#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
BMPR1B	658	genome.wustl.edu	37	4	96052584	96052584	+	Silent	SNP	C	C	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr4:96052584C>T	ENST00000515059.1	+	10	1280	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	BMPR1B_ENST00000394931.1_Silent_p.L333L|BMPR1B_ENST00000440890.2_Silent_p.L363L|BMPR1B_ENST00000264568.4_Silent_p.L333L	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCATCGAGATCTGAAAAGTAA	0.383																																						dbGAP											0													88.0	85.0	86.0					4																	96052584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.997C>T	4.37:g.96052584C>T			B2R953|B4DSV1|P78366	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.L363	ENST00000515059.1	37	c.1087	CCDS3642.1	4																																																																																			BMPR1B	-	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	ENSG00000138696		0.383	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	297	0.00	0	C	NM_001203		96052584	96052584	+1	no_errors	ENST00000440890	ensembl	human	known	69_37n	silent	206	27.21	77	SNP	1.000	T
COL7A1	1294	genome.wustl.edu	37	3	48625779	48625779	+	Silent	SNP	C	C	A			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr3:48625779C>A	ENST00000328333.8	-	20	2753	c.2646G>T	c.(2644-2646)tcG>tcT	p.S882S	COL7A1_ENST00000454817.1_Silent_p.S882S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	882	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGCCTCAGCGAGTGCTCCC	0.662																																						dbGAP											0													22.0	25.0	24.0					3																	48625779		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2646G>T	3.37:g.48625779C>A			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S882	ENST00000328333.8	37	c.2646	CCDS2773.1	3																																																																																			COL7A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000114270		0.662	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	13	0.00	0	C	NM_000094		48625779	48625779	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	silent	1	80.00	4	SNP	0.057	A
COL9A1	1297	genome.wustl.edu	37	6	70990716	70990717	+	Frame_Shift_Ins	INS	-	-	G	rs267601106|rs192047082	byFrequency	TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr6:70990716_70990717insG	ENST00000357250.6	-	9	1060_1061	c.902_903insC	c.(901-903)ccgfs	p.P301fs	COL9A1_ENST00000370499.4_Frame_Shift_Ins_p.P58fs|COL9A1_ENST00000370496.3_Frame_Shift_Ins_p.P301fs|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000320755.7_Frame_Shift_Ins_p.P58fs	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	301	Collagen-like 1.|Triple-helical region (COL3).				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						CCGGGGGGCCCGGGGGGCCCTT	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.903dupC	6.37:g.70990722_70990722dupG	ENSP00000349790:p.Pro301fs		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Frame_Shift_Ins	INS	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.P306fs	ENST00000357250.6	37	c.903_902	CCDS4971.1	6																																																																																			COL9A1	-	pfam_Collagen	ENSG00000112280		0.574	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	33	0.00	0	-			70990716	70990717	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	frame_shift_ins	6	25.00	2	INS	0.025:0.983	G
CPT1A	1374	genome.wustl.edu	37	11	68574941	68574941	+	Silent	SNP	G	G	A			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr11:68574941G>A	ENST00000265641.5	-	4	601	c.447C>T	c.(445-447)atC>atT	p.I149I	CPT1A_ENST00000376618.2_Silent_p.I149I|CPT1A_ENST00000540367.1_Silent_p.I149I|CPT1A_ENST00000539743.1_Silent_p.I149I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	149					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TTACCATCCAGATCTTGGTGG	0.582																																						dbGAP											0													161.0	116.0	131.0					11																	68574941		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.447C>T	11.37:g.68574941G>A			Q8TCU0|Q9BWK0	Silent	SNP	pfam_Carn_acyl_trans	p.I149	ENST00000265641.5	37	c.447	CCDS8185.1	11																																																																																			CPT1A	-	NULL	ENSG00000110090		0.582	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	16	0.00	0	G	NM_001876		68574941	68574941	-1	no_errors	ENST00000265641	ensembl	human	known	69_37n	silent	8	42.86	6	SNP	0.983	A
