#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
ATP13A2	23400	broad.mit.edu	37	1	17316634	17316634	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:17316634C>T	ENST00000326735.8	-	21	2433	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	ATP13A2_ENST00000452699.1_Silent_p.V795V|ATP13A2_ENST00000341676.5_Silent_p.V795V|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	800					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TAACGCCATTCACGGCTGTGG	0.642																																						uc001baa.2																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2398-2400)GTG>GTA		ATPase type 13A2 isoform 1							62.0	57.0	59.0					1																	17316634		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17316634C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2400G>A	1.37:g.17316634C>T						ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Silent_p.V795V|ATP13A2_uc001bac.2_Silent_p.V795V	p.V800V	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	21	2590	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	800			Cytoplasmic (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.2400G>A	CCDS175.1																																																																																				0.642	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
TAS1R2	80834	broad.mit.edu	37	1	19166669	19166669	+	Silent	SNP	G	G	A	rs573131606	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:19166669G>A	ENST00000375371.3	-	6	1965	c.1944C>T	c.(1942-1944)atC>atT	p.I648I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	648					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AACGCACGGCGATACAGGAGA	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		19152	0.002		0.0	False		,,,				2504	0.0					uc001bba.1																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1942-1944)ATC>ATT		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						114.0	116.0	115.0					1																	19166669		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166669G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1944C>T	1.37:g.19166669G>A							p.I648I	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1945	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	648			Helical; Name=3; (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1944C>T	CCDS187.1																																																																																				0.627	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
KIF17	57576	broad.mit.edu	37	1	21009290	21009290	+	Silent	SNP	G	G	A	rs373972661	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:21009290G>A	ENST00000247986.2	-	11	2629	c.2319C>T	c.(2317-2319)taC>taT	p.Y773Y	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.Y773Y|KIF17_ENST00000375044.1_Silent_p.Y673Y			Q9P2E2	KIF17_HUMAN	kinesin family member 17	773					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCTCGTCTGCGTAGCGCTTGC	0.622																																						uc001bdr.3																			0				ovary(3)|skin(1)	4						c.(2317-2319)TAC>TAT		kinesin family member 17 isoform a		G	,	1,4405	2.1+/-5.4	0,1,2202	89.0	77.0	81.0		2319,2319	-2.5	0.9	1		81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	773/1029,773/1030	21009290	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009290G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2319C>T	1.37:g.21009290G>A						KIF17_uc001bdp.3_Silent_p.Y51Y|KIF17_uc001bdq.3_Silent_p.Y51Y|KIF17_uc009vpx.2_Silent_p.Y143Y|KIF17_uc001bds.3_Silent_p.Y773Y	p.Y773Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	11	2437	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	773			Potential.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2319C>T	CCDS213.1																																																																																				0.622	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
GJB4	127534	broad.mit.edu	37	1	35227336	35227336	+	Missense_Mutation	SNP	G	G	A	rs566099103		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:35227336G>A	ENST00000339480.1	+	2	851	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	161					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CATGCCCCGCGTGGTGGCCTG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20599	0.0		0.0	False		,,,				2504	0.001					uc001bxv.1																			0				ovary(2)|central_nervous_system(1)	3						c.(481-483)GTG>ATG		gap junction protein, beta 4							55.0	48.0	51.0					1																	35227336		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227336G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.481G>A	1.37:g.35227336G>A	ENSP00000345868:p.Val161Met					GJB4_uc001bxw.3_Missense_Mutation_p.V161M	p.V161M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			2	851	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	161			Extracellular (Potential).		B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.481G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192676	0.58017	.	.	ENSG00000189433	ENST00000339480	D	0.95656	-3.77	5.73	3.87	0.44632	Gap junction protein, cysteine-rich domain (1);	0.074342	0.56097	D	0.000035	D	0.91875	0.7428	L	0.50993	1.605	0.32781	N	0.502531	P	0.47962	0.903	B	0.43889	0.435	D	0.91034	0.4866	10	0.62326	D	0.03	.	2.1765	0.03864	0.2162:0.1324:0.5146:0.1367	.	161	Q9NTQ9	CXB4_HUMAN	M	161	ENSP00000345868:V161M	ENSP00000345868:V161M	V	+	1	0	GJB4	34999923	0.321000	0.24625	0.895000	0.35142	0.911000	0.54048	0.829000	0.27449	0.793000	0.33875	0.655000	0.94253	GTG		0.582	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212	
CD53	963	broad.mit.edu	37	1	111439300	111439300	+	Missense_Mutation	SNP	C	C	T	rs369006161		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:111439300C>T	ENST00000271324.5	+	6	561	c.449C>T	c.(448-450)aCg>aTg	p.T150M	CD53_ENST00000497404.1_Intron|CD53_ENST00000429072.2_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	150					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATAAATGGCACGAGTGATTGG	0.428																																						uc001dzw.2																			0					0						c.(448-450)ACG>ATG		CD53 antigen		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	199.0	181.0	187.0		449,449	4.4	0.2	1		187	0,8600		0,0,4300	no	missense,missense	CD53	NM_000560.3,NM_001040033.1	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	150/220,150/220	111439300	1,13005	2203	4300	6503	SO:0001583	missense	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111439300C>T	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.449C>T	1.37:g.111439300C>T	ENSP00000271324:p.Thr150Met					CD53_uc001dzx.2_Missense_Mutation_p.T150M|CD53_uc010owa.1_Intron|CD53_uc001dzy.2_Intron	p.T150M	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	7	620	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	150			Extracellular (Potential).		B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	c.449C>T	CCDS829.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522267	0.44866	2.27E-4	0.0	ENSG00000143119	ENST00000271324	T	0.79653	-1.29	5.39	4.42	0.53409	Tetraspanin, EC2 domain (1);	0.986478	0.08291	N	0.968509	T	0.79759	0.4501	M	0.63843	1.955	0.22996	N	0.998452	D	0.65815	0.995	P	0.56960	0.81	T	0.67114	-0.5752	10	0.36615	T	0.2	.	11.2373	0.48949	0.0:0.8151:0.1849:0.0	.	150	P19397	CD53_HUMAN	M	150	ENSP00000271324:T150M	ENSP00000271324:T150M	T	+	2	0	CD53	111240823	0.000000	0.05858	0.245000	0.24217	0.699000	0.40488	0.567000	0.23608	2.511000	0.84671	0.491000	0.48974	ACG		0.428	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560	
SPAG17	200162	broad.mit.edu	37	1	118558655	118558655	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:118558655C>A	ENST00000336338.5	-	29	4285	c.4220G>T	c.(4219-4221)gGa>gTa	p.G1407V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1407						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTTCTAATCCTTTGGTGCC	0.448																																						uc001ehk.2																			0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4219-4221)GGA>GTA		sperm associated antigen 17							162.0	174.0	170.0					1																	118558655		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118558655C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4220G>T	1.37:g.118558655C>A	ENSP00000337804:p.Gly1407Val						p.G1407V	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	29	4288	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1407					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4220G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479271	0.44044	.	.	ENSG00000155761	ENST00000336338	T	0.27720	1.65	4.81	4.81	0.61882	.	0.189553	0.44097	D	0.000500	T	0.45458	0.1343	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.47018	-0.9149	10	0.62326	D	0.03	.	14.7986	0.69898	0.0:1.0:0.0:0.0	.	1407	Q6Q759	SPG17_HUMAN	V	1407	ENSP00000337804:G1407V	ENSP00000337804:G1407V	G	-	2	0	SPAG17	118360178	0.998000	0.40836	0.942000	0.38095	0.130000	0.20726	4.681000	0.61663	2.224000	0.72417	0.460000	0.39030	GGA		0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
FLG	2312	broad.mit.edu	37	1	152275641	152275641	+	Silent	SNP	G	G	A	rs374091552		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:152275641G>A	ENST00000368799.1	-	3	11756	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11719-11721)CGC>CGT		filaggrin		A		1,4405	2.1+/-5.4	0,1,2202	97.0	97.0	97.0		11721	-4.5	0.0	1		97	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3907/4062	152275641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275641G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11721C>T	1.37:g.152275641G>A							p.R3907R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11757	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3907			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11721C>T	CCDS30860.1																																																																																				0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
MUC1	4582	broad.mit.edu	37	1	155161953	155161953	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155161953T>C	ENST00000368395.1	-	2	251	c.180A>G	c.(178-180)gtA>gtG	p.V60V	MUC1_ENST00000368393.3_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	842					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)	p.V60V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTGGAGAGTACGCTGCTGG	0.587			T	IGH@	B-NHL																																	uc010pft.1				Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(178-180)GTA>GTG		SubName: Full=MUC1 isoform M13;							129.0	125.0	126.0					1																	155161953		2203	4299	6502	SO:0001819	synonymous_variant	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161953T>C	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.180A>G	1.37:g.155161953T>C						RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V69V|MUC1_uc001fiw.1_Silent_p.V60V	p.V60V			P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	246	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		60			Extracellular (Potential).		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Silent	SNP	ENST00000368395.1	37	c.180A>G	CCDS55640.1																																																																																				0.587	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456	
RIT1	6016	broad.mit.edu	37	1	155870206	155870206	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155870206G>C	ENST00000368323.3	-	6	837	c.633C>G	c.(631-633)ttC>ttG	p.F211L	RIT1_ENST00000539040.1_Missense_Mutation_p.F175L|RIT1_ENST00000368322.3_Missense_Mutation_p.F228L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	211					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TCTTCTTCCGGAATGGTGATT	0.423																																						uc001fmh.1																			0				breast(1)	1						c.(631-633)TTC>TTG		Ras-like without CAAX 1							259.0	266.0	264.0					1																	155870206		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870206G>C	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.633C>G	1.37:g.155870206G>C	ENSP00000357306:p.Phe211Leu					RIT1_uc010pgr.1_Missense_Mutation_p.F175L	p.F211L	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		6	820	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		211					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.633C>G	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251973	0.39797	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.65549	-0.15;0.27;-0.16	5.13	4.22	0.49857	.	0.154615	0.45606	D	0.000355	T	0.20780	0.0500	N	0.08118	0	0.58432	D	0.999997	B	0.09022	0.002	B	0.09377	0.004	T	0.08932	-1.0698	10	0.31617	T	0.26	.	7.9966	0.30271	0.2444:0.0:0.7556:0.0	.	211	Q92963	RIT1_HUMAN	L	211;175;228	ENSP00000357306:F211L;ENSP00000441950:F175L;ENSP00000357305:F228L	ENSP00000357305:F228L	F	-	3	2	RIT1	154136830	0.982000	0.34865	1.000000	0.80357	0.991000	0.79684	0.272000	0.18644	1.394000	0.46624	0.591000	0.81541	TTC		0.423	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912	
IQGAP3	128239	broad.mit.edu	37	1	156503843	156503843	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:156503843G>A	ENST00000361170.2	-	30	3841	c.3831C>T	c.(3829-3831)ccC>ccT	p.P1277P		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1277					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTACACCATGGGTTTGGCCA	0.592																																						uc001fpf.2																			0				ovary(5)|skin(1)	6						c.(3829-3831)CCC>CCT		IQ motif containing GTPase activating protein 3							133.0	112.0	119.0					1																	156503843		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156503843G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3831C>T	1.37:g.156503843G>A							p.P1277P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			30	3906	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1277					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.3831C>T	CCDS1144.1																																																																																				0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
SLAMF1	6504	broad.mit.edu	37	1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	rs374126308		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:160607074G>A	ENST00000302035.6	-	2	671	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	108	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468																																						uc001fwl.3																			0				ovary(1)|breast(1)	2						c.(322-324)CGG>TGG		signaling lymphocytic activation molecule family		G	TRP/ARG	0,4406		0,0,2203	127.0	123.0	124.0		322	1.2	0.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/336	160607074	1,13005	2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607074G>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.322C>T	1.37:g.160607074G>A	ENSP00000306190:p.Arg108Trp					SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.R108W	p.R108W	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	668	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		108			Extracellular (Potential).		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.322C>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317495	0.23908	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.19	1.19	0.21007	Signaling lymphocytic activation molecule, N-terminal (2);	1.152020	0.06391	N	0.717075	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.994;0.998	P;P	0.51615	0.675;0.615	T	0.11916	-1.0568	10	0.52906	T	0.07	-0.043	5.5763	0.17225	0.3728:0.0:0.6272:0.0	.	108;108	B4E2E4;Q13291	.;SLAF1_HUMAN	W	108	ENSP00000306190:R108W;ENSP00000235739:R108W;ENSP00000438406:R108W;ENSP00000347333:R108W	ENSP00000235739:R108W	R	-	1	2	SLAMF1	158873698	0.882000	0.30256	0.004000	0.12327	0.023000	0.10783	1.244000	0.32778	0.270000	0.21984	0.491000	0.48974	CGG		0.468	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1		
MYO3A	53904	broad.mit.edu	37	10	26305807	26305807	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:26305807G>A	ENST00000265944.5	+	7	733	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_ENST00000376301.1_Silent_p.P189P|MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TAGGAACACCGTTTTGGATGG	0.448																																						uc001isn.2																			0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(565-567)CCG>CCA		myosin IIIA							113.0	106.0	109.0					10																	26305807		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:26305807G>A	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.567G>A	10.37:g.26305807G>A						MYO3A_uc009xko.1_Silent_p.P189P|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.P189P|MYO3A_uc001ism.2_Silent_p.P189P	p.P189P	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			7	927	+			189			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.567G>A	CCDS7148.1																																																																																				0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
PTEN	5728	broad.mit.edu	37	10	89653833	89653833	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:89653833G>A	ENST00000371953.3	+	2	1488	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	44	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.G44D(2)|p.G44fs*8(1)|p.G44fs*11(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)		AGACTTGAAGGCGTATACAGG	0.294		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)|Unknown(8)|Deletion - Frameshift(3)|Substitution - Missense(2)|Complex - frameshift(1)	p.?(4)|p.G44G(3)|p.Y27fs*1(2)|p.G44D(2)|p.Y27_N212>Y(2)|p.G44fs*8(1)|p.G44fs*11(1)	prostate(15)|central_nervous_system(9)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|vulva(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(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	GRCh37	CM090865	PTEN	M		c.(130-132)GGC>GAC		phosphatase and tensin homolog							114.0	114.0	114.0					10																	89653833		2203	4295	6498	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.chr10:89653833G>A	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.131G>A	10.37:g.89653833G>A	ENSP00000361021:p.Gly44Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G44D	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)	3	1162	+		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)	44			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.131G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094643	0.94149	.	.	ENSG00000171862	ENST00000371953	D	0.98531	-4.98	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.99497	1.0952	9	.	.	.	-6.4843	17.4682	0.87639	0.0:0.0:1.0:0.0	.	44	P60484	PTEN_HUMAN	D	44	ENSP00000361021:G44D	.	G	+	2	0	PTEN	89643813	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.214000	0.77958	2.421000	0.82119	0.655000	0.94253	GGC		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
