#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
CYP4X1	260293	broad.mit.edu	37	1	47501571	47501571	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:47501571G>A	ENST00000371901.3	+	5	836	c.586G>A	c.(586-588)Gct>Act	p.A196T	CYP4X1_ENST00000538609.1_Missense_Mutation_p.A195T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	196						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATGAAATGCGCTTTCAGCAA	0.428																																						uc001cqt.2																			0				ovary(1)|skin(1)	2						c.(586-588)GCT>ACT		cytochrome P450, family 4, subfamily X,							109.0	98.0	102.0					1																	47501571		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47501571G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.586G>A	1.37:g.47501571G>A	ENSP00000360968:p.Ala196Thr					CYP4X1_uc001cqr.2_Missense_Mutation_p.A195T|CYP4X1_uc001cqs.2_Missense_Mutation_p.A131T	p.A196T	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			5	836	+			196					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.586G>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069891	0.76301	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.69561	-0.41;-0.41	5.91	1.58	0.23477	.	0.307029	0.34386	N	0.004012	T	0.74566	0.3733	M	0.65677	2.01	0.40746	D	0.98287	D;D	0.76494	0.964;0.999	P;P	0.62813	0.668;0.907	T	0.72861	-0.4164	10	0.40728	T	0.16	.	11.022	0.47724	0.2509:0.0:0.7491:0.0	.	196;195	Q8N118;G3V1U1	CP4X1_HUMAN;.	T	195;196	ENSP00000445965:A195T;ENSP00000360968:A196T	ENSP00000360968:A196T	A	+	1	0	CYP4X1	47274158	1.000000	0.71417	0.609000	0.28983	0.912000	0.54170	2.297000	0.43593	0.280000	0.22209	-0.216000	0.12614	GCT		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033	
SETDB1	9869	broad.mit.edu	37	1	150936730	150936730	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:150936730C>T	ENST00000271640.5	+	22	3956	c.3766C>T	c.(3766-3768)Cgg>Tgg	p.R1256W	SETDB1_ENST00000368969.4_Missense_Mutation_p.R1255W|CERS2_ENST00000561294.1_3'UTR|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'Flank	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1256	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAAGAATCCGGGCTGGGAC	0.507																																						uc001evu.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3766-3768)CGG>TGG		SET domain, bifurcated 1 isoform 1							107.0	88.0	95.0					1																	150936730		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936730C>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3766C>T	1.37:g.150936730C>T	ENSP00000271640:p.Arg1256Trp					SETDB1_uc001evv.2_Missense_Mutation_p.R1255W	p.R1256W	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	3956	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1256			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3766C>T	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794301	0.90453	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.82711	-1.64;-1.64	4.93	4.93	0.64822	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.88209	0.2889	10	0.87932	D	0	.	17.9225	0.88972	0.0:1.0:0.0:0.0	.	1255;1256	Q15047-3;Q15047	.;SETB1_HUMAN	W	1256;1255	ENSP00000271640:R1256W;ENSP00000357965:R1255W	ENSP00000271640:R1256W	R	+	1	2	SETDB1	149203354	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.502000	0.81614	2.565000	0.86533	0.462000	0.41574	CGG		0.507	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		
FDPS	2224	broad.mit.edu	37	1	155288033	155288033	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:155288033A>G	ENST00000356657.6	+	6	797	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	FDPS_ENST00000368356.4_Missense_Mutation_p.Y212C|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.Y146C|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368352.5_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	212					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGAAGCTCTATTGCCGGGAG	0.552																																						uc001fkc.2																			0					0						c.(634-636)TAT>TGT		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						76.0	73.0	74.0					1																	155288033		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155288033A>G	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.635A>G	1.37:g.155288033A>G	ENSP00000349078:p.Tyr212Cys					RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y146C|FDPS_uc001fke.2_Missense_Mutation_p.Y212C|FDPS_uc001fkf.2_Missense_Mutation_p.Y146C|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	p.Y212C	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	854	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		212					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.635A>G	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108229	0.56291	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.63580	-0.05;-0.05;-0.05	3.75	3.75	0.43078	Terpenoid synthase (2);	0.000000	0.35291	N	0.003320	T	0.46444	0.1393	M	0.62209	1.925	0.46241	D	0.998945	B	0.26081	0.141	B	0.28991	0.097	T	0.59198	-0.7499	10	0.87932	D	0	-2.2949	10.8145	0.46567	1.0:0.0:0.0:0.0	.	212	P14324	FPPS_HUMAN	C	146;212;212	ENSP00000391755:Y146C;ENSP00000357340:Y212C;ENSP00000349078:Y212C	ENSP00000349078:Y212C	Y	+	2	0	FDPS	153554657	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.817000	0.62650	1.932000	0.55993	0.383000	0.25322	TAT		0.552	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004	
TPR	7175	broad.mit.edu	37	1	186310460	186310460	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:186310460A>G	ENST00000367478.4	-	28	4108	c.3812T>C	c.(3811-3813)gTa>gCa	p.V1271A		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1271	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCCATAACTACATTCATTGT	0.343			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(3811-3813)GTA>GCA		nuclear pore complex-associated protein TPR							180.0	155.0	162.0					1																	186310460		1858	4109	5967	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186310460A>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3812T>C	1.37:g.186310460A>G	ENSP00000356448:p.Val1271Ala						p.V1271A	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	28	4109	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1271			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.3812T>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477761	0.44044	.	.	ENSG00000047410	ENST00000367478	T	0.21191	2.02	4.94	4.94	0.65067	.	0.128764	0.53938	D	0.000058	T	0.08582	0.0213	N	0.01242	-0.935	0.43719	D	0.996197	B	0.26483	0.15	B	0.24848	0.056	T	0.28650	-1.0037	10	0.31617	T	0.26	.	14.6143	0.68537	1.0:0.0:0.0:0.0	.	1271	P12270	TPR_HUMAN	A	1271	ENSP00000356448:V1271A	ENSP00000356448:V1271A	V	-	2	0	TPR	184577083	1.000000	0.71417	0.917000	0.36280	0.993000	0.82548	6.785000	0.75089	1.852000	0.53769	0.482000	0.46254	GTA		0.343	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
MYO3A	53904	broad.mit.edu	37	10	26482157	26482157	+	Missense_Mutation	SNP	A	A	G	rs34204285	byFrequency	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr10:26482157A>G	ENST00000265944.5	+	32	4628	c.4462A>G	c.(4462-4464)Aaa>Gaa	p.K1488E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1488			K -> E (in dbSNP:rs34204285). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAGGAGCCAAAAATATTGAG	0.358													A|||	46	0.0091853	0.0	0.0	5008	,	,		18772	0.0437		0.0	False		,,,				2504	0.002					uc001isn.2																			0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(4462-4464)AAA>GAA		myosin IIIA		A	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	69.0	67.0	68.0		4462	5.7	1.0	10	dbSNP_126	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYO3A	NM_017433.4	56	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	benign	1488/1617	26482157	2,13004	2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26482157A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4462A>G	10.37:g.26482157A>G	ENSP00000265944:p.Lys1488Glu					MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.K1488E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			32	4822	+			1488					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4462A>G	CCDS7148.1	22	0.010073260073260074	0	0.0	0	0.0	21	0.03671328671328671	1	0.0013192612137203166	A	14.97	2.694588	0.48202	2.27E-4	1.16E-4	ENSG00000095777	ENST00000265944	T	0.79141	-1.24	5.7	5.7	0.88788	.	0.205205	0.38381	N	0.001712	T	0.40645	0.1125	L	0.49126	1.545	0.80722	D	1	B	0.27229	0.172	B	0.22386	0.039	T	0.61987	-0.6949	10	0.62326	D	0.03	.	11.1302	0.48343	0.8461:0.1539:0.0:0.0	rs34204285	1488	Q8NEV4	MYO3A_HUMAN	E	1488	ENSP00000265944:K1488E	ENSP00000265944:K1488E	K	+	1	0	MYO3A	26522163	0.994000	0.37717	0.996000	0.52242	0.945000	0.59286	3.546000	0.53656	2.175000	0.68902	0.528000	0.53228	AAA		0.358	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
