#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
BCR	613	genome.wustl.edu	37	22	23523318	23523318	+	Silent	SNP	C	C	T			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr22:23523318C>T	ENST00000305877.8	+	1	922	c.171C>T	c.(169-171)atC>atT	p.I57I	BCR_ENST00000398512.5_Silent_p.I57I|BCR_ENST00000359540.3_Silent_p.I57I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	57	Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TCCGCATGATCTACCTGCAGA	0.677			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	dbGAP		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													21.0	23.0	22.0					22																	23523318		2187	4281	6468	-	-	-	SO:0001819	synonymous_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.171C>T	22.37:g.23523318C>T			P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.I57	ENST00000305877.8	37	c.171	CCDS13806.1	22																																																																																			BCR	-	pfam_Bcr-Abl_oncoprot_oligo,superfamily_Bcr-Abl_oncoprot_oligo	ENSG00000186716		0.677	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	28	0.00	0	C	NM_004327		23523318	23523318	+1	no_errors	ENST00000305877	ensembl	human	known	69_37n	silent	32	30.43	14	SNP	1.000	T
CCDC27	148870	genome.wustl.edu	37	1	3679228	3679228	+	Silent	SNP	C	C	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr1:3679228C>G	ENST00000294600.2	+	6	990	c.906C>G	c.(904-906)ctC>ctG	p.L302L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	302										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCTGAGCCTCCTGAAGGCCT	0.687																																						dbGAP											0													25.0	25.0	25.0					1																	3679228		2031	3885	5916	-	-	-	SO:0001819	synonymous_variant	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.906C>G	1.37:g.3679228C>G			Q5TBV3|Q96M50	Silent	SNP	superfamily_Prefoldin	p.L302	ENST00000294600.2	37	c.906	CCDS50.1	1																																																																																			CCDC27	-	NULL	ENSG00000162592		0.687	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	63	0.00	0	C	NM_152492		3679228	3679228	+1	no_errors	ENST00000294600	ensembl	human	known	69_37n	silent	49	34.21	26	SNP	0.010	G
CDH1	999	genome.wustl.edu	37	16	68862076	68862076	+	Splice_Site	SNP	G	G	A			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr16:68862076G>A	ENST00000261769.5	+	14	2355		c.e14-1		CDH1_ENST00000422392.2_Splice_Site|CDH1_ENST00000562836.1_Splice_Site	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						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.?(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)		CACCATCCCAGTTCTGATTCT	0.537			"""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	1	Unknown(1)	breast(1)											111.0	103.0	106.0					16																	68862076		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	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.2165-1G>A	16.37:g.68862076G>A			A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	-	e14-1	ENST00000261769.5	37	c.2165-1	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617141	0.87359	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH1	67419577	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.339000	0.96797	2.885000	0.99019	0.655000	0.94253	.	CDH1	-	-	ENSG00000039068		0.537	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	131	0.00	0	G	NM_004360	Intron	68862076	68862076	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	splice_site	83	37.12	49	SNP	1.000	A
COL9A1	1297	genome.wustl.edu	37	6	70926628	70926628	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr6:70926628C>T	ENST00000357250.6	-	38	2896	c.2738G>A	c.(2737-2739)cGa>cAa	p.R913Q	COL9A1_ENST00000370499.4_Missense_Mutation_p.R670Q|COL9A1_ENST00000320755.7_Missense_Mutation_p.R670Q|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	913	Nonhelical region (NC1).			AGQRAFNKGPDP -> LVSEHLTKGLTLERLTAAWLSA (in Ref. 1; AAA53475). {ECO:0000305}.	axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GTTAAATGCTCGCTGACCAGC	0.602																																						dbGAP											0													37.0	40.0	39.0					6																	70926628		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2738G>A	6.37:g.70926628C>T	ENSP00000349790:p.Arg913Gln		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.R913Q	ENST00000357250.6	37	c.2738	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094550	0.36952	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.91521	-2.49;-2.67;-2.86	5.87	5.0	0.66597	.	0.731230	0.13016	N	0.420448	D	0.90521	0.7030	L	0.46741	1.465	0.36476	D	0.867563	D;D;D	0.76494	0.997;0.998;0.999	P;P;D	0.72625	0.777;0.852;0.978	D	0.88303	0.2951	10	0.38643	T	0.18	.	11.0447	0.47852	0.0:0.8585:0.0:0.1415	.	913;670;462	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	Q	913;670;670	ENSP00000349790:R913Q;ENSP00000315252:R670Q;ENSP00000359530:R670Q	ENSP00000315252:R670Q	R	-	2	0	COL9A1	70983349	0.961000	0.32948	0.974000	0.42286	0.455000	0.32408	1.560000	0.36331	1.495000	0.48549	0.591000	0.81541	CGA	COL9A1	-	NULL	ENSG00000112280		0.602	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	25	0.00	0	C			70926628	70926628	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	0.993	T