CSMD1	64478	genome.wustl.edu	37	8	2910130	2910130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr8:2910130G>T	ENST00000520002.1	-	51	8072	c.7517C>A	c.(7516-7518)tCa>tAa	p.S2506*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S2506*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S2506*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S2505*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S2505*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S2506*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2506	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCGGTAAATGAACCGTTTCC	0.423																																						dbGAP											0													50.0	47.0	48.0					8																	2910130		1857	4107	5964	-	-	-	SO:0001587	stop_gained	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7517C>A	8.37:g.2910130G>T	ENSP00000430733:p.Ser2506*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S2506*	ENST00000520002.1	37	c.7517		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	48|48	14.799369|14.799369	0.99810|0.99810	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.175369	.|0.40064	.|N	.|0.001200	T|.	0.68495|.	0.3007|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.62358|.	-0.6871|.	4|.	.|0.21540	.|T	.|0.41	.|.	18.9479|18.9479	0.92628|0.92628	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	1922|2506;2506;2367;2505;2505	.|.	.|ENSP00000320445:S2367X	F|S	-|-	3|2	2|0	CSMD1|CSMD1	2897537|2897537	1.000000|1.000000	0.71417|0.71417	0.257000|0.257000	0.24404|0.24404	0.080000|0.080000	0.17528|0.17528	5.809000|5.809000	0.69172|0.69172	2.516000|2.516000	0.84829|0.84829	0.650000|0.650000	0.86243|0.86243	TTC|TCA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.423	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	39	0.00	0	G	NM_033225		2910130	2910130	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	nonsense	31	32.61	15	SNP	0.987	T
CSMD1	64478	genome.wustl.edu	37	8	3245175	3245175	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr8:3245175C>G	ENST00000520002.1	-	19	3181	c.2626G>C	c.(2626-2628)Gac>Cac	p.D876H	CSMD1_ENST00000602723.1_Missense_Mutation_p.D876H|CSMD1_ENST00000400186.3_Missense_Mutation_p.D876H|CSMD1_ENST00000542608.1_Missense_Mutation_p.D875H|CSMD1_ENST00000537824.1_Missense_Mutation_p.D875H|CSMD1_ENST00000602557.1_Missense_Mutation_p.D876H|CSMD1_ENST00000539096.1_Missense_Mutation_p.D875H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	876	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGCCCGGGTCCAGGCAGGAA	0.542																																						dbGAP											0													34.0	40.0	38.0					8																	3245175		2095	4215	6310	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2626G>C	8.37:g.3245175C>G	ENSP00000430733:p.Asp876His		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D876H	ENST00000520002.1	37	c.2626		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.448892|4.448892	0.84101|0.84101	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18;-0.18|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69708|0.69708	0.3141|0.3141	L|L	0.49699|0.49699	1.58|1.58	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.993;0.999|.	D;D;D|.	0.91635|.	0.999;0.991;0.967|.	T|T	0.66964|0.66964	-0.5790|-0.5790	10|5	0.56958|.	D|.	0.05|.	.|.	18.5306|18.5306	0.90990|0.90990	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	876;876;876|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	H|A	876;876;738;875;875;875|355	ENSP00000383047:D876H;ENSP00000430733:D876H;ENSP00000441462:D875H;ENSP00000446243:D875H;ENSP00000441675:D875H|.	ENSP00000320445:D738H|.	D|G	-|-	1|2	0|0	CSMD1|CSMD1	3232582|3232582	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.666000|0.666000	0.39218|0.39218	7.630000|7.630000	0.83225|0.83225	2.374000|2.374000	0.81015|0.81015	0.650000|0.650000	0.86243|0.86243	GAC|GGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	15	0.00	0	C	NM_033225		3245175	3245175	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	1.000	G
DNAH11	8701	genome.wustl.edu	37	7	21784508	21784508	+	Silent	SNP	G	G	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr7:21784508G>T	ENST00000409508.3	+	51	8368	c.8337G>T	c.(8335-8337)ctG>ctT	p.L2779L	DNAH11_ENST00000328843.6_Silent_p.L2786L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2786					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCACATGCTGCTTCAACAGC	0.488									Kartagener syndrome																													dbGAP											0													71.0	66.0	68.0					7																	21784508		1981	4174	6155	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8337G>T	7.37:g.21784508G>T			Q9UJ82	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L2786	ENST00000409508.3	37	c.8358		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.488	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	27	0.00	0	G	NM_003777		21784508	21784508	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	silent	12	40.00	8	SNP	0.836	T
EID3	493861	genome.wustl.edu	37	12	104698208	104698208	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr12:104698208G>A	ENST00000527879.1	+	1	692	c.496G>A	c.(496-498)Gag>Aag	p.E166K	TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGTAAAAGCTGAGACATTCCA	0.428																																						dbGAP											0													200.0	197.0	198.0					12																	104698208		1937	4145	6082	-	-	-	SO:0001583	missense	0			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.496G>A	12.37:g.104698208G>A	ENSP00000435619:p.Glu166Lys			Missense_Mutation	SNP	pfam_Nse4	p.E166K	ENST00000527879.1	37	c.496	CCDS53822.1	12	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827581	0.50845	.	.	ENSG00000255150	ENST00000527879	T	0.42900	0.96	4.82	1.75	0.24633	.	.	.	.	.	T	0.42765	0.1217	L	0.51422	1.61	0.09310	N	1	P	0.46621	0.881	P	0.50270	0.636	T	0.18335	-1.0340	9	0.36615	T	0.2	.	6.4222	0.21750	0.0982:0.3601:0.5417:0.0	.	166	Q8N140	EID3_HUMAN	K	166	ENSP00000435619:E166K	ENSP00000435619:E166K	E	+	1	0	EID3	103222338	0.045000	0.20229	0.012000	0.15200	0.023000	0.10783	0.972000	0.29409	0.739000	0.32628	0.555000	0.69702	GAG	EID3	-	pfam_Nse4	ENSG00000255150		0.428	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID3	HGNC	protein_coding	OTTHUMT00000387034.1	222	0.00	0	G	NM_001008394		104698208	104698208	+1	no_errors	ENST00000527879	ensembl	human	known	69_37n	missense	112	24.32	36	SNP	0.002	A