NLRP6	171389	broad.mit.edu	37	11	285212	285212	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:285212G>T	ENST00000312165.5	+	8	2587	c.2587G>T	c.(2587-2589)Gct>Tct	p.A863S	NLRP6_ENST00000534750.1_Missense_Mutation_p.A862S|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	863					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGAGCTTCAGGCTGTGAAGAG	0.617																																						uc010qvs.1																			0				upper_aerodigestive_tract(1)|skin(1)	2						c.(2587-2589)GCT>TCT		NLR family, pyrin domain containing 6							72.0	59.0	63.0					11																	285212		2202	4298	6500	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:285212G>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2587G>T	11.37:g.285212G>T	ENSP00000309767:p.Ala863Ser					NLRP6_uc010qvt.1_Missense_Mutation_p.A862S	p.A863S	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	8	2587	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	863			LRR 5.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2587G>T	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.646042	0.00111	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.73363	-0.74;-0.73	2.17	2.17	0.27698	.	.	.	.	.	T	0.52565	0.1742	N	0.24115	0.695	0.09310	N	1	B;B	0.16603	0.001;0.018	B;B	0.17098	0.003;0.017	T	0.42085	-0.9472	9	0.02654	T	1	.	6.8178	0.23841	0.0:0.2941:0.7059:0.0	.	862;863	E9PJZ8;P59044	.;NALP6_HUMAN	S	862;863	ENSP00000433617:A862S;ENSP00000309767:A863S	ENSP00000309767:A863S	A	+	1	0	NLRP6	275212	0.013000	0.17824	0.005000	0.12908	0.072000	0.16883	1.862000	0.39448	1.531000	0.49152	0.558000	0.71614	GCT		0.617	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329	
OR51A2	401667	broad.mit.edu	37	11	4976634	4976634	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:4976634A>T	ENST00000380371.1	-	1	309	c.310T>A	c.(310-312)Ttc>Atc	p.F104I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAATGAAGAATTCCTGGGCA	0.448																																						uc010qyt.1																			0					0						c.(310-312)TTC>ATC		olfactory receptor, family 51, subfamily A,							111.0	87.0	96.0					11																	4976634		1906	3427	5333	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976634A>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.310T>A	11.37:g.4976634A>T	ENSP00000369729:p.Phe104Ile						p.F104I	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	310	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	104			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000380371.1	37	c.310T>A	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	14.79	2.639105	0.47153	.	.	ENSG00000205496	ENST00000380371	T	0.05925	3.37	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31513	0.0799	M	0.93939	3.475	0.19300	N	0.999976	D	0.89917	1.0	D	0.78314	0.991	T	0.09530	-1.0670	9	0.87932	D	0	.	10.3385	0.43864	1.0:0.0:0.0:0.0	.	104	Q8NGJ7	O51A2_HUMAN	I	104	ENSP00000369729:F104I	ENSP00000369729:F104I	F	-	1	0	OR51A2	4933210	0.500000	0.26091	0.055000	0.19348	0.396000	0.30629	5.645000	0.67909	1.345000	0.45676	0.325000	0.21440	TTC		0.448	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
OR52E2	119678	broad.mit.edu	37	11	5080295	5080295	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:5080295T>C	ENST00000321522.2	-	1	562	c.563A>G	c.(562-564)cAt>cGt	p.H188R		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACAAGATAGATGAGCAAGACC	0.388																																						uc010qyw.1																			0				ovary(2)|skin(1)	3						c.(562-564)CAT>CGT		olfactory receptor, family 52, subfamily E,							92.0	83.0	86.0					11																	5080295		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080295T>C	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.563A>G	11.37:g.5080295T>C	ENSP00000322088:p.His188Arg						p.H188R	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	563	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	188			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.563A>G	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.909637	0.00056	.	.	ENSG00000176787	ENST00000321522	T	0.00051	8.81	3.76	0.692	0.18050	GPCR, rhodopsin-like superfamily (1);	0.118232	0.38436	N	0.001686	T	0.00039	0.0001	N	0.00061	-2.33	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33394	-0.9870	10	0.07175	T	0.84	.	7.1981	0.25864	0.0:0.6067:0.0:0.3933	.	188	Q8NGJ4	O52E2_HUMAN	R	188	ENSP00000322088:H188R	ENSP00000322088:H188R	H	-	2	0	OR52E2	5036871	0.000000	0.05858	0.002000	0.10522	0.333000	0.28666	-1.002000	0.03686	0.211000	0.20683	-0.188000	0.12872	CAT		0.388	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164	
PAX6	5080	broad.mit.edu	37	11	31824337	31824337	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:31824337C>A	ENST00000379132.3	-	4	336	c.56G>T	c.(55-57)cGg>cTg	p.R19L	PAX6_ENST00000379111.2_Missense_Mutation_p.R19L|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379115.4_Missense_Mutation_p.R19L|PAX6_ENST00000379107.2_Missense_Mutation_p.R19L|PAX6_ENST00000419022.1_Missense_Mutation_p.R19L|PAX6_ENST00000379123.5_Missense_Mutation_p.R19L|PAX6_ENST00000241001.8_Missense_Mutation_p.R19L|PAX6_ENST00000379129.2_Missense_Mutation_p.R19L			P26367	PAX6_HUMAN	paired box 6	19	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		R -> P (in AN). {ECO:0000269|PubMed:12634864}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CGGCAGTGGCCGCCCGTTGAC	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc001mtd.3																			0				lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	GRCh37	CM030485	PAX6	M		c.(55-57)CGG>CTG		paired box gene 6 isoform a							28.0	30.0	29.0					11																	31824337		2202	4299	6501	SO:0001583	missense	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31824337C>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.56G>T	11.37:g.31824337C>A	ENSP00000368427:p.Arg19Leu					PAX6_uc001mte.3_Missense_Mutation_p.R19L|PAX6_uc001mtg.3_Missense_Mutation_p.R19L|PAX6_uc001mtf.3_Missense_Mutation_p.R19L|PAX6_uc001mth.3_Missense_Mutation_p.R19L|PAX6_uc009yjr.2_Missense_Mutation_p.R19L	p.R19L	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			4	946	-	Lung SC(675;0.225)		19		R -> P (in AN).	Paired.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.56G>T	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.469603	0.84533	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000455099;ENST00000524853;ENST00000423822;ENST00000438681	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33	4.48	3.57	0.40892	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.053822	0.64402	D	0.000001	D	0.99629	0.9864	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98119	1.0424	10	0.87932	D	0	.	12.2829	0.54774	0.0:0.9172:0.0:0.0828	.	19;19	F1T0F8;P26367	.;PAX6_HUMAN	L	19	ENSP00000404100:R19L;ENSP00000368427:R19L;ENSP00000368424:R19L;ENSP00000368401:R19L;ENSP00000241001:R19L;ENSP00000368410:R19L;ENSP00000368406:R19L;ENSP00000368418:R19L;ENSP00000368403:R19L;ENSP00000397384:R19L;ENSP00000431585:R19L;ENSP00000388132:R19L;ENSP00000404356:R19L	ENSP00000241001:R19L	R	-	2	0	PAX6	31780913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.457000	0.80775	1.105000	0.41606	0.450000	0.29827	CGG		0.592	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	
OR4D6	219983	broad.mit.edu	37	11	59224437	59224437	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:59224437G>T	ENST00000300127.2	+	1	27	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCCCATCATGGACCAGATCAA	0.423																																						uc010rku.1																			0				ovary(1)	1						c.(4-6)GAC>TAC		olfactory receptor, family 4, subfamily D,							224.0	206.0	212.0					11																	59224437		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224437G>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.4G>T	11.37:g.59224437G>T	ENSP00000300127:p.Asp2Tyr						p.D2Y	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	4	+			2			Extracellular (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.4G>T	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	3.860	-0.030127	0.07543	.	.	ENSG00000166884	ENST00000300127	T	0.03124	4.04	5.75	-1.91	0.07641	.	0.919547	0.09179	N	0.837773	T	0.04907	0.0132	L	0.39397	1.21	0.09310	N	0.999997	B	0.23128	0.08	B	0.32022	0.139	T	0.44742	-0.9308	10	0.66056	D	0.02	0.1327	10.4504	0.44518	0.4833:0.0:0.5167:0.0	.	2	Q8NGJ1	OR4D6_HUMAN	Y	2	ENSP00000300127:D2Y	ENSP00000300127:D2Y	D	+	1	0	OR4D6	58981013	0.050000	0.20438	0.010000	0.14722	0.025000	0.11179	0.210000	0.17455	-0.387000	0.07809	-0.982000	0.02568	GAC		0.423	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708	
MS4A8	83661	broad.mit.edu	37	11	60470943	60470943	+	Silent	SNP	C	C	T	rs144254483		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60470943C>T	ENST00000300226.2	+	3	515	c.312C>T	c.(310-312)taC>taT	p.Y104Y		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	104						integral component of membrane (GO:0016021)		p.Y104*(1)									TTTCATTCTACGGAGGCTTTC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		15865	0.001		0.0	False		,,,				2504	0.0					uc001npv.2																			1	Substitution - Nonsense(1)		ovary(1)		0						c.(310-312)TAC>TAT		membrane-spanning 4-domains, subfamily A, member		C		2,4404	4.2+/-10.8	0,2,2201	145.0	137.0	140.0		312	-6.5	0.6	11	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	MS4A8B	NM_031457.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		104/251	60470943	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83661					integral to membrane	receptor activity	g.chr11:60470943C>T	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.312C>T	11.37:g.60470943C>T						MS4A8B_uc009yne.1_Silent_p.Y104Y	p.Y104Y	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			3	515	+			104			Helical; (Potential).		Q8TCA5	Silent	SNP	ENST00000300226.2	37	c.312C>T	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	1.697	-0.502636	0.04261	4.54E-4	0.0	ENSG00000166959	ENST00000525458	.	.	.	3.62	-6.53	0.01866	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.23309	N	0.997935	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	-1.3113	2.3175	0.04202	0.1341:0.2077:0.1332:0.5251	.	.	.	.	M	86	.	.	T	+	2	0	MS4A8B	60227519	0.000000	0.05858	0.626000	0.29213	0.263000	0.26337	-3.553000	0.00433	-0.913000	0.03832	0.491000	0.48974	ACG		0.567	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		
CD6	923	broad.mit.edu	37	11	60739382	60739382	+	Silent	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60739382C>A	ENST00000313421.7	+	1	231	c.45C>A	c.(43-45)ctC>ctA	p.L15L	CD6_ENST00000352009.5_Silent_p.L15L|CD6_ENST00000452451.2_Silent_p.L15L|CD6_ENST00000346437.4_Silent_p.L15L|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000344028.5_Silent_p.L15L	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	15					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CGGCAGCCCTCTCAGGTAGGC	0.602																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2																			0				pancreas(1)	1						c.(43-45)CTC>CTA		CD6 molecule precursor							59.0	52.0	54.0					11																	60739382		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60739382C>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.45C>A	11.37:g.60739382C>A						CD6_uc009yni.2_Silent_p.L15L|CD6_uc009ynj.2_Silent_p.L15L|CD6_uc001nqp.2_Silent_p.L15L|CD6_uc001nqr.2_Silent_p.L15L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.L15L	p.L15L	NM_006725	NP_006716	P30203	CD6_HUMAN			1	268	+			15					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.45C>A	CCDS7999.1																																																																																				0.602	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725	
DDB1	1642	broad.mit.edu	37	11	61079499	61079499	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:61079499C>G	ENST00000301764.7	-	17	2524	c.2127G>C	c.(2125-2127)aaG>aaC	p.K709N	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	709	Interaction with CDT1.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATGTGCAGCTTCTGGATCT	0.547								Nucleotide excision repair (NER)																														uc001nrc.3																			0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2125-2127)AAG>AAC	NER	damage-specific DNA binding protein 1							188.0	176.0	180.0					11																	61079499		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61079499C>G	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2127G>C	11.37:g.61079499C>G	ENSP00000301764:p.Lys709Asn					DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.K709N	p.K709N	NM_001923	NP_001914	Q16531	DDB1_HUMAN			17	2353	-			709			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2127G>C	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865034	0.71949	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.30981	1.51;1.51	5.9	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.54470	-0.8289	10	0.33141	T	0.24	-31.5146	10.4564	0.44553	0.0:0.7369:0.0:0.2631	.	709	Q16531	DDB1_HUMAN	N	709;176	ENSP00000301764:K709N;ENSP00000444650:K176N	ENSP00000301764:K709N	K	-	3	2	DDB1	60836075	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.374000	0.20501	0.385000	0.24970	0.591000	0.81541	AAG		0.547	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
NPAS4	266743	broad.mit.edu	37	11	66190325	66190325	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:66190325G>A	ENST00000311034.2	+	4	787	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	204	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAGGTCCTGGCCCTGGCCCT	0.632																																						uc001ohx.1																			0					0						c.(610-612)GGC>GAC		neuronal PAS domain protein 4							52.0	55.0	54.0					11																	66190325		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190325G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.611G>A	11.37:g.66190325G>A	ENSP00000311196:p.Gly204Asp					NPAS4_uc010rpc.1_Missense_Mutation_p.A31T	p.G204D	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			4	787	+			204			PAS 2.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.611G>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355499	0.41700	.	.	ENSG00000174576	ENST00000311034	T	0.44482	0.92	5.49	4.54	0.55810	.	0.104187	0.43416	D	0.000575	T	0.22003	0.0530	N	0.08118	0	0.47308	D	0.999383	B	0.33073	0.396	B	0.29440	0.102	T	0.08743	-1.0707	10	0.34782	T	0.22	-7.7403	12.3851	0.55328	0.0:0.1683:0.8317:0.0	.	204	Q8IUM7	NPAS4_HUMAN	D	204	ENSP00000311196:G204D	ENSP00000311196:G204D	G	+	2	0	NPAS4	65946901	0.994000	0.37717	1.000000	0.80357	0.874000	0.50279	2.378000	0.44309	2.579000	0.87056	0.655000	0.94253	GGC		0.632	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
TENM4	26011	broad.mit.edu	37	11	78380034	78380034	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:78380034G>C	ENST00000278550.7	-	32	7818	c.7356C>G	c.(7354-7356)ttC>ttG	p.F2452L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2452					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTTGTTTTTGAACATATAGA	0.507																																						uc001ozl.3																			0				ovary(2)|pancreas(2)	4						c.(7354-7356)TTC>TTG		odz, odd Oz/ten-m homolog 4							154.0	150.0	151.0					11																	78380034		2001	4163	6164	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380034G>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7356C>G	11.37:g.78380034G>C	ENSP00000278550:p.Phe2452Leu					ODZ4_uc001ozk.3_Missense_Mutation_p.F677L|ODZ4_uc009yvb.1_Missense_Mutation_p.F1036L	p.F2452L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	7819	-			2452			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7356C>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772283	0.49680	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.91577	-2.87;0.35	5.14	-1.5	0.08691	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.83603	2.65	0.47737	D	0.999508	D	0.58268	0.982	D	0.67548	0.952	D	0.92444	0.5964	9	.	.	.	.	12.4904	0.55897	0.3274:0.0:0.6726:0.0	.	2452	Q6N022	TEN4_HUMAN	L	2452;916	ENSP00000278550:F2452L;ENSP00000431711:F916L	.	F	-	3	2	ODZ4	78057682	0.998000	0.40836	0.997000	0.53966	0.761000	0.43186	0.567000	0.23608	-0.109000	0.12044	-0.290000	0.09829	TTC		0.507	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
FOLH1B	219595	broad.mit.edu	37	11	89405127	89405127	+	RNA	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:89405127C>G	ENST00000532352.1	+	0	1067							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGTGGAGCAGCTGTTGTTCAT	0.418																																						uc001pda.2																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(253-255)GCT>GGT		folate hydrolase 1B							202.0	181.0	188.0					11																	89405127		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405127C>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405127C>G							p.A85G	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			5	780	+			85						Missense_Mutation	SNP	ENST00000532352.1	37	c.254C>G																																																																																					0.418	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
ERC1	23085	broad.mit.edu	37	12	1291107	1291107	+	Missense_Mutation	SNP	G	G	A	rs138512011	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:1291107G>A	ENST00000397203.2	+	10	2298	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	ERC1_ENST00000543086.3_Missense_Mutation_p.R603H|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.R631H|ERC1_ENST00000546231.2_Missense_Mutation_p.R631H|ERC1_ENST00000355446.5_Missense_Mutation_p.R631H|ERC1_ENST00000360905.4_Missense_Mutation_p.R631H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	631					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAATTGAACGCTTAAAGGAG	0.378																																						uc001qjb.2																			0				ovary(2)|lung(2)|breast(1)	5						c.(1891-1893)CGC>CAC		RAB6-interacting protein 2 isoform epsilon		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	63.0	63.0	63.0		1808,1892	4.2	1.0	12	dbSNP_134	63	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	ERC1	NM_178039.2,NM_178040.2	29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging,probably-damaging	603/1089,631/1117	1291107	5,13001	2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1291107G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1892G>A	12.37:g.1291107G>A	ENSP00000380386:p.Arg631His					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R603H|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R631H|ERC1_uc010sdv.1_Missense_Mutation_p.R379H|ERC1_uc009zdp.2_Missense_Mutation_p.R271H	p.R631H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		10	2133	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		631			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1892G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833820	0.71258	0.0	5.81E-4	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.1	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.41961	1.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73380	0.979;0.966;0.967;0.967;0.98	T	0.59899	-0.7367	10	0.51188	T	0.08	-3.1742	13.4965	0.61428	0.0756:0.0:0.9244:0.0	.	379;271;603;603;631	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	H	603;631;603;603;331;603;603;331;631;631;631;603;379;271	ENSP00000340054:R603H;ENSP00000380386:R631H;ENSP00000438546:R603H;ENSP00000442976:R331H;ENSP00000442739:R631H;ENSP00000347621:R631H;ENSP00000354158:R631H;ENSP00000410064:R603H	ENSP00000299183:R331H	R	+	2	0	ERC1	1161368	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.869000	0.99810	1.160000	0.42584	-0.136000	0.14681	CGC		0.378	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