FAM182B	728882	genome.wustl.edu	37	20	25840531	25840531	+	Intron	SNP	A	A	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr20:25840531A>G	ENST00000376403.1	-	1	142				FAM182B_ENST00000376404.2_Intron|FAM182B_ENST00000478164.1_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B											lung(1)	1						ccggagcctcagagccccgac	0.612																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.236+3164T>C	20.37:g.25840531A>G			Q4G0Q1	RNA	SNP	-	NULL	ENST00000376403.1	37	NULL		20																																																																																			FAM182B	-	-	ENSG00000175170		0.612	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2	50	0.00	0	A	NR_026714		25840531	25840531	-1	no_errors	ENST00000584356	ensembl	human	known	69_37n	rna	56	12.31	8	SNP	0.018	G
FLNA	2316	genome.wustl.edu	37	X	153582335	153582335	+	Silent	SNP	T	T	A			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chrX:153582335T>A	ENST00000369850.3	-	35	5870	c.5634A>T	c.(5632-5634)ggA>ggT	p.G1878G	FLNA_ENST00000360319.4_Silent_p.G1870G|FLNA_ENST00000422373.1_Silent_p.G1870G|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Silent_p.G69G|FLNA_ENST00000344736.4_Silent_p.G1838G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1878					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTTCACTACTCCATGGGTGA	0.572											OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													100.0	99.0	99.0					X																	153582335		2138	4226	6364	-	-	-	SO:0001819	synonymous_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5634A>T	X.37:g.153582335T>A		1756	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	p.E161V	ENST00000369850.3	37	c.482	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	T	1.743	-0.491259	0.04322	.	.	ENSG00000196924	ENST00000438732	.	.	.	5.34	-5.38	0.02673	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	0.9225	0.01318	0.1736:0.3053:0.2173:0.3038	.	.	.	.	V	161	.	.	E	-	2	0	FLNA	153235529	0.001000	0.12720	0.499000	0.27577	0.439000	0.31926	-2.094000	0.01351	-1.274000	0.02421	0.356000	0.21956	GAG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.572	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	77	0.00	0	T			153582335	153582335	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000438732	ensembl	human	novel	69_37n	missense	91	27.78	35	SNP	0.094	A
FRG1B	284802	genome.wustl.edu	37	20	29614296	29614297	+	5'UTR	INS	-	-	AGA	rs376619640		TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr20:29614296_29614297insAGA	ENST00000278882.3	+	0	289_290				FRG1B_ENST00000358464.4_5'UTR|FRG1B_ENST00000439954.2_5'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						aagagaaaaagagaagatgaag	0.292																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-91->AGA	20.37:g.29614300_29614302dupAGA			C4AME5	RNA	INS	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.292	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	27	0.00	0	-	NR_003579		29614296	29614297	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	37	13.95	6	INS	0.998:0.997	AGA
FXR2	9513	genome.wustl.edu	37	17	7507083	7507083	+	Silent	SNP	C	C	T			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr17:7507083C>T	ENST00000250113.7	-	5	775	c.441G>A	c.(439-441)ctG>ctA	p.L147L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	147						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACGCTTCTCTCAGATCCTCGG	0.502																																						dbGAP											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											85.0	83.0	84.0					17																	7507083		1954	4139	6093	-	-	-	SO:0001819	synonymous_variant	0			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.441G>A	17.37:g.7507083C>T			B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1	p.L147	ENST00000250113.7	37	c.441	CCDS45604.1	17																																																																																			FXR2	-	NULL	ENSG00000129245		0.502	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	HGNC	protein_coding	OTTHUMT00000441084.1	50	0.00	0	C			7507083	7507083	-1	no_errors	ENST00000250113	ensembl	human	known	69_37n	silent	73	10.98	9	SNP	0.995	T
