#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTGS1	5742	broad.mit.edu	37	9	125145882	125145882	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:125145882T>C	ENST00000362012.2	+	8	862	c.857T>C	c.(856-858)gTg>gCg	p.V286A	PTGS1_ENST00000540753.1_Missense_Mutation_p.V261A|PTGS1_ENST00000373698.5_Missense_Mutation_p.V177A|PTGS1_ENST00000223423.4_Missense_Mutation_p.V286A	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	286					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAGATGGCTGTGGGCCAGGAG	0.617																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(856-858)gTg>gCg		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						80.0	68.0	72.0					9																	125145882		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125145882T>C	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.857T>C	9.37:g.125145882T>C	ENSP00000354612:p.Val286Ala					PTGS1_ENST00000373698.5_Missense_Mutation_p.V177A|PTGS1_ENST00000540753.1_Missense_Mutation_p.V261A|PTGS1_ENST00000223423.4_Missense_Mutation_p.V286A	p.V286A	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			8	862	+			286					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.857T>C	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514825	0.64634	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.31	4.17	0.49024	.	0.227351	0.46758	D	0.000264	T	0.72061	0.3414	M	0.62266	1.93	0.42906	D	0.994249	B;B;B	0.28324	0.023;0.207;0.128	B;P;B	0.48770	0.202;0.589;0.272	T	0.71500	-0.4574	10	0.51188	T	0.08	-19.7193	11.8348	0.52316	0.0:0.0:0.1467:0.8532	.	261;286;286	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	A	261;286;286;177	ENSP00000437709:V261A;ENSP00000354612:V286A;ENSP00000223423:V286A;ENSP00000362802:V177A	ENSP00000223423:V286A	V	+	2	0	PTGS1	124185703	1.000000	0.71417	0.920000	0.36463	0.539000	0.34962	6.306000	0.72810	0.849000	0.35215	-0.375000	0.07067	GTG		0.617	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			21	40	0	0	0	1	0	21	40				
HEATR2	54919	broad.mit.edu	37	7	803452	803452	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr7:803452A>G	ENST00000297440.6	+	8	1644	c.1624A>G	c.(1624-1626)Acg>Gcg	p.T542A	HEATR2_ENST00000313147.5_Missense_Mutation_p.T542A	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	542						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGCACAGGAGACGATGGACTC	0.607																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1624-1626)Acg>Gcg		HEAT repeat containing 2							126.0	106.0	113.0					7																	803452		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:803452A>G	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1624A>G	7.37:g.803452A>G	ENSP00000297440:p.Thr542Ala					HEATR2_ENST00000313147.5_Missense_Mutation_p.T542A	p.T542A	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	8	1644	+		Ovarian(82;0.0112)	542					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1624A>G	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.39|12.39	1.923209|1.923209	0.33908|0.33908	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.64260	.|-0.09;-0.09	5.03|5.03	1.2|1.2	0.21068|0.21068	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.186576	.|0.45361	.|N	.|0.000373	T|T	0.65344|0.65344	0.2682|0.2682	L|L	0.60012|0.60012	1.86|1.86	0.45403|0.45403	D|D	0.998387|0.998387	.|D;D	.|0.63046	.|0.963;0.992	.|P;P	.|0.59487	.|0.621;0.858	T|T	0.59841|0.59841	-0.7378|-0.7378	5|10	.|0.18276	.|T	.|0.48	-27.7328|-27.7328	8.5625|8.5625	0.33520|0.33520	0.7597:0.0:0.2403:0.0|0.7597:0.0:0.2403:0.0	.|.	.|542;288	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	G|A	343|542;542;288	.|ENSP00000297440:T542A;ENSP00000321451:T542A	.|ENSP00000297440:T542A	D|T	+|+	2|1	0|0	HEATR2|HEATR2	769978|769978	1.000000|1.000000	0.71417|0.71417	0.598000|0.598000	0.28837|0.28837	0.015000|0.015000	0.08874|0.08874	2.779000|2.779000	0.47734|0.47734	0.021000|0.021000	0.15133|0.15133	-0.366000|-0.366000	0.07423|0.07423	GAC|ACG		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		33	55	0	0	0	1	0	33	55				
SERPINB2	5055	broad.mit.edu	37	18	61565020	61565020	+	Silent	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr18:61565020A>G	ENST00000299502.4	+	5	557	c.477A>G	c.(475-477)ctA>ctG	p.L159L	SERPINB2_ENST00000457692.1_Silent_p.L159L|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	159					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TAGACTTCCTAGAATGTGCAG	0.338																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(475-477)ctA>ctG		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						60.0	64.0	63.0					18																	61565020		2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61565020A>G	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.477A>G	18.37:g.61565020A>G						SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.L159L	p.L159L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			6	810	+		Esophageal squamous(42;0.131)	159					Q96E96	Silent	SNP	ENST00000299502.4	37	c.477A>G	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	A	7.914	0.737108	0.15574	.	.	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.6	1.65	0.23941	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23547	-1.0185	4	.	.	.	.	4.2545	0.10710	0.4858:0.0:0.3582:0.1561	.	.	.	.	G	36	.	.	R	+	1	2	SERPINB10	59716000	0.000000	0.05858	0.942000	0.38095	0.890000	0.51754	0.298000	0.19120	0.081000	0.16988	0.528000	0.53228	AGA		0.338	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		33	59	0	0	0	1	0	33	59				