FOXJ2	55810	broad.mit.edu	37	12	8192492	8192492	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:8192492G>A	ENST00000162391.3	+	2	1209	c.64G>A	c.(64-66)Gct>Act	p.A22T	FOXJ2_ENST00000428177.2_Missense_Mutation_p.A22T	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	22					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GACCCTCCGAGCTACCATTGA	0.582																																						uc001qtu.2																			0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(64-66)GCT>ACT		forkhead box J2							75.0	78.0	77.0					12																	8192492		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8192492G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.64G>A	12.37:g.8192492G>A	ENSP00000162391:p.Ala22Thr					FOXJ2_uc001qtt.1_Missense_Mutation_p.A22T	p.A22T	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	2	1149	+			22					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.64G>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	g	32	5.136057	0.94517	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95171	-3.43;-3.63	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000008	D	0.95092	0.8410	L	0.29908	0.895	0.53688	D	0.999976	D;D	0.71674	0.993;0.998	D;D	0.81914	0.984;0.995	D	0.95778	0.8814	10	0.66056	D	0.02	.	15.9746	0.80054	0.0:0.0:1.0:0.0	.	22;22	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	T	22	ENSP00000162391:A22T;ENSP00000403411:A22T	ENSP00000162391:A22T	A	+	1	0	FOXJ2	8083759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.705000	0.84606	2.363000	0.80096	0.555000	0.69702	GCT		0.582	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416	
KIAA1551	55196	broad.mit.edu	37	12	32138039	32138039	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:32138039G>C	ENST00000312561.4	+	4	4564	c.4150G>C	c.(4150-4152)Gat>Cat	p.D1384H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1384																	GAACGTATTAGATATGGAAGT	0.343																																						uc001rks.2																			0				ovary(1)|skin(1)	2						c.(4150-4152)GAT>CAT		hypothetical protein LOC55196							65.0	67.0	67.0					12																	32138039		2200	4298	6498	SO:0001583	missense	55196							g.chr12:32138039G>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4150G>C	12.37:g.32138039G>C	ENSP00000310338:p.Asp1384His					C12orf35_uc001rkt.2_5'Flank	p.D1384H	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4564	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1384					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4150G>C	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601486	0.46423	.	.	ENSG00000174718	ENST00000312561	T	0.14022	2.54	4.86	3.95	0.45737	.	0.724252	0.12801	N	0.437981	T	0.32556	0.0833	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.03524	-1.1028	9	.	.	.	.	12.0411	0.53454	0.0872:0.0:0.9128:0.0	.	1384	Q9HCM1	CL035_HUMAN	H	1384	ENSP00000310338:D1384H	.	D	+	1	0	C12orf35	32029306	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	0.428000	0.21395	2.386000	0.81285	0.563000	0.77884	GAT		0.343	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
LARP4	113251	broad.mit.edu	37	12	50831593	50831593	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:50831593G>A	ENST00000398473.2	+	6	723	c.611G>A	c.(610-612)aGa>aAa	p.R204K	LARP4_ENST00000518561.1_Missense_Mutation_p.R134K|LARP4_ENST00000522085.1_Missense_Mutation_p.R204K|LARP4_ENST00000518444.1_Missense_Mutation_p.R203K|LARP4_ENST00000347328.5_Missense_Mutation_p.R204K|LARP4_ENST00000293618.8_Missense_Mutation_p.R204K|LARP4_ENST00000429001.3_Missense_Mutation_p.R210K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	204	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTAATTCTTAGAGAGATTCCT	0.338																																						uc001rwp.1																			0				ovary(1)	1						c.(610-612)AGA>AAA		c-Mpl binding protein isoform a							79.0	71.0	74.0					12																	50831593		1816	4074	5890	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50831593G>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.611G>A	12.37:g.50831593G>A	ENSP00000381490:p.Arg204Lys					LARP4_uc001rwo.1_Missense_Mutation_p.R210K|LARP4_uc001rwq.1_Missense_Mutation_p.R204K|LARP4_uc001rwr.1_Missense_Mutation_p.R204K|LARP4_uc001rws.1_Missense_Mutation_p.R203K|LARP4_uc009zlr.1_Missense_Mutation_p.R23K|LARP4_uc001rwm.2_Missense_Mutation_p.R204K|LARP4_uc001rwn.2_Missense_Mutation_p.R134K	p.R204K	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			6	755	+			204			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.611G>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	36	5.773337	0.96922	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.86740	2.835	0.80722	D	1	D;D;D;P;P;D	0.67145	0.983;0.994;0.996;0.851;0.897;0.985	D;D;D;P;P;D	0.76071	0.95;0.919;0.987;0.493;0.638;0.919	T	0.71494	-0.4576	10	0.51188	T	0.08	.	18.6272	0.91344	0.0:0.0:1.0:0.0	.	105;203;204;204;204;210	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	K	204;210;204;134;204;204;203;134;105;204	ENSP00000293618:R204K;ENSP00000415464:R210K;ENSP00000381490:R204K;ENSP00000429781:R204K;ENSP00000429077:R203K;ENSP00000430851:R134K;ENSP00000340901:R204K	ENSP00000293618:R204K	R	+	2	0	LARP4	49117860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.650000	0.98490	2.399000	0.81585	0.561000	0.74099	AGA		0.338	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	
CFAP54	144535	broad.mit.edu	37	12	97052014	97052014	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:97052014C>A	ENST00000524981.4	+	38	5373	c.5350C>A	c.(5350-5352)Cca>Aca	p.P1784T				Q96N23	CL055_HUMAN		0																	ACAAGTGACACCACTTCTGGT	0.388																																						uc001tet.1																			0				skin(6)|ovary(1)	7						c.(625-627)CCA>ACA		hypothetical protein LOC374467							107.0	107.0	107.0					12																	97052014		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97052014C>A																												ENST00000524981.4:c.5350C>A	12.37:g.97052014C>A	ENSP00000431759:p.Pro1784Thr						p.P209T	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			5	703	+			209						Missense_Mutation	SNP	ENST00000524981.4	37	c.625C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.130385	0.77549	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000020	T	0.79522	0.4460	M	0.70275	2.135	0.43835	D	0.996413	D	0.89917	1.0	D	0.97110	1.0	T	0.81531	-0.0890	9	0.87932	D	0	-15.3063	19.0711	0.93136	0.0:1.0:0.0:0.0	.	209	Q6ZTY8	CL063_HUMAN	T	1784;209	.	ENSP00000345466:P209T	P	+	1	0	C12orf63	95576145	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	5.269000	0.65542	2.581000	0.87130	0.462000	0.41574	CCA		0.388	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		
CHD8	57680	broad.mit.edu	37	14	21876716	21876716	+	Splice_Site	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:21876716T>C	ENST00000557364.1	-	13	2750		c.e13-2		CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000399982.2_Splice_Site|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGTTCTGCCTGCAGATTCAC	0.353																																						uc001was.1																			0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.e13-1		chromodomain helicase DNA binding protein 8							45.0	42.0	43.0					14																	21876716		1877	4099	5976	SO:0001630	splice_region_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21876716T>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2487-2A>G	14.37:g.21876716T>C						CHD8_uc001war.1_Splice_Site_p.R446_splice|CHD8_uc001wav.1_Splice_Site	p.R550_splice	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	13	1744	-	all_cancers(95;0.00121)							Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Splice_Site	SNP	ENST00000557364.1	37	c.1650_splice	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644207	0.67244	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000555935	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7202	0.69300	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD8	20946556	1.000000	0.71417	0.986000	0.45419	0.852000	0.48524	7.868000	0.87116	2.299000	0.77371	0.528000	0.53228	.		0.353	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	Intron
LRRC16B	90668	broad.mit.edu	37	14	24538046	24538046	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:24538046A>G	ENST00000342740.5	+	38	4007	c.3853A>G	c.(3853-3855)Agg>Ggg	p.R1285G	CPNE6_ENST00000537691.1_5'Flank|LRRC16B_ENST00000334420.7_Missense_Mutation_p.R338G|CPNE6_ENST00000397016.2_5'Flank|CPNE6_ENST00000216775.2_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1285						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCTGTGCCCAGGGGCCGCCA	0.637																																						uc001wlj.2																			0				ovary(2)|breast(2)|pancreas(1)	5						c.(3853-3855)AGG>GGG		leucine rich repeat containing 16B							18.0	20.0	19.0					14																	24538046		2203	4293	6496	SO:0001583	missense	90668							g.chr14:24538046A>G	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3853A>G	14.37:g.24538046A>G	ENSP00000340467:p.Arg1285Gly					LRRC16B_uc001wlk.2_Missense_Mutation_p.R338G|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	p.R1285G	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	38	4010	+			1285					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3853A>G	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.737901	0.49045	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.60040	0.22;0.22	4.2	1.72	0.24424	.	0.000000	0.42682	D	0.000665	T	0.56202	0.1969	N	0.19112	0.55	0.26690	N	0.971378	D;D	0.57899	0.981;0.981	D;D	0.69824	0.943;0.966	T	0.46707	-0.9172	10	0.62326	D	0.03	-10.25	8.0616	0.30635	0.548:0.452:0.0:0.0	.	338;1285	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	G	1285;338	ENSP00000340467:R1285G;ENSP00000334701:R338G	ENSP00000334701:R338G	R	+	1	2	LRRC16B	23607886	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.798000	0.38814	0.650000	0.30769	0.459000	0.35465	AGG		0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
CEP170B	283638	broad.mit.edu	37	14	105353636	105353636	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:105353636G>A	ENST00000414716.3	+	12	3288	c.3060G>A	c.(3058-3060)atG>atA	p.M1020I	CEP170B_ENST00000556508.1_Missense_Mutation_p.M950I|CEP170B_ENST00000453495.1_Missense_Mutation_p.M1021I|CEP170B_ENST00000418279.1_Missense_Mutation_p.M950I	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1020						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGACGGACATGGGCCGTGGAG	0.701																																						uc010axb.2																			0				breast(1)	1						c.(3058-3060)ATG>ATA		hypothetical protein LOC283638 isoform 1							10.0	14.0	13.0					14																	105353636		2026	4162	6188	SO:0001583	missense	283638					cytoplasm|microtubule		g.chr14:105353636G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3060G>A	14.37:g.105353636G>A	ENSP00000404151:p.Met1020Ile					INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.M950I|KIAA0284_uc001yps.2_Missense_Mutation_p.M926I|KIAA0284_uc001ypt.2_5'Flank	p.M1020I	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	12	3284	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1020					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3060G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	0.301	-0.973692	0.02215	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.39787	1.06;1.07;1.06;1.07	3.42	-6.33	0.01988	.	3.286300	0.01239	N	0.008569	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.0	T	0.20840	-1.0263	10	0.07990	T	0.79	-0.5147	0.8866	0.01246	0.3493:0.2824:0.1781:0.1901	.	1020;1020;950	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	I	950;1020;1021;950	ENSP00000451249:M950I;ENSP00000404151:M1020I;ENSP00000407238:M1021I;ENSP00000415006:M950I	ENSP00000404151:M1020I	M	+	3	0	KIAA0284	104424681	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.543000	0.00934	-1.758000	0.01315	-0.658000	0.03865	ATG		0.701	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
UNKL	64718	broad.mit.edu	37	16	1417320	1417320	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:1417320C>T	ENST00000389221.4	-	14	1809	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	UNKL_ENST00000248104.7_Missense_Mutation_p.E103K|UNKL_ENST00000402641.2_Missense_Mutation_p.E106K|UNKL_ENST00000391893.2_Missense_Mutation_p.E103K|UNKL_ENST00000508903.2_Missense_Mutation_p.E607K|UNKL_ENST00000403703.1_Missense_Mutation_p.E106K|UNKL_ENST00000397464.1_Missense_Mutation_p.E106K	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	604					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCCTTGGCCTCCTGCGCCTCT	0.667																																						uc010brn.1																			0					0						c.(940-942)GAG>AAG		SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;							13.0	11.0	12.0					16																	1417320		2156	4220	6376	SO:0001583	missense	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1417320C>T	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1810G>A	16.37:g.1417320C>T	ENSP00000373873:p.Glu604Lys					UNKL_uc002cln.2_Missense_Mutation_p.E106K|UNKL_uc002clo.2_Missense_Mutation_p.E103K|UNKL_uc002clp.2_Missense_Mutation_p.E106K	p.E314K			Q9H9P5	UNKL_HUMAN			8	958	-		Hepatocellular(780;0.0893)	604			Potential.		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	c.940G>A	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.204757	0.79127	.	.	ENSG00000059145	ENST00000248104;ENST00000389221;ENST00000403703;ENST00000391893;ENST00000397464;ENST00000402641;ENST00000508903	T;T;T;T;T;T	0.78126	-1.15;-0.23;-1.15;-1.15;-0.3;-1.15	5.02	5.02	0.67125	.	.	.	.	.	D	0.88217	0.6377	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.997	P;D;D	0.91635	0.815;0.999;0.98	D	0.89117	0.3500	9	0.54805	T	0.06	.	16.0353	0.80625	0.0:1.0:0.0:0.0	.	604;103;607	Q9H9P5;Q9H9P5-3;E9PDK2	UNKL_HUMAN;.;.	K	103;604;106;103;106;106;607	ENSP00000248104:E103K;ENSP00000373873:E604K;ENSP00000385895:E106K;ENSP00000375763:E103K;ENSP00000380606:E106K;ENSP00000384850:E106K	ENSP00000248104:E103K	E	-	1	0	UNKL	1357321	1.000000	0.71417	0.996000	0.52242	0.224000	0.24922	7.464000	0.80887	2.386000	0.81285	0.437000	0.28790	GAG		0.667	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125	
ABCA3	21	broad.mit.edu	37	16	2369841	2369841	+	Splice_Site	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:2369841C>T	ENST00000301732.5	-	8	1314	c.614G>A	c.(613-615)gGg>gAg	p.G205E	ABCA3_ENST00000382381.3_Splice_Site_p.G205E	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	205					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCGGATGTACCCTGGGTGCGG	0.657																																						uc002cpy.1																			0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(613-615)GGG>GAG		ATP-binding cassette, sub-family A member 3							66.0	58.0	61.0					16																	2369841		2198	4300	6498	SO:0001630	splice_region_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369841C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.614-1G>A	16.37:g.2369841C>T						ABCA3_uc010bsk.1_Missense_Mutation_p.G205E|ABCA3_uc010bsl.1_Missense_Mutation_p.G205E	p.G205E	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			8	1326	-		Ovarian(90;0.17)	205					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.614G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698911	0.68501	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.98684	-5.07	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	M	0.85299	2.745	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.87578	0.99;0.985;0.998	D	0.99482	1.0948	10	0.87932	D	0	.	17.1158	0.86688	0.0:1.0:0.0:0.0	.	205;267;205	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	E	205;267	ENSP00000301732:G205E	ENSP00000301732:G205E	G	-	2	0	ABCA3	2309842	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	7.365000	0.79537	2.614000	0.88457	0.655000	0.94253	GGG		0.657	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Missense_Mutation
GRIN2A	2903	broad.mit.edu	37	16	10274212	10274212	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:10274212G>A	ENST00000396573.2	-	3	366	c.57C>T	c.(55-57)cgC>cgT	p.R19R	GRIN2A_ENST00000330684.3_Silent_p.R19R|GRIN2A_ENST00000396575.2_Silent_p.R19R|GRIN2A_ENST00000562109.1_Silent_p.R19R|GRIN2A_ENST00000404927.2_Silent_p.R19R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	19					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCGCCGGACCGCGCCAGACCA	0.657																																						uc002czo.3																			0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(55-57)CGC>CGT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						15.0	18.0	17.0					16																	10274212		2183	4278	6461	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274212G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.57C>T	16.37:g.10274212G>A						GRIN2A_uc010uym.1_Silent_p.R19R|GRIN2A_uc002czr.3_Silent_p.R19R|GRIN2A_uc010buk.2_Silent_p.R19R	p.R19R	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			2	605	-			19					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.57C>T	CCDS10539.1																																																																																				0.657	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GGA2	23062	broad.mit.edu	37	16	23505700	23505700	+	Splice_Site	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:23505700C>T	ENST00000309859.4	-	3	259		c.e3-1		GGA2_ENST00000567468.1_Splice_Site	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ATGTGTGGGGCTACAGGGAAA	0.522																																						uc002dlq.2																			0				ovary(1)|central_nervous_system(1)	2						c.e3-1		ADP-ribosylation factor binding protein 2							91.0	85.0	87.0					16																	23505700		2197	4300	6497	SO:0001630	splice_region_variant	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23505700C>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.177-1G>A	16.37:g.23505700C>T						GGA2_uc010bxo.1_Splice_Site	p.G59_splice	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	3	253	-								D3DWF0|O14564|Q9NYN2|Q9UPS2	Splice_Site	SNP	ENST00000309859.4	37	c.177_splice	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476562	0.84640	.	.	ENSG00000103365	ENST00000309859	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5187	0.84308	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGA2	23413201	1.000000	0.71417	0.845000	0.33349	0.735000	0.41995	3.242000	0.51384	2.494000	0.84150	0.551000	0.68910	.		0.522	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		Intron
CETP	1071	broad.mit.edu	37	16	57017290	57017290	+	Silent	SNP	C	C	T	rs544041690		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57017290C>T	ENST00000566128.1	+	15	1446	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	CETP_ENST00000200676.3_Silent_p.F458F|CETP_ENST00000379780.2_Silent_p.F398F					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGAGCCTCTTCGACATCATCA	0.592													c|||	1	0.000199681	0.0	0.0	5008	,	,		19457	0.0		0.0	False		,,,				2504	0.001					uc002eki.2																			0				central_nervous_system(1)|skin(1)	2						c.(1372-1374)TTC>TTT		cholesteryl ester transfer protein, plasma							106.0	97.0	100.0					16																	57017290		2198	4300	6498	SO:0001819	synonymous_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57017290C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1179C>T	16.37:g.57017290C>T						CETP_uc002ekj.2_Silent_p.F398F	p.F458F	NM_000078	NP_000069	P11597	CETP_HUMAN			15	1431	+			458						Silent	SNP	ENST00000566128.1	37	c.1374C>T																																																																																					0.592	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078	