EIF4G3	8672	genome.wustl.edu	37	1	21306904	21306905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr1:21306904_21306905insG	ENST00000264211.8	-	4	441_442	c.247_248insC	c.(247-249)caafs	p.Q83fs	EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.Q83fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.Q94fs|EIF4G3_ENST00000602326.1_Frame_Shift_Ins_p.Q90fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.Q90fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.Q83fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.Q83fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	83					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGATATTGTTGGGGGGGCCCA	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.248dupC	1.37:g.21306911_21306911dupG	ENSP00000264211:p.Gln83fs		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Ins	INS	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.Q90fs	ENST00000264211.8	37	c.269_268	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.441	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	28	0.00	0	-	NM_003760		21306904	21306905	-1	no_errors	ENST00000374937	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	1.000:1.000	G
EXPH5	23086	genome.wustl.edu	37	11	108383532	108383532	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr11:108383532G>A	ENST00000265843.4	-	6	2812	c.2702C>T	c.(2701-2703)cCa>cTa	p.P901L	EXPH5_ENST00000428840.1_Missense_Mutation_p.P825L|EXPH5_ENST00000525344.1_Missense_Mutation_p.P894L|EXPH5_ENST00000443411.1_Missense_Mutation_p.P713L|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	901					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGTAGTAGATGGAACCACAGG	0.453																																						dbGAP											0													169.0	155.0	159.0					11																	108383532		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2702C>T	11.37:g.108383532G>A	ENSP00000265843:p.Pro901Leu		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.P901L	ENST00000265843.4	37	c.2702	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844646	0.71488	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.14022	3.94;3.85;3.71;3.94;3.74;2.54	5.59	2.52	0.30459	.	0.350255	0.24988	N	0.034018	T	0.16896	0.0406	M	0.69823	2.125	0.09310	N	1	P	0.46142	0.873	B	0.42282	0.382	T	0.10042	-1.0647	10	0.72032	D	0.01	-3.012	8.5225	0.33285	0.0835:0.4593:0.4572:0.0	.	901	Q8NEV8	EXPH5_HUMAN	L	901;825;713;894;825;713	ENSP00000265843:P901L;ENSP00000391966:P825L;ENSP00000411390:P713L;ENSP00000432546:P894L;ENSP00000432683:P825L;ENSP00000446434:P713L	ENSP00000265843:P901L	P	-	2	0	EXPH5	107888742	0.000000	0.05858	0.024000	0.17045	0.312000	0.27988	0.152000	0.16302	0.756000	0.33013	0.563000	0.77884	CCA	EXPH5	-	NULL	ENSG00000110723		0.453	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	275	0.36	1	G	NM_015065		108383532	108383532	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	missense	121	40.20	82	SNP	0.001	A
FOXE3	2301	genome.wustl.edu	37	1	47882383	47882384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr1:47882383_47882384insC	ENST00000335071.2	+	1	640_641	c.396_397insC	c.(397-399)cccfs	p.P133fs		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	133					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		TCGTCAAGGTGCCCCGCGAGCC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.400dupC	1.37:g.47882387_47882387dupC	ENSP00000334472:p.Pro133fs		Q5SVY9|Q9NQV9	Frame_Shift_Ins	INS	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R133fs	ENST00000335071.2	37	c.396_397	CCDS550.1	1																																																																																			FOXE3	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000186790		0.653	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXE3	HGNC	protein_coding	OTTHUMT00000021836.1	25	0.00	0	-	NM_012186		47882383	47882384	+1	no_errors	ENST00000335071	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.991:1.000	C
F5	2153	genome.wustl.edu	37	1	169511852	169511852	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr1:169511852C>T	ENST00000367797.3	-	13	2677	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	F5_ENST00000367796.3_Missense_Mutation_p.E831K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	826	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGGAATGCTCTGCTGTGGAA	0.488																																						dbGAP											0													170.0	167.0	168.0					1																	169511852		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2476G>A	1.37:g.169511852C>T	ENSP00000356771:p.Glu826Lys		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E831K	ENST00000367797.3	37	c.2491	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064678	0.55432	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.23950	1.88;1.88	5.97	0.261	0.15592	.	0.890844	0.09747	N	0.761179	T	0.05731	0.0150	L	0.39898	1.24	0.21473	N	0.999677	B	0.21071	0.051	B	0.14023	0.01	T	0.37798	-0.9690	9	0.25106	T	0.35	-4.8519	3.2371	0.06768	0.1232:0.5247:0.1205:0.2315	.	826	P12259	FA5_HUMAN	K	826;831	ENSP00000356771:E826K;ENSP00000356770:E831K	ENSP00000356770:E831K	E	-	1	0	F5	167778476	0.001000	0.12720	0.005000	0.12908	0.694000	0.40290	0.213000	0.17521	0.129000	0.18514	0.585000	0.79938	GAG	F5	-	NULL	ENSG00000198734		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	383	0.00	0	C	NM_000130		169511852	169511852	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	428	21.53	118	SNP	0.003	T