GPR133	283383	genome.wustl.edu	37	12	131616324	131616324	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr12:131616324G>A	ENST00000261654.5	+	21	2789	c.2230G>A	c.(2230-2232)Gac>Aac	p.D744N	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Missense_Mutation_p.D776N|GPR133_ENST00000376682.4_Missense_Mutation_p.D430N|GPR133_ENST00000543617.1_Missense_Mutation_p.D263N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	744					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D744N(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GATCAGCGCCGACAACTACAA	0.577																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											204.0	149.0	167.0					12																	131616324		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2230G>A	12.37:g.131616324G>A	ENSP00000261654:p.Asp744Asn		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D744N	ENST00000261654.5	37	c.2230	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593587	0.46214	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.41758	1.24;1.25;0.99;1.01	4.48	3.58	0.41010	GPCR, family 2-like (1);	0.115379	0.56097	U	0.000027	T	0.25005	0.0607	L	0.33293	1	0.48901	D	0.99972	P;B;B	0.37688	0.605;0.191;0.072	B;B;B	0.28011	0.085;0.031;0.021	T	0.03829	-1.1000	10	0.17832	T	0.49	.	10.3185	0.43751	0.0999:0.0:0.9001:0.0	.	776;97;744	B7ZLF7;Q9NSM3;Q6QNK2	.;.;GP133_HUMAN	N	744;776;430;263	ENSP00000261654:D744N;ENSP00000444425:D776N;ENSP00000365872:D430N;ENSP00000438021:D263N	ENSP00000261654:D744N	D	+	1	0	GPR133	130182277	1.000000	0.71417	0.233000	0.24025	0.985000	0.73830	8.150000	0.89634	0.845000	0.35118	0.491000	0.48974	GAC	GPR133	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000111452		0.577	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	79	0.00	0	G	NM_198827		131616324	131616324	+1	no_errors	ENST00000261654	ensembl	human	known	69_37n	missense	48	42.17	35	SNP	0.998	A
IBTK	25998	genome.wustl.edu	37	6	82936959	82936959	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr6:82936959C>G	ENST00000306270.7	-	5	1153	c.604G>C	c.(604-606)Ggt>Cgt	p.G202R	IBTK_ENST00000503631.1_Missense_Mutation_p.G202R|IBTK_ENST00000510291.1_Missense_Mutation_p.G202R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	202					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGACCATGACCACAGGTATAA	0.383																																						dbGAP											0													114.0	113.0	114.0					6																	82936959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.604G>C	6.37:g.82936959C>G	ENSP00000305721:p.Gly202Arg		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.G202R	ENST00000306270.7	37	c.604	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.085546	0.94100	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	D;D;D	0.99957	-9.0;-9.0;-9.0	5.54	5.54	0.83059	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99225	4.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97139	0.9823	10	0.87932	D	0	-20.5445	19.478	0.94996	0.0:1.0:0.0:0.0	.	202;202;202;202	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	R	202	ENSP00000305721:G202R;ENSP00000422762:G202R;ENSP00000426405:G202R	ENSP00000305721:G202R	G	-	1	0	IBTK	82993678	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.453000	0.80700	2.594000	0.87642	0.591000	0.81541	GGT	IBTK	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000005700		0.383	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	45	0.00	0	C	NM_015525		82936959	82936959	-1	no_errors	ENST00000306270	ensembl	human	known	69_37n	missense	38	33.33	19	SNP	1.000	G
ID3	3399	genome.wustl.edu	37	1	23884532	23884532	+	3'UTR	SNP	A	A	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr1:23884532A>G	ENST00000374561.5	-	0	1127				ID3_ENST00000486541.1_5'Flank	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein						central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAAAACCTATATACTCTATTA	0.373																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.*400T>C	1.37:g.23884532A>G			A8K1T8|O75641	RNA	SNP	-	NULL	ENST00000374561.5	37	NULL	CCDS237.1	1																																																																																			ID3	-	-	ENSG00000117318		0.373	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID3	HGNC	protein_coding	OTTHUMT00000008904.1	48	0.00	0	A	NM_002167		23884532	23884532	-1	no_errors	ENST00000463312	ensembl	human	known	69_37n	rna	49	19.67	12	SNP	1.000	G