GPR114	221188	broad.mit.edu	37	16	57609404	57609404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57609404C>T	ENST00000340339.4	+	12	2064	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	GPR114_ENST00000349457.3_Missense_Mutation_p.A514V|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	514					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAGCAGAGGCCAAGGCACAG	0.612																																						uc002elx.3																			0				central_nervous_system(1)	1						c.(1540-1542)GCC>GTC		G protein-coupled receptor 114 precursor							71.0	63.0	66.0					16																	57609404		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57609404C>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1541C>T	16.37:g.57609404C>T	ENSP00000342981:p.Ala514Val					GPR114_uc010vhr.1_3'UTR|GPR114_uc002ely.2_Missense_Mutation_p.A514V	p.A514V	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			12	1626	+			514			Cytoplasmic (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.1541C>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408178	0.42715	.	.	ENSG00000159618	ENST00000340339	T	0.29655	1.56	4.41	-0.198	0.13224	.	.	.	.	.	T	0.17109	0.0411	L	0.27053	0.805	0.09310	N	1	B	0.17667	0.023	B	0.21151	0.033	T	0.31724	-0.9933	9	0.19590	T	0.45	.	4.6761	0.12712	0.0:0.5588:0.1589:0.2824	.	514	Q8IZF4	GP114_HUMAN	V	514	ENSP00000342981:A514V	ENSP00000342981:A514V	A	+	2	0	GPR114	56166905	0.000000	0.05858	0.018000	0.16275	0.238000	0.25445	-0.789000	0.04609	0.095000	0.17434	0.491000	0.48974	GCC		0.612	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837	
SPDYE4	388333	broad.mit.edu	37	17	8658884	8658884	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8658884C>T	ENST00000328794.6	-	4	615	c.439G>A	c.(439-441)Ggc>Agc	p.G147S		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	147										breast(1)|endometrium(2)|kidney(1)	4						GAGAAGAGGCCGGCACGGCTA	0.493																																						uc010cnz.1																			0					0						c.(439-441)GGC>AGC		speedy homolog E4							94.0	79.0	84.0					17																	8658884		692	1591	2283	SO:0001583	missense	388333							g.chr17:8658884C>T	BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"""Speedy homologs"""	35463	protein-coding gene	gene with protein product			"""speedy homolog E4 (Xenopus laevis)"""				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.439G>A	17.37:g.8658884C>T	ENSP00000329522:p.Gly147Ser						p.G147S	NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN			4	616	-			147					B2RUZ6	Missense_Mutation	SNP	ENST00000328794.6	37	c.439G>A	CCDS45609.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465709	0.26335	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.86	2.86	0.33363	.	0.000000	0.64402	D	0.000009	T	0.44829	0.1312	L	0.46885	1.475	0.37831	D	0.928728	P	0.45986	0.87	B	0.43478	0.421	T	0.49062	-0.8978	9	0.37606	T	0.19	.	9.2678	0.37652	0.0:1.0:0.0:0.0	.	147	A6NLX3	SPDE4_HUMAN	S	147	.	ENSP00000329522:G147S	G	-	1	0	SPDYE4	8599609	0.007000	0.16637	0.829000	0.32907	0.008000	0.06430	0.860000	0.27871	1.601000	0.50113	0.411000	0.27672	GGC		0.493	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076	
PIK3R5	23533	broad.mit.edu	37	17	8784088	8784088	+	Silent	SNP	C	C	T	rs141893152		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8784088C>T	ENST00000447110.1	-	19	2635	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	PIK3R5_ENST00000584803.1_Silent_p.P836P|PIK3R5_ENST00000581552.1_Silent_p.P837P	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	837					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCTTGTAGCACGGTGAGACCT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17327	0.0		0.0	False		,,,				2504	0.0				NSCLC(18;589 615 7696 20311 50332)	uc002glt.2																			0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2509-2511)CCG>CCA		phosphoinositide-3-kinase, regulatory subunit 5		C	,	4,4402	8.1+/-20.4	0,4,2199	94.0	79.0	84.0		2511,2511	-6.2	1.0	17	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PIK3R5	NM_001142633.1,NM_014308.3	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	837/881,837/881	8784088	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8784088C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2511G>A	17.37:g.8784088C>T						PIK3R5_uc010vuz.1_Silent_p.P837P|PIK3R5_uc002glu.3_Silent_p.P451P	p.P837P	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			19	2578	-			837					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.2511G>A	CCDS11147.1																																																																																				0.647	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	
KCNJ12	3768	broad.mit.edu	37	17	21318735	21318735	+	Silent	SNP	C	C	T	rs371425635		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:21318735C>T	ENST00000583088.1	+	3	976	c.81C>T	c.(79-81)ggC>ggT	p.G27G	KCNJ12_ENST00000331718.5_Silent_p.G27G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	27					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCATGTCGGGCGCCAACGGCT	0.657										Prostate(3;0.18)																												uc002gyv.1																			0				ovary(3)|skin(1)	4						c.(79-81)GGC>GGT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)	C		0,4406		0,0,2203	76.0	66.0	70.0		81	-10.7	0.0	17		70	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous	KCNJ12	NM_021012.4		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		27/434	21318735	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318735C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.81C>T	17.37:g.21318735C>T		Prostate(3;0.18)					p.G27G	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	786	+			27			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.81C>T	CCDS11219.1																																																																																				0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
CCL14	6358	broad.mit.edu	37	17	34313606	34313606	+	Splice_Site	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:34313606C>A	ENST00000394509.4	-	1	188		c.e1+1		CCL14_ENST00000536149.1_Splice_Site|CCL14_ENST00000435911.2_Splice_Site|CTB-186H2.3_ENST00000591669.1_Missense_Mutation_p.R18S|CCL14_ENST00000480944.2_5'UTR|CCL15-CCL14_ENST00000481427.2_Splice_Site|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000586216.1_Splice_Site			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14						cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGCACTCACGTGAGGAGGA	0.557																																						uc010wcs.1																			0					0						c.e5+1		Synthetic construct DNA, clone: pF1KB6763, Homo sapiens CCL15 gene for chemokine (C-C motif) ligand 15, without stop codon, in Flexi system.							188.0	135.0	153.0					17																	34313606		2203	4300	6503	SO:0001630	splice_region_variant	348249							g.chr17:34313606C>A	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.79+1G>T	17.37:g.34313606C>A						CCL14_uc010wcq.1_Intron|CCL14_uc010wcr.1_Intron|CCL14_uc002hkn.2_Intron|CCL14-CCL15_uc010wct.1_Splice_Site|uc002hkq.2_RNA		NR_027921						5		-								E1P649|E1P650|Q13954	Splice_Site	SNP	ENST00000394509.4	37	c.1091_splice	CCDS32624.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290752	0.23564	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	.	.	.	4.74	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9992	0.36072	0.0:0.8999:0.0:0.1001	.	.	.	.	.	-1	.	.	.	-	.	.	CCL14	31337719	0.556000	0.26538	0.226000	0.23910	0.001000	0.01503	0.792000	0.26929	1.214000	0.43395	-0.222000	0.12452	.		0.557	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962	Intron
ERN1	2081	broad.mit.edu	37	17	62144066	62144066	+	Silent	SNP	C	C	T	rs183713088	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:62144066C>T	ENST00000433197.3	-	8	902	c.807G>A	c.(805-807)ccG>ccA	p.P269P	ERN1_ENST00000577567.1_5'Flank	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0					uc002jdz.2																			0				central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(805-807)CCG>CCA		endoplasmic reticulum to nucleus signalling 1		C		0,4176		0,0,2088	50.0	53.0	52.0		807	-11.1	0.0	17		52	1,8455		0,1,4227	no	coding-synonymous	ERN1	NM_001433.3		0,1,6315	TT,TC,CC		0.0118,0.0,0.0079		269/978	62144066	1,12631	2088	4228	6316	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62144066C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.807G>A	17.37:g.62144066C>T							p.P269P	NM_001433	NP_001424	O75460	ERN1_HUMAN			8	920	-			269			Lumenal (Potential).			Silent	SNP	ENST00000433197.3	37	c.807G>A	CCDS45762.1																																																																																				0.592	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433	
SLC16A5	9121	broad.mit.edu	37	17	73096774	73096774	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:73096774G>A	ENST00000450736.2	+	4	1431	c.1016G>A	c.(1015-1017)aGc>aAc	p.S339N	SLC16A5_ENST00000538213.2_Missense_Mutation_p.S379N|SLC16A5_ENST00000329783.4_Missense_Mutation_p.S339N|SLC16A5_ENST00000580123.1_Missense_Mutation_p.S339N			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	339					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGCGTACAGCGTGTCCATG	0.592																																						uc002jmr.2																			0				central_nervous_system(1)	1						c.(1015-1017)AGC>AAC		solute carrier family 16, member 5	Pyruvic acid(DB00119)						350.0	299.0	316.0					17																	73096774		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096774G>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1016G>A	17.37:g.73096774G>A	ENSP00000390564:p.Ser339Asn					SLC16A5_uc002jms.1_Missense_Mutation_p.S339N|SLC16A5_uc002jmt.2_Missense_Mutation_p.S339N|SLC16A5_uc002jmu.2_Missense_Mutation_p.S339N|SLC16A5_uc010wrt.1_Missense_Mutation_p.S379N	p.S339N	NM_004695	NP_004686	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		5	1388	+	all_lung(278;0.226)		339			Helical; (Potential).		B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.1016G>A	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879778	0.91740	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.42131	0.98;0.98;0.98	4.72	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.042676	0.85682	D	0.000000	T	0.60689	0.2288	L	0.55481	1.735	0.51767	D	0.999936	D;D	0.71674	0.996;0.998	D;D	0.71656	0.964;0.974	T	0.64905	-0.6297	10	0.87932	D	0	.	18.0503	0.89345	0.0:0.0:1.0:0.0	.	379;339	B4E288;O15375	.;MOT6_HUMAN	N	339;339;379	ENSP00000330141:S339N;ENSP00000390564:S339N;ENSP00000440212:S379N	ENSP00000330141:S339N	S	+	2	0	SLC16A5	70608369	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.813000	0.99286	2.350000	0.79820	0.561000	0.74099	AGC		0.592	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695	
ENGASE	64772	broad.mit.edu	37	17	77081747	77081747	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:77081747C>T	ENST00000579016.1	+	13	1746	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	582						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TAGACCTCCTCGTTTGCTTCT	0.662																																						uc002jwv.2																			0				skin(1)	1						c.(1744-1746)CTC>CTT		endo-beta-N-acetylglucosaminidase							41.0	46.0	44.0					17																	77081747		2080	4217	6297	SO:0001819	synonymous_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77081747C>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1746C>T	17.37:g.77081747C>T						ENGASE_uc002jww.2_Silent_p.L287L	p.L582L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			13	1754	+			582					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.1746C>T	CCDS42394.1																																																																																				0.662	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	
CCDC68	80323	broad.mit.edu	37	18	52604167	52604167	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:52604167C>T	ENST00000591504.1	-	6	642	c.368G>A	c.(367-369)gGa>gAa	p.G123E	CCDC68_ENST00000432185.1_Missense_Mutation_p.G123E|CCDC68_ENST00000337363.4_Missense_Mutation_p.G123E	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	123										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTGCTGCTCCTGCTTCTCT	0.418																																						uc002lfs.2																			0				skin(1)	1						c.(367-369)GGA>GAA		coiled-coil domain containing 68							121.0	106.0	111.0					18																	52604167		2203	4300	6503	SO:0001583	missense	80323							g.chr18:52604167C>T		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.368G>A	18.37:g.52604167C>T	ENSP00000466690:p.Gly123Glu					CCDC68_uc002lft.2_Missense_Mutation_p.G123E	p.G123E	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	6	540	-			123			Potential.		B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	c.368G>A	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449933	0.84101	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.39997	1.05;1.05	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000008	T	0.63510	0.2517	M	0.73598	2.24	0.45541	D	0.998494	D	0.89917	1.0	D	0.97110	1.0	T	0.57154	-0.7860	10	0.20519	T	0.43	-28.4592	16.7359	0.85447	0.0:1.0:0.0:0.0	.	123	Q9H2F9	CCD68_HUMAN	E	123	ENSP00000337209:G123E;ENSP00000413406:G123E	ENSP00000337209:G123E	G	-	2	0	CCDC68	50755165	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.102000	0.57776	2.775000	0.95449	0.650000	0.86243	GGA		0.418	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214	
DOK6	220164	broad.mit.edu	37	18	67365777	67365777	+	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:67365777T>A	ENST00000382713.5	+	5	737	c.547T>A	c.(547-549)Tca>Aca	p.S183T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	183	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCCTCTCAGCTCACTGAGGAG	0.463																																						uc002lkl.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(547-549)TCA>ACA		docking protein 6							102.0	84.0	90.0					18																	67365777		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67365777T>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.547T>A	18.37:g.67365777T>A	ENSP00000372160:p.Ser183Thr						p.S183T	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			5	737	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	183			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.547T>A	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101900	0.56183	.	.	ENSG00000206052	ENST00000382713	D	0.82433	-1.61	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	L	0.34521	1.04	0.58432	D	0.999998	P	0.51933	0.949	P	0.45660	0.489	T	0.76000	-0.3119	10	0.23302	T	0.38	.	15.1721	0.72881	0.0:0.0:0.0:1.0	.	183	Q6PKX4	DOK6_HUMAN	T	183	ENSP00000372160:S183T	ENSP00000372160:S183T	S	+	1	0	DOK6	65516757	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.185000	0.72013	2.187000	0.69744	0.482000	0.46254	TCA		0.463	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	
FZR1	51343	broad.mit.edu	37	19	3531983	3531983	+	Missense_Mutation	SNP	A	A	C	rs200584048		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:3531983A>C	ENST00000395095.3	+	9	898	c.898A>C	c.(898-900)Acc>Ccc	p.T300P	FZR1_ENST00000441788.2_Missense_Mutation_p.T300P|FZR1_ENST00000313639.8_Missense_Mutation_p.T211P	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	300					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCCGCACCCCGCCACT	0.711																																						uc010dtk.2																			0				lung(1)|kidney(1)	2						c.(898-900)ACC>CCC		Fzr1 protein isoform 1							8.0	10.0	9.0					19																	3531983		2136	4221	6357	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3531983A>C	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.898A>C	19.37:g.3531983A>C	ENSP00000378529:p.Thr300Pro					FZR1_uc002lxt.2_Missense_Mutation_p.T300P|FZR1_uc002lxv.2_Missense_Mutation_p.T211P	p.T300P	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	9	932	+			300			WD 3.		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.898A>C	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537243	0.65085	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.59502	1.35;1.35;0.26	5.42	1.97	0.26223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.250630	0.46758	D	0.000275	T	0.64360	0.2591	M	0.69248	2.105	0.51012	D	0.999904	B;P;P	0.47034	0.352;0.725;0.889	B;P;P	0.58013	0.163;0.533;0.831	T	0.61584	-0.7033	10	0.62326	D	0.03	-34.4525	5.2095	0.15308	0.6487:0.0:0.0798:0.2715	.	300;211;300	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	P	300;300;211	ENSP00000410369:T300P;ENSP00000378529:T300P;ENSP00000321800:T211P	ENSP00000321800:T211P	T	+	1	0	FZR1	3482983	0.703000	0.27826	0.927000	0.36925	0.829000	0.46940	1.802000	0.38853	0.304000	0.22809	0.459000	0.35465	ACC		0.711	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263	
ZNF442	79973	broad.mit.edu	37	19	12461021	12461021	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:12461021G>A	ENST00000242804.4	-	6	1960	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ZNF442_ENST00000438182.1_Missense_Mutation_p.P391S|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	460					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(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATTTATAGGGTTTCTCTCCA	0.378																																						uc002mtr.1																			0				large_intestine(2)|breast(1)|kidney(1)	4						c.(1378-1380)CCC>TCC		zinc finger protein 442							62.0	67.0	65.0					19																	12461021		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461021G>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1378C>T	19.37:g.12461021G>A	ENSP00000242804:p.Pro460Ser					ZNF442_uc010xmk.1_Missense_Mutation_p.P391S	p.P460S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	1989	-			460					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1378C>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327403	0.60743	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.28454	1.61;1.61	0.832	0.832	0.18867	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46210	0.1381	M	0.69358	2.11	0.34097	D	0.661457	D	0.76494	0.999	D	0.68039	0.955	T	0.58165	-0.7684	9	0.62326	D	0.03	.	7.4953	0.27485	0.0:0.0:1.0:0.0	.	460	Q9H7R0	ZN442_HUMAN	S	460;391	ENSP00000242804:P460S;ENSP00000388634:P391S	ENSP00000242804:P460S	P	-	1	0	ZNF442	12322021	1.000000	0.71417	0.874000	0.34290	0.643000	0.38383	5.433000	0.66520	0.737000	0.32582	0.313000	0.20887	CCC		0.378	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824	