PTEN	5728	broad.mit.edu	37	10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T	rs398123329		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr10:89720679C>T	ENST00000371953.3	+	8	2187	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	277	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.T277I(1)|p.W274_F341del(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)		TGGGTAAATACATTCTTCATA	0.284		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)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)|Substitution - Missense(1)	p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277I(1)|p.W274_F341del(1)|p.T277fs*13(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(829-831)ACA>ATA		phosphatase and tensin homolog							31.0	32.0	32.0					10																	89720679		2196	4284	6480	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720679C>T	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.830C>T	10.37:g.89720679C>T	ENSP00000361021:p.Thr277Ile	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.T277I	NM_000314	NP_000305	P60484	PTEN_HUMAN	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)	9	1861	+		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)	277			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.830C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666335	0.88251	.	.	ENSG00000171862	ENST00000371953	D	0.98419	-4.92	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	M	0.86953	2.85	0.80722	D	1	P	0.43788	0.817	B	0.40534	0.332	D	0.98816	1.0745	9	.	.	.	-0.9023	18.5632	0.91108	0.0:1.0:0.0:0.0	.	277	P60484	PTEN_HUMAN	I	277	ENSP00000361021:T277I	.	T	+	2	0	PTEN	89710659	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.399000	0.81585	0.591000	0.81541	ACA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MUC5AC	4586	broad.mit.edu	37	11	1155150	1155150	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:1155150C>T	ENST00000356191.2	+	3	158	c.158C>T	c.(157-159)cCg>cTg	p.P53L				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	53					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCAGGGGTCCCGCTCCGTGGG	0.667																																						uc009ycr.1																			0					0						c.(157-159)CCG>CTG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							24.0	26.0	25.0					11																	1155150		875	1990	2865	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1155150C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.158C>T	11.37:g.1155150C>T	ENSP00000348519:p.Pro53Leu						p.P53L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	4	284	+		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)	58					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.158C>T		.	.	.	.	.	.	.	.	.	.	C	11.25	1.581900	0.28180	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.19532	2.2;2.14	3.56	0.497	0.16902	.	.	.	.	.	T	0.14830	0.0358	L	0.56769	1.78	.	.	.	P	0.35011	0.48	B	0.18561	0.022	T	0.16217	-1.0410	8	0.62326	D	0.03	.	3.7099	0.08416	0.0:0.5502:0.207:0.2427	.	53	A7Y9J9	.	L	53	ENSP00000435591:P53L;ENSP00000348519:P53L	ENSP00000348519:P53L	P	+	2	0	MUC5AC	1145150	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.210000	0.09345	0.009000	0.14813	0.282000	0.19409	CCG		0.667	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382	
OR4D5	219875	broad.mit.edu	37	11	123811011	123811011	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:123811011C>T	ENST00000307033.2	+	1	762	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGCCACTCACGGGAGGGCCG	0.522																																						uc001pzk.1																			0				ovary(1)	1						c.(688-690)CGG>TGG		olfactory receptor, family 4, subfamily D,							217.0	193.0	201.0					11																	123811011		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811011C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.688C>T	11.37:g.123811011C>T	ENSP00000305970:p.Arg230Trp						p.R230W	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	688	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	230			Cytoplasmic (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.688C>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170606	0.38315	.	.	ENSG00000171014	ENST00000307033	T	0.00137	8.68	5.49	-3.92	0.04155	GPCR, rhodopsin-like superfamily (1);	1.210450	0.06263	N	0.694236	T	0.00178	0.0005	L	0.28400	0.85	0.09310	N	1	D	0.56968	0.978	P	0.55303	0.773	T	0.37079	-0.9721	10	0.66056	D	0.02	-0.1578	0.9445	0.01362	0.2766:0.4006:0.156:0.1668	.	230	Q8NGN0	OR4D5_HUMAN	W	230	ENSP00000305970:R230W	ENSP00000305970:R230W	R	+	1	2	OR4D5	123316221	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-2.859000	0.00727	-0.731000	0.04862	0.650000	0.86243	CGG		0.522	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
ADAMTS15	170689	broad.mit.edu	37	11	130343595	130343595	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:130343595G>A	ENST00000299164.2	+	8	2732	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	911	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCTGCGGCCGGGGATTTCAG	0.682																																						uc010scd.1																			0				large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2731-2733)CGG>CAG		a disintegrin-like and metalloprotease							22.0	28.0	26.0					11																	130343595		2198	4292	6490	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343595G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2732G>A	11.37:g.130343595G>A	ENSP00000299164:p.Arg911Gln						p.R911Q	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2732	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	911			TSP type-1 3.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2732G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348877	0.61183	.	.	ENSG00000166106	ENST00000299164	T	0.52526	0.66	5.43	4.51	0.55191	.	.	.	.	.	T	0.41696	0.1170	L	0.48642	1.525	0.52099	D	0.999947	B	0.17852	0.024	B	0.20184	0.028	T	0.21552	-1.0242	9	0.22706	T	0.39	.	14.401	0.67047	0.0719:0.0:0.9281:0.0	.	911	Q8TE58	ATS15_HUMAN	Q	911	ENSP00000299164:R911Q	ENSP00000299164:R911Q	R	+	2	0	ADAMTS15	129848805	0.003000	0.15002	0.935000	0.37517	0.934000	0.57294	1.317000	0.33631	1.288000	0.44600	0.557000	0.71058	CGG		0.682	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055	
CLSTN3	9746	broad.mit.edu	37	12	7302219	7302219	+	Silent	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:7302219C>T	ENST00000266546.6	+	14	2625	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	CLSTN3_ENST00000537408.1_Silent_p.L737L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	725					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AAAGCCTGCTCCTGGACACAA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					uc001qsr.2																			0				large_intestine(1)	1						c.(2173-2175)CTC>CTT		calsyntenin 3 precursor							77.0	70.0	72.0					12																	7302219		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7302219C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2175C>T	12.37:g.7302219C>T						CLSTN3_uc001qss.2_Silent_p.L737L	p.L725L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			14	2453	+			725			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.2175C>T	CCDS8575.1																																																																																				0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
ACSM4	341392	broad.mit.edu	37	12	7477186	7477186	+	Missense_Mutation	SNP	C	C	T	rs199564292		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:7477186C>T	ENST00000399422.4	+	11	1576	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	510					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						AGATCAAATCCGCGGAGAGGT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					uc001qsx.1																			0					0						c.(1528-1530)CGC>TGC		acyl-CoA synthetase medium-chain family member 4		C	CYS/ARG	1,3851		0,1,1925	99.0	92.0	94.0		1528	1.6	1.0	12		94	1,8243		0,1,4121	yes	missense	ACSM4	NM_001080454.1	180	0,2,6046	TT,TC,CC		0.0121,0.026,0.0165	probably-damaging	510/581	7477186	2,12094	1926	4122	6048	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7477186C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1528C>T	12.37:g.7477186C>T	ENSP00000382349:p.Arg510Cys						p.R510C	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			11	1528	+			510					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1528C>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004867	0.35415	2.6E-4	1.21E-4	ENSG00000215009	ENST00000399422	T	0.59772	0.24	2.58	1.59	0.23543	.	0.000000	0.33309	U	0.005056	T	0.76126	0.3944	M	0.91354	3.2	0.48341	D	0.999634	D	0.89917	1.0	D	0.87578	0.998	T	0.75642	-0.3247	10	0.87932	D	0	-17.6681	6.9255	0.24412	0.5741:0.4259:0.0:0.0	.	510	P0C7M7	ACSM4_HUMAN	C	510	ENSP00000382349:R510C	ENSP00000382349:R510C	R	+	1	0	ACSM4	7368453	0.025000	0.19082	0.995000	0.50966	0.540000	0.34992	0.194000	0.17135	0.553000	0.29044	0.557000	0.71058	CGC		0.438	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						uc010shk.1																			0					0						c.(688-693)AACAAG>AAG		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del						p.N230del	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