FBXO32	114907	broad.mit.edu	37	8	124526522	124526522	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr8:124526522G>C	ENST00000517956.1	-	5	615	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	142					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGTTCTTTTGGGCGATGCCA	0.443																																						ENST00000517956.1																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21						c.(424-426)Caa>Gaa		F-box protein 32							80.0	67.0	71.0					8																	124526522		2203	4300	6503	SO:0001583	missense	114907							g.chr8:124526522G>C	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.424C>G	8.37:g.124526522G>C	ENSP00000428205:p.Gln142Glu					FBXO32_ENST00000443022.2_Intron	p.Q142E	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		5	615	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		142					A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	c.424C>G	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976027	0.92982	.	.	ENSG00000156804	ENST00000517956	T	0.19105	2.17	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.62224	-0.6899	10	0.59425	D	0.04	-5.9057	19.5555	0.95345	0.0:0.0:1.0:0.0	.	142	Q969P5	FBX32_HUMAN	E	142	ENSP00000428205:Q142E	ENSP00000428205:Q142E	Q	-	1	0	FBXO32	124595703	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.619000	0.88677	0.491000	0.48974	CAA		0.443	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			9	20	0	0	0	1	0	9	20				
PRUNE2	158471	broad.mit.edu	37	9	79267432	79267432	+	Missense_Mutation	SNP	C	C	T	rs535266328		TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:79267432C>T	ENST00000376718.3	-	11	8647	c.8524G>A	c.(8524-8526)Gat>Aat	p.D2842N	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Missense_Mutation_p.D2483N|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D106N|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D91N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2842					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCTTCATCGGGGGTATCA	0.393																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7447-7449)Gat>Aat		prune homolog 2 (Drosophila)							255.0	235.0	241.0					9																	79267432		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79267432C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8524G>A	9.37:g.79267432C>T	ENSP00000365908:p.Asp2842Asn					PRUNE2_ENST00000443509.2_Missense_Mutation_p.D91N|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D106N|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2842N	p.D2483N			Q8WUY3	PRUN2_HUMAN			11	8647	-			2842					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7447G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.844204|4.844204	0.91197|0.91197	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.60171|.	0.67;0.6;0.46;0.78;0.21;0.7|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.998;1.0;0.989;1.0|.	D;D;D;P;D|.	0.97110|.	0.993;0.951;0.991;0.882;1.0|.	T|T	0.77574|0.77574	-0.2537|-0.2537	10|5	0.31617|.	T|.	0.26|.	-29.0138|-29.0138	19.9659|19.9659	0.97266|0.97266	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106;106;91;2842;2842|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|.	.;.;.;.;PRUN2_HUMAN|.	N|Q	106;2842;2483;60;91;12;106;2841|2163	ENSP00000365907:D106N;ENSP00000365908:D2842N;ENSP00000397425:D2483N;ENSP00000393843:D91N;ENSP00000393657:D12N;ENSP00000223609:D106N|.	ENSP00000223609:D106N|.	D|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78457252|78457252	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.627000|0.627000	0.37826|0.37826	5.656000|5.656000	0.67988|0.67988	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.393	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		8	173	0	0	0	1	0	8	173				