PSG8	440533	broad.mit.edu	37	19	43268388	43268388	+	Missense_Mutation	SNP	G	G	A	rs142689447		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:43268388G>A	ENST00000306511.4	-	2	207	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PSG8_ENST00000401467.2_Missense_Mutation_p.T37M|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.T37M	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	37	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCTTCAATCGTGACTTGGGC	0.463													.|||	1	0.000199681	0.0	0.0	5008	,	,		21250	0.0		0.001	False		,,,				2504	0.0					uc002ouo.2																			0					0						c.(109-111)ACG>ATG		pregnancy specific beta-1-glycoprotein 8 isoform		G	MET/THR,,MET/THR	0,4406		0,0,2203	173.0	170.0	171.0		110,,110	1.4	0.0	19	dbSNP_134	171	8,8590	6.4+/-24.3	0,8,4291	no	missense,intron,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	81,,81	0,8,6494	AA,AG,GG		0.093,0.0,0.0615	benign,,benign	37/420,,37/427	43268388	8,12996	2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43268388G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.110C>T	19.37:g.43268388G>A	ENSP00000305005:p.Thr37Met					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.T37M|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_Translation_Start_Site|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.T37M|PSG8_uc002oum.3_Missense_Mutation_p.T37M|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.T37M	p.T37M	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			2	208	-		Prostate(69;0.00899)	37			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.110C>T	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	5.019	0.189287	0.09547	0.0	9.3E-4	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.68331	-0.32;-0.32;-0.32	1.35	1.35	0.21983	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72415	0.3457	M	0.77712	2.385	0.09310	N	1	P;B;P;B;B	0.44690	0.841;0.062;0.538;0.174;0.208	P;B;B;B;B	0.52646	0.705;0.063;0.204;0.066;0.109	T	0.60662	-0.7219	9	0.49607	T	0.09	.	6.1568	0.20342	0.0:0.0:1.0:0.0	.	37;37;37;37;37	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	M	37	ENSP00000385869:T37M;ENSP00000386090:T37M;ENSP00000305005:T37M	ENSP00000305005:T37M	T	-	2	0	PSG8	47960228	0.007000	0.16637	0.011000	0.14972	0.031000	0.12232	2.204000	0.42761	1.063000	0.40649	0.184000	0.17185	ACG		0.463	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		
RTN2	6253	broad.mit.edu	37	19	45998164	45998164	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:45998164C>T	ENST00000245923.4	-	3	414	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.R60Q|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000456399.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	60					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGTCAGCTCCCGGGGGGTGCC	0.662																																						uc002pcb.2																			0				ovary(3)	3						c.(178-180)CGG>CAG		reticulon 2 isoform A							28.0	31.0	30.0					19																	45998164		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45998164C>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.179G>A	19.37:g.45998164C>T	ENSP00000245923:p.Arg60Gln					RTN2_uc002pcc.2_Missense_Mutation_p.R60Q|RTN2_uc002pcd.2_RNA	p.R60Q	NM_005619	NP_005610	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	3	407	-		Ovarian(192;0.051)|all_neural(266;0.112)	60					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.179G>A	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663444	0.88251	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.57273	0.45;0.41	5.44	5.44	0.79542	.	0.138626	0.31797	N	0.007051	T	0.60521	0.2275	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.57021	-0.7882	10	0.33141	T	0.24	-24.8057	14.7561	0.69567	0.0:1.0:0.0:0.0	.	60;60	O75298-2;O75298	.;RTN2_HUMAN	Q	60	ENSP00000345127:R60Q;ENSP00000245923:R60Q	ENSP00000245923:R60Q	R	-	2	0	RTN2	50690004	0.998000	0.40836	0.985000	0.45067	0.571000	0.35966	5.475000	0.66787	2.561000	0.86390	0.462000	0.41574	CGG		0.662	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619	
TRPM4	54795	broad.mit.edu	37	19	49686170	49686170	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:49686170C>T	ENST00000252826.5	+	11	1725	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TRPM4_ENST00000427978.2_Silent_p.F533F|TRPM4_ENST00000355712.5_Silent_p.F179F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	533					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCAGGGCTTCGGGGAGAGCG	0.711																																						uc002pmw.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1597-1599)TTC>TTT		transient receptor potential cation channel,							6.0	9.0	8.0					19																	49686170		1962	3927	5889	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49686170C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1599C>T	19.37:g.49686170C>T						TRPM4_uc010emu.2_Silent_p.F533F|TRPM4_uc010yak.1_Intron|TRPM4_uc002pmx.2_Silent_p.F359F|TRPM4_uc010emv.2_Silent_p.F418F|TRPM4_uc010yal.1_Silent_p.F179F|TRPM4_uc002pmy.2_5'UTR	p.F533F	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	11	1671	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	533			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.1599C>T	CCDS33073.1																																																																																				0.711	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	
PIKFYVE	200576	broad.mit.edu	37	2	209179975	209179975	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:209179975C>G	ENST00000264380.4	+	15	2043	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	629					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAGTGACTCACTGTCATCATC	0.423																																						uc002vcz.2																			0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(1885-1887)CTG>GTG		phosphatidylinositol-3-phosphate 5-kinase type							126.0	98.0	108.0					2																	209179975		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209179975C>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1885C>G	2.37:g.209179975C>G	ENSP00000264380:p.Leu629Val					PIKFYVE_uc010fun.1_Missense_Mutation_p.L310V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L573V	p.L629V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			15	2043	+			629					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.1885C>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350016	0.61183	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.79940	-1.32;-1.32	5.64	0.459	0.16678	.	0.000000	0.64402	D	0.000013	T	0.78966	0.4367	L	0.31526	0.94	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.80764	0.994;0.987	T	0.71695	-0.4515	10	0.13108	T	0.6	-10.1447	10.0891	0.42436	0.0:0.4997:0.0:0.5003	.	629;573	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	V	629;205;573	ENSP00000264380:L629V;ENSP00000405736:L573V	ENSP00000264380:L629V	L	+	1	2	PIKFYVE	208888220	0.436000	0.25586	0.999000	0.59377	0.930000	0.56654	0.407000	0.21049	0.118000	0.18165	-0.355000	0.07637	CTG		0.423	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
TNS1	7145	broad.mit.edu	37	2	218749762	218749762	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:218749762G>T	ENST00000171887.4	-	14	1319	c.867C>A	c.(865-867)ttC>ttA	p.F289L	TNS1_ENST00000419504.1_Missense_Mutation_p.F289L|TNS1_ENST00000430930.1_Missense_Mutation_p.F289L|TNS1_ENST00000310858.6_Missense_Mutation_p.F320L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	289	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCGCACCTTTGAAAGCATCAT	0.572																																						uc002vgt.2																			0				ovary(3)|breast(1)	4						c.(865-867)TTC>TTA		tensin							110.0	92.0	98.0					2																	218749762		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218749762G>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.867C>A	2.37:g.218749762G>T	ENSP00000171887:p.Phe289Leu					TNS1_uc002vgr.2_Missense_Mutation_p.F289L|TNS1_uc002vgs.2_Missense_Mutation_p.F289L|TNS1_uc010zjv.1_Missense_Mutation_p.F289L|TNS1_uc010fvj.1_Missense_Mutation_p.F357L|TNS1_uc010fvk.1_Missense_Mutation_p.F414L|TNS1_uc002vgu.3_Missense_Mutation_p.F320L|TNS1_uc010fvi.1_5'UTR	p.F289L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	14	1265	-		Renal(207;0.0483)|Lung NSC(271;0.213)	289			C2 tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.867C>A	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.66|10.66	1.412706|1.412706	0.25465|0.25465	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858|ENST00000453356	D;D;D;D;D;D|.	0.84589|.	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87|.	4.82|4.82	3.94|3.94	0.45596|0.45596	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.227351|.	0.45126|.	D|.	0.000395|.	T|T	0.52517|0.52517	0.1739|0.1739	L|L	0.36672|0.36672	1.1|1.1	0.47341|0.47341	D|D	0.999394|0.999394	D;B;P;D;D;D|.	0.76494|.	0.989;0.423;0.483;0.999;0.992;0.992|.	P;P;B;D;D;P|.	0.76071|.	0.869;0.466;0.372;0.975;0.987;0.906|.	T|T	0.46148|0.46148	-0.9212|-0.9212	10|5	0.34782|.	T|.	0.22|.	.|.	10.1139|10.1139	0.42579|0.42579	0.1633:0.0:0.8367:0.0|0.1633:0.0:0.8367:0.0	.|.	289;343;320;289;289;289|.	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55|.	.;.;.;TENS1_HUMAN;.;.|.	L|K	289;289;289;414;357;320|65	ENSP00000171887:F289L;ENSP00000408724:F289L;ENSP00000406016:F289L;ENSP00000405460:F414L;ENSP00000400383:F357L;ENSP00000308321:F320L|.	ENSP00000171887:F289L|.	F|Q	-|-	3|1	2|0	TNS1|TNS1	218458007|218458007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	0.923000|0.923000	0.28757|0.28757	1.239000|1.239000	0.43787|0.43787	0.557000|0.557000	0.71058|0.71058	TTC|CAA		0.572	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
ITM2C	81618	broad.mit.edu	37	2	231740464	231740464	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:231740464G>A	ENST00000326427.6	+	3	517	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	ITM2C_ENST00000335005.6_Missense_Mutation_p.V84M|ITM2C_ENST00000326407.6_Missense_Mutation_p.V131M|ITM2C_ENST00000409704.2_Missense_Mutation_p.V69M|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	131					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCGCATCAACGTGCCTGTGCC	0.617																																						uc002vqz.2																			0					0						c.(391-393)GTG>ATG		integral membrane protein 2C isoform 1							129.0	120.0	123.0					2																	231740464		2203	4300	6503	SO:0001583	missense	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231740464G>A	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.391G>A	2.37:g.231740464G>A	ENSP00000322730:p.Val131Met					ITM2C_uc002vra.2_Missense_Mutation_p.V84M|ITM2C_uc002vrb.2_Missense_Mutation_p.V131M|ITM2C_uc002vrc.2_Missense_Mutation_p.V20M|ITM2C_uc002vrd.2_Missense_Mutation_p.V20M	p.V131M	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	511	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	131					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	c.391G>A	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412895	0.42817	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000326407;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T;T	0.60424	0.58;0.24;1.01;0.19;0.85;0.22;0.73;0.24	4.91	3.95	0.45737	.	0.065517	0.64402	D	0.000010	T	0.70561	0.3238	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.73380	0.98;0.884;0.894	T	0.72649	-0.4229	10	0.87932	D	0	-12.4899	7.3312	0.26584	0.1203:0.0:0.8797:0.0	.	131;84;131	Q9NQX7-3;Q9NQX7-2;Q9NQX7	.;.;ITM2C_HUMAN	M	131;69;131;84;131;69;69;69	ENSP00000390655:V131M;ENSP00000440295:V69M;ENSP00000322730:V131M;ENSP00000335121:V84M;ENSP00000322100:V131M;ENSP00000444899:V69M;ENSP00000387242:V69M;ENSP00000403257:V69M	ENSP00000322100:V131M	V	+	1	0	ITM2C	231448708	1.000000	0.71417	0.859000	0.33776	0.072000	0.16883	6.027000	0.70881	2.545000	0.85829	0.591000	0.81541	GTG		0.617	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926	
COL6A3	1293	broad.mit.edu	37	2	238275697	238275697	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:238275697G>C	ENST00000295550.4	-	11	5585	c.5133C>G	c.(5131-5133)taC>taG	p.Y1711*	COL6A3_ENST00000409809.1_Nonsense_Mutation_p.Y1505*|COL6A3_ENST00000472056.1_Nonsense_Mutation_p.Y1104*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.Y1505*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.Y1511*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.Y1510*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1711	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCCCCTTTGTAGACCACTT	0.557																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(5131-5133)TAC>TAG		alpha 3 type VI collagen isoform 1 precursor							91.0	75.0	80.0					2																	238275697		2203	4300	6503	SO:0001587	stop_gained	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275697G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5133C>G	2.37:g.238275697G>C	ENSP00000295550:p.Tyr1711*					COL6A3_uc002vwo.2_Nonsense_Mutation_p.Y1505*|COL6A3_uc010znj.1_Nonsense_Mutation_p.Y1104*	p.Y1711*	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5418	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1711			VWFA 9.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	c.5133C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	44	10.648513	0.99444	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.56	2.75	0.32379	.	0.000000	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4286	0.32744	0.3623:0.0:0.6377:0.0	.	.	.	.	X	1711;1510;1505;1104;1505;1511	.	ENSP00000295550:Y1711X	Y	-	3	2	COL6A3	237940436	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.561000	0.45905	0.685000	0.31468	0.650000	0.86243	TAC		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
SULF2	55959	broad.mit.edu	37	20	46318884	46318884	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:46318884G>A	ENST00000359930.4	-	5	1574	c.723C>T	c.(721-723)aaC>aaT	p.N241N	SULF2_ENST00000361612.4_Silent_p.N241N|SULF2_ENST00000484875.1_Silent_p.N241N|SULF2_ENST00000467815.1_Silent_p.N241N	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	241					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.N241K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGAGATGCGTTTGGGAAGA	0.567																																						uc002xto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(721-723)AAC>AAT		sulfatase 2 isoform a precursor							173.0	133.0	146.0					20																	46318884		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46318884G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.723C>T	20.37:g.46318884G>A						SULF2_uc002xtr.2_Silent_p.N241N|SULF2_uc002xtq.2_Silent_p.N241N|SULF2_uc010ghv.1_Silent_p.N241N	p.N241N	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			5	1053	-			241					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.723C>T	CCDS13408.1																																																																																				0.567	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
HRH3	11255	broad.mit.edu	37	20	60791774	60791774	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:60791774G>A	ENST00000340177.5	-	3	910	c.626C>T	c.(625-627)aCg>aTg	p.T209M	HRH3_ENST00000317393.6_Missense_Mutation_p.T209M	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	209					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GAGGAAGGGCGTAAAGAACTC	0.612																																						uc002ycf.2																			0					0						c.(625-627)ACG>ATG		histamine receptor H3	Histamine Phosphate(DB00667)						85.0	71.0	76.0					20																	60791774		2203	4300	6503	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791774G>A	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.626C>T	20.37:g.60791774G>A	ENSP00000342560:p.Thr209Met					HRH3_uc002ycg.2_Missense_Mutation_p.T209M|HRH3_uc002ych.2_Missense_Mutation_p.T209M|HRH3_uc002yci.2_Missense_Mutation_p.T209M	p.T209M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	923	-	Breast(26;7.76e-09)		209			Helical; Name=5; (Potential).		Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.626C>T	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293823	0.60086	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.37411	1.2;1.2	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.162163	0.53938	D	0.000049	T	0.53077	0.1774	L	0.45581	1.43	0.50467	D	0.999871	D;P;D;P	0.89917	1.0;0.593;0.985;0.952	D;B;P;P	0.68765	0.96;0.096;0.652;0.701	T	0.57177	-0.7856	10	0.62326	D	0.03	-32.0018	17.3247	0.87244	0.0:0.0:1.0:0.0	.	209;209;209;209	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	M	209	ENSP00000342560:T209M;ENSP00000321482:T209M	ENSP00000321482:T209M	T	-	2	0	HRH3	60225169	1.000000	0.71417	0.988000	0.46212	0.563000	0.35712	6.319000	0.72871	2.143000	0.66587	0.205000	0.17691	ACG		0.612	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232	
COL6A2	1292	broad.mit.edu	37	21	47535812	47535812	+	Silent	SNP	G	G	A	rs140790797		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr21:47535812G>A	ENST00000300527.4	+	6	932	c.828G>A	c.(826-828)ccG>ccA	p.P276P	COL6A2_ENST00000409416.1_Silent_p.P276P|COL6A2_ENST00000310645.5_Silent_p.P276P|COL6A2_ENST00000397763.1_Silent_p.P276P|COL6A2_ENST00000357838.4_Silent_p.P276P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	276	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGGTGAGCCGGGAGAGCCTG	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15851	0.0		0.0	False		,,,				2504	0.0					uc002zia.1																			0				central_nervous_system(7)|ovary(1)	8						c.(826-828)CCG>CCA		alpha 2 type VI collagen isoform 2C2 precursor		G	,,	3,4399	6.2+/-15.9	0,3,2198	61.0	55.0	57.0		828,828,828	-8.0	0.6	21	dbSNP_134	57	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	0,4,6496	AA,AG,GG		0.0116,0.0682,0.0308	,,	276/1020,276/919,276/829	47535812	4,12996	2201	4299	6500	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47535812G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.828G>A	21.37:g.47535812G>A						COL6A2_uc002zhy.1_Silent_p.P276P|COL6A2_uc002zhz.1_Silent_p.P276P|COL6A2_uc002zib.1_Intron	p.P276P	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	6	910	+	Breast(49;0.245)		276			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.828G>A	CCDS13728.1																																																																																				0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
TRIOBP	11078	broad.mit.edu	37	22	38119624	38119624	+	Missense_Mutation	SNP	C	C	A	rs559855483		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:38119624C>A	ENST00000406386.3	+	7	1316	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	354					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGGATAACCCCAGAACCTCT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17056	0.001		0.0	False		,,,				2504	0.0					uc003atr.2																			0				central_nervous_system(1)	1						c.(1060-1062)CCC>CAC		TRIO and F-actin binding protein isoform 6							128.0	140.0	136.0					22																	38119624		1888	4110	5998	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119624C>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1061C>A	22.37:g.38119624C>A	ENSP00000384312:p.Pro354His					TRIOBP_uc003atu.2_Missense_Mutation_p.P182H|TRIOBP_uc003atq.1_Missense_Mutation_p.P354H|TRIOBP_uc003ats.1_Missense_Mutation_p.P182H	p.P354H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1332	+	Melanoma(58;0.0574)		354					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1061C>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211935	0.39102	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.22134	1.97	4.53	2.42	0.29668	.	.	.	.	.	T	0.19644	0.0472	L	0.36672	1.1	0.09310	N	0.999999	D	0.58620	0.983	P	0.46975	0.533	T	0.09773	-1.0659	9	0.87932	D	0	.	6.8258	0.23883	0.0:0.7025:0.0:0.2975	.	354	Q9H2D6	TARA_HUMAN	H	354	ENSP00000384312:P354H	ENSP00000384312:P354H	P	+	2	0	TRIOBP	36449570	0.000000	0.05858	0.002000	0.10522	0.255000	0.26057	0.402000	0.20965	0.477000	0.27464	0.456000	0.33151	CCC		0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