TUBA1A	7846	broad.mit.edu	37	12	49578914	49578914	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:49578914C>T	ENST00000295766.5	-	4	1714	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	TUBA1A_ENST00000550767.1_Missense_Mutation_p.G377E|TUBA1A_ENST00000301071.7_Missense_Mutation_p.G412E	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	412					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TTCCTCCATCCCCTCCCCAAC	0.547																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	uc009zlf.2																			0					0						c.(1234-1236)GGG>GAG		tubulin, alpha 1a							165.0	153.0	157.0					12																	49578914		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49578914C>T	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1235G>A	12.37:g.49578914C>T	ENSP00000439020:p.Gly412Glu					TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.G412E|TUBA1A_uc001rtq.2_Missense_Mutation_p.G259E|TUBA1A_uc001rtr.2_Missense_Mutation_p.G259E|TUBA1A_uc009zlg.2_Missense_Mutation_p.G259E	p.G412E	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN			4	1507	-			412					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.1235G>A	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.994150	0.54041	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.87179	-2.22;-2.22;-2.22	5.51	5.51	0.81932	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95931	0.8675	H	0.97732	4.065	0.80722	D	1	D	0.63880	0.993	D	0.66084	0.941	D	0.97332	0.9951	10	0.87932	D	0	.	18.2109	0.89869	0.0:1.0:0.0:0.0	.	412	Q71U36	TBA1A_HUMAN	E	412;143;259;412;377	ENSP00000301071:G412E;ENSP00000439020:G412E;ENSP00000446637:G377E	ENSP00000439020:G412E	G	-	2	0	TUBA1A	47865181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.406000	0.80017	2.581000	0.87130	0.655000	0.94253	GGG		0.547	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009	
GLTP	51228	broad.mit.edu	37	12	110290512	110290512	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:110290512C>T	ENST00000318348.4	-	5	591	c.478G>A	c.(478-480)Gac>Aac	p.D160N	GLTP_ENST00000544393.1_Missense_Mutation_p.D141N	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	160					glycolipid transport (GO:0046836)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|lipid binding (GO:0008289)			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TTCAGGAAGTCAGACTTATAG	0.587											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tpm.2																			0					0						c.(478-480)GAC>AAC		glycolipid transfer protein							224.0	219.0	221.0					12																	110290512		2203	4300	6503	SO:0001583	missense	51228					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr12:110290512C>T	AF209704, AY372530	CCDS9136.1	12q24.11	2008-08-08			ENSG00000139433	ENSG00000139433			24867	protein-coding gene	gene with protein product		608949				15287756, 15901739	Standard	NM_016433		Approved		uc001tpm.3	Q9NZD2	OTTHUMG00000169278	ENST00000318348.4:c.478G>A	12.37:g.110290512C>T	ENSP00000315263:p.Asp160Asn		OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1426	GLTP_uc010sxt.1_RNA	p.D160N	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0025)	5	592	-		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)	160					Q53Z13|Q96J68	Missense_Mutation	SNP	ENST00000318348.4	37	c.478G>A	CCDS9136.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008266	0.75046	.	.	ENSG00000139433	ENST00000318348;ENST00000544393	.	.	.	5.11	5.11	0.69529	Glycolipid transfer protein domain (3);	0.093378	0.64402	D	0.000001	T	0.59932	0.2230	L	0.50847	1.595	0.80722	D	1	B	0.24317	0.101	B	0.30179	0.112	T	0.55522	-0.8128	9	0.27785	T	0.31	.	17.5688	0.87928	0.0:1.0:0.0:0.0	.	160	Q9NZD2	GLTP_HUMAN	N	160;141	.	ENSP00000315263:D160N	D	-	1	0	GLTP	108774895	0.999000	0.42202	0.978000	0.43139	0.974000	0.67602	4.337000	0.59310	2.546000	0.85860	0.650000	0.86243	GAC		0.587	GLTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403278.2	NM_016433	
IQCH	64799	broad.mit.edu	37	15	67664811	67664811	+	Silent	SNP	C	C	T	rs111681102	byFrequency	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr15:67664811C>T	ENST00000335894.4	+	9	1182	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	IQCH_ENST00000360277.4_Silent_p.A124A|IQCH_ENST00000546225.1_Silent_p.A120A|IQCH_ENST00000358767.3_Silent_p.A199A	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	372	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATTCGGAGGCCGCCATGAAGA	0.468													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18530	0.0		0.0	False		,,,				2504	0.0					uc002aqo.1																			0				skin(3)|ovary(1)	4						c.(1114-1116)GCC>GCT		IQ motif containing H isoform 1		C		14,4388	21.2+/-45.6	0,14,2187	70.0	71.0	71.0		1116	-8.0	0.0	15	dbSNP_132	71	0,8598		0,0,4299	no	coding-synonymous	IQCH	NM_001031715.2		0,14,6486	TT,TC,CC		0.0,0.318,0.1077		372/1028	67664811	14,12986	2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67664811C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1116C>T	15.37:g.67664811C>T						IQCH_uc010ujv.1_Silent_p.A191A|IQCH_uc002aqn.1_Silent_p.A199A|IQCH_uc002aqq.1_Silent_p.A120A|IQCH_uc002aqp.1_Silent_p.A124A	p.A372A	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	9	1163	+			372			IQ.		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.1116C>T	CCDS32273.1																																																																																				0.468	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
ZKSCAN2	342357	broad.mit.edu	37	16	25251329	25251329	+	Silent	SNP	T	T	C			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr16:25251329T>C	ENST00000328086.7	-	7	3515	c.2712A>G	c.(2710-2712)gaA>gaG	p.E904E	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	904					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCTCCGATGTTCTCGAAATC	0.458																																						uc002dod.3																			0				ovary(3)|breast(1)	4						c.(2710-2712)GAA>GAG		zinc finger with KRAB and SCAN domains 2							99.0	86.0	91.0					16																	25251329		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251329T>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2712A>G	16.37:g.25251329T>C						ZKSCAN2_uc010vcl.1_Silent_p.E700E	p.E904E	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3119	-			904			C2H2-type 5.		A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.2712A>G	CCDS32410.1																																																																																				0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
ZNF48	197407	broad.mit.edu	37	16	30409511	30409511	+	Missense_Mutation	SNP	C	C	T	rs141362652		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr16:30409511C>T	ENST00000320159.2	+	2	1316	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGAGTTTGCCCGGGGATCCGA	0.622																																						uc002dya.1																			0					0						c.(940-942)CGG>TGG		zinc finger protein 48		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	89.0	101.0	97.0		940,571,940,940	4.9	1.0	16	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF48	NM_001214906.1,NM_001214907.1,NM_001214909.1,NM_152652.2	101,101,101,101	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	314/619,191/496,314/619,314/619	30409511	1,12993	2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409511C>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.940C>T	16.37:g.30409511C>T	ENSP00000324056:p.Arg314Trp					ZNF48_uc002dxz.1_Missense_Mutation_p.R191W	p.R314W	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN			2	999	+			314			C2H2-type 6.		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.940C>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974972	0.53720	2.28E-4	0.0	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.16073	2.37	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002281	T	0.30792	0.0776	L	0.48935	1.535	0.26594	N	0.973146	D	0.89917	1.0	D	0.91635	0.999	T	0.05582	-1.0876	10	0.41790	T	0.15	-12.9205	9.1161	0.36758	0.0:0.9029:0.0:0.0971	.	314	Q96MX3	ZNF48_HUMAN	W	439;314	ENSP00000324056:R314W	ENSP00000324056:R314W	R	+	1	2	ZNF48	30317012	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.213000	0.09305	2.565000	0.86533	0.467000	0.42956	CGG		0.622	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652	