IGLV5-45	28781	genome.wustl.edu	37	22	22730821	22730821	+	RNA	SNP	C	C	T	rs200883613	byFrequency	TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr22:22730821C>T	ENST00000390296.2	+	0	344									immunoglobulin lambda variable 5-45																		CTCTGGGCTCCAGTCTGAGGA	0.522																																						dbGAP											0													137.0	132.0	133.0					22																	22730821		1914	4134	6048	-	-	-			0			Z73670		22q11.2	2012-02-08			ENSG00000211650	ENSG00000211650		"""Immunoglobulins / IGL locus"""	5924	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151054		22.37:g.22730821C>T				Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q106*	ENST00000390296.2	37	c.316		22																																																																																			IGLV5-45	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211650		0.522	IGLV5-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV5-45	HGNC	IG_V_gene	OTTHUMT00000321114.2	47	0.00	0	C	NG_000002		22730821	22730821	+1	no_stop_codon	ENST00000390296	ensembl	human	known	69_37n	nonsense	81	10.00	9	SNP	0.237	T
LHX1	3975	genome.wustl.edu	37	17	35298024	35298024	+	Missense_Mutation	SNP	A	A	T			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr17:35298024A>T	ENST00000254457.5	+	3	1926	c.515A>T	c.(514-516)gAc>gTc	p.D172V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	172					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AACGAGAATGACGACCAGAAC	0.642																																						dbGAP											0													48.0	52.0	51.0					17																	35298024		2203	4300	6503	-	-	-	SO:0001583	missense	0			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.515A>T	17.37:g.35298024A>T	ENSP00000254457:p.Asp172Val		Q3MIW0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.D172V	ENST00000254457.5	37	c.515	CCDS11316.1	17	.	.	.	.	.	.	.	.	.	.	A	18.33	3.600006	0.66332	.	.	ENSG00000132130	ENST00000254457	D	0.95518	-3.73	4.26	4.26	0.50523	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94843	0.8334	L	0.38175	1.15	0.80722	D	1	P;D	0.63880	0.82;0.993	B;P	0.55455	0.344;0.776	D	0.95197	0.8313	10	0.62326	D	0.03	.	14.4308	0.67249	1.0:0.0:0.0:0.0	.	158;172	B4DPA6;P48742	.;LHX1_HUMAN	V	172	ENSP00000254457:D172V	ENSP00000254457:D172V	D	+	2	0	LHX1	32372137	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.310000	0.78947	2.139000	0.66308	0.459000	0.35465	GAC	LHX1	-	superfamily_Homeodomain-like	ENSG00000132130		0.642	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	HGNC	protein_coding	OTTHUMT00000256704.3	50	0.00	0	A	NM_005568		35298024	35298024	+1	no_errors	ENST00000254457	ensembl	human	known	69_37n	missense	43	32.81	21	SNP	1.000	T
LILRA6	79168	genome.wustl.edu	37	19	54745497	54745497	+	Missense_Mutation	SNP	G	G	A	rs146470981		TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr19:54745497G>A	ENST00000396365.2	-	4	652	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.R205W|LILRA6_ENST00000419410.2_Missense_Mutation_p.R205W|LILRA6_ENST00000440558.2_Missense_Mutation_p.R205W|LILRA6_ENST00000270464.5_Missense_Mutation_p.R205W|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	205					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACACCCGGGGGGTGTTT	0.617																																						dbGAP											0													52.0	58.0	56.0					19																	54745497		1987	4041	6028	-	-	-	SO:0001583	missense	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.613C>T	19.37:g.54745497G>A	ENSP00000379651:p.Arg205Trp			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R205W	ENST00000396365.2	37	c.613	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653694	0.14580	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T	0.00737	5.76;5.76;5.76;5.76;5.76	2.38	0.972	0.19704	Immunoglobulin-like fold (1);	1.294080	0.05328	N	0.527713	T	0.00875	0.0029	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.14012	0.009;0.007;0.004;0.005	B;B;B;B	0.11329	0.004;0.006;0.0;0.003	T	0.47799	-0.9089	10	0.49607	T	0.09	.	4.4216	0.11482	0.2737:0.0:0.7263:0.0	.	205;205;205;205	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	W	205	ENSP00000390120:R205W;ENSP00000270464:R205W;ENSP00000411227:R205W;ENSP00000379651:R205W;ENSP00000245621:R205W	ENSP00000245621:R205W	R	-	1	2	LILRA6	59437309	0.000000	0.05858	0.017000	0.16124	0.103000	0.19146	0.029000	0.13666	0.312000	0.23038	0.162000	0.16502	CGG	LILRA6	-	NULL	ENSG00000244482		0.617	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	26	0.00	0	G	NM_024318		54745497	54745497	-1	no_errors	ENST00000270464	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.022	A