PNPLA5	150379	broad.mit.edu	37	22	44287074	44287074	+	Missense_Mutation	SNP	C	C	A	rs79793310	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:44287074C>A	ENST00000597664.1	-	2	423	c.294G>T	c.(292-294)caG>caT	p.Q98H	PNPLA5_ENST00000216177.4_Missense_Mutation_p.Q98H|PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000593866.1_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	98	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTGCAGCTGCTGCTTGACGT	0.662																																						uc003beg.2																			0					0						c.(292-294)CAG>CAT		patatin-like phospholipase domain containing 5							39.0	36.0	37.0					22																	44287074		2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44287074C>A	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.294G>T	22.37:g.44287074C>A	ENSP00000471069:p.Gln98His					PNPLA5_uc011aqc.1_5'UTR|PNPLA5_uc003beh.2_Intron	p.Q98H	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN			2	391	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	98			Patatin.		B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.294G>T		.	.	.	.	.	.	.	.	.	.	C	12.52	1.962826	0.34659	.	.	ENSG00000100341	ENST00000216177;ENST00000438734	T;T	0.77620	-1.11;-1.11	4.83	-1.28	0.09318	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.434770	0.04432	N	0.369376	T	0.66954	0.2842	L	0.46614	1.455	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44620	-0.9316	10	0.37606	T	0.19	-1.4166	1.5041	0.02483	0.1485:0.4388:0.1451:0.2677	.	98	Q7Z6Z6	PLPL5_HUMAN	H	98	ENSP00000216177:Q98H;ENSP00000405732:Q98H	ENSP00000216177:Q98H	Q	-	3	2	PNPLA5	42618407	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.174000	0.09839	-0.072000	0.12864	-0.500000	0.04577	CAG		0.662	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814	
ATP2B2	491	broad.mit.edu	37	3	10387071	10387071	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:10387071C>T	ENST00000352432.4	-	17	2769	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	ATP2B2_ENST00000383800.4_Silent_p.T855T|ATP2B2_ENST00000397077.1_Silent_p.T855T|ATP2B2_ENST00000360273.2_Silent_p.T900T|ATP2B2_ENST00000343816.4_Silent_p.T886T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	900					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GACCCACCTGCGTGATGCAGG	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2698-2700)ACG>ACA		plasma membrane calcium ATPase 2 isoform 1							90.0	74.0	79.0					3																	10387071		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10387071C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2700G>A	3.37:g.10387071C>T						ATP2B2_uc003bvv.2_Silent_p.T855T|ATP2B2_uc003bvw.2_Silent_p.T855T|ATP2B2_uc010hdo.2_Silent_p.T605T	p.T900T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			18	3139	-			900			Extracellular (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.2700G>A	CCDS33701.1																																																																																				0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
SPICE1	152185	broad.mit.edu	37	3	113169336	113169336	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:113169336G>T	ENST00000295872.4	-	15	2429	c.2170C>A	c.(2170-2172)Cca>Aca	p.P724T		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	724					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ATACTACCTGGTGTTAGAGAC	0.373																																						uc003eag.3																			0					0						c.(2170-2172)CCA>ACA		coiled-coil domain containing 52							99.0	94.0	96.0					3																	113169336		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113169336G>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2170C>A	3.37:g.113169336G>T	ENSP00000295872:p.Pro724Thr					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.P620T	p.P724T	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			15	2461	-			724					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.2170C>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566217	0.27915	.	.	ENSG00000163611	ENST00000295872	T	0.35048	1.33	4.8	0.636	0.17729	.	0.405801	0.24649	N	0.036727	T	0.31918	0.0812	M	0.70275	2.135	0.09310	N	1	B;B	0.26809	0.16;0.002	B;B	0.31337	0.128;0.005	T	0.31166	-0.9953	10	0.52906	T	0.07	-3.1041	2.3486	0.04278	0.174:0.1498:0.5221:0.1541	.	620;724	B3KX77;Q8N0Z3	.;SPICE_HUMAN	T	724	ENSP00000295872:P724T	ENSP00000295872:P724T	P	-	1	0	SPICE1	114652026	0.689000	0.27690	0.019000	0.16419	0.220000	0.24768	1.042000	0.30303	0.191000	0.20236	-1.314000	0.01303	CCA		0.373	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:128696988T>C	ENST00000265068.5	-	5	875	c.708A>G	c.(706-708)gaA>gaG	p.E236E	KIAA1257_ENST00000515659.1_Silent_p.E124E|KIAA1257_ENST00000511438.1_Silent_p.E236E|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358																																						uc003elj.3																			0					0						c.(706-708)GAA>GAG		hypothetical protein LOC57501							136.0	130.0	132.0					3																	128696988		1876	4099	5975	SO:0001819	synonymous_variant	57501							g.chr3:128696988T>C	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.708A>G	3.37:g.128696988T>C						KIAA1257_uc003elg.1_Silent_p.E236E|KIAA1257_uc003eli.3_Silent_p.E124E	p.E236E	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN			5	904	-			236					Q8IXY7|Q8N5T4	Silent	SNP	ENST00000265068.5	37	c.708A>G	CCDS46905.1																																																																																				0.358	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741	
CLDN18	51208	broad.mit.edu	37	3	137717743	137717743	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:137717743C>T	ENST00000343735.4	+	1	167	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	11					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	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)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557																																						uc003ero.1																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(31-33)TTC>TTT		claudin 18 isoform 2							125.0	101.0	109.0					3																	137717743		2203	4300	6503	SO:0001819	synonymous_variant	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717743C>T	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.33C>T	3.37:g.137717743C>T							p.F11F	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			1	86	+			11			Helical; (Potential).		A5PL21|Q96PH4	Silent	SNP	ENST00000343735.4	37	c.33C>T	CCDS33862.1																																																																																				0.557	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026	
PLCH1	23007	broad.mit.edu	37	3	155203313	155203313	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:155203313C>T	ENST00000340059.7	-	22	2829	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	PLCH1_ENST00000494598.1_Missense_Mutation_p.D924N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D906N|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Missense_Mutation_p.D906N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D906N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D944N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	944					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACACAGAATCCTTTATCTCC	0.522																																						uc011bok.1																			0				skin(3)|ovary(1)	4						c.(2830-2832)GAT>AAT		phospholipase C eta 1 isoform a							159.0	148.0	152.0					3																	155203313		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203313C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2830G>A	3.37:g.155203313C>T	ENSP00000345988:p.Asp944Asn					PLCH1_uc011boj.1_Missense_Mutation_p.D944N|PLCH1_uc011bol.1_Missense_Mutation_p.D906N	p.D944N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3107	-			944					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2830G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419707	0.96111	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.35048	1.89;1.84;1.33;1.73;1.84;1.84	5.88	5.88	0.94601	.	0.264633	0.38436	N	0.001693	T	0.57198	0.2037	M	0.65498	2.005	0.58432	D	0.999998	D;B;B	0.59767	0.986;0.165;0.101	P;B;B	0.58454	0.839;0.081;0.096	T	0.55547	-0.8124	10	0.56958	D	0.05	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	906;944;944	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	924;906;944;944;906;906	ENSP00000419100:D924N;ENSP00000417502:D906N;ENSP00000402759:D944N;ENSP00000345988:D944N;ENSP00000335469:D906N;ENSP00000412977:D906N	ENSP00000335469:D906N	D	-	1	0	PLCH1	156686007	1.000000	0.71417	0.894000	0.35097	0.708000	0.40852	3.002000	0.49496	2.789000	0.95967	0.655000	0.94253	GAT		0.522	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
PEX5L	51555	broad.mit.edu	37	3	179526143	179526143	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:179526143C>T	ENST00000467460.1	-	13	1765	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.G287S|PEX5L_ENST00000392649.3_Missense_Mutation_p.G371S|PEX5L_ENST00000476138.1_Missense_Mutation_p.G436S|PEX5L_ENST00000485199.1_Missense_Mutation_p.G444S|PEX5L_ENST00000263962.8_Missense_Mutation_p.G477S|PEX5L_ENST00000472994.1_Missense_Mutation_p.G420S|PEX5L_ENST00000464614.1_Missense_Mutation_p.G371S|PEX5L_ENST00000465751.1_Missense_Mutation_p.G455S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	479					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACCCCTAGACCTGTCTGCAGG	0.458																																						uc003fki.1																			0				ovary(3)|large_intestine(1)	4						c.(1435-1437)GGT>AGT		peroxisomal biogenesis factor 5-like							99.0	100.0	100.0					3																	179526143		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179526143C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1435G>A	3.37:g.179526143C>T	ENSP00000419975:p.Gly479Ser					PEX5L_uc011bqd.1_Missense_Mutation_p.G436S|PEX5L_uc011bqe.1_Missense_Mutation_p.G287S|PEX5L_uc011bqf.1_Missense_Mutation_p.G371S|PEX5L_uc003fkj.1_Missense_Mutation_p.G444S|PEX5L_uc010hxd.1_Missense_Mutation_p.G477S|PEX5L_uc011bqg.1_Missense_Mutation_p.G455S|PEX5L_uc011bqh.1_Missense_Mutation_p.G420S	p.G479S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		13	1565	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		479			TPR 3.		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1435G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603950	0.96626	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;0.999;1.0	T	0.70945	-0.4734	10	0.87932	D	0	-19.8978	20.8794	0.99867	0.0:1.0:0.0:0.0	.	420;455;371;477;444;479	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	S	479;477;444;477;371;287;436;367;420;371;455	ENSP00000419975:G479S;ENSP00000263962:G477S;ENSP00000418440:G444S;ENSP00000376420:G371S;ENSP00000418665:G287S;ENSP00000420555:G436S;ENSP00000418054:G420S;ENSP00000417270:G371S;ENSP00000419348:G455S	ENSP00000263962:G477S	G	-	1	0	PEX5L	181008837	1.000000	0.71417	0.942000	0.38095	0.920000	0.55202	7.747000	0.85070	2.941000	0.99782	0.655000	0.94253	GGT		0.458	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	
HTR3E	285242	broad.mit.edu	37	3	183823993	183823993	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:183823993G>A	ENST00000415389.2	+	8	1469	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.V335M|HTR3E_ENST00000425359.2_Missense_Mutation_p.V320M|HTR3E_ENST00000440596.2_Missense_Mutation_p.V361M|HTR3E_ENST00000335304.2_Missense_Mutation_p.V350M	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	335					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CCTGCTGCACGTGGCCACCAC	0.667																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1003-1005)GTG>ATG		5-hydroxytryptamine receptor 3 subunit E							67.0	66.0	66.0					3																	183823993		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823993G>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1003G>A	3.37:g.183823993G>A	ENSP00000401444:p.Val335Met					HTR3E_uc003fml.3_Missense_Mutation_p.V320M|HTR3E_uc003fmm.2_Missense_Mutation_p.V350M|HTR3E_uc010hxr.2_Missense_Mutation_p.V361M|HTR3E_uc003fmn.2_Missense_Mutation_p.V335M	p.V335M	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1469	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		335			Cytoplasmic (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.1003G>A	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	14.31	2.497183	0.44352	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	3.4	0.0539	0.14308	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.051440	0.02013	U	0.047195	D	0.85788	0.5778	L	0.47716	1.5	0.21579	N	0.99963	B;D;D;D;D	0.59767	0.141;0.986;0.982;0.982;0.982	B;P;P;P;P	0.55713	0.067;0.748;0.61;0.782;0.717	T	0.72381	-0.4311	10	0.42905	T	0.14	.	10.6706	0.45755	0.0:0.3614:0.6386:0.0	.	361;335;335;350;320	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	M	335;320;350;335;361	ENSP00000401444:V335M;ENSP00000401900:V320M;ENSP00000335511:V350M;ENSP00000395833:V335M;ENSP00000406050:V361M	ENSP00000335511:V350M	V	+	1	0	HTR3E	185306687	0.570000	0.26651	0.999000	0.59377	0.804000	0.45430	-1.051000	0.03507	0.202000	0.20498	-0.311000	0.09066	GTG		0.667	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
UNC5C	8633	broad.mit.edu	37	4	96199412	96199412	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:96199412C>T	ENST00000453304.1	-	4	940	c.592G>A	c.(592-594)Gag>Aag	p.E198K	UNC5C_ENST00000504962.1_Missense_Mutation_p.E198K|UNC5C_ENST00000506749.1_Missense_Mutation_p.E198K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	198	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTATTCACCTCAGCCACTGGG	0.453																																						uc003htp.1																			0				ovary(3)|pancreas(1)	4						c.(592-594)GAG>AAG		unc5C precursor							134.0	120.0	125.0					4																	96199412		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96199412C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.592G>A	4.37:g.96199412C>T	ENSP00000406022:p.Glu198Lys					UNC5C_uc010ilc.1_Missense_Mutation_p.E198K|UNC5C_uc003htq.2_Missense_Mutation_p.E198K	p.E198K	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	4	746	-		Hepatocellular(203;0.114)	198			Extracellular (Potential).|Ig-like C2-type.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.592G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448036	0.84101	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	L	0.47716	1.5	0.80722	D	1	B;P;B	0.38617	0.201;0.64;0.409	B;B;B	0.40602	0.297;0.334;0.253	T	0.68644	-0.5354	10	0.59425	D	0.04	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	198;198;198	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	198;157;198;198;198	ENSP00000406022:E198K;ENSP00000426924:E198K;ENSP00000426153:E198K;ENSP00000425117:E198K	ENSP00000328673:E157K	E	-	1	0	UNC5C	96418435	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.776000	0.85560	2.654000	0.90174	0.563000	0.77884	GAG		0.453	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
ANK2	287	broad.mit.edu	37	4	114277204	114277204	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:114277204A>T	ENST00000357077.4	+	38	7483	c.7430A>T	c.(7429-7431)aAg>aTg	p.K2477M	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.K2444M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2477					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTGAACCAAAGATGAAGGCT	0.502																																						uc003ibe.3																			0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(7429-7431)AAG>ATG		ankyrin 2 isoform 1							76.0	78.0	77.0					4																	114277204		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114277204A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7430A>T	4.37:g.114277204A>T	ENSP00000349588:p.Lys2477Met					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K2492M	p.K2477M	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7530	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2444					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7430A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917534	0.52546	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.70399	-0.47;-0.48	6.06	4.88	0.63580	.	0.000000	0.64402	D	0.000014	T	0.77287	0.4108	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65874	0.817;0.939	T	0.76203	-0.3045	9	.	.	.	.	5.9267	0.19116	0.6079:0.255:0.1371:0.0	.	2444;2477	Q01484;Q01484-4	ANK2_HUMAN;.	M	2477;2444	ENSP00000349588:K2477M;ENSP00000264366:K2444M	.	K	+	2	0	ANK2	114496653	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	1.459000	0.35234	1.121000	0.41925	0.533000	0.62120	AAG		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
IL2	3558	broad.mit.edu	37	4	123374886	123374886	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:123374886G>A	ENST00000226730.4	-	3	614	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	110					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	GAACTATTACGTTGATATTGC	0.353			T	TNFRSF17	intestinal T-cell lymphoma																																	uc003ier.2				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		0				skin(1)	1						c.(328-330)AAC>AAT		interleukin 2 precursor							142.0	141.0	141.0					4																	123374886		2203	4300	6503	SO:0001819	synonymous_variant	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123374886G>A	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.330C>T	4.37:g.123374886G>A							p.N110N	NM_000586	NP_000577	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	3	385	-			110					P01585	Silent	SNP	ENST00000226730.4	37	c.330C>T	CCDS3726.1																																																																																				0.353	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2		
RBM46	166863	broad.mit.edu	37	4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:155719190C>T	ENST00000281722.3	+	3	614	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_ENST00000510397.1_Nonsense_Mutation_p.R127*|RBM46_ENST00000514866.1_Nonsense_Mutation_p.R127*	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	127	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338																																						uc003ioo.2																			0				central_nervous_system(1)|skin(1)	2						c.(379-381)CGA>TGA		RNA binding motif protein 46							82.0	90.0	87.0					4																	155719190		2203	4300	6503	SO:0001587	stop_gained	166863						nucleotide binding|RNA binding	g.chr4:155719190C>T	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.379C>T	4.37:g.155719190C>T	ENSP00000281722:p.Arg127*					RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	p.R127*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN			3	552	+	all_hematologic(180;0.24)	Renal(120;0.0854)	127			RRM 1.		B3KWU8|B4DZ27	Nonsense_Mutation	SNP	ENST00000281722.3	37	c.379C>T	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938892	0.73557	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	.	.	.	5.9	2.09	0.27110	.	0.054398	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4395	11.936	0.52874	0.3485:0.5395:0.112:0.0	.	.	.	.	X	127	.	ENSP00000281722:R127X	R	+	1	2	RBM46	155938640	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	2.556000	0.45862	0.067000	0.16545	0.563000	0.77884	CGA		0.338	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