WDR81	124997	broad.mit.edu	37	17	1634533	1634533	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:1634533C>G	ENST00000409644.1	+	4	4138	c.4138C>G	c.(4138-4140)Ctc>Gtc	p.L1380V	WDR81_ENST00000419248.1_Missense_Mutation_p.L153V|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.L329V|WDR81_ENST00000446363.1_Missense_Mutation_p.L19V|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000437219.2_Missense_Mutation_p.L177V	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1380					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTCAGCTTCCTCACCTCCCT	0.647																																						uc002fti.2																			0				skin(1)	1						c.(457-459)CTC>GTC		WD repeat domain 81 isoform 4							65.0	51.0	55.0					17																	1634533		2203	4299	6502	SO:0001583	missense	124997							g.chr17:1634533C>G	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4138C>G	17.37:g.1634533C>G	ENSP00000386609:p.Leu1380Val					WDR81_uc002fth.2_Missense_Mutation_p.L329V|WDR81_uc010vqp.1_Missense_Mutation_p.L177V|WDR81_uc002ftj.2_Missense_Mutation_p.L1380V|WDR81_uc010vqq.1_Intron	p.L153V	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	718	+			153					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.457C>G	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642218	0.67244	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680	T;T;T;T;T	0.61859	1.88;1.88;0.07;1.91;0.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	L	0.60455	1.87	0.80722	D	1	P;D;P	0.69078	0.911;0.997;0.911	B;D;P	0.78314	0.293;0.991;0.51	T	0.69446	-0.5143	10	0.45353	T	0.12	.	12.4141	0.55483	0.0:0.9238:0.0:0.0762	.	177;507;329	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	V	177;329;19;153;1380;131	ENSP00000391074:L177V;ENSP00000312074:L329V;ENSP00000401560:L19V;ENSP00000407845:L153V;ENSP00000386609:L1380V	ENSP00000312074:L329V	L	+	1	0	WDR81	1581283	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.967000	0.49216	2.757000	0.94681	0.655000	0.94253	CTC		0.647	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348	
NCOR1	9611	broad.mit.edu	37	17	16062148	16062148	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:16062148C>T	ENST00000268712.3	-	6	915	c.658G>A	c.(658-660)Gag>Aag	p.E220K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E220K|NCOR1_ENST00000395848.1_Missense_Mutation_p.E111K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	220	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACGGGCTTCTCAGGCTCAGGA	0.488																																						uc002gpo.2																			0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(658-660)GAG>AAG		nuclear receptor co-repressor 1							87.0	77.0	80.0					17																	16062148		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16062148C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.658G>A	17.37:g.16062148C>T	ENSP00000268712:p.Glu220Lys					NCOR1_uc002gpn.2_Missense_Mutation_p.E220K|NCOR1_uc002gpp.1_Missense_Mutation_p.E111K|NCOR1_uc002gpr.2_Missense_Mutation_p.E111K|NCOR1_uc002gps.1_Missense_Mutation_p.E220K|NCOR1_uc010coz.1_Missense_Mutation_p.E36K|NCOR1_uc010cpb.1_Missense_Mutation_p.E220K|NCOR1_uc010cpa.1_Missense_Mutation_p.E220K	p.E220K	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	6	898	-			220			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.658G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704610	0.68615	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D;D	0.71674	0.97;0.97;0.97;0.757;0.978;0.998	P;P;P;B;P;D	0.78314	0.77;0.77;0.77;0.324;0.867;0.991	T	0.57808	-0.7747	10	0.59425	D	0.04	-12.7619	18.4883	0.90838	0.0:1.0:0.0:0.0	.	220;220;220;111;220;220	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	K	220;220;111;220;111;220;220	ENSP00000268712:E220K;ENSP00000379192:E220K;ENSP00000379189:E111K;ENSP00000407998:E220K;ENSP00000387727:E220K	ENSP00000268712:E220K	E	-	1	0	NCOR1	16002873	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.757000	0.85209	2.627000	0.88993	0.655000	0.94253	GAG		0.488	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
SLC4A1	6521	broad.mit.edu	37	17	42335476	42335476	+	Missense_Mutation	SNP	C	C	T	rs201280873		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:42335476C>T	ENST00000262418.6	-	11	1315	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	387					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTAGCGGCGCCGGATATCACG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		17877	0.001		0.0	False		,,,				2504	0.0					uc002igf.3																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1159-1161)CGG>CAG		solute carrier family 4, anion exchanger, member		C	GLN/ARG	0,4406		0,0,2203	79.0	84.0	82.0		1160	-1.5	0.2	17		82	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC4A1	NM_000342.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	387/912	42335476	2,13004	2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335476C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1160G>A	17.37:g.42335476C>T	ENSP00000262418:p.Arg387Gln					SLC4A1_uc002igg.3_Missense_Mutation_p.R387Q	p.R387Q	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	11	1309	-		Breast(137;0.014)|Prostate(33;0.0181)	387			Cytoplasmic.		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1160G>A	CCDS11481.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	14.62	2.591261	0.46214	0.0	2.33E-4	ENSG00000004939	ENST00000262418	T	0.79940	-1.32	4.82	-1.53	0.08611	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.735360	0.12309	N	0.480363	T	0.73489	0.3593	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.29590	0.175;0.25	B;B	0.28232	0.033;0.087	T	0.63116	-0.6709	10	0.49607	T	0.09	.	11.0146	0.47681	0.0:0.6513:0.0:0.3487	.	387;387	E2RVJ0;P02730	.;B3AT_HUMAN	Q	387	ENSP00000262418:R387Q	ENSP00000262418:R387Q	R	-	2	0	SLC4A1	39691002	0.000000	0.05858	0.176000	0.23000	0.963000	0.63663	-0.320000	0.08028	-0.143000	0.11334	0.561000	0.74099	CGG		0.587	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
ABCA5	23461	broad.mit.edu	37	17	67290837	67290837	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:67290837T>G	ENST00000392676.3	-	11	1518	c.1454A>C	c.(1453-1455)aAg>aCg	p.K485T	ABCA5_ENST00000588877.1_Missense_Mutation_p.K485T|ABCA5_ENST00000392677.2_Missense_Mutation_p.K485T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	485	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCTGTATGTCTTCTGAATACC	0.264																																						uc002jif.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1453-1455)AAG>ACG		ATP-binding cassette, sub-family A , member 5							80.0	83.0	82.0					17																	67290837		2203	4298	6501	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67290837T>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1454A>C	17.37:g.67290837T>G	ENSP00000376443:p.Lys485Thr					ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.K485T|ABCA5_uc002jih.2_Missense_Mutation_p.K485T|ABCA5_uc010dfe.2_Missense_Mutation_p.K485T	p.K485T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			10	2672	-	Breast(10;3.72e-11)		485			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1454A>C	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998492	0.74818	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.45276	0.9;0.9	4.83	4.83	0.62350	ABC transporter-like (1);	0.000000	0.64402	D	0.000004	T	0.74306	0.3699	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82926	-0.0215	9	.	.	.	.	13.2667	0.60137	0.0:0.0:0.0:1.0	.	485;485	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	485	ENSP00000376444:K485T;ENSP00000376443:K485T	.	K	-	2	0	ABCA5	64802432	1.000000	0.71417	0.990000	0.47175	0.841000	0.47740	6.267000	0.72546	1.919000	0.55581	0.460000	0.39030	AAG		0.264	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
DPYSL5	56896	broad.mit.edu	37	2	27151139	27151139	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr2:27151139T>C	ENST00000288699.6	+	5	775	c.617T>C	c.(616-618)cTg>cCg	p.L206P	DPYSL5_ENST00000401478.1_Missense_Mutation_p.L206P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	206					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAGGCACTGGATTTGGGG	0.478																																						uc002rhu.3																			0				ovary(2)	2						c.(616-618)CTG>CCG		dihydropyrimidinase-like 5							131.0	115.0	121.0					2																	27151139		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27151139T>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.617T>C	2.37:g.27151139T>C	ENSP00000288699:p.Leu206Pro					DPYSL5_uc002rhv.3_Missense_Mutation_p.L206P	p.L206P	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			5	775	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		206					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.617T>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466959	0.84425	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.91068	-2.78;-2.78	5.63	5.63	0.86233	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.91972	3.26	0.80722	D	1	D	0.55800	0.973	P	0.59595	0.86	D	0.96438	0.9324	10	0.87932	D	0	-9.8441	15.1294	0.72511	0.0:0.0:0.0:1.0	.	206	Q9BPU6	DPYL5_HUMAN	P	206	ENSP00000288699:L206P;ENSP00000385549:L206P	ENSP00000288699:L206P	L	+	2	0	DPYSL5	27004643	1.000000	0.71417	0.909000	0.35828	0.871000	0.50021	7.503000	0.81632	2.281000	0.76405	0.533000	0.62120	CTG		0.478	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134	