LPIN1	23175	genome.wustl.edu	37	2	11922610	11922610	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr2:11922610C>T	ENST00000256720.2	+	7	1226	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M	LPIN1_ENST00000449576.2_Missense_Mutation_p.T463M|LPIN1_ENST00000396099.1_Missense_Mutation_p.T420M|LPIN1_ENST00000425416.2_Missense_Mutation_p.T384M|LPIN1_ENST00000396098.1_Missense_Mutation_p.T420M|LPIN1_ENST00000396097.1_Missense_Mutation_p.T108M	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	378					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCAAACAAGACGGATTCTCCT	0.527																																						dbGAP											0													66.0	70.0	68.0					2																	11922610		2203	4300	6503	-	-	-	SO:0001583	missense	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1133C>T	2.37:g.11922610C>T	ENSP00000256720:p.Thr378Met		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.T463M	ENST00000256720.2	37	c.1388	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226208	0.39300	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.28	2.46	0.29980	.	0.403038	0.30840	N	0.008772	T	0.65059	0.2655	M	0.68952	2.095	0.80722	D	1	P;B;B	0.39443	0.674;0.181;0.07	B;B;B	0.35770	0.21;0.042;0.042	T	0.65747	-0.6093	10	0.48119	T	0.1	-6.7997	11.4178	0.49962	0.0:0.7902:0.0:0.2098	.	463;378;420	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	M	463;420;420;384;378;108	ENSP00000397908:T463M;ENSP00000379405:T420M;ENSP00000379406:T420M;ENSP00000401522:T384M;ENSP00000256720:T378M;ENSP00000379404:T108M	ENSP00000256720:T378M	T	+	2	0	LPIN1	11840061	0.000000	0.05858	0.077000	0.20336	0.180000	0.23129	-0.209000	0.09358	0.731000	0.32448	-0.150000	0.13652	ACG	LPIN1	-	NULL	ENSG00000134324		0.527	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	19	0.00	0	C	NM_145693		11922610	11922610	+1	no_errors	ENST00000449576	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	0.924	T
MKNK2	2872	genome.wustl.edu	37	19	2042015	2042015	+	Missense_Mutation	SNP	T	T	C	rs559059439		TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr19:2042015T>C	ENST00000591601.1	-	10	804	c.769A>G	c.(769-771)Atg>Gtg	p.M257V	MKNK2_ENST00000591142.1_Start_Codon_SNP_p.M1V|MKNK2_ENST00000588014.1_Start_Codon_SNP_p.M1V|MKNK2_ENST00000541165.1_Missense_Mutation_p.M126V|MKNK2_ENST00000591588.1_Start_Codon_SNP_p.M1V|MKNK2_ENST00000250896.3_Missense_Mutation_p.M257V|MKNK2_ENST00000309340.7_Missense_Mutation_p.M257V			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGGGCCATGTACTCCGCC	0.657																																						dbGAP											0													17.0	14.0	15.0					19																	2042015		2139	4222	6361	-	-	-	SO:0001583	missense	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.769A>G	19.37:g.2042015T>C	ENSP00000467811:p.Met257Val		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.M257V	ENST00000591601.1	37	c.769	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376443	0.82682	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.43688	0.94;0.94;0.94	4.03	4.03	0.46877	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	N	0.16602	0.42	0.80722	D	1	P;P;P;P	0.43973	0.742;0.815;0.823;0.742	P;P;P;P	0.56563	0.597;0.679;0.801;0.67	T	0.35475	-0.9787	10	0.42905	T	0.14	-11.1914	12.2896	0.54810	0.0:0.0:0.0:1.0	.	62;257;257;159	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	V	257;257;126;197	ENSP00000309485:M257V;ENSP00000250896:M257V;ENSP00000438904:M126V	ENSP00000250896:M257V	M	-	1	0	MKNK2	1993015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.637000	0.83313	1.685000	0.51034	0.454000	0.30748	ATG	MKNK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000099875		0.657	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	14	0.00	0	T	NM_199054		2042015	2042015	-1	no_errors	ENST00000250896	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	C
NBN	4683	genome.wustl.edu	37	8	90965699	90965699	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr8:90965699G>A	ENST00000265433.3	-	11	1772	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	NBN_ENST00000409330.1_Missense_Mutation_p.H458Y	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	540					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCTGCAGCATGAGATTTACTG	0.348								Homologous recombination																														dbGAP											0													166.0	161.0	163.0					8																	90965699		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1618C>T	8.37:g.90965699G>A	ENSP00000265433:p.His540Tyr		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.H540Y	ENST00000265433.3	37	c.1618	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	G	0	-2.763271	0.00082	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58060	1.99;0.36	5.29	0.188	0.15114	.	1.138830	0.06199	N	0.682997	T	0.25082	0.0609	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.06405	0.002;0.002	T	0.20009	-1.0288	10	0.02654	T	1	-1.1103	4.5189	0.11949	0.3572:0.1557:0.4871:0.0	.	540;540	A6H8Y5;O60934	.;NBN_HUMAN	Y	540;458	ENSP00000265433:H540Y;ENSP00000386924:H458Y	ENSP00000265433:H540Y	H	-	1	0	NBN	91034875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.136000	0.10405	-0.041000	0.13558	-0.157000	0.13467	CAT	NBN	-	pirsf_Nibrin_met	ENSG00000104320		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	53	0.00	0	G	NM_001024688		90965699	90965699	-1	no_errors	ENST00000265433	ensembl	human	known	69_37n	missense	64	34.02	33	SNP	0.000	A