GDF5	8200	genome.wustl.edu	37	20	34025503	34025504	+	Frame_Shift_Ins	INS	-	-	C	rs374059504|rs542574339		TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr20:34025503_34025504insC	ENST00000374372.1	-	3	708_709	c.205_206insG	c.(205-207)gccfs	p.A69fs	GDF5_ENST00000374369.3_Frame_Shift_Ins_p.A69fs			P43026	GDF5_HUMAN	growth differentiation factor 5	69					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGCATTGGTGGCCCCCCCACCA	0.663																																						dbGAP											0			GRCh37	CI972616	GDF5	I																																				-	-	-	SO:0001589	frameshift_variant	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.206dupG	20.37:g.34025510_34025510dupC	ENSP00000363492:p.Ala69fs		E1P5Q2|Q96SB1	Frame_Shift_Ins	INS	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.A69fs	ENST00000374372.1	37	c.206_205	CCDS13254.1	20																																																																																			GDF5	-	NULL	ENSG00000125965		0.663	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	23	0.00	0	-			34025503	34025504	-1	no_errors	ENST00000374369	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.007:0.002	C
GPS2	2874	genome.wustl.edu	37	17	7217872	7217875	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	CTTC	CTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr17:7217872_7217875delCTTC	ENST00000380728.2	-	3	436_439	c.136_139delGAAG	c.(136-141)gaagaafs	p.EE46fs	GPS2_ENST00000391950.3_Frame_Shift_Del_p.EE46fs|NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Frame_Shift_Del_p.EE46fs			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	46					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ctctcctgttcttccttcatcttc	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.136_139delGAAG	17.37:g.7217876_7217879delCTTC	ENSP00000370104:p.Glu46fs		B4DXA1|Q6FHM8	Frame_Shift_Del	DEL	NULL	p.E46fs	ENST00000380728.2	37	c.139_136	CCDS11100.1	17																																																																																			GPS2	-	NULL	ENSG00000132522		0.426	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4	150	0.00	0	CTTC	NM_004489		7217872	7217875	-1	no_errors	ENST00000380728	ensembl	human	known	69_37n	frame_shift_del	29	36.96	17	DEL	1.000:0.999:1.000:1.000	-
IL18RAP	8807	genome.wustl.edu	37	2	103040327	103040327	+	Missense_Mutation	SNP	G	G	C	rs369898608	byFrequency	TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr2:103040327G>C	ENST00000264260.2	+	4	716	c.127G>C	c.(127-129)Gtc>Ctc	p.V43L	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	43					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGAGGAATTTGTCTTATTTTG	0.388																																						dbGAP											0													56.0	57.0	57.0					2																	103040327		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.127G>C	2.37:g.103040327G>C	ENSP00000264260:p.Val43Leu		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.V43L	ENST00000264260.2	37	c.127	CCDS2061.1	2	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701152	0.15172	.	.	ENSG00000115607	ENST00000264260;ENST00000450855	T	0.02579	4.24	5.55	-8.48	0.00935	.	1.041430	0.07552	N	0.915518	T	0.02571	0.0078	M	0.65975	2.015	0.26009	N	0.982012	B	0.09022	0.002	B	0.10450	0.005	T	0.51608	-0.8684	10	0.05351	T	0.99	.	5.9591	0.19289	0.2913:0.0:0.2433:0.4654	.	43	O95256	I18RA_HUMAN	L	43	ENSP00000264260:V43L	ENSP00000264260:V43L	V	+	1	0	IL18RAP	102406759	0.105000	0.21958	0.005000	0.12908	0.128000	0.20619	-1.421000	0.02455	-1.769000	0.01297	-1.151000	0.01829	GTC	IL18RAP	-	NULL	ENSG00000115607		0.388	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	HGNC	protein_coding	OTTHUMT00000253291.2	85	0.00	0	G	NM_003853		103040327	103040327	+1	no_errors	ENST00000264260	ensembl	human	known	69_37n	missense	48	29.41	20	SNP	0.020	C
ITPR2	3709	genome.wustl.edu	37	12	26749818	26749818	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr12:26749818C>T	ENST00000381340.3	-	31	4668	c.4252G>A	c.(4252-4254)Gag>Aag	p.E1418K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1418					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGGCTTACCTCAGGGATGCAG	0.423																																						dbGAP											0													74.0	74.0	74.0					12																	26749818		2006	4174	6180	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4252G>A	12.37:g.26749818C>T	ENSP00000370744:p.Glu1418Lys		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E1418K	ENST00000381340.3	37	c.4252	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.300664	0.95601	.	.	ENSG00000123104	ENST00000381340	D	0.92965	-3.14	4.44	4.44	0.53790	.	0.263848	0.40728	N	0.001023	D	0.95608	0.8572	M	0.82716	2.605	0.80722	D	1	D	0.55605	0.972	P	0.60236	0.871	D	0.95751	0.8792	10	0.52906	T	0.07	.	17.6058	0.88037	0.0:1.0:0.0:0.0	.	1418	Q14571	ITPR2_HUMAN	K	1418	ENSP00000370744:E1418K	ENSP00000370744:E1418K	E	-	1	0	ITPR2	26641085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.596000	0.82721	2.440000	0.82611	0.650000	0.86243	GAG	ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	239	0.00	0	C	NM_002223		26749818	26749818	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	178	23.50	55	SNP	1.000	T