SLC17A1	6568	broad.mit.edu	37	6	25799051	25799051	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:25799051G>T	ENST00000244527.4	-	12	1481	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	SLC17A1_ENST00000468082.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000427328.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000476801.1_Missense_Mutation_p.Q456K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	456					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCAGTCCTGAATTTCTGCT	0.428																																						ENST00000244527.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1366-1368)Cag>Aag		solute carrier family 17 (organic anion transporter), member 1							116.0	110.0	112.0					6																	25799051		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25799051G>T		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1366C>A	6.37:g.25799051G>T	ENSP00000244527:p.Gln456Lys					SLC17A1_ENST00000427328.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000468082.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000476801.1_Missense_Mutation_p.Q456K	p.Q456K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN			12	1481	-			456					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.1366C>A	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500154	0.64298	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	3.97	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.35585	N	0.003108	T	0.72104	0.3419	M	0.93016	3.37	0.37866	D	0.929891	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79262	-0.1876	10	0.87932	D	0	.	11.7678	0.51941	0.0:0.0:1.0:0.0	.	402;456	Q14916-2;Q14916	.;NPT1_HUMAN	K	456;402;456;402	ENSP00000244527:Q456K;ENSP00000410549:Q402K;ENSP00000420614:Q456K;ENSP00000420546:Q402K	ENSP00000244527:Q456K	Q	-	1	0	SLC17A1	25907030	0.995000	0.38212	0.994000	0.49952	0.792000	0.44763	3.863000	0.56016	2.216000	0.71823	0.655000	0.94253	CAG		0.428	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			4	83	1	0	0.014758	1	0.014758	4	83				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	16	0	0	0	1	0	3	16				
ZEB1	6935	broad.mit.edu	37	10	31812941	31812941	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr10:31812941G>T	ENST00000320985.10	+	8	2792	c.2682G>T	c.(2680-2682)aaG>aaT	p.K894N	ZEB1_ENST00000361642.5_Missense_Mutation_p.K895N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K874N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K827N|ZEB1_ENST00000446923.2_Missense_Mutation_p.K878N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	894					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CGCCCAAAAAGAAAATGCGGA	0.378																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2632-2634)aaG>aaT		zinc finger E-box binding homeobox 1							102.0	102.0	102.0					10																	31812941		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31812941G>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2682G>T	10.37:g.31812941G>T	ENSP00000319248:p.Lys894Asn					ZEB1_ENST00000361642.5_Missense_Mutation_p.K895N|ZEB1_ENST00000320985.10_Missense_Mutation_p.K894N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K827N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K874N	p.K878N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			8	3025	+		Prostate(175;0.0156)	894					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2634G>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411449	0.83340	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58	5.72	4.82	0.62117	.	0.206483	0.34025	N	0.004340	T	0.17280	0.0415	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.972;0.999;0.999	D;D;P;D;D	0.97110	1.0;0.991;0.76;0.991;0.991	T	0.00230	-1.1897	10	0.62326	D	0.03	-21.4158	11.3922	0.49822	0.1558:0.0:0.8442:0.0	.	827;878;874;895;894	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	N	676;894;895;889;827;894;874;785;878	ENSP00000444282:K676N;ENSP00000354487:K895N;ENSP00000444891:K827N;ENSP00000319248:K894N;ENSP00000391612:K878N	ENSP00000319248:K894N	K	+	3	2	ZEB1	31852947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.976000	0.88070	1.441000	0.47550	0.585000	0.79938	AAG		0.378	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	108	1	0	1.08611e-07	1	1.22187e-07	12	108				
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282.0	295.0	291.0					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	329	0	0	0	1	0	5	329				
KAL1	3730	broad.mit.edu	37	X	8536370	8536370	+	Silent	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chrX:8536370A>G	ENST00000262648.3	-	8	1259	c.1110T>C	c.(1108-1110)taT>taC	p.Y370Y		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	370	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ATTCCACAACATAGTCACAGT	0.443																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1108-1110)taT>taC		Kallmann syndrome 1 sequence							162.0	103.0	123.0					X																	8536370		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8536370A>G		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1110T>C	X.37:g.8536370A>G							p.Y370Y	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			8	1259	-			370			Fibronectin type-III 2.		B2RPF8	Silent	SNP	ENST00000262648.3	37	c.1110T>C	CCDS14130.1																																																																																				0.443	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		4	48	0	0	0	1	0	4	48				