PACSIN3	29763	genome.wustl.edu	37	11	47200771	47200771	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr11:47200771T>C	ENST00000539589.1	-	8	1181	c.839A>G	c.(838-840)gAt>gGt	p.D280G	ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.D280G|ARFGAP2_ENST00000419701.2_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	280	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CCAGCGCAGATCCTCTTCGTC	0.612																																						dbGAP											0													104.0	101.0	102.0					11																	47200771		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.839A>G	11.37:g.47200771T>C	ENSP00000440945:p.Asp280Gly		A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,prints_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.D280G	ENST00000539589.1	37	c.839	CCDS31481.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.288230|4.288230	0.80803|0.80803	.|.	.|.	ENSG00000165912|ENSG00000165912	ENST00000298838;ENST00000539589;ENST00000528462|ENST00000415232	T;T;T|.	0.31769|.	1.48;1.48;1.48|.	5.24|5.24	4.09|4.09	0.47781|0.47781	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77638|0.77638	0.4160|0.4160	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|T	0.80476|0.80476	-0.1366|-0.1366	10|6	0.72032|0.87932	D|D	0.01|0	-14.9893|-14.9893	11.7196|11.7196	0.51675|0.51675	0.1324:0.0:0.0:0.8676|0.1324:0.0:0.0:0.8676	.|.	280|.	Q9UKS6|.	PACN3_HUMAN|.	G|V	280|279	ENSP00000298838:D280G;ENSP00000440945:D280G;ENSP00000437252:D280G|.	ENSP00000298838:D280G|ENSP00000405352:I279V	D|I	-|-	2|1	0|0	PACSIN3|PACSIN3	47157347|47157347	1.000000|1.000000	0.71417|0.71417	0.794000|0.794000	0.32065|0.32065	0.995000|0.995000	0.86356|0.86356	4.250000|4.250000	0.58772|0.58772	0.907000|0.907000	0.36646|0.36646	0.533000|0.533000	0.62120|0.62120	GAT|ATC	PACSIN3	-	NULL	ENSG00000165912		0.612	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN3	HGNC	protein_coding	OTTHUMT00000391632.1	39	0.00	0	T	NM_016223		47200771	47200771	-1	no_errors	ENST00000298838	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	1.000	C
PCDHB13	56123	genome.wustl.edu	37	5	140594909	140594909	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr5:140594909C>T	ENST00000341948.4	+	1	1401	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T405M(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTACTAACGGAGAGACCA	0.453																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											89.0	86.0	87.0					5																	140594909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1214C>T	5.37:g.140594909C>T	ENSP00000345491:p.Thr405Met		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T405M	ENST00000341948.4	37	c.1214	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	N	15.14	2.744396	0.49151	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01838	4.61	3.5	3.5	0.40072	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.24198	0.0586	H	0.99475	4.585	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.37502	-0.9703	9	0.87932	D	0	.	10.0358	0.42129	0.0:0.8948:0.0:0.1052	.	405	Q9Y5F0	PCDBD_HUMAN	M	405	ENSP00000345491:T405M	ENSP00000345491:T405M	T	+	2	0	PCDHB13	140575093	0.128000	0.22383	0.005000	0.12908	0.130000	0.20726	1.982000	0.40638	1.671000	0.50874	0.298000	0.19748	ACG	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.453	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	61	0.00	0	C	NM_018933		140594909	140594909	+1	no_errors	ENST00000341948	ensembl	human	known	69_37n	missense	76	12.64	11	SNP	0.034	T
PLA2G4D	283748	genome.wustl.edu	37	15	42361019	42361019	+	Missense_Mutation	SNP	A	A	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr15:42361019A>G	ENST00000290472.3	-	20	2445	c.2351T>C	c.(2350-2352)cTc>cCc	p.L784P		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	784	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GTAGTCACTGAGCCGCAGCAG	0.642																																						dbGAP											0													49.0	38.0	41.0					15																	42361019		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.2351T>C	15.37:g.42361019A>G	ENSP00000290472:p.Leu784Pro		Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L784P	ENST00000290472.3	37	c.2351	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365124	0.41902	.	.	