IZUMO2	126123	genome.wustl.edu	37	19	50661562	50661562	+	Silent	SNP	C	C	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr19:50661562C>T	ENST00000293405.3	-	5	459	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	153						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TGGGAGTGATCCTCTGGCAAT	0.507																																						dbGAP											0													129.0	119.0	122.0					19																	50661562		1942	4142	6084	-	-	-	SO:0001819	synonymous_variant	0			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.459G>A	19.37:g.50661562C>T			Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	NULL	p.R153	ENST00000293405.3	37	c.459	CCDS12792.2	19																																																																																			IZUMO2	-	NULL	ENSG00000161652		0.507	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO2	HGNC	protein_coding	OTTHUMT00000157232.1	181	0.00	0	C	NM_152358		50661562	50661562	-1	no_errors	ENST00000293405	ensembl	human	known	69_37n	silent	81	34.68	43	SNP	0.019	T
LRP4	4038	genome.wustl.edu	37	11	46917494	46917495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr11:46917494_46917495insC	ENST00000378623.1	-	10	1365_1366	c.1123_1124insG	c.(1123-1125)gcafs	p.A375fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	375	EGF-like 1; calcium-binding. {ECO:0000255}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACACTGCACTGCCCCCCGCACC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1124dupG	11.37:g.46917500_46917500dupC	ENSP00000367888:p.Ala375fs		B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A375fs	ENST00000378623.1	37	c.1124_1123	CCDS31478.1	11																																																																																			LRP4	-	superfamily_Growth_fac_rcpt,smart_EGF-like	ENSG00000134569		0.629	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	44	0.00	0	-	NM_002334		46917494	46917495	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.850:0.844	C
MAP3K15	389840	genome.wustl.edu	37	X	19478185	19478185	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chrX:19478185C>T	ENST00000338883.4	-	5	805	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R101Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	269							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GAGCTTGATCCGAGCTAGCTC	0.428																																						dbGAP											0													138.0	116.0	123.0					X																	19478185		1568	3582	5150	-	-	-	SO:0001583	missense	0			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.806G>A	X.37:g.19478185C>T	ENSP00000345629:p.Arg269Gln		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R269Q	ENST00000338883.4	37	c.806		X	.	.	.	.	.	.	.	.	.	.	c	25.4	4.633737	0.87660	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.10192	2.9;2.9	5.15	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	M	0.78801	2.425	0.34692	D	0.725849	.	.	.	.	.	.	T	0.21109	-1.0255	8	0.49607	T	0.09	.	9.5295	0.39185	0.1423:0.7813:0.0:0.0764	.	.	.	.	Q	269;101	ENSP00000345629:R269Q;ENSP00000428356:R101Q	ENSP00000345629:R269Q	R	-	2	0	MAP3K15	19388106	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	4.565000	0.60836	0.486000	0.27676	0.519000	0.50382	CGG	MAP3K15	-	NULL	ENSG00000180815		0.428	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		81	0.00	0	C	NM_001001671		19478185	19478185	-1	no_errors	ENST00000338883	ensembl	human	known	69_37n	missense	77	28.44	31	SNP	1.000	T
MICALCL	84953	genome.wustl.edu	37	11	12316344	12316345	+	In_Frame_Ins	INS	-	-	CTC	rs3841216|rs573537447		TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr11:12316344_12316345insCTC	ENST00000256186.2	+	3	1657_1658	c.1366_1367insCTC	c.(1366-1368)gct>gCTCct	p.470_471insP		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.		T -> P (in dbSNP:rs3812754).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCGCCAGGCAGctcctcctcct	0.604																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1408dupCTC	11.37:g.12316351_12316353dupCTC	ENSP00000256186:p.Pro470_Pro470dup		Q7RTP7|Q96JU6	In_Frame_Ins	INS	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.460in_frame_insP	ENST00000256186.2	37	c.1366_1367	CCDS41620.1	11																																																																																			MICALCL	-	NULL	ENSG00000133808		0.604	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	106	0.00	0	-	NM_032867		12316344	12316345	+1	no_errors	ENST00000256186	ensembl	human	known	69_37n	in_frame_ins	75	11.76	10	INS	0.004:0.006	CTC