GUCY1A3	2982	broad.mit.edu	37	4	156632019	156632019	+	Silent	SNP	G	G	A	rs545740746		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:156632019G>A	ENST00000296518.7	+	6	911	c.702G>A	c.(700-702)tcG>tcA	p.S234S	GUCY1A3_ENST00000513574.1_Silent_p.S234S|GUCY1A3_ENST00000511507.1_Silent_p.S234S|GUCY1A3_ENST00000511108.1_Silent_p.S234S|GUCY1A3_ENST00000455639.2_Silent_p.S234S|GUCY1A3_ENST00000506455.1_Silent_p.S234S|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	234					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGGAAGTGTCGTTAATGCCTC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.001					uc003iov.2																			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(700-702)TCG>TCA		guanylate cyclase 1, soluble, alpha 3 isoform A							124.0	117.0	119.0					4																	156632019		2203	4300	6503	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632019G>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.702G>A	4.37:g.156632019G>A						GUCY1A3_uc003iou.2_Silent_p.S234S|GUCY1A3_uc010iqc.2_Silent_p.S234S|GUCY1A3_uc003iow.2_Silent_p.S234S|GUCY1A3_uc010iqd.2_Silent_p.S233S|GUCY1A3_uc003iox.2_Silent_p.S234S|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Silent_p.S234S|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.S234S	p.S234S	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1238	+	all_hematologic(180;0.24)	Renal(120;0.0854)	234					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.702G>A	CCDS34085.1																																																																																				0.468	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
ICE1	23379	broad.mit.edu	37	5	5464633	5464633	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:5464633G>T	ENST00000296564.7	+	13	5408	c.5186G>T	c.(5185-5187)gGc>gTc	p.G1729V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1729	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCTGTGCCTGGCCGACTCCCA	0.587																																						uc003jdm.3																			0				ovary(1)|central_nervous_system(1)	2						c.(5185-5187)GGC>GTC		hypothetical protein LOC23379							43.0	45.0	44.0					5																	5464633		2079	4214	6293	SO:0001583	missense	23379							g.chr5:5464633G>T																												ENST00000296564.7:c.5186G>T	5.37:g.5464633G>T	ENSP00000296564:p.Gly1729Val						p.G1729V	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	5408	+			1729			Pro-rich.		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.5186G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517613	0.85495	.	.	ENSG00000164151	ENST00000296564	T	0.49720	0.77	5.47	5.47	0.80525	.	.	.	.	.	T	0.66287	0.2774	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68364	-0.5428	9	0.87932	D	0	-10.661	16.8165	0.85735	0.0:0.0:1.0:0.0	.	1729	Q9Y2F5	K0947_HUMAN	V	1729	ENSP00000296564:G1729V	ENSP00000296564:G1729V	G	+	2	0	KIAA0947	5517633	1.000000	0.71417	0.954000	0.39281	0.774000	0.43823	9.040000	0.93783	2.559000	0.86315	0.460000	0.39030	GGC		0.587	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
CDH9	1007	broad.mit.edu	37	5	26885950	26885950	+	Missense_Mutation	SNP	C	C	T	rs150128137		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:26885950C>T	ENST00000231021.4	-	11	1827	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R552Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCATCTTTCCGAGTCATGAT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		17451	0.0		0.001	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		prostate(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1654-1656)CGG>CAG		cadherin 9, type 2 preproprotein		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	62.0	61.0		1655	4.9	1.0	5	dbSNP_134	61	0,8600		0,0,4300	yes	missense	CDH9	NM_016279.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	552/790	26885950	1,13005	2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885950C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1655G>A	5.37:g.26885950C>T	ENSP00000231021:p.Arg552Gln					CDH9_uc011cnv.1_Missense_Mutation_p.R145Q	p.R552Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	1824	-			552			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1655G>A	CCDS3893.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.3	3.958663	0.74016	2.27E-4	0.0	ENSG00000113100	ENST00000231021	T	0.19938	2.11	5.79	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.056327	0.64402	D	0.000002	T	0.23766	0.0575	M	0.73319	2.225	0.39015	D	0.959638	B;P	0.46784	0.35;0.884	B;B	0.41332	0.206;0.354	T	0.03545	-1.1026	9	.	.	.	.	9.2761	0.37700	0.0:0.7769:0.1462:0.0769	.	145;552	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Q	552	ENSP00000231021:R552Q	.	R	-	2	0	CDH9	26921707	0.883000	0.30277	0.999000	0.59377	0.979000	0.70002	2.664000	0.46783	2.740000	0.93945	0.563000	0.77884	CGG		0.343	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
PCDHA12	56137	broad.mit.edu	37	5	140256671	140256671	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:140256671C>T	ENST00000398631.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	538	Cadherin 5. {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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0					0						c.(1612-1614)CGC>CGT		protocadherin alpha 12 isoform 1 precursor							76.0	84.0	81.0					5																	140256671		2203	4298	6501	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256671C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1614C>T	5.37:g.140256671C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.R538R	p.R538R	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1741	+			538			Cadherin 5.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1614C>T	CCDS47285.1																																																																																				0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
PPP2R2B	5521	broad.mit.edu	37	5	146030195	146030195	+	Silent	SNP	A	A	T	rs146742970	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:146030195A>T	ENST00000394413.3	-	5	1110	c.540T>A	c.(538-540)tcT>tcA	p.S180S	PPP2R2B_ENST00000394414.1_Silent_p.S246S|PPP2R2B_ENST00000453001.1_Silent_p.S180S|PPP2R2B_ENST00000394409.3_Silent_p.S238S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Silent_p.S183S|PPP2R2B_ENST00000394410.2_Silent_p.S169S|PPP2R2B_ENST00000356826.3_Silent_p.S180S|PPP2R2B_ENST00000394411.4_Silent_p.S180S|PPP2R2B_ENST00000508545.2_Silent_p.S169S|PPP2R2B_ENST00000504198.1_Silent_p.S186S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	180					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGTTGACAGATATGGAGT	0.458																																						uc003loe.2																			0				ovary(1)|prostate(1)	2						c.(538-540)TCT>TCA		beta isoform of regulatory subunit B55, protein		A	,,,,,,	0,4406		0,0,2203	237.0	196.0	210.0		540,540,540,540,549,480,507	-12.0	0.0	5	dbSNP_134	210	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	,,,,,,	0,2,6501	TT,TA,AA		0.0233,0.0,0.0154	,,,,,,	180/444,180/444,180/444,180/444,183/447,160/424,169/433	146030195	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146030195A>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.540T>A	5.37:g.146030195A>T						PPP2R2B_uc010jgm.2_Silent_p.S169S|PPP2R2B_uc003log.3_Silent_p.S180S|PPP2R2B_uc003lof.3_Silent_p.S180S|PPP2R2B_uc003loi.3_Silent_p.S183S|PPP2R2B_uc003loh.3_Silent_p.S180S|PPP2R2B_uc003loj.3_Silent_p.S160S|PPP2R2B_uc003lok.3_Silent_p.S169S|PPP2R2B_uc011dbu.1_Silent_p.S186S|PPP2R2B_uc011dbv.1_Silent_p.S238S	p.S180S	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1065	-			180			WD 3.		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.540T>A	CCDS4284.1																																																																																				0.458	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678	
FAM71B	153745	broad.mit.edu	37	5	156589483	156589483	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:156589483A>G	ENST00000302938.4	-	2	1888	c.1793T>C	c.(1792-1794)aTc>aCc	p.I598T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	598						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAAGACGATCATCTCCGT	0.517																																						uc003lwn.2																			0		p.I598I(1)		ovary(4)|pancreas(1)|skin(1)	6						c.(1792-1794)ATC>ACC		family with sequence similarity 71, member B							183.0	182.0	183.0					5																	156589483		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589483A>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1793T>C	5.37:g.156589483A>G	ENSP00000305596:p.Ile598Thr						p.I598T	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1893	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	598					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1793T>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	9.062	0.994834	0.19043	.	.	ENSG00000170613	ENST00000302938	T	0.20069	2.1	4.13	2.98	0.34508	.	0.000000	0.44097	D	0.000499	T	0.15565	0.0375	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.16928	-1.0386	10	0.54805	T	0.06	-26.0266	6.5487	0.22420	0.892:0.0:0.108:0.0	.	598	Q8TC56	FA71B_HUMAN	T	598	ENSP00000305596:I598T	ENSP00000305596:I598T	I	-	2	0	FAM71B	156522061	0.040000	0.19996	0.007000	0.13788	0.023000	0.10783	2.274000	0.43390	0.923000	0.37045	-0.274000	0.10170	ATC		0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:43403588C>T	ENST00000372530.4	+	5	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTTGGACCGGATCCAGCT	0.567																																						uc003ouy.1																			0				ovary(6)|central_nervous_system(1)	7						c.(1708-1710)CGG>TGG		ATP-binding cassette, sub-family C, member 10							114.0	102.0	106.0					6																	43403588		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403588C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1708C>T	6.37:g.43403588C>T	ENSP00000361608:p.Arg570Trp					ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	p.R570W	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		5	1923	+	all_lung(25;0.00536)		570					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1708C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392994	0.83011	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97279	-4.32;-3.98;-3.98	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:1.0:0.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	126;570;527	ENSP00000361593:R126W;ENSP00000361608:R570W;ENSP00000244533:R527W	ENSP00000244533:R527W	R	+	1	2	ABCC10	43511566	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.776000	0.55356	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
PKHD1	5314	broad.mit.edu	37	6	51523897	51523897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:51523897C>T	ENST00000371117.3	-	61	11302	c.11027G>A	c.(11026-11028)gGa>gAa	p.G3676E		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3676					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAAATCATTCCAGTGCTCCT	0.403																																						uc003pah.1																			0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11026-11028)GGA>GAA		fibrocystin isoform 1							175.0	162.0	167.0					6																	51523897		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51523897C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11027G>A	6.37:g.51523897C>T	ENSP00000360158:p.Gly3676Glu						p.G3676E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	11303	-	Lung NSC(77;0.0605)		3676			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11027G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.346481	0.00219	.	.	ENSG00000170927	ENST00000371117	D	0.85258	-1.96	6.03	1.61	0.23674	.	0.868203	0.10263	N	0.695757	T	0.51024	0.1650	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38845	-0.9642	10	0.10902	T	0.67	.	5.829	0.18570	0.149:0.5654:0.0:0.2856	.	3676	P08F94	PKHD1_HUMAN	E	3676	ENSP00000360158:G3676E	ENSP00000360158:G3676E	G	-	2	0	PKHD1	51631856	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.074000	0.11450	0.387000	0.25024	-0.274000	0.10170	GGA		0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
ZNF292	23036	broad.mit.edu	37	6	87865454	87865454	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:87865454G>T	ENST00000369577.3	+	1	188	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.D49Y|RP11-393I2.4_ENST00000606274.1_RNA|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000392985.3_Missense_Mutation_p.D49Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	49						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCGGCCACCGACTACTGTCA	0.726																																						uc003plm.3																			0				ovary(4)	4						c.(145-147)GAC>TAC		zinc finger protein 292							7.0	10.0	9.0					6																	87865454		1858	4036	5894	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87865454G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.145G>T	6.37:g.87865454G>T	ENSP00000358590:p.Asp49Tyr					ZNF292_uc003plk.2_RNA|ZNF292_uc003pll.1_Missense_Mutation_p.D49Y	p.D49Y	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	1	186	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	49					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.145G>T	CCDS47457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.824502|2.824502	0.50739|0.50739	.|.	.|.	ENSG00000188994|ENSG00000188994	ENST00000392985;ENST00000369577;ENST00000518845;ENST00000339907|ENST00000496806	T;T|T	0.07021|0.55413	3.23;3.24|0.52	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	.|.	.|.	.|.	.|.	T|T	0.27832|0.27832	0.0685|0.0685	N|N	0.08118|0.08118	0|0	0.30415|0.30415	N|N	0.778688|0.778688	B;B|.	0.15719|.	0.009;0.014|.	B;B|.	0.08055|.	0.003;0.003|.	T|T	0.40156|0.40156	-0.9578|-0.9578	9|7	0.72032|0.46703	D|T	0.01|0.11	.|.	17.4216|17.4216	0.87516|0.87516	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49;49|.	O60281;Q6ZW83|.	ZN292_HUMAN;.|.	Y|L	49|39	ENSP00000358590:D49Y;ENSP00000342847:D49Y|ENSP00000428857:R39L	ENSP00000342847:D49Y|ENSP00000428857:R39L	D|R	+|+	1|2	0|0	ZNF292|ZNF292	87922173|87922173	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.970000|0.970000	0.65996|0.65996	4.061000|4.061000	0.57485|0.57485	2.330000|2.330000	0.79161|0.79161	0.549000|0.549000	0.68633|0.68633	GAC|CGA		0.726	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
GPR6	2830	broad.mit.edu	37	6	110300407	110300407	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:110300407C>T	ENST00000275169.3	+	1	110	c.92C>T	c.(91-93)cCg>cTg	p.P31L	GPR6_ENST00000414000.2_Missense_Mutation_p.P46L	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	31					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		gcaggggggccggACACGGGC	0.736																																						uc011eaw.1																			0					0						c.(91-93)CCG>CTG		G protein-coupled receptor 6							15.0	21.0	19.0					6																	110300407		1780	3779	5559	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110300407C>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.92C>T	6.37:g.110300407C>T	ENSP00000275169:p.Pro31Leu					GPR6_uc011eav.1_Missense_Mutation_p.P46L|GPR6_uc003ptu.2_Missense_Mutation_p.P31L	p.P31L	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	272	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	31			Extracellular (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.92C>T	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546500	0.27652	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.71934	-0.61;-0.58	4.65	3.78	0.43462	.	.	.	.	.	T	0.29355	0.0731	N	0.08118	0	0.37774	D	0.92678	B;B	0.15141	0.012;0.003	B;B	0.10450	0.005;0.001	T	0.16928	-1.0386	9	0.49607	T	0.09	.	5.8366	0.18611	0.0:0.5794:0.3007:0.1199	.	46;31	B4DHS9;P46095	.;GPR6_HUMAN	L	31;46;31	ENSP00000406986:P46L;ENSP00000275169:P31L	ENSP00000275169:P31L	P	+	2	0	GPR6	110407100	0.000000	0.05858	0.559000	0.28332	0.005000	0.04900	-0.314000	0.08092	1.159000	0.42565	0.563000	0.77884	CCG		0.736	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1		
EGFR	1956	broad.mit.edu	37	7	55221722	55221722	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:55221722G>T	ENST00000275493.2	+	7	943	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	EGFR_ENST00000342916.3_Missense_Mutation_p.D256Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D203Y|EGFR_ENST00000344576.2_Missense_Mutation_p.D256Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D256Y|EGFR_ENST00000455089.1_Missense_Mutation_p.D211Y|EGFR_ENST00000442591.1_Missense_Mutation_p.D256Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	256			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAATTCCGAGACGAAGCCAC	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)|p.D256A(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(766-768)GAC>TAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						199.0	157.0	171.0					7																	55221722		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221722G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.766G>T	7.37:g.55221722G>T	ENSP00000275493:p.Asp256Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.D256Y|EGFR_uc003tqi.2_Missense_Mutation_p.D256Y|EGFR_uc003tqj.2_Missense_Mutation_p.D256Y|EGFR_uc010kzg.1_Missense_Mutation_p.D211Y|EGFR_uc011kco.1_Missense_Mutation_p.D203Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.D256Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1012	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		256			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.766G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637756	0.67130	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.999;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.927;0.976;1.0;0.998;0.944	T	0.75557	-0.3276	10	0.62326	D	0.03	.	18.6435	0.91402	0.0:0.0:1.0:0.0	.	211;256;256;256;256	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	211;256;126;256;256;256;256;203;50	ENSP00000415559:D211Y;ENSP00000342376:D256Y;ENSP00000345973:D256Y;ENSP00000413843:D256Y;ENSP00000275493:D256Y;ENSP00000410031:D256Y;ENSP00000395243:D203Y	ENSP00000275493:D256Y	D	+	1	0	EGFR	55189216	1.000000	0.71417	0.991000	0.47740	0.226000	0.24999	7.970000	0.88000	2.752000	0.94435	0.467000	0.42956	GAC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