ALPPL2	251	broad.mit.edu	37	2	233274470	233274470	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr2:233274470C>T	ENST00000295453.3	+	11	1539	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	496					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGCGACCTGGCGCCCCGCGCC	0.736																																						uc002vss.3																			0				skin(1)	1						c.(1486-1488)GCG>GTG		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						12.0	16.0	14.0					2																	233274470		2177	4240	6417	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274470C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1487C>T	2.37:g.233274470C>T	ENSP00000295453:p.Ala496Val						p.A496V	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1540	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	496					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1487C>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	c	8.393	0.840147	0.16891	.	.	ENSG00000163286	ENST00000295453	D	0.95756	-3.8	2.17	0.0606	0.14336	Alkaline-phosphatase-like, core domain (1);	1.819370	0.02478	N	0.088230	D	0.88720	0.6513	N	0.19112	0.55	0.09310	N	1	B	0.27910	0.193	B	0.14578	0.011	T	0.79011	-0.1977	10	0.40728	T	0.16	.	0.9011	0.01274	0.169:0.2531:0.333:0.2449	.	496	P10696	PPBN_HUMAN	V	496	ENSP00000295453:A496V	ENSP00000295453:A496V	A	+	2	0	ALPPL2	232982714	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-1.487000	0.02310	-0.157000	0.11059	0.205000	0.17691	GCG		0.736	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
CLDN14	23562	broad.mit.edu	37	21	37833394	37833394	+	Silent	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr21:37833394G>A	ENST00000399137.1	-	3	1466	c.600C>T	c.(598-600)gcC>gcT	p.A200A	CLDN14_ENST00000399135.1_Silent_p.A200A|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Silent_p.A200A|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000342108.2_Silent_p.A200A|CLDN14_ENST00000399139.1_Silent_p.A200A|AP000695.4_ENST00000454980.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	200					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						TGGTCGTGGTGGCCCTGGGCG	0.652																																						uc002yvk.1																			0					0						c.(598-600)GCC>GCT		claudin 14							91.0	85.0	87.0					21																	37833394		2203	4300	6503	SO:0001819	synonymous_variant	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833394G>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.600C>T	21.37:g.37833394G>A						CLDN14_uc002yvn.1_Silent_p.A200A|CLDN14_uc002yvo.1_Silent_p.A200A|CLDN14_uc002yvl.1_Silent_p.A200A|CLDN14_uc002yvm.1_Silent_p.A200A	p.A200A	NM_012130	NP_036262	O95500	CLD14_HUMAN			2	742	-			200			Cytoplasmic (Potential).			Silent	SNP	ENST00000399137.1	37	c.600C>T	CCDS13645.1																																																																																				0.652	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492	
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(400-402)aaafs	p.K134fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.K134fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	134					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356																																						uc002zea.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(397-402)AAGAAAfs		trafficking protein particle complex 10																																				SO:0001589	frameshift_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45472274_45472275insA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.407dupA	21.37:g.45472282_45472282dupA	ENSP00000291574:p.Lys134fs					TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Frame_Shift_Ins_p.K133fs	p.K133fs	NM_003274	NP_003265	P48553	TPC10_HUMAN			4	568_569	+			133_134					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	c.399_400insA	CCDS13704.1																																																																																				0.356	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
RFPL1	5988	broad.mit.edu	37	22	29834818	29834818	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr22:29834818C>T	ENST00000354373.2	+	1	247	c.38C>T	c.(37-39)tCa>tTa	p.S13L	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	13							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AACAGGCTTTCACCTCACGGA	0.463																																						uc003afn.2																			0					0						c.(37-39)TCA>TTA		ret finger protein-like 1							116.0	111.0	112.0					22																	29834818		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29834818C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.38C>T	22.37:g.29834818C>T	ENSP00000346342:p.Ser13Leu					RFPL1S_uc003afm.1_RNA	p.S13L	NM_021026	NP_066306	O75677	RFPL1_HUMAN			1	247	+			13					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.38C>T	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	8.761	0.923499	0.18056	.	.	ENSG00000128250	ENST00000354373	T	0.52057	0.68	1.93	0.814	0.18756	.	.	.	.	.	T	0.28101	0.0693	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17440	-1.0369	9	0.35671	T	0.21	.	5.1482	0.14996	0.0:0.7942:0.0:0.2058	.	13	O75677	RFPL1_HUMAN	L	13	ENSP00000346342:S13L	ENSP00000346342:S13L	S	+	2	0	RFPL1	28164818	0.048000	0.20356	0.003000	0.11579	0.012000	0.07955	1.630000	0.37081	0.102000	0.17638	0.493000	0.49557	TCA		0.463	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026	
CCDC12	151903	broad.mit.edu	37	3	46965117	46965117	+	Missense_Mutation	SNP	C	C	T	rs566710688		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:46965117C>T	ENST00000546280.1	-	4	333	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CCDC12_ENST00000292314.2_Missense_Mutation_p.E109K|CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000425441.1_Missense_Mutation_p.E109K	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	96										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		ATGACGGGCTCGGGCTTGGCG	0.607											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		19508	0.0		0.0	False		,,,				2504	0.001					uc011baq.1																			0					0						c.(325-327)GAG>AAG		coiled-coil domain containing 12							62.0	51.0	55.0					3																	46965117		2203	4300	6503	SO:0001583	missense	151903							g.chr3:46965117C>T	BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.286G>A	3.37:g.46965117C>T	ENSP00000441327:p.Glu96Lys		OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	CCDC12_uc003cqo.2_Missense_Mutation_p.E109K	p.E109K	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)	4	334	-		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)	96					Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	37	c.325G>A		.	.	.	.	.	.	.	.	.	.	C	14.07	2.426036	0.43020	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	M	0.65320	2	0.80722	D	1	D;D	0.89917	1.0;0.978	D;B	0.72625	0.978;0.387	T	0.70350	-0.4896	9	0.21540	T	0.41	.	15.8977	0.79346	0.0:1.0:0.0:0.0	.	96;96	B4DZZ9;Q8WUD4	.;CCD12_HUMAN	K	109;109;96	.	ENSP00000292314:E109K	E	-	1	0	CCDC12	46940121	1.000000	0.71417	0.959000	0.39883	0.122000	0.20287	4.753000	0.62183	2.415000	0.81967	0.650000	0.86243	GAG		0.607	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144716	
OR5H1	26341	broad.mit.edu	37	3	97851850	97851850	+	Silent	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:97851850G>A	ENST00000354565.2	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S103S(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGTTTTTTTCGTTTGCAATCA	0.388																																						uc011bgt.1																			1	Substitution - coding silent(1)		kidney(1)	ovary(1)|breast(1)	2						c.(307-309)TCG>TCA		olfactory receptor, family 5, subfamily H,							194.0	187.0	190.0					3																	97851850		2202	4299	6501	SO:0001819	synonymous_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851850G>A	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.309G>A	3.37:g.97851850G>A							p.S103S	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	309	+			103			Helical; Name=3; (Potential).			Silent	SNP	ENST00000354565.2	37	c.309G>A	CCDS33797.1																																																																																				0.388	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
SLC9C1	285335	broad.mit.edu	37	3	111997653	111997653	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:111997653G>A	ENST00000305815.5	-	4	493	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R81C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	81					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GTAAATATACGAAAAAATAAG	0.313																																						uc003dyu.2																			0				ovary(3)|breast(2)	5						c.(241-243)CGT>TGT		sperm-specific sodium proton exchanger							116.0	126.0	123.0					3																	111997653		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111997653G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.241C>T	3.37:g.111997653G>A	ENSP00000306627:p.Arg81Cys					SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.R81C	p.R81C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			4	463	-			81			Helical; (Potential).		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.241C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287527	0.05605	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.06449	3.3;3.3;3.3	5.14	-5.51	0.02568	Cation/H+ exchanger (1);	1.461700	0.03830	N	0.268951	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.40979	-0.9534	10	0.36615	T	0.2	-8.6278	2.886	0.05661	0.1046:0.1535:0.3093:0.4325	.	81;81	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	81;81;8	ENSP00000306627:R81C;ENSP00000420688:R81C;ENSP00000417274:R8C	ENSP00000306627:R81C	R	-	1	0	SLC9A10	113480343	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.333000	0.00508	-1.155000	0.02822	-1.899000	0.00529	CGT		0.313	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