MORC4	79710	genome.wustl.edu	37	X	106229353	106229353	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chrX:106229353G>T	ENST00000355610.4	-	4	660	c.386C>A	c.(385-387)tCc>tAc	p.S129Y	MORC4_ENST00000255495.7_Missense_Mutation_p.S129Y|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	129						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TAGCCGCATGGAGCCTGACTT	0.463																																						dbGAP											0													178.0	167.0	170.0					X																	106229353		1883	4097	5980	-	-	-	SO:0001583	missense	0			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.386C>A	X.37:g.106229353G>T	ENSP00000347821:p.Ser129Tyr		A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.S129Y	ENST00000355610.4	37	c.386	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508639	0.85282	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	D;D	0.95724	-3.79;-3.79	5.35	5.35	0.76521	ATPase-like, ATP-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95765	0.8622	L	0.28192	0.835	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.96517	0.9383	10	0.87932	D	0	-8.9741	15.875	0.79154	0.0:0.0:1.0:0.0	.	129;129	A1YR23;Q8TE76	.;MORC4_HUMAN	Y	129	ENSP00000347821:S129Y;ENSP00000255495:S129Y	ENSP00000255495:S129Y	S	-	2	0	MORC4	106116009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.435000	0.97529	2.565000	0.86533	0.600000	0.82982	TCC	MORC4	-	superfamily_ATPase-like_ATP-bd	ENSG00000133131		0.463	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	398	0.00	0	G	NM_024657		106229353	106229353	-1	no_errors	ENST00000355610	ensembl	human	known	69_37n	missense	210	32.48	101	SNP	1.000	T
MUC20P1	651714	genome.wustl.edu	37	3	195345533	195345533	+	IGR	SNP	A	A	C			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr3:195345533A>C								APOD (34457 upstream) : RP11-141C7.4 (21327 downstream)																							CTGCGATGACAACGGACGACA	0.577																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															3.37:g.195345533A>C				Silent	SNP	NULL	p.T2		37	c.6		3																																																																																			MUC20	-	NULL	ENSG00000176945	0	0.577					MUC20	HGNC			12	0.00	0	A			195345533	195345533	+1	no_errors	ENST00000381954	ensembl	human	known	69_37n	silent	7	36.36	4	SNP	0.012	C
MUC5B	727897	genome.wustl.edu	37	11	1266662	1266662	+	Missense_Mutation	SNP	C	C	G	rs201156729		TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr11:1266662C>G	ENST00000529681.1	+	31	8610	c.8552C>G	c.(8551-8553)tCg>tGg	p.S2851W	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S2854W	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2851	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCGCACCTCGACCCTGCTG	0.682																																						dbGAP											0													37.0	55.0	49.0					11																	1266662		1849	3929	5778	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8552C>G	11.37:g.1266662C>G	ENSP00000436812:p.Ser2851Trp		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S2854W	ENST00000529681.1	37	c.8561	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	2.300	-0.360308	0.05103	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20738	2.05;2.24	1.81	-0.669	0.11388	.	.	.	.	.	T	0.19366	0.0465	N	0.24115	0.695	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.54401	0.751;0.751	T	0.14699	-1.0463	9	0.87932	D	0	.	4.7719	0.13160	0.0:0.6253:0.0:0.3747	.	3434;2854	A7Y9J9;E9PBJ0	.;.	W	2851;2854;2823;2811	ENSP00000436812:S2851W;ENSP00000415793:S2854W	ENSP00000343037:S2823W	S	+	2	0	MUC5B	1223238	0.016000	0.18221	0.000000	0.03702	0.033000	0.12548	1.145000	0.31577	-0.396000	0.07703	0.430000	0.28490	TCG	MUC5B	-	NULL	ENSG00000117983		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	49	0.00	0	C	XM_001126093		1266662	1266662	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	0.000	G
MYLK	4638	genome.wustl.edu	37	3	123444902	123444902	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr3:123444902G>A	ENST00000475616.1	-	9	1539	c.1540C>T	c.(1540-1542)Ccc>Tcc	p.P514S	MYLK_ENST00000360772.3_Missense_Mutation_p.P514S|MYLK_ENST00000360304.3_Missense_Mutation_p.P514S|MYLK_ENST00000346322.5_Missense_Mutation_p.P445S|MYLK_ENST00000359169.1_Missense_Mutation_p.P514S			Q15746	MYLK_HUMAN	myosin light chain kinase	514	Ig-like C2-type 4.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGAAGGAGGGGGCCACCTCC	0.612																																						dbGAP											0													68.0	51.0	57.0					3																	123444902		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1540C>T	3.37:g.123444902G>A	ENSP00000418335:p.Pro514Ser		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P514S	ENST00000475616.1	37	c.1540	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306107	0.81247	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	4.81	4.81	0.61882	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97188	0.9081	H	0.95816	3.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.988;0.972;0.988;0.982;0.993	D	0.97507	1.0064	9	0.46703	T	0.11	.	16.82	0.85743	0.0:0.0:1.0:0.0	.	514;445;514;445;514	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	S	514;514;514;445;514	ENSP00000354004:P514S;ENSP00000353452:P514S;ENSP00000352088:P514S;ENSP00000320622:P445S;ENSP00000418335:P514S	ENSP00000320622:P445S	P	-	1	0	MYLK	124927592	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.483000	0.73617	2.506000	0.84524	0.655000	0.94253	CCC	MYLK	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000065534		0.612	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	24	0.00	0	G	NM_053025		123444902	123444902	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	missense	6	66.67	12	SNP	1.000	A
