ENSP00000298910:p.Leu436Gln		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.L436Q	ENST00000298910.7	37	c.1307	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048146	0.75846	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.39056	1.1;1.1	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.63010	0.2475	M	0.61703	1.905	0.47659	D	0.99948	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.65393	-0.6179	10	0.87932	D	0	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	436;436	E9PC85;Q5S007	.;LRRK2_HUMAN	Q	436	ENSP00000341930:L436Q;ENSP00000298910:L436Q	ENSP00000298910:L436Q	L	+	2	0	LRRK2	38937335	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.404000	0.66344	2.326000	0.78906	0.533000	0.62120	CTG	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.274	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	38	0.00	0	T	XM_058513		40651068	40651068	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	1.000	A
KMT2E	55904	genome.wustl.edu	37	7	104753375	104753375	+	Silent	SNP	C	C	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr7:104753375C>T	ENST00000311117.3	+	27	5717	c.5172C>T	c.(5170-5172)tcC>tcT	p.S1724S	KMT2E_ENST00000334877.4_Silent_p.S1682S|KMT2E_ENST00000257745.4_Silent_p.S1724S|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1724	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CGCCACCTTCCAGTGTTTTGG	0.542																																						dbGAP											0													165.0	141.0	149.0					7																	104753375		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5172C>T	7.37:g.104753375C>T			B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.S1724	ENST00000311117.3	37	c.5172	CCDS34723.1	7																																																																																			MLL5	-	NULL	ENSG00000005483		0.542	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	90	0.00	0	C			104753375	104753375	+1	no_errors	ENST00000257745	ensembl	human	known	69_37n	silent	37	11.90	5	SNP	0.330	T
OASL	8638	genome.wustl.edu	37	12	121461911	121461911	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr12:121461911G>C	ENST00000257570.5	-	5	1199	c.929C>G	c.(928-930)aCc>aGc	p.T310S	OASL_ENST00000339275.5_Missense_Mutation_p.H229Q	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	310					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACGTTGAGGGTGGGGTCGGC	0.547																																					Colon(192;517 2041 31392 31913 39966)	dbGAP											0													103.0	82.0	89.0					12																	121461911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.929C>G	12.37:g.121461911G>C	ENSP00000257570:p.Thr310Ser		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.T310S	ENST00000257570.5	37	c.929	CCDS9211.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.82|13.82	2.352285|2.352285	0.41700|0.41700	.|.	.|.	ENSG00000135114|ENSG00000135114	ENST00000339275|ENST00000257570;ENST00000543677	T|T	0.41400|0.57595	1.0|0.39	5.74|5.74	5.74|5.74	0.90152|0.90152	.|-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);2-5-oligoadenylate synthetase, conserved site (1);	.|0.244071	.|0.28688	.|N	.|0.014475	T|T	0.72495|0.72495	0.3467|0.3467	.|.	.|.	.|.	0.25645|0.25645	N|N	0.986163|0.986163	D|D	0.89917|0.89917	1.0|1.0	D|D	0.76575|0.97110	0.988|1.0	T|T	0.67162|0.67162	-0.5740|-0.5740	8|9	0.87932|0.72032	D|D	0|0.01	-23.7722|-23.7722	15.4358|15.4358	0.75146|0.75146	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229|310	Q15646-2|Q15646	.|OASL_HUMAN	Q|S	229|310;127	ENSP00000341125:H229Q|ENSP00000257570:T310S	ENSP00000341125:H229Q|ENSP00000257570:T310S	H|T	-|-	3|2	2|0	OASL|OASL	119946294|119946294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.794000|0.794000	0.44872|0.44872	5.728000|5.728000	0.68531|0.68531	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	CAC|ACC	OASL	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000135114		0.547	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	79	0.00	0	G	NM_003733		121461911	121461911	-1	no_errors	ENST00000257570	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	C