ENSG00000159337	ENST00000290472	T	0.05649	3.41	4.65	4.65	0.58169	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.000000	0.53938	D	0.000060	T	0.31482	0.0798	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.32561	-0.9902	10	0.87932	D	0	-22.6768	13.0824	0.59121	1.0:0.0:0.0:0.0	.	784	Q86XP0	PA24D_HUMAN	P	784	ENSP00000290472:L784P	ENSP00000290472:L784P	L	-	2	0	PLA2G4D	40148311	1.000000	0.71417	0.327000	0.25402	0.013000	0.08279	6.355000	0.73041	1.728000	0.51552	0.533000	0.62120	CTC	PLA2G4D	-	superfamily_Acyl_Trfase/lysoPLipase,pfscan_LysoPLipase_cat_dom	ENSG00000159337		0.642	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	47	0.00	0	A	NM_178034		42361019	42361019	-1	no_errors	ENST00000290472	ensembl	human	known	69_37n	missense	40	35.48	22	SNP	0.951	G
PTEN	5728	genome.wustl.edu	37	10	89692792	89692792	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr10:89692792C>G	ENST00000371953.3	+	5	1633	c.276C>G	c.(274-276)gaC>gaG	p.D92E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	92	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D92E(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGAAGACCATAACCCAC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(2)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	GRCh37	CM033666	PTEN	M							112.0	102.0	105.0					10																	89692792		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.276C>G	10.37:g.89692792C>G	ENSP00000361021:p.Asp92Glu		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D92E	ENST00000371953.3	37	c.276	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984614	0.74474	.	.	ENSG00000171862	ENST00000371953	D	0.99422	-5.88	5.07	1.09	0.20402	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99764	1.1022	9	.	.	.	-9.7034	9.9879	0.41852	0.0:0.7188:0.0:0.2812	.	92	P60484	PTEN_HUMAN	E	92	ENSP00000361021:D92E	.	D	+	3	2	PTEN	89682772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.304000	0.43655	0.169000	0.19679	0.655000	0.94253	GAC	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	43	0.00	0	C	NM_000314		89692792	89692792	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	42	38.24	26	SNP	1.000	G
ROCK1	6093	genome.wustl.edu	37	18	18546962	18546962	+	Silent	SNP	A	A	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr18:18546962A>G	ENST00000399799.2	-	27	4208	c.3268T>C	c.(3268-3270)Ttg>Ctg	p.L1090L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1090					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTAGCACGCAATTGCTCAATA	0.393																																						dbGAP											0													171.0	152.0	159.0					18																	18546962		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3268T>C	18.37:g.18546962A>G			B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L1090	ENST00000399799.2	37	c.3268	CCDS11870.2	18																																																																																			ROCK1	-	pirsf_Rho-assoc_coiled-coil_kinase	ENSG00000067900		0.393	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	25	0.00	0	A	NM_005406		18546962	18546962	-1	no_errors	ENST00000399799	ensembl	human	known	69_37n	silent	31	29.55	13	SNP	0.943	G
SEC23IP	11196	genome.wustl.edu	37	10	121685689	121685689	+	Missense_Mutation	SNP	G	G	T	rs118110471	byFrequency	TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr10:121685689G>T	ENST00000369075.3	+	13	2335	c.2263G>T	c.(2263-2265)Gtg>Ttg	p.V755L	SEC23IP_ENST00000543134.1_Missense_Mutation_p.V544L	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	755					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGGTGCTTGCGTGTCTTCTGT	0.443																																						dbGAP											0													174.0	165.0	168.0					10																	121685689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2263G>T	10.37:g.121685689G>T	ENSP00000358071:p.Val755Leu		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.V755L	ENST00000369075.3	37	c.2263	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662118	0.29515	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.31247	1.5;1.53	5.71	4.81	0.61882	.	0.254958	0.40385	N	0.001101	T	0.27798	0.0684	M	0.64997	1.995	0.36426	D	0.864633	P;P	0.39696	0.683;0.666	B;B	0.33960	0.173;0.118	T	0.28073	-1.0055	10	0.10902	T	0.67	-15.0101	14.796	0.69878	0.0694:0.0:0.9306:0.0	.	544;755	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	L	755;544	ENSP00000358071:V755L;ENSP00000438773:V544L	ENSP00000358071:V755L	V	+	1	0	SEC23IP	121675679	1.000000	0.71417	0.027000	0.17364	0.434000	0.31775	3.527000	0.53517	1.424000	0.47217	0.591000	0.81541	GTG	SEC23IP	-	NULL	ENSG00000107651		0.443	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	47	0.00	0	G			121685689	121685689	+1	no_errors	ENST00000369075	ensembl	human	known	69_37n	missense	61	25.61	21	SNP	0.522	T