NBPF12	149013	genome.wustl.edu	37	1	146395461	146395461	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr1:146395461G>C	ENST00000442909.2	+	5	956	c.120G>C	c.(118-120)gaG>gaC	p.E40D	NBPF12_ENST00000309471.8_5'UTR|NBPF12_ENST00000446760.2_Missense_Mutation_p.E40D			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						ACCTCAAAGAGAGATGTTTTC	0.458																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.120G>C	1.37:g.146395461G>C	ENSP00000391116:p.Glu40Asp		O95877	Missense_Mutation	SNP	pfam_NBPF_dom	p.E40D	ENST00000442909.2	37	c.120		1	.	.	.	.	.	.	.	.	.	.	g	9.491	1.100672	0.20552	.	.	ENSG00000186275	ENST00000446760;ENST00000442909	T;T	0.03689	3.95;3.84	1.44	1.44	0.22558	.	.	.	.	.	T	0.04318	0.0119	M	0.79926	2.475	0.24048	N	0.996054	.	.	.	.	.	.	T	0.27606	-1.0069	7	0.72032	D	0.01	.	6.3707	0.21479	0.0:0.0:1.0:0.0	.	.	.	.	D	40	ENSP00000396525:E40D;ENSP00000391116:E40D	ENSP00000391116:E40D	E	+	3	2	NBPF12	144768687	0.003000	0.15002	0.018000	0.16275	0.005000	0.04900	-0.022000	0.12480	1.111000	0.41721	0.502000	0.49764	GAG	NBPF12	-	NULL	ENSG00000186275		0.458	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	152	0.00	0	G	XM_003119146		146395461	146395461	+1	no_errors	ENST00000446760	ensembl	human	known	69_37n	missense	106	18.46	24	SNP	0.023	C
NUMA1	4926	genome.wustl.edu	37	11	71717272	71717272	+	Missense_Mutation	SNP	G	G	A	rs141331520		TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr11:71717272G>A	ENST00000393695.3	-	22	5832	c.5501C>T	c.(5500-5502)tCg>tTg	p.S1834L	NUMA1_ENST00000351960.6_Missense_Mutation_p.S698L|NUMA1_ENST00000358965.6_Missense_Mutation_p.S1820L	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGTAGAACGATGAGTTGGC	0.552			T	RARA	APL																																	dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													97.0	84.0	88.0					11																	71717272		2200	4293	6493	-	-	-	SO:0001583	missense	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5501C>T	11.37:g.71717272G>A	ENSP00000377298:p.Ser1834Leu			Missense_Mutation	SNP	superfamily_Prefoldin	p.S1834L	ENST00000393695.3	37	c.5501	CCDS31633.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.317408|4.317408	0.81469|0.81469	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T;T	.|0.45276	.|1.93;0.9;2.4	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.000000	.|0.56097	.|D	.|0.000030	T|T	0.52403|0.52403	0.1732|0.1732	N|N	0.24115|0.24115	0.695|0.695	0.47341|0.47341	D|D	0.99939|0.99939	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.996	.|P;D;P;P	.|0.83275	.|0.9;0.996;0.9;0.731	T|T	0.55755|0.55755	-0.8091|-0.8091	5|10	.|0.62326	.|D	.|0.03	.|.	17.6891|17.6891	0.88265|0.88265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1840;1820;1834;698	.|Q4LE64;Q14980-2;Q14980;Q9BTE9	.|.;.;NUMA1_HUMAN;.	C|L	683|698;1820;1834;1383;807	.|ENSP00000260051:S698L;ENSP00000351851:S1820L;ENSP00000377298:S1834L	.|ENSP00000260051:S698L	R|S	-|-	1|2	0|0	NUMA1|NUMA1	71394920|71394920	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.677000|0.677000	0.39632|0.39632	5.519000|5.519000	0.67074|0.67074	2.700000|2.700000	0.92200|0.92200	0.655000|0.655000	0.94253|0.94253	CGT|TCG	NUMA1	-	NULL	ENSG00000137497		0.552	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	32	0.00	0	G			71717272	71717272	-1	no_errors	ENST00000393695	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	1.000	A
OR7G1	125962	genome.wustl.edu	37	19	9225564	9225564	+	Silent	SNP	C	C	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr19:9225564C>T	ENST00000541538.1	-	1	875	c.876G>A	c.(874-876)ctG>ctA	p.L292L	OR7G1_ENST00000293614.1_Silent_p.L292L	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CCTTATTTCTCAGGCTGTAGA	0.418																																						dbGAP											0													119.0	108.0	111.0					19																	9225564		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.876G>A	19.37:g.9225564C>T			Q6IFJ5|Q96RA1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L292	ENST00000541538.1	37	c.876	CCDS32898.2	19																																																																																			OR7G1	-	prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000161807		0.418	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	256	0.00	0	C			9225564	9225564	-1	no_errors	ENST00000293614	ensembl	human	known	69_37n	silent	169	30.45	74	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	73	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	55	32.93	27	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89692780	89692780	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr10:89692780T>A	ENST00000371953.3	+	5	1621	c.264T>A	c.