TOR1A	1861	broad.mit.edu	37	9	132576411	132576411	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:132576411C>A	ENST00000351698.4	-	5	887	c.839G>T	c.(838-840)tGt>tTt	p.C280F		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	280	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CACTCGGATACACATTTTTAG	0.453																																						ENST00000351698.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(838-840)tGt>tTt		torsin family 1, member A (torsin A)							179.0	171.0	174.0					9																	132576411		2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132576411C>A	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.839G>T	9.37:g.132576411C>A	ENSP00000345719:p.Cys280Phe						p.C280F	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			5	887	-		Ovarian(14;0.00556)	280					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.839G>T	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090895	0.76756	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.39056	1.1	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83054	-0.0151	10	0.87932	D	0	-10.6772	17.8532	0.88754	0.0:1.0:0.0:0.0	.	280	O14656	TOR1A_HUMAN	F	249;280	ENSP00000345719:C280F	ENSP00000345719:C280F	C	-	2	0	TOR1A	131616232	1.000000	0.71417	0.994000	0.49952	0.604000	0.37047	7.487000	0.81328	2.439000	0.82584	0.561000	0.74099	TGT		0.453	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		4	173	1	0	3.59834e-05	1	3.73673e-05	4	173				
ABCC10	89845	broad.mit.edu	37	6	43415432	43415432	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:43415432G>A	ENST00000372530.4	+	18	3931	c.3716G>A	c.(3715-3717)gGc>gAc	p.G1239D	ABCC10_ENST00000244533.3_Missense_Mutation_p.G1211D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1239					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CTGGGCACCGGCTGGCTGACC	0.632																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3631-3633)gGc>gAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							145.0	172.0	163.0					6																	43415432		2203	4298	6501	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415432G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3716G>A	6.37:g.43415432G>A	ENSP00000361608:p.Gly1239Asp					ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D	p.G1211D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	3991	+	all_lung(25;0.00536)		1239					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3632G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991602	0.18966	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90900	-2.74;-2.75	5.61	4.74	0.60224	.	0.479972	0.23496	N	0.047559	T	0.60327	0.2260	N	0.12746	0.255	0.34207	D	0.673873	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.004	T	0.51458	-0.8703	10	0.02654	T	1	-22.9541	5.3476	0.16018	0.2734:0.0:0.7266:0.0	.	1211;1239	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	1239;1211	ENSP00000361608:G1239D;ENSP00000244533:G1211D	ENSP00000244533:G1211D	G	+	2	0	ABCC10	43523410	0.921000	0.31238	0.967000	0.41034	0.517000	0.34286	1.539000	0.36104	2.641000	0.89580	0.591000	0.81541	GGC		0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		6	308	0	0	0	1	0	6	308				
KIAA0141	9812	broad.mit.edu	37	5	141309157	141309157	+	Silent	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr5:141309157A>G	ENST00000432126.2	+	5	557	c.423A>G	c.(421-423)caA>caG	p.Q141Q	KIAA0141_ENST00000194118.4_Silent_p.Q141Q	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	141					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCGACAACACATCCTCC	0.632																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(421-423)caA>caG		KIAA0141							69.0	72.0	71.0					5																	141309157		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141309157A>G	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.423A>G	5.37:g.141309157A>G						KIAA0141_ENST00000194118.4_Silent_p.Q141Q	p.Q141Q	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	557	+		all_hematologic(541;0.118)	141					Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.423A>G	CCDS4268.1																																																																																				0.632	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		4	60	0	0	0	1	0	4	60				