TENM2	57451	genome.wustl.edu	37	5	167517747	167517747	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr5:167517747A>T	ENST00000518659.1	+	8	1723	c.1684A>T	c.(1684-1686)Atg>Ttg	p.M562L	TENM2_ENST00000545108.1_Missense_Mutation_p.M562L|TENM2_ENST00000520394.1_Missense_Mutation_p.M330L|TENM2_ENST00000403607.2_Missense_Mutation_p.M395L|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.M441L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	562					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)										AGACAAAGAGATGGTTTCCTT	0.488																																						dbGAP											0													264.0	261.0	262.0					5																	167517747		2051	4182	6233	-	-	-	SO:0001583	missense	0			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.1684A>T	5.37:g.167517747A>T	ENSP00000429430:p.Met562Leu		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.M562L	ENST00000518659.1	37	c.1684		5	.	.	.	.	.	.	.	.	.	.	A	11.88	1.771991	0.31320	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.96	3.49	0.39957	.	0.771600	0.13271	N	0.400502	T	0.09905	0.0243	N	0.08118	0	0.23381	N	0.997791	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.34551	-0.9824	10	0.27082	T	0.32	.	6.3228	0.21227	0.6113:0.2944:0.0943:0.0	.	562;330;441	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	L	562;562;441;330;395	ENSP00000429430:M562L;ENSP00000438635:M562L;ENSP00000428964:M441L;ENSP00000427874:M330L;ENSP00000384905:M395L	ENSP00000384905:M395L	M	+	1	0	ODZ2	167450325	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.745000	0.38278	0.451000	0.26802	0.533000	0.62120	ATG	ODZ2	-	NULL	ENSG00000145934		0.488	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	181	0.00	0	A	NM_001122679		167517747	167517747	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	125	13.79	20	SNP	0.998	T
OR2J3	442186	genome.wustl.edu	37	6	29080484	29080484	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr6:29080484C>A	ENST00000377169.1	+	1	817	c.817C>A	c.(817-819)Caa>Aaa	p.Q273K		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTCTCAAGATCAAGGCAAGTT	0.438																																						dbGAP											0													106.0	106.0	106.0					6																	29080484		1238	2544	3782	-	-	-	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.817C>A	6.37:g.29080484C>A	ENSP00000366374:p.Gln273Lys		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q273K	ENST00000377169.1	37	c.817	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546891	0.27652	.	.	ENSG00000204701	ENST00000377169	T	0.00137	8.68	3.02	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.22421	0.69	0.09310	N	1	P	0.45902	0.868	P	0.53760	0.734	T	0.02104	-1.1213	9	0.46703	T	0.11	.	5.8384	0.18619	0.0:0.7241:0.0:0.2759	.	273	O76001	OR2J3_HUMAN	K	273	ENSP00000366374:Q273K	ENSP00000366374:Q273K	Q	+	1	0	OR2J3	29188463	0.000000	0.05858	0.530000	0.27963	0.800000	0.45204	-0.245000	0.08890	1.679000	0.50963	0.436000	0.28706	CAA	OR2J3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204701		0.438	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	98	0.00	0	C			29080484	29080484	+1	no_errors	ENST00000377169	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	0.002	A
P4HB	5034	genome.wustl.edu	37	17	79816926	79816926	+	Intron	SNP	C	C	T	rs1533756	byFrequency	TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr17:79816926C>T	ENST00000331483.4	-	2	575				P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Intron|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide						cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GAGAACCCGGCCTGAGGAACG	0.597													C|||	2288	0.456869	0.2126	0.5072	5008	,	,		16741	0.5139		0.4801	False		,,,				2504	0.6687				Colon(49;444 983 1296 7887 42561)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.352+130G>A	17.37:g.79816926C>T			B2RDQ2|P30037|P32079|Q15205|Q6LDE5	RNA	SNP	-	NULL	ENST00000331483.4	37	NULL	CCDS11787.1	17																																																																																			P4HB	-	-	ENSG00000185624		0.597	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	8	0.00	0	C	NM_000918		79816926	79816926	-1	no_errors	ENST00000472244	ensembl	human	known	69_37n	rna	2	81.82	9	SNP	0.000	T
PDE1C	5137	genome.wustl.edu	37	7	31862802	31862802	+	Silent	SNP	C	C	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr7:31862802C>T	ENST00000396191.1	-	14	1922	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	PDE1C_ENST00000396182.2_Silent_p.E489E|PDE1C_ENST00000321453.7_Silent_p.E489E|PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396193.1_Silent_p.E549E|PDE1C_ENST00000396184.3_Silent_p.E489E	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	489	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GGGCACTTCCCTCTGAACCAG	0.458																																						dbGAP											0													113.0	101.0	105.0					7																	31862802		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1467G>A	7.37:g.31862802C>T			B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.E489	ENST00000396191.1	37	c.1467	CCDS55099.1	7																																																																																			PDE1C	-	NULL	ENSG00000154678		0.458	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	72	0.00	0	C			31862802	31862802	-1	no_errors	ENST00000321453	ensembl	human	known	69_37n	silent	60	10.45	7	SNP	1.000	T