SOX6	55553	genome.wustl.edu	37	11	16068116	16068116	+	Missense_Mutation	SNP	C	C	T	rs562385252		TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr11:16068116C>T	ENST00000352083.6	-	12	1644	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	SOX6_ENST00000316399.6_Missense_Mutation_p.D523N|SOX6_ENST00000528429.1_Missense_Mutation_p.D523N|SOX6_ENST00000528252.1_Missense_Mutation_p.D496N|SOX6_ENST00000396356.3_Missense_Mutation_p.D523N|SOX6_ENST00000527619.1_Missense_Mutation_p.D499N			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	523					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGTTTCCCGTCAACACCATGT	0.493																																						dbGAP											0													132.0	118.0	123.0					11																	16068116		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1567G>A	11.37:g.16068116C>T	ENSP00000339876:p.Asp523Asn		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D523N	ENST00000352083.6	37	c.1567		11	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769304	0.90020	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98400	-4.91;-4.76;-4.91;-4.88;-4.89;-4.76	5.81	5.81	0.92471	.	0.094628	0.64402	D	0.000001	D	0.98560	0.9519	L	0.49778	1.585	0.58432	D	0.999993	P;P;D	0.71674	0.692;0.588;0.998	P;P;D	0.78314	0.466;0.517;0.991	D	0.99845	1.1065	10	0.66056	D	0.02	.	20.0714	0.97726	0.0:1.0:0.0:0.0	.	523;523;499	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	N	523;523;523;496;499;523	ENSP00000324948:D523N;ENSP00000339876:D523N;ENSP00000379644:D523N;ENSP00000432134:D496N;ENSP00000434455:D499N;ENSP00000433233:D523N	ENSP00000324948:D523N	D	-	1	0	SOX6	16024692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.395000	0.79876	2.750000	0.94351	0.585000	0.79938	GAC	SOX6	-	NULL	ENSG00000110693		0.493	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	49	0.00	0	C	NM_033326		16068116	16068116	-1	no_errors	ENST00000352083	ensembl	human	known	69_37n	missense	59	26.25	21	SNP	1.000	T
VAPB	9217	genome.wustl.edu	37	20	57020778	57020778	+	3'UTR	SNP	A	A	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr20:57020778A>G	ENST00000475243.1	+	0	2557				VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			gtgtgtgtgtATTTTTTTTTT	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.*1487A>G	20.37:g.57020778A>G			A2A2F2|O95293|Q9P0H0	RNA	SNP	-	NULL	ENST00000475243.1	37	NULL	CCDS33498.1	20																																																																																			VAPB	-	-	ENSG00000124164		0.408	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2	8	0.00	0	A			57020778	57020778	+1	no_errors	ENST00000265619	ensembl	human	known	69_37n	rna	12	36.84	7	SNP	0.000	G
ZSCAN25	221785	genome.wustl.edu	37	7	99227520	99227520	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A5PV-01A-11D-A28B-09	TCGA-GM-A5PV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c57857aa-d6e1-49a2-9dac-582b21271cb2	d5e127a9-672f-4833-94ec-63393bcc0079	g.chr7:99227520C>G	ENST00000394152.2	+	8	1839	c.1512C>G	c.(1510-1512)caC>caG	p.H504Q	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H504Q|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H432Q	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	504					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGGTCCGACACCAGAGAATCC	0.632																																						dbGAP											0													63.0	48.0	53.0					7																	99227520		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1512C>G	7.37:g.99227520C>G	ENSP00000377708:p.His504Gln		A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H504Q	ENST00000394152.2	37	c.1512	CCDS5671.2	7	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525714	0.64860	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	D;D;D	0.86865	-2.18;-2.18;-2.18	4.49	3.61	0.41365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000176	D	0.94735	0.8301	H	0.95294	3.65	0.37359	D	0.911136	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.96067	0.9043	10	0.87932	D	0	-21.1537	10.6398	0.45586	0.0:0.9026:0.0:0.0974	.	432;504	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	Q	504;504;432	ENSP00000377708:H504Q;ENSP00000334800:H504Q;ENSP00000262941:H432Q	ENSP00000262941:H432Q	H	+	3	2	ZNF498	99065456	0.335000	0.24748	1.000000	0.80357	0.995000	0.86356	0.099000	0.15210	1.187000	0.43000	0.555000	0.69702	CAC	ZNF498	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197037		0.632	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF498	HGNC	protein_coding	OTTHUMT00000157203.4	87	0.00	0	C	NM_145115		99227520	99227520	+1	no_errors	ENST00000334715	ensembl	human	known	69_37n	missense	67	34.31	35	SNP	1.000	G