SOX14	8403	broad.mit.edu	37	3	137484038	137484038	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:137484038C>G	ENST00000306087.1	+	1	460	c.412C>G	c.(412-414)Ctg>Gtg	p.L138V		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	138					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						GCCCTACTCCCTGCTGGACCC	0.721																																						uc003erm.1																			0					0						c.(412-414)CTG>GTG		SRY-box 14							14.0	17.0	16.0					3																	137484038		2197	4280	6477	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484038C>G	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.412C>G	3.37:g.137484038C>G	ENSP00000305343:p.Leu138Val						p.L138V	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	460	+			138					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.412C>G	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248471	0.10130	.	.	ENSG00000168875	ENST00000306087	D	0.96200	-3.94	4.7	4.7	0.59300	.	0.087475	0.47455	D	0.000224	D	0.90762	0.7100	L	0.40543	1.245	0.32070	N	0.594516	B	0.15473	0.013	B	0.15052	0.012	D	0.84462	0.0594	10	0.08599	T	0.76	.	11.7654	0.51928	0.0:0.9066:0.0:0.0934	.	138	O95416	SOX14_HUMAN	V	138	ENSP00000305343:L138V	ENSP00000305343:L138V	L	+	1	2	SOX14	138966728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.665000	0.46791	2.449000	0.82847	0.511000	0.50034	CTG		0.721	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189	
UGT2B28	54490	broad.mit.edu	37	4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr4:70148376C>A	ENST00000335568.5	+	2	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P289H	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	289					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAACCCCTACCTAAGGTAAAC	0.383																																						uc003hej.2																			0				skin(1)	1						c.(865-867)CCT>CAT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						103.0	127.0	119.0					4																	70148376		2027	4232	6259	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70148376C>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.866C>A	4.37:g.70148376C>A	ENSP00000334276:p.Pro289His					UGT2B28_uc010ihr.2_Missense_Mutation_p.P289H	p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			2	868	+			289					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.866C>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	12.86	2.064521	0.36470	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.66815	-0.23;-0.23	2.18	2.18	0.27775	.	0.075448	0.53938	U	0.000051	D	0.85961	0.5819	H	0.97682	4.055	0.32286	N	0.566911	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.88058	0.2792	10	0.87932	D	0	.	10.0404	0.42155	0.0:1.0:0.0:0.0	.	289;289	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	H	289	ENSP00000334276:P289H;ENSP00000427399:P289H	ENSP00000334276:P289H	P	+	2	0	UGT2B28	70182965	1.000000	0.71417	0.934000	0.37439	0.321000	0.28281	4.909000	0.63314	1.229000	0.43630	0.184000	0.17185	CCT		0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
ENPEP	2028	broad.mit.edu	37	4	111398043	111398043	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr4:111398043G>A	ENST00000265162.5	+	1	815	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	158					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GTGCAAGTCCGGAGGTGTTTC	0.627																																						uc003iab.3																			0				skin(3)|ovary(1)|breast(1)	5						c.(472-474)CGG>CAG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						92.0	104.0	100.0					4																	111398043		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398043G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.473G>A	4.37:g.111398043G>A	ENSP00000265162:p.Arg158Gln						p.R158Q	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	815	+		Hepatocellular(203;0.217)	158			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.473G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	4.682	0.126720	0.08931	.	.	ENSG00000138792	ENST00000265162	T	0.02525	4.26	5.43	-6.45	0.01914	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.106740	0.06951	N	0.814568	T	0.01421	0.0046	N	0.04805	-0.155	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.50955	-0.8766	10	0.13853	T	0.58	.	10.9386	0.47260	0.631:0.2726:0.0964:0.0	.	158	Q07075	AMPE_HUMAN	Q	158	ENSP00000265162:R158Q	ENSP00000265162:R158Q	R	+	2	0	ENPEP	111617492	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.440000	0.06888	-0.865000	0.04073	-0.975000	0.02590	CGG		0.627	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
PCDHB15	56121	broad.mit.edu	37	5	140626805	140626805	+	Silent	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140626805C>T	ENST00000231173.3	+	1	1659	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D553D(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.711																																						uc003lje.2																			1	Substitution - coding silent(1)		endometrium(1)	ovary(2)|breast(2)|skin(1)	5						c.(1657-1659)GAC>GAT		protocadherin beta 15 precursor							27.0	33.0	31.0					5																	140626805		2200	4293	6493	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626805C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1659C>T	5.37:g.140626805C>T							p.D553D	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1659	+			553			Extracellular (Potential).|Cadherin 5.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1659C>T	CCDS4257.1																																																																																				0.711	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
PCDHGB2	56103	broad.mit.edu	37	5	140740727	140740727	+	Missense_Mutation	SNP	A	A	C	rs150123769	byFrequency	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140740727A>C	ENST00000522605.1	+	1	1025	c.1025A>C	c.(1024-1026)gAt>gCt	p.D342A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	342	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGACAACGATTGTGCACCT	0.448																																						uc003ljs.1																			0					0						c.(1024-1026)GAT>GCT		protocadherin gamma subfamily B, 2 isoform 1							84.0	82.0	83.0					5																	140740727		2083	4231	6314	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740727A>C	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1025A>C	5.37:g.140740727A>C	ENSP00000429018:p.Asp342Ala					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.D342A	p.D342A	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1025	+			342			Extracellular (Potential).|Cadherin 3.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1025A>C	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	12.31	1.901007	0.33535	.	.	ENSG00000253910	ENST00000522605	D	0.91792	-2.91	5.54	5.54	0.83059	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.98105	0.9375	H	0.99732	4.735	0.35269	D	0.780304	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99979	1.2384	9	0.87932	D	0	.	15.6442	0.77036	1.0:0.0:0.0:0.0	.	342;342	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	A	342	ENSP00000429018:D342A	ENSP00000429018:D342A	D	+	2	0	PCDHGB2	140720911	1.000000	0.71417	0.722000	0.30670	0.008000	0.06430	9.169000	0.94788	2.223000	0.72356	0.533000	0.62120	GAT		0.448	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
PCDHGA11	56105	broad.mit.edu	37	5	140802685	140802685	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140802685C>T	ENST00000398587.2	+	1	1924	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTACAGCGCGGGCACTGCT	0.687																																						uc003lkq.1																			0					0						c.(1891-1893)CGG>TGG		protocadherin gamma subfamily A, 11 isoform 1							44.0	52.0	50.0					5																	140802685		2203	4299	6502	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802685C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1891C>T	5.37:g.140802685C>T	ENSP00000381589:p.Arg631Trp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R631W|PCDHGA11_uc003lkp.1_Intron	p.R631W	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2149	+			631			Extracellular (Potential).|Cadherin 6.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1891C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	10.44	1.351053	0.24512	.	.	ENSG00000253873	ENST00000398587	T	0.54279	0.58	5.37	1.33	0.21861	Cadherin (4);Cadherin-like (1);	0.000000	0.26016	U	0.026856	T	0.78729	0.4329	H	0.96111	3.77	0.21782	N	0.999548	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72469	-0.4284	10	0.87932	D	0	.	12.1009	0.53783	0.5446:0.3492:0.1062:0.0	.	631;631	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	W	631	ENSP00000381589:R631W	ENSP00000381589:R631W	R	+	1	2	PCDHGA11	140782869	0.000000	0.05858	0.009000	0.14445	0.319000	0.28217	-0.598000	0.05706	-0.043000	0.13513	0.561000	0.74099	CGG		0.687	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914	