APEH	327	broad.mit.edu	37	3	49717042	49717042	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr3:49717042A>G	ENST00000296456.5	+	13	1575	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	APEH_ENST00000438011.1_Missense_Mutation_p.D392G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	392					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTGCTGTGGACACCCAAGTG	0.612																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(1174-1176)gAc>gGc		acylaminoacyl-peptide hydrolase							270.0	214.0	233.0					3																	49717042		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49717042A>G	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1175A>G	3.37:g.49717042A>G	ENSP00000296456:p.Asp392Gly					APEH_ENST00000438011.1_Missense_Mutation_p.D392G	p.D392G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	13	1575	+			392					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1175A>G	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894130	0.72639	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.56611	0.45;0.45	4.59	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.092377	0.64402	D	0.000001	T	0.55162	0.1903	M	0.73598	2.24	0.54753	D	0.999986	B;B	0.31009	0.303;0.303	B;B	0.35899	0.213;0.213	T	0.59606	-0.7423	10	0.52906	T	0.07	-42.2769	11.4431	0.50109	1.0:0.0:0.0:0.0	.	392;392	C9JIF9;P13798	.;ACPH_HUMAN	G	392	ENSP00000296456:D392G;ENSP00000415862:D392G	ENSP00000296456:D392G	D	+	2	0	APEH	49692046	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.777000	0.62361	1.919000	0.55581	0.379000	0.24179	GAC		0.612	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	59	0	0	0	1	0	3	59				
PLCL1	5334	broad.mit.edu	37	2	198948751	198948751	+	Silent	SNP	A	A	G			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr2:198948751A>G	ENST00000428675.1	+	2	908	c.510A>G	c.(508-510)aaA>aaG	p.K170K	PLCL1_ENST00000437704.2_Silent_p.K72K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	170	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACTGGGGAAAAACACGGAAA	0.463																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(508-510)aaA>aaG		phospholipase C-like 1	Quinacrine(DB01103)						109.0	116.0	114.0					2																	198948751		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948751A>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.510A>G	2.37:g.198948751A>G						PLCL1_ENST00000437704.2_Silent_p.K72K	p.K170K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	908	+			170			Interaction with PPP1C.|PH.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.510A>G	CCDS2326.2																																																																																				0.463	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		5	65	0	0	0	1	0	5	65				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	42	0	0	0	1	0	3	42				
RGS12	6002	broad.mit.edu	37	4	3441319	3441319	+	Frame_Shift_Del	DEL	G	G	-	rs202034488		TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr4:3441319delG	ENST00000344733.5	+	18	5156	c.4252delG	c.(4252-4254)gggfs	p.G1418fs	HGFAC_ENST00000511533.1_5'Flank|RGS12_ENST00000338806.4_Frame_Shift_Del_p.G770fs|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1418					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCCAGTGGTGGGCCTCCTAC	0.667																																						ENST00000344733.5																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4252-4254)ggfs		regulator of G-protein signaling 12							30.0	29.0	29.0					4																	3441319		2201	4295	6496	SO:0001589	frameshift_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441319delG	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4252delG	4.37:g.3441319delG	ENSP00000339381:p.Gly1418fs					RGS12_ENST00000338806.4_Frame_Shift_Del_p.G770fs	p.G1418fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5156	+			1418					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	ENST00000344733.5	37	c.4252delG	CCDS3366.1																																																																																				0.667	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		7	20						7	20	---	---	---	---
MBLAC2	153364	broad.mit.edu	37	5	89770075	89770076	+	Frame_Shift_Del	DEL	AG	AG	-	rs373346589		TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr5:89770075_89770076delAG	ENST00000316610.6	-	1	509_510	c.34_35delCT	c.(34-36)ctafs	p.L12fs	MBLAC2_ENST00000514906.1_Frame_Shift_Del_p.L12fs|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank|POLR3G_ENST00000514483.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	12						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						ACCATCGCCTAGAGACTTGTGG	0.619																																						ENST00000316610.6																			0				kidney(1)|liver(1)|lung(3)	5						c.(34-36)afs		metallo-beta-lactamase domain containing 2																																				SO:0001589	frameshift_variant	153364						hydrolase activity|metal ion binding	g.chr5:89770075_89770076delAG	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.34_35delCT	5.37:g.89770077_89770078delAG	ENSP00000314776:p.Leu12fs					MBLAC2_ENST00000514906.1_Frame_Shift_Del_p.L12fs	p.L12fs	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN			1	509_510	-			12					D6RJI1|Q8IY16|Q8N8D8	Frame_Shift_Del	DEL	ENST00000316610.6	37	c.34_35delCT	CCDS4067.1																																																																																				0.619	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		9	23						9	23	---	---	---	---