(262-264)taT>taA	p.Y88*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	88	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.Y88fs*3(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)		TTGCACAATATCCTTTTGAAG	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(10)|Unknown(5)|Deletion - In frame(2)	prostate(16)|central_nervous_system(13)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)											108.0	99.0	102.0					10																	89692780		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.264T>A	10.37:g.89692780T>A	ENSP00000361021:p.Tyr88*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_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.Y88*	ENST00000371953.3	37	c.264	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	47	13.564249	0.99750	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.07	2.76	0.32466	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.1498	8.1651	0.31222	0.0:0.255:0.0:0.745	.	.	.	.	X	88	.	.	Y	+	3	2	PTEN	89682760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.471000	0.35365	0.281000	0.22233	0.533000	0.62120	TAT	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	240	0.00	0	T	NM_000314		89692780	89692780	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	nonsense	77	52.76	86	SNP	1.000	A
RAB39A	54734	genome.wustl.edu	37	11	107833060	107833060	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr11:107833060G>A	ENST00000320578.2	+	2	682	c.616G>A	c.(616-618)Gag>Aag	p.E206K		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	206					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										GCATTCTTCTGAGGAAGCAGT	0.398																																						dbGAP											0													50.0	56.0	54.0					11																	107833060		2200	4298	6498	-	-	-	SO:0001583	missense	0			X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.616G>A	11.37:g.107833060G>A	ENSP00000322594:p.Glu206Lys		A8KAA4|Q8N6W2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E206K	ENST00000320578.2	37	c.616	CCDS8338.1	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380594	0.82792	.	.	ENSG00000179331	ENST00000320578	T	0.66638	-0.22	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000013	T	0.58409	0.2120	N	0.19112	0.55	0.51482	D	0.999928	D	0.54397	0.966	P	0.48598	0.583	T	0.52624	-0.8551	10	0.08381	T	0.77	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	206	Q14964	RB39A_HUMAN	K	206	ENSP00000322594:E206K	ENSP00000322594:E206K	E	+	1	0	RAB39	107338270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.837000	0.92110	2.894000	0.99253	0.591000	0.81541	GAG	RAB39A	-	smart_Ran_GTPase	ENSG00000179331		0.398	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB39A	HGNC	protein_coding	OTTHUMT00000389423.1	67	0.00	0	G	NM_017516		107833060	107833060	+1	no_errors	ENST00000320578	ensembl	human	known	69_37n	missense	24	53.85	28	SNP	1.000	A
RLF	6018	genome.wustl.edu	37	1	40701837	40701838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr1:40701837_40701838insA	ENST00000372771.4	+	8	1490_1491	c.1463_1464insA	c.(1462-1467)tcagatfs	p.D489fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	489					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAAGAAGCCTCAGATTCTGATG	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1464dupA	1.37:g.40701838_40701838dupA	ENSP00000361857:p.Asp489fs		Q14CQ1|Q9NU60	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D489fs	ENST00000372771.4	37	c.1463_1464	CCDS448.1	1																																																																																			RLF	-	NULL	ENSG00000117000		0.386	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	106	0.00	0	-	NM_012421		40701837	40701838	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	frame_shift_ins	45	45.78	38	INS	1.000:0.996	A
ZNF683	257101	genome.wustl.edu	37	1	26688342	26688342	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JA-01A-11W-A071-09	TCGA-AO-A0JA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0215d4f1-6697-4e8f-afc4-ff7c6439e56d	55ed9925-691d-43df-8472-2d6a52bc9068	g.chr1:26688342G>T	ENST00000436292.1	-	7	1495	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K	ZNF683_ENST00000374204.1_Missense_Mutation_p.Q439K|ZNF683_ENST00000349618.3_Missense_Mutation_p.Q439K|ZNF683_ENST00000403843.1_Missense_Mutation_p.Q459K			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	459					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGGGCAGCTGGGTGTGCACC	0.612																																						dbGAP											0													63.0	64.0	64.0					1																	26688342		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1375C>A	1.37:g.26688342G>T	ENSP00000388792:p.Gln459Lys		Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q459K	ENST00000436292.1	37	c.1375		1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915310	0.33815	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.08546	3.22;3.22;3.08;3.08	3.71	3.71	0.42584	.	0.184097	0.26635	N	0.023300	T	0.04724	0.0128	N	0.14661	0.345	0.22531	N	0.999017	B;B	0.18310	0.027;0.016	B;B	0.18561	0.022;0.01	T	0.37126	-0.9719	10	0.06494	T	0.89	-6.2296	13.3427	0.60553	0.0:0.0:1.0:0.0	.	439;459	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	K	459;459;439;439	ENSP00000384782:Q459K;ENSP00000388792:Q459K;ENSP00000363320:Q439K;ENSP00000344095:Q439K	ENSP00000344095:Q439K	Q	-	1	0	ZNF683	26560929	1.000000	0.71417	0.512000	0.27736	0.011000	0.07611	4.316000	0.59178	2.071000	0.62044	0.561000	0.74099	CAG	ZNF683	-	NULL	ENSG00000176083		0.612	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	HGNC	protein_coding	OTTHUMT00000009794.2	63	0.00	0	G	NM_173574		26688342	26688342	-1	no_errors	ENST00000403843	ensembl	human	known	69_37n	missense	10	56.52	13	SNP	1.000	T