SGK1	6446	broad.mit.edu	37	6	134582969	134582969	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr6:134582969C>T	ENST00000524929.1	-	2	555	c.387G>A	c.(385-387)atG>atA	p.M129I	SGK1_ENST00000367858.5_Intron			O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TATAAATATGCATTAAAAAAT	0.313																																						uc003qep.2																			0				skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6						c.(385-387)ATG>ATA		SubName: Full=Putative uncharacterized protein DKFZp686H1615;																																				SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134582969C>T	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000524929.1:c.387G>A	6.37:g.134582969C>T	ENSP00000435724:p.Met129Ile					SGK1_uc003qeo.3_Intron	p.M129I			O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	2	985	-	Colorectal(23;0.221)		Error:Variant_position_missing_in_O00141_after_alignment					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000524929.1	37	c.387G>A		.	.	.	.	.	.	.	.	.	.	C	7.934	0.741263	0.15642	.	.	ENSG00000118515	ENST00000524929	.	.	.	4.87	-1.47	0.08772	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41662	-0.9496	7	0.87932	D	0	.	9.7766	0.40623	0.0:0.467:0.0:0.533	.	129	Q7Z3I4	.	I	129	.	ENSP00000435724:M129I	M	-	3	0	SGK1	134624662	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.267000	0.08619	-0.191000	0.10448	-0.244000	0.11960	ATG		0.313	SGK1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000042305.2		
ABCA13	154664	broad.mit.edu	37	7	48412010	48412010	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:48412010C>A	ENST00000435803.1	+	33	11073	c.11049C>A	c.(11047-11049)agC>agA	p.S3683R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3683					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGTACCAGCCTGGTGTACA	0.403																																						uc003toq.2																			0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11047-11049)AGC>AGA		ATP binding cassette, sub-family A (ABC1),							181.0	173.0	176.0					7																	48412010		1961	4160	6121	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48412010C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11049C>A	7.37:g.48412010C>A	ENSP00000411096:p.Ser3683Arg					ABCA13_uc010kys.1_Missense_Mutation_p.S757R|ABCA13_uc003tos.1_Missense_Mutation_p.S509R	p.S3683R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			33	11074	+			3683			Helical; (Potential).		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11049C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249734	0.59212	.	.	ENSG00000179869	ENST00000435803	D	0.87571	-2.27	5.77	1.95	0.26073	.	0.095034	0.46442	D	0.000298	D	0.92208	0.7529	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	D	0.91334	0.5092	10	0.72032	D	0.01	.	10.4146	0.44314	0.0:0.7215:0.0:0.2785	.	1385;3683	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	3683	ENSP00000411096:S3683R	ENSP00000411096:S3683R	S	+	3	2	ABCA13	48382556	1.000000	0.71417	0.969000	0.41365	0.691000	0.40173	2.494000	0.45329	0.461000	0.27071	-0.136000	0.14681	AGC		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
SEMA3C	10512	broad.mit.edu	37	7	80456743	80456743	+	Missense_Mutation	SNP	T	T	G	rs13310887		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:80456743T>G	ENST00000265361.3	-	4	886	c.325A>C	c.(325-327)Aca>Cca	p.T109P	SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Missense_Mutation_p.T109P|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T127P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	109	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACACTTACTGTGGGATCTTTG	0.338																																						uc003uhj.2																			0				ovary(1)	1						c.(325-327)ACA>CCA		semaphorin 3C precursor							33.0	34.0	34.0					7																	80456743		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80456743T>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.325A>C	7.37:g.80456743T>G	ENSP00000265361:p.Thr109Pro					SEMA3C_uc011kgw.1_Missense_Mutation_p.T127P|SEMA3C_uc011kgx.1_Intron	p.T109P	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			4	887	-			109			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.325A>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.756934	0.49362	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.10960	2.82;2.82;2.82	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.044872	0.85682	D	0.000000	T	0.17789	0.0427	L	0.50333	1.59	0.80722	D	1	B;B	0.32365	0.317;0.367	B;B	0.41666	0.248;0.363	T	0.01930	-1.1245	10	0.39692	T	0.17	.	16.1819	0.81915	0.0:0.0:0.0:1.0	rs13310887;rs13310887	127;109	F5H1Z7;Q99985	.;SEM3C_HUMAN	P	109;109;127	ENSP00000265361:T109P;ENSP00000411193:T109P;ENSP00000445649:T127P	ENSP00000265361:T109P	T	-	1	0	SEMA3C	80294679	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.243000	0.78219	2.279000	0.76181	0.533000	0.62120	ACA		0.338	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
GRM3	2913	broad.mit.edu	37	7	86415951	86415951	+	Silent	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:86415951G>A	ENST00000361669.2	+	3	1942	c.843G>A	c.(841-843)tcG>tcA	p.S281S	GRM3_ENST00000394720.2_Silent_p.S279S|GRM3_ENST00000439827.1_Silent_p.S281S|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Silent_p.S153S|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	281					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCGACGACTCGCGGGAGCTCA	0.662																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(841-843)TCG>TCA		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						34.0	40.0	38.0					7																	86415951		2202	4299	6501	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415951G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.843G>A	7.37:g.86415951G>A						GRM3_uc010lef.2_Silent_p.S279S|GRM3_uc010leg.2_Silent_p.S153S|GRM3_uc010leh.2_Intron	p.S281S	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1942	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		281			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.843G>A	CCDS5600.1																																																																																				0.662	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
COL26A1	136227	broad.mit.edu	37	7	101063350	101063350	+	RNA	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:101063350G>A	ENST00000397927.3	+	0	464				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											CAGAGCTGCCGGTGGCCGGGG	0.647																																						uc010lhy.1																			0				ovary(1)	1						c.(250-252)CGG>CAG		EMI domain containing 2							29.0	39.0	35.0					7																	101063350		2022	4162	6184			136227					collagen		g.chr7:101063350G>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063350G>A						EMID2_uc003uyo.1_Missense_Mutation_p.R84Q	p.R84Q	NM_133457	NP_597714	Q96A83	EMID2_HUMAN			2	443	+	Lung NSC(181;0.215)		84			EMI.		Q32M90	Missense_Mutation	SNP	ENST00000397927.3	37	c.251G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.772359	0.90108	.	.	ENSG00000160963	ENST00000313669	T	0.46451	0.87	4.95	4.03	0.46877	EMI domain (2);	0.000000	0.34025	U	0.004332	T	0.59390	0.2190	M	0.71581	2.175	0.25488	N	0.987671	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.52823	-0.8524	10	0.28530	T	0.3	.	12.0464	0.53483	0.0:0.0:0.8259:0.1741	.	84;84	Q96A83;C9JPW4	EMID2_HUMAN;.	Q	84	ENSP00000318234:R84Q	ENSP00000318234:R84Q	R	+	2	0	EMID2	100850070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.026000	0.93700	1.020000	0.39573	0.558000	0.71614	CGG		0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457	