MYL10	93408	broad.mit.edu	37	7	101256837	101256837	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:101256837G>A	ENST00000223167.4	-	8	776	c.599C>T	c.(598-600)gCa>gTa	p.A200V		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	200	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GGGAAATGCTGCAAACATCTG	0.562																																					Esophageal Squamous(24;575 709 17516 40384 51639)	uc003uyr.2																			0				ovary(1)|breast(1)	2						c.(598-600)GCA>GTA		myosin, light chain 10, regulatory							141.0	120.0	127.0					7																	101256837		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101256837G>A	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.599C>T	7.37:g.101256837G>A	ENSP00000223167:p.Ala200Val						p.A200V	NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN			8	777	-			200			EF-hand 3.			Missense_Mutation	SNP	ENST00000223167.4	37	c.599C>T	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156223	0.38021	.	.	ENSG00000106436	ENST00000223167	T	0.79554	-1.28	4.84	3.95	0.45737	EF-hand-like domain (1);	0.153523	0.40144	N	0.001180	T	0.81908	0.4922	M	0.82323	2.585	0.34076	D	0.659001	B	0.26120	0.142	B	0.30179	0.112	D	0.85013	0.0907	10	0.59425	D	0.04	.	12.3057	0.54900	0.0:0.0:0.8294:0.1706	.	200	Q9BUA6	MYL10_HUMAN	V	200	ENSP00000223167:A200V	ENSP00000223167:A200V	A	-	2	0	MYL10	101043557	0.995000	0.38212	0.776000	0.31678	0.422000	0.31414	5.308000	0.65768	1.021000	0.39600	0.650000	0.86243	GCA		0.562	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403	
PTPRZ1	5803	broad.mit.edu	37	7	121653409	121653409	+	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:121653409T>A	ENST00000393386.2	+	12	4720	c.4309T>A	c.(4309-4311)Tta>Ata	p.L1437I	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1437					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTGATGGCTTATCCATTCA	0.418																																						uc003vjy.2																			0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(4309-4311)TTA>ATA		protein tyrosine phosphatase, receptor-type,							81.0	73.0	76.0					7																	121653409		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121653409T>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4309T>A	7.37:g.121653409T>A	ENSP00000377047:p.Leu1437Ile					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.L1437I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	4704	+			1437			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4309T>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458722	0.26248	.	.	ENSG00000106278	ENST00000393386	T	0.49432	0.78	5.61	0.183	0.15082	.	0.622969	0.14650	N	0.306665	T	0.35098	0.0920	L	0.51422	1.61	0.45883	D	0.998738	B	0.06786	0.001	B	0.10450	0.005	T	0.08576	-1.0715	10	0.38643	T	0.18	.	3.6127	0.08066	0.0978:0.1196:0.202:0.5806	.	1437	P23471	PTPRZ_HUMAN	I	1437	ENSP00000377047:L1437I	ENSP00000377047:L1437I	L	+	1	2	PTPRZ1	121440645	0.920000	0.31207	0.118000	0.21660	0.933000	0.57130	0.422000	0.21296	-0.397000	0.07691	-1.162000	0.01777	TTA		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
UBE3C	9690	broad.mit.edu	37	7	157046771	157046771	+	Missense_Mutation	SNP	C	C	T	rs142140245		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:157046771C>T	ENST00000348165.5	+	20	3178	c.2818C>T	c.(2818-2820)Cgc>Tgc	p.R940C		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	940	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTGGCTTTCCGCCAGGGCCT	0.562																																						uc010lqs.2																			0				ovary(2)|lung(2)|large_intestine(1)	5						c.(2818-2820)CGC>TGC		ubiquitin protein ligase E3C		C	CYS/ARG	0,4406		0,0,2203	56.0	53.0	54.0		2818	-2.1	0.1	7	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBE3C	NM_014671.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	940/1084	157046771	1,13005	2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157046771C>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2818C>T	7.37:g.157046771C>T	ENSP00000309198:p.Arg940Cys					UBE3C_uc003wni.3_Missense_Mutation_p.R303C	p.R940C	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	20	3130	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	940			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.2818C>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996753	0.54147	0.0	1.16E-4	ENSG00000009335	ENST00000348165	T	0.51325	0.71	5.31	-2.06	0.07298	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.75448	-0.3314	10	0.52906	T	0.07	.	19.4155	0.94694	0.7469:0.2531:0.0:0.0	.	940;793	Q15386;B4DHJ9	UBE3C_HUMAN;.	C	940	ENSP00000309198:R940C	ENSP00000309198:R940C	R	+	1	0	UBE3C	156739532	0.993000	0.37304	0.088000	0.20740	0.667000	0.39255	0.377000	0.20552	-0.544000	0.06232	-1.014000	0.02459	CGC		0.562	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
ADAM28	10863	broad.mit.edu	37	8	24200682	24200682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:24200682C>A	ENST00000265769.4	+	17	2009	c.1899C>A	c.(1897-1899)tgC>tgA	p.C633*	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Nonsense_Mutation_p.C380*	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	633	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CATCTAAGTGCAAAGGACATG	0.358																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2																			0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(1897-1899)TGC>TGA		ADAM metallopeptidase domain 28 isoform 1							129.0	118.0	122.0					8																	24200682		2203	4300	6503	SO:0001587	stop_gained	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24200682C>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1899C>A	8.37:g.24200682C>A	ENSP00000265769:p.Cys633*					ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Nonsense_Mutation_p.C320*	p.C633*	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	17	1982	+		Prostate(55;0.0959)	633			EGF-like.|Extracellular (Potential).		B2RMV5|Q9Y339|Q9Y3S0	Nonsense_Mutation	SNP	ENST00000265769.4	37	c.1899C>A	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.855502|5.855502	0.97030|0.97030	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649|ENST00000521629;ENST00000518326	.|.	.|.	.|.	5.36|5.36	3.54|3.54	0.40534|0.40534	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50939	.|0.1645	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60347	.|-0.7281	.|3	0.02654|.	T|.	1|.	.|.	9.0962|9.0962	0.36640|0.36640	0.0:0.8224:0.0:0.1776|0.0:0.8224:0.0:0.1776	.|.	.|.	.|.	.|.	X|K	633;380|266;59	.|.	ENSP00000265769:C633X|.	C|Q	+|+	3|1	2|0	ADAM28|ADAM28	24256627|24256627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	1.395000|1.395000	0.34520|0.34520	1.252000|1.252000	0.44001|0.44001	0.655000|0.655000	0.94253|0.94253	TGC|CAA		0.358	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
DOCK5	80005	broad.mit.edu	37	8	25203034	25203034	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:25203034C>T	ENST00000276440.7	+	26	2705	c.2661C>T	c.(2659-2661)agC>agT	p.S887S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	887					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACCAGCTCAGCGGCCAGTTAG	0.557																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(2659-2661)AGC>AGT		dedicator of cytokinesis 5							131.0	113.0	119.0					8																	25203034		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25203034C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2661C>T	8.37:g.25203034C>T						DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.S601S|DOCK5_uc003xei.2_Silent_p.S457S|DOCK5_uc003xej.2_RNA	p.S887S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	26	2798	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	887					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.2661C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248243	0.22880	.	.	ENSG00000147459	ENST00000444569	.	.	.	6.17	-1.06	0.10002	.	.	.	.	.	T	0.65863	0.2732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63703	-0.6577	4	.	.	.	.	14.3278	0.66532	0.0:0.5495:0.0:0.4505	.	.	.	.	W	659	.	.	R	+	1	2	DOCK5	25258951	0.572000	0.26668	0.990000	0.47175	0.964000	0.63967	-0.220000	0.09215	-0.237000	0.09739	-0.940000	0.02684	CGG		0.557	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
TGS1	96764	broad.mit.edu	37	8	56699365	56699365	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:56699365A>G	ENST00000260129.5	+	4	1385	c.908A>G	c.(907-909)gAt>gGt	p.D303G		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	303					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTATGGTTGATAATGATAGC	0.333																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3																			0				ovary(1)|lung(1)|breast(1)	3						c.(907-909)GAT>GGT		trimethylguanosine synthase homolog							84.0	81.0	82.0					8																	56699365		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699365A>G	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.908A>G	8.37:g.56699365A>G	ENSP00000260129:p.Asp303Gly					TGS1_uc010lyh.2_Missense_Mutation_p.D207G	p.D303G	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1295	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	303					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.908A>G	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	9.002	0.980463	0.18812	.	.	ENSG00000137574	ENST00000260129	T	0.17054	2.3	5.79	0.242	0.15498	.	1.296980	0.04813	N	0.435605	T	0.06325	0.0163	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	10	0.23891	T	0.37	-0.6466	9.2276	0.37416	0.5193:0.0:0.4807:0.0	.	303;303	B2RBJ7;Q96RS0	.;TGS1_HUMAN	G	303	ENSP00000260129:D303G	ENSP00000260129:D303G	D	+	2	0	TGS1	56861919	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.080000	0.11339	-0.263000	0.09378	0.533000	0.62120	GAT		0.333	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
SYBU	55638	broad.mit.edu	37	8	110588241	110588241	+	Splice_Site	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:110588241C>A	ENST00000422135.1	-	8	1401	c.886G>T	c.(886-888)Gaa>Taa	p.E296*	SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000446070.2_Splice_Site_p.E295*|SYBU_ENST00000533895.1_Splice_Site_p.E295*|SYBU_ENST00000433638.1_Splice_Site_p.E296*|SYBU_ENST00000399066.3_Splice_Site_p.E293*|SYBU_ENST00000424158.2_Splice_Site_p.E301*|SYBU_ENST00000533171.1_Splice_Site_p.E296*|SYBU_ENST00000529690.1_Splice_Site_p.E166*|SYBU_ENST00000533065.1_Splice_Site_p.E177*|SYBU_ENST00000276646.9_Splice_Site_p.E296*|SYBU_ENST00000532779.1_Splice_Site_p.E228*|SYBU_ENST00000529175.1_Splice_Site_p.E90*|SYBU_ENST00000419099.1_Splice_Site_p.E295*|SYBU_ENST00000528647.1_Splice_Site_p.E295*|SYBU_ENST00000408889.3_Splice_Site_p.E177*|SYBU_ENST00000528331.1_Splice_Site_p.E177*|SYBU_ENST00000440310.1_Splice_Site_p.E296*|SYBU_ENST00000408908.2_Splice_Site_p.E296*	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	296	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATTTCACTTTCCCTAGAGTGC	0.463																																						uc003ynj.3																			0				ovary(1)	1						c.(886-888)GAA>TAA		Golgi-localized syntaphilin-related protein							41.0	40.0	40.0					8																	110588241		1931	4166	6097	SO:0001630	splice_region_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588241C>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.885-1G>T	8.37:g.110588241C>A						SYBU_uc003yni.3_Nonsense_Mutation_p.E293*|SYBU_uc003ynk.3_Nonsense_Mutation_p.E177*|SYBU_uc010mco.2_Nonsense_Mutation_p.E295*|SYBU_uc003ynl.3_Nonsense_Mutation_p.E295*|SYBU_uc010mcp.2_Nonsense_Mutation_p.E296*|SYBU_uc010mcq.2_Nonsense_Mutation_p.E296*|SYBU_uc003yno.3_Nonsense_Mutation_p.E177*|SYBU_uc010mcr.2_Nonsense_Mutation_p.E296*|SYBU_uc003ynm.3_Nonsense_Mutation_p.E295*|SYBU_uc003ynn.3_Nonsense_Mutation_p.E295*|SYBU_uc010mcs.2_Nonsense_Mutation_p.E177*|SYBU_uc010mct.2_Nonsense_Mutation_p.E296*|SYBU_uc010mcu.2_Nonsense_Mutation_p.E295*|SYBU_uc003ynp.3_Nonsense_Mutation_p.E228*|SYBU_uc010mcv.2_Nonsense_Mutation_p.E296*|SYBU_uc003ynh.3_Nonsense_Mutation_p.E90*|SYBU_uc011lhw.1_Nonsense_Mutation_p.E166*	p.E296*	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			7	1049	-			296			Potential.|Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Nonsense_Mutation	SNP	ENST00000422135.1	37	c.886G>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	39	7.808101	0.98501	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171;ENST00000533394	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.0219	19.2586	0.93957	0.0:1.0:0.0:0.0	.	.	.	.	X	295;301;228;293;295;177;90;296;295;296;295;296;296;296;177;177;166;296;133	.	ENSP00000276646:E296X	E	-	1	0	SYBU	110657417	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	5.963000	0.70372	2.793000	0.96121	0.591000	0.81541	GAA		0.463	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786	Nonsense_Mutation
RFX3	5991	broad.mit.edu	37	9	3225104	3225104	+	Missense_Mutation	SNP	C	C	T	rs137899630		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:3225104C>T	ENST00000382004.3	-	18	2499	c.2188G>A	c.(2188-2190)Gtc>Atc	p.V730I		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	730					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTACTTGTGACAATGTGCTCG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19037	0.0		0.001	False		,,,				2504	0.0					uc003zhr.2																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2188-2190)GTC>ATC		regulatory factor X3 isoform b		C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	132.0	119.0	123.0		2188	5.7	1.0	9	dbSNP_134	123	21,8579	15.3+/-51.7	0,21,4279	yes	missense	RFX3	NM_134428.1	29	0,23,6480	TT,TC,CC		0.2442,0.0454,0.1768	benign	730/750	3225104	23,12983	2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3225104C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2188G>A	9.37:g.3225104C>T	ENSP00000371434:p.Val730Ile					RFX3_uc010mhd.2_Missense_Mutation_p.V730I	p.V730I	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	18	2500	-			730					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.2188G>A	CCDS6449.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.03	1.816863	0.32145	4.54E-4	0.002442	ENSG00000080298	ENST00000382004	T	0.58797	0.31	5.7	5.7	0.88788	.	0.135852	0.50627	D	0.000115	T	0.51346	0.1669	L	0.36672	1.1	0.80722	D	1	B	0.25667	0.131	B	0.16722	0.016	T	0.44802	-0.9304	10	0.46703	T	0.11	-13.1442	19.8344	0.96650	0.0:1.0:0.0:0.0	.	730	P48380	RFX3_HUMAN	I	730	ENSP00000371434:V730I	ENSP00000371434:V730I	V	-	1	0	RFX3	3215104	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	2.155000	0.42301	2.686000	0.91538	0.643000	0.83706	GTC		0.478	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919	
SPATA31D1	389763	broad.mit.edu	37	9	84609494	84609494	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:84609494A>G	ENST00000344803.2	+	4	4156	c.4109A>G	c.(4108-4110)gAa>gGa	p.E1370G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1370					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATATGAAGAACAAGAAAGT	0.433																																						uc004amn.2																			0					0						c.(4108-4110)GAA>GGA		hypothetical protein LOC389763							28.0	25.0	26.0					9																	84609494		1837	4082	5919	SO:0001583	missense	389763					integral to membrane		g.chr9:84609494A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4109A>G	9.37:g.84609494A>G	ENSP00000341988:p.Glu1370Gly						p.E1370G	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	4156	+			1370						Missense_Mutation	SNP	ENST00000344803.2	37	c.4109A>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	4.295	0.053987	0.08291	.	.	ENSG00000214929	ENST00000344803	T	0.04917	3.53	3.23	-6.46	0.01908	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44772	-0.9306	9	0.21014	T	0.42	1.7861	0.4783	0.00543	0.3875:0.1323:0.1782:0.302	.	1370	Q6ZQQ2	F75D1_HUMAN	G	1370	ENSP00000341988:E1370G	ENSP00000341988:E1370G	E	+	2	0	FAM75D1	83799314	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.380000	0.07427	-1.637000	0.01531	-1.074000	0.02243	GAA		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
CACNA1B	774	broad.mit.edu	37	9	140904511	140904511	+	Silent	SNP	C	C	T	rs570622319		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:140904511C>T	ENST00000371372.1	+	17	2287	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CACNA1B_ENST00000277550.3_Silent_p.N5N|CACNA1B_ENST00000277551.2_Silent_p.N714N|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.N714N|CACNA1B_ENST00000371355.4_Silent_p.N715N|CACNA1B_ENST00000371357.1_Silent_p.N715N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	714					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTGGCCAACGCCCAAGAGC	0.607																																						uc004cog.2																			0				breast(3)|large_intestine(2)|ovary(1)	6						c.(2140-2142)AAC>AAT		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						71.0	75.0	74.0					9																	140904511		2165	4268	6433	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140904511C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2142C>T	9.37:g.140904511C>T						CACNA1B_uc011mfd.1_Silent_p.N245N	p.N714N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	17	2287	+	all_cancers(76;0.166)		714			Cytoplasmic (Potential).		B1AQK5	Silent	SNP	ENST00000371372.1	37	c.2142C>T	CCDS59522.1																																																																																				0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
VCX2	51480	broad.mit.edu	37	X	8138151	8138151	+	Silent	SNP	C	C	T	rs202165418		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:8138151C>T	ENST00000317103.4	-	3	648	c.342G>A	c.(340-342)ctG>ctA	p.L114L		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	114	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TCTCCTGACTCAGTGGTTCTT	0.642																																						uc004csb.2																			0					0						c.(340-342)CTG>CTA		variable charge, X-linked 2		C		2,3826		0,2,1629,566	64.0	69.0	67.0		342	-0.1	0.0	X		67	0,6708		0,0,2424,1860	no	coding-synonymous	VCX2	NM_016378.2		0,2,4053,2426	TT,TC,CC,C		0.0,0.0522,0.019		114/140	8138151	2,10534	2197	4284	6481	SO:0001819	synonymous_variant	51480							g.chrX:8138151C>T	AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.342G>A	X.37:g.8138151C>T							p.L114L	NM_016378	NP_057462	Q9H322	VCX2_HUMAN			3	649	-		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	114			2.|2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		A3KPB6|Q4V9T2|Q9P0H5	Silent	SNP	ENST00000317103.4	37	c.342G>A	CCDS35200.1																																																																																				0.642	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378	
PHEX	5251	broad.mit.edu	37	X	22112133	22112133	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:22112133T>C	ENST00000379374.4	+	7	1330	c.765T>C	c.(763-765)gaT>gaC	p.D255D	PHEX_ENST00000537599.1_Silent_p.D255D|PHEX_ENST00000535894.1_Silent_p.D158D|PHEX_ENST00000475778.1_3'UTR	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	255					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCATGGTGGATACTGCCGTGC	0.408																																						uc004dah.2																			0				ovary(2)|lung(1)	3						c.(763-765)GAT>GAC		phosphate-regulating neutral endopeptidase							167.0	153.0	158.0					X																	22112133		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22112133T>C	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.765T>C	X.37:g.22112133T>C						PHEX_uc011mjr.1_Silent_p.D255D|PHEX_uc011mjs.1_Silent_p.D158D	p.D255D	NM_000444	NP_000435	P78562	PHEX_HUMAN			7	968	+			255			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.765T>C	CCDS14204.1																																																																																				0.408	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
BCOR	54880	broad.mit.edu	37	X	39922999	39923002	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:39922999_39923002delCTTC	ENST