PDE7A	5150	genome.wustl.edu	37	8	66753615	66753615	+	Silent	SNP	C	C	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr8:66753615C>T	ENST00000401827.3	-	1	572	c.129G>A	c.(127-129)caG>caA	p.Q43Q	PDE7A_ENST00000396642.3_Silent_p.Q43Q|CTD-2532N20.1_ENST00000607622.1_lincRNA	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	43					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CCTGAGAGAGCTGCCGGGGAT	0.662																																						dbGAP											0													12.0	18.0	16.0					8																	66753615		1895	4119	6014	-	-	-	SO:0001819	synonymous_variant	0			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.129G>A	8.37:g.66753615C>T			A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.Q43	ENST00000401827.3	37	c.129	CCDS56538.1	8																																																																																			PDE7A	-	NULL	ENSG00000205268		0.662	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7A	HGNC	protein_coding	OTTHUMT00000378905.1	141	0.00	0	C			66753615	66753615	-1	no_errors	ENST00000401827	ensembl	human	known	69_37n	silent	38	19.15	9	SNP	1.000	T
PLA2G4C	8605	genome.wustl.edu	37	19	48558217	48558217	+	Silent	SNP	G	G	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr19:48558217G>A	ENST00000599921.1	-	15	1704	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000354276.3_Silent_p.A449A|PLA2G4C_ENST00000599111.1_Silent_p.A459A|PLA2G4C_ENST00000413144.2_Silent_p.A449A			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	449	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGCTGGCGGGGGCCTTGGACC	0.567																																						dbGAP											0													98.0	98.0	98.0					19																	48558217		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1347C>T	19.37:g.48558217G>A			B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	p.A449	ENST00000599921.1	37	c.1347	CCDS12710.1	19																																																																																			PLA2G4C	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000105499		0.567	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	HGNC	protein_coding	OTTHUMT00000465551.1	49	0.00	0	G			48558217	48558217	-1	no_errors	ENST00000413144	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	0.558	A
PLXNA1	5361	genome.wustl.edu	37	3	126737227	126737227	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr3:126737227G>A	ENST00000393409.2	+	19	3751	c.3751G>A	c.(3751-3753)Gga>Aga	p.G1251R	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G1228R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1251					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGGCATTGGCGGAGGCGGGGG	0.642																																						dbGAP											0													50.0	43.0	46.0					3																	126737227		2203	4298	6501	-	-	-	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3751G>A	3.37:g.126737227G>A	ENSP00000377061:p.Gly1251Arg			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1251R	ENST00000393409.2	37	c.3751	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181750	0.57800	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.09723	2.95;2.95	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000011	T	0.12347	0.0300	L	0.29908	0.895	0.80722	D	1	P	0.43169	0.8	P	0.44597	0.454	T	0.05435	-1.0885	10	0.72032	D	0.01	.	15.6496	0.77081	0.0:0.0:1.0:0.0	.	1251	Q9UIW2	PLXA1_HUMAN	R	1251;1228	ENSP00000377061:G1251R;ENSP00000251772:G1228R	ENSP00000251772:G1228R	G	+	1	0	PLXNA1	128219917	1.000000	0.71417	0.892000	0.35008	0.023000	0.10783	7.747000	0.85070	2.158000	0.67659	0.467000	0.42956	GGA	PLXNA1	-	NULL	ENSG00000114554		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	134	0.00	0	G	NM_032242		126737227	126737227	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	0.998	A