FBXL13	222235	broad.mit.edu	37	7	102604030	102604030	+	Missense_Mutation	SNP	C	C	T	rs180901632		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:102604030C>T	ENST00000313221.4	-	8	1100	c.674G>A	c.(673-675)cGt>cAt	p.R225H	FBXL13_ENST00000379305.3_Missense_Mutation_p.R225H|FBXL13_ENST00000393772.2_Missense_Mutation_p.R225H|FBXL13_ENST00000456695.1_Missense_Mutation_p.R225H|FBXL13_ENST00000379306.3_Missense_Mutation_p.R225H|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Missense_Mutation_p.R225H|FBXL13_ENST00000379308.3_Missense_Mutation_p.R225H|FBXL13_ENST00000436908.1_Missense_Mutation_p.R225H	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	225										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AAAATTCAAACGCAGCACATT	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		18067	0.0		0.001	False		,,,				2504	0.0					uc003vaq.2																			0					0						c.(673-675)CGT>CAT		F-box and leucine-rich repeat protein 13 isoform							96.0	98.0	97.0					7																	102604030		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102604030C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.674G>A	7.37:g.102604030C>T	ENSP00000321927:p.Arg225His					FBXL13_uc010liq.1_Missense_Mutation_p.R40H|FBXL13_uc010lir.1_Missense_Mutation_p.R225H|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R225H|FBXL13_uc003vav.2_RNA	p.R225H	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			8	1101	-			225					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.674G>A	CCDS5726.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.90	3.720809	0.68959	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.53423	2.34;2.34;2.34;2.34;0.62;0.62;2.34;2.34	5.83	4.95	0.65309	.	0.311573	0.28748	N	0.014268	T	0.56156	0.1966	L	0.52364	1.645	0.29919	N	0.822866	P;D;D;P	0.71674	0.865;0.998;0.998;0.46	B;P;P;B	0.62813	0.129;0.907;0.907;0.09	T	0.53844	-0.8381	10	0.19590	T	0.45	.	11.5604	0.50774	0.0:0.8551:0.0:0.1449	.	225;225;225;225	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	H	225;225;225;152;225;225;225;225;225	ENSP00000377367:R225H;ENSP00000368610:R225H;ENSP00000368608:R225H;ENSP00000368607:R225H;ENSP00000388608:R225H;ENSP00000321927:R225H;ENSP00000409716:R225H;ENSP00000391550:R225H	ENSP00000321927:R225H	R	-	2	0	FBXL13	102391266	0.951000	0.32395	1.000000	0.80357	0.883000	0.51084	0.725000	0.25970	1.460000	0.47911	0.650000	0.86243	CGT		0.328	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
RELN	5649	broad.mit.edu	37	7	103368566	103368566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:103368566G>A	ENST00000428762.1	-	7	904	c.745C>T	c.(745-747)Cga>Tga	p.R249*	RELN_ENST00000424685.2_Nonsense_Mutation_p.R249*|RELN_ENST00000343529.5_Nonsense_Mutation_p.R249*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	249					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCAGTTCTCGTGGGCCATAT	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(745-747)CGA>TGA		reelin isoform a							135.0	110.0	118.0					7																	103368566		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103368566G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.745C>T	7.37:g.103368566G>A	ENSP00000392423:p.Arg249*					RELN_uc010liz.2_Nonsense_Mutation_p.R249*	p.R249*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	7	905	-			249					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.745C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	38	6.975019	0.97975	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.66	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5635	0.61804	0.0:0.0:0.3645:0.6355	.	.	.	.	X	249	.	ENSP00000345694:R249X	R	-	1	2	RELN	103155802	0.974000	0.33945	0.884000	0.34674	0.995000	0.86356	1.690000	0.37711	0.693000	0.31634	-0.122000	0.15005	CGA		0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
CSMD1	64478	broad.mit.edu	37	8	3216774	3216774	+	Silent	SNP	C	C	T	rs370198228		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr8:3216774C>T	ENST00000520002.1	-	22	3762	c.3207G>A	c.(3205-3207)acG>acA	p.T1069T	CSMD1_ENST00000400186.3_Silent_p.T1069T|CSMD1_ENST00000542608.1_Silent_p.T1068T|CSMD1_ENST00000602557.1_Silent_p.T1069T|CSMD1_ENST00000539096.1_Silent_p.T1068T|CSMD1_ENST00000537824.1_Silent_p.T1068T|CSMD1_ENST00000602723.1_Silent_p.T1069T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1069	Sushi 6. {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)		AGCAGGAAAACGTCAGAGAGT	0.552																																						uc011kwk.1																			0				breast(20)|large_intestine(5)	25						c.(3205-3207)ACG>ACA		CUB and Sushi multiple domains 1 precursor				3,4403	4.2+/-10.8	0,3,2200	71.0	77.0	75.0		3204	-10.5	0.1	8		75	0,8600		0,0,4300	no	coding-synonymous	CSMD1	NM_033225.5		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		1068/3565	3216774	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3216774C>T			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.3207G>A	8.37:g.3216774C>T						CSMD1_uc011kwj.1_Silent_p.T461T|CSMD1_uc003wqe.2_Silent_p.T225T	p.T1069T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		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)	21	3597	-		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)	1069			Sushi 6.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3207G>A		.	.	.	.	.	.	.	.	.	.	c	0.130	-1.114315	0.01799	6.81E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.24	-10.5	0.00291	.	.	.	.	.	T	0.33352	0.0860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43589	-0.9382	4	.	.	.	.	2.4807	0.04587	0.2701:0.3878:0.1459:0.1962	.	.	.	.	I	549	.	.	V	-	1	0	CSMD1	3204181	0.000000	0.05858	0.067000	0.19924	0.037000	0.13140	-2.651000	0.00857	-3.059000	0.00257	-1.213000	0.01624	GTT		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs387906562|rs369807922		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													uc003zkv.3																			2	Deletion - Frameshift(2)		NS(1)|lung(1)	lung(1)	1	GRCh37	CD085016	TYRP1	D		c.(1054-1059)ACAAACfs		tyrosinase-related protein 1 precursor																																				SO:0001589	frameshift_variant	7306	Oculocutaneous_Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs						p.T352fs	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1232_1235	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352_353			Lumenal, melanosome (Potential).		P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550	
INIP	58493	broad.mit.edu	37	9	115451883	115451883	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr9:115451883C>A	ENST00000374242.4	-	4	448	c.143G>T	c.(142-144)aGa>aTa	p.R48I	INIP_ENST00000374236.1_Missense_Mutation_p.R18I|INIP_ENST00000374238.1_Intron|INIP_ENST00000374234.1_Intron|INIP_ENST00000497712.2_5'UTR	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	48					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)											AAGAGAGGGTCTCGAGAGTGC	0.428																																						uc004bgg.2																			0					0						c.(142-144)AGA>ATA		SOSSC protein							118.0	106.0	110.0					9																	115451883		2203	4300	6503	SO:0001583	missense	58493				DNA repair|response to ionizing radiation	SOSS complex	protein binding	g.chr9:115451883C>A	AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"""hSSB-interacting protein 1"", ""sensor of single-strand DNA complex subunit C"", ""minute INTS3/hSSB-associated element"""	613273	"""chromosome 9 open reading frame 80"""	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.143G>T	9.37:g.115451883C>A	ENSP00000363360:p.Arg48Ile					C9orf80_uc010muk.2_Intron	p.R48I	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN			4	320	-			48					Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	ENST00000374242.4	37	c.143G>T	CCDS6785.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104032	0.94245	.	.	ENSG00000148153	ENST00000374242;ENST00000374236	.	.	.	5.74	5.74	0.90152	.	0.084597	0.85682	D	0.000000	T	0.78413	0.4279	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.77456	-0.2581	9	0.56958	D	0.05	-19.1033	19.9465	0.97184	0.0:1.0:0.0:0.0	.	48	Q9NRY2	SOSSC_HUMAN	I	48;18	.	ENSP00000363353:R18I	R	-	2	0	C9orf80	114491704	1.000000	0.71417	0.477000	0.27303	0.169000	0.22640	6.582000	0.74049	2.885000	0.99019	0.579000	0.79373	AGA		0.428	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053692.2	NM_021218	
SPIN2B	474343	broad.mit.edu	37	X	57146697	57146697	+	Silent	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chrX:57146697G>A	ENST00000333933.3	-	2	676	c.366C>T	c.(364-366)gcC>gcT	p.A122A	SPIN2B_ENST00000275988.5_Silent_p.A122A|SPIN2B_ENST00000374910.3_Intron|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000374912.5_Silent_p.A122A	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	122					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						TTGCAAGGTTGGCATCACTAA	0.433																																						uc004duy.2																			0					0						c.(364-366)GCC>GCT		spindlin-like protein 2							94.0	83.0	87.0					X																	57146697		2200	4295	6495	SO:0001819	synonymous_variant	474343				apoptosis|cell cycle|gamete generation	nucleus		g.chrX:57146697G>A	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.366C>T	X.37:g.57146697G>A						SPIN2B_uc004duz.2_Silent_p.A122A|SPIN2B_uc004dva.2_Silent_p.A122A|uc011mor.1_RNA	p.A122A	NM_001006682	NP_001006683	Q9BPZ2	SPI2B_HUMAN			2	625	-			122					Q7Z2M0	Silent	SNP	ENST00000333933.3	37	c.366C>T	CCDS35311.1																																																																																				0.433	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681	