PPTC7	160760	genome.wustl.edu	37	12	110989635	110989635	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr12:110989635G>T	ENST00000354300.3	-	2	650	c.362C>A	c.(361-363)aCa>aAa	p.T121K		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	121	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						ACAGTAGCTTGTGGTGAGAAT	0.413																																						dbGAP											0													172.0	157.0	162.0					12																	110989635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.362C>A	12.37:g.110989635G>T	ENSP00000346255:p.Thr121Lys		B3KWC5|Q68DZ7|Q6UY82	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.T121K	ENST00000354300.3	37	c.362	CCDS9149.1	12	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434165	0.25813	.	.	ENSG00000196850	ENST00000354300	.	.	.	5.96	5.96	0.96718	Protein phosphatase 2C-like (5);	0.248868	0.47852	D	0.000205	T	0.23451	0.0567	N	0.00605	-1.335	0.48185	D	0.999605	B	0.02656	0.0	B	0.16722	0.016	T	0.42396	-0.9454	9	0.05620	T	0.96	-5.7272	20.4082	0.99013	0.0:0.0:1.0:0.0	.	121	Q8NI37	PPTC7_HUMAN	K	121	.	ENSP00000346255:T121K	T	-	2	0	PPTC7	109474018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.944000	0.87722	2.814000	0.96858	0.655000	0.94253	ACA	PPTC7	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000196850		0.413	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPTC7	HGNC	protein_coding	OTTHUMT00000404635.1	63	0.00	0	G	NM_139283		110989635	110989635	-1	no_errors	ENST00000354300	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	1.000	T
PRAME	23532	genome.wustl.edu	37	22	22895259	22895259	+	Intron	SNP	G	G	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr22:22895259G>T	ENST00000398741.1	-	4	328				PRAME_ENST00000485532.1_Intron|PRAME_ENST00000402697.1_Intron|PRAME_ENST00000539862.1_Intron|PRAME_ENST00000406503.1_Intron|PRAME_ENST00000424204.2_Intron|PRAME_ENST00000543184.1_Intron|PRAME_ENST00000405655.3_Intron|PRAME_ENST00000398743.2_Intron	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GAAGCCATCTGCCCAGACCTC	0.602																																					Melanoma(73;1707 1838 15168 27201)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.22-1748C>A	22.37:g.22895259G>T			B2R6Y7|O43481|Q8IXN8	Silent	SNP	NULL	p.G45	ENST00000398741.1	37	c.135	CCDS13801.1	22																																																																																			PRAME	-	NULL	ENSG00000185686		0.602	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAME	HGNC	protein_coding	OTTHUMT00000321644.1	66	0.00	0	G	NM_206953		22895259	22895259	-1	no_errors	ENST00000442481	ensembl	human	known	69_37n	silent	31	11.43	4	SNP	0.000	T
REG1B	5968	genome.wustl.edu	37	2	79312674	79312674	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr2:79312674G>T	ENST00000305089.3	-	5	457	c.377C>A	c.(376-378)aCt>aAt	p.T126N		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CGGGGATCCAGTGTCCCAGGA	0.552																																						dbGAP											0													94.0	85.0	88.0					2																	79312674		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.377C>A	2.37:g.79312674G>T	ENSP00000303206:p.Thr126Asn			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_Pancreatis_ac,pfscan_C-type_lectin	p.T126N	ENST00000305089.3	37	c.377	CCDS1963.1	2	.	.	.	.	.	.	.	.	.	.	g	9.774	1.173600	0.21704	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.08193	3.12;3.12	3.78	-4.98	0.03019	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.721080	0.01535	N	0.018951	T	0.07098	0.0180	L	0.51914	1.62	0.09310	N	1	B	0.17268	0.021	B	0.19391	0.025	T	0.32375	-0.9909	10	0.21540	T	0.41	.	0.3208	0.00303	0.2971:0.1309:0.2763:0.2957	.	126	P48304	REG1B_HUMAN	N	77;126	ENSP00000387410:T77N;ENSP00000303206:T126N	ENSP00000303206:T126N	T	-	2	0	REG1B	79166182	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-1.822000	0.01711	-1.283000	0.02393	-0.327000	0.08410	ACT	REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_Pancreatis_ac,pfscan_C-type_lectin	ENSG00000172023		0.552	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	67	0.00	0	G	NM_006507		79312674	79312674	-1	no_errors	ENST00000305089	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	0.000	T
RIMBP3	85376	genome.wustl.edu	37	22	20456765	20456765	+	Missense_Mutation	SNP	G	G	A	rs374395444	byFrequency	TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr22:20456765G>A	ENST00000426804.1	-	1	5021	c.4537C>T	c.(4537-4539)Cgc>Tgc	p.R1513C	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1513	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.		R -> C (in dbSNP:rs469096). {ECO:0000269|PubMed:11258795, ECO:0000269|PubMed:15489334}.							breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCCACTAGGCGCCCGGGGATA	0.587													g|||	1324	0.264377	0.2602	0.268	5008	,	,		14271	0.2579		0.329	False		,,,				2504	0.2076					dbGAP											0													2.0	4.0	4.0					22																	20456765		430	1334	1764	-	-	-	SO:0001583	missense	0			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4537C>T	22.37:g.20456765G>A	ENSP00000391564:p.Arg1513Cys		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.R1513C	ENST00000426804.1	37	c.4537	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404883	0.25378	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.30182	1.54	3.34	2.2	0.27929	Src homology-3 domain (2);	0.289259	0.31246	N	0.007986	T	0.12860	0.0312	N	0.08118	0	0.43032	P	0.005399000000000043	P	0.46277	0.875	B	0.37508	0.252	T	0.13953	-1.0490	9	0.66056	D	0.02	-7.4624	7.9269	0.29880	0.0:0.2559:0.744:0.0	.	1419	Q9UFD9	RIM3A_HUMAN	C	1419;1513	ENSP00000391564:R1513C	ENSP00000347318:R1419C	R	-	1	0	RIMBP3	18836765	0.936000	0.31750	0.971000	0.41717	0.018000	0.09664	1.456000	0.35201	1.896000	0.54893	0.423000	0.28283	CGC	RIMBP3	-	superfamily_SH3_domain,smart_SH3_domain	ENSG00000196622		0.587	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	56	0.00	0	G	NM_015672		20456765	20456765	-1	no_errors	ENST00000426804	ensembl	human	known	69_37n	missense	17	10.53	2	SNP	0.941	A
SPDYE2B	100310812	genome.wustl.edu	37	7	102294074	102294074	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr7:102294074T>C	ENST00000507450.1	+	3	811	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P	SPDYE2B_ENST00000455020.2_5'Flank|SPDYE2B_ENST00000436228.2_Missense_Mutation_p.S113P|POLR2J2_ENST00000591000.1_Intron|POLR2J2_ENST00000476151.1_Intron|POLR2J2_ENST00000333432.6_Intron	NM_001166339.1	NP_001159811.1	A6NHP3	SPE2B_HUMAN	speedy/RINGO cell cycle regulator family member E2B	113																	GCGAGTGTCATCCATCCTCCC	0.542																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59507.1	7q22.1	2013-05-08			ENSG00000173678	ENSG00000173678		"""Speedy homologs"""	48334	protein-coding gene	gene with protein product							Standard	NM_001166339		Approved			A6NHP3	OTTHUMG00000158393	ENST00000507450.1:c.337T>C	7.37:g.102294074T>C	ENSP00000424058:p.Ser113Pro		D6RBN0	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.S113P	ENST00000507450.1	37	c.337	CCDS59507.1	7	.	.	.	.	.	.	.	.	.	.	c	0	-2.811089	0.00074	.	.	ENSG00000173678	ENST00000540965;ENST00000507450;ENST00000436228	.	.	.	.	.	.	.	.	.	.	.	T	0.12732	0.0309	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	6	0.27082	T	0.32	.	.	.	.	.	113	A6NHP3	SPE2L_HUMAN	P	113	.	ENSP00000440393:S113P	S	+	1	0	RP11-577H5.4	102081310	0.724000	0.28038	0.002000	0.10522	0.002000	0.02628	-0.913000	0.04042	-1.655000	0.01497	-1.635000	0.00777	TCC	SPDYE6	-	NULL	ENSG00000173678		0.542	SPDYE2B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE6	HGNC	protein_coding	OTTHUMT00000350899.3	19	0.00	0	T			102294074	102294074	+1	no_errors	ENST00000436228	ensembl	human	known	69_37n	missense	5	28.57	2	SNP	0.002	C
TRPC4AP	26133	genome.wustl.edu	37	20	33603886	33603886	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23G-01A-11D-A20S-09	TCGA-AC-A23G-11A-12D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35bed911-f606-404f-8422-6d0ac1b740db	dd7c759d-25e5-413f-8504-9350c5aaffa2	g.chr20:33603886G>T	ENST00000252015.2	-	10	1364	c.1275C>A	c.(1273-1275)gaC>gaA	p.D425E	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.D27E|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.D386E|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.D417E			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	425					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AAATCAGTTTGTCAAACAAAT	0.463																																						dbGAP											0													119.0	107.0	111.0					20																	33603886		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1275C>A	20.37:g.33603886G>T	ENSP00000252015:p.Asp425Glu		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_DUF3689	p.D425E	ENST00000252015.2	37	c.1275	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869405	0.32977	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.97	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.46614	1.455	0.53005	D	0.999967	B;B;B	0.20550	0.018;0.046;0.046	B;B;B	0.26094	0.046;0.066;0.066	T	0.36335	-0.9752	9	0.33141	T	0.24	.	6.7966	0.23729	0.2107:0.1381:0.6512:0.0	.	386;417;425	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	E	425;417;27;386;410	.	ENSP00000252015:D425E	D	-	3	2	TRPC4AP	33067547	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.270000	0.51600	1.093000	0.41377	-0.136000	0.14681	GAC	TRPC4AP	-	pfam_DUF3689	ENSG00000100991		0.463	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	59	0.00	0	G	NM_015638		33603886	33603886	-1	no_errors	ENST00000252015	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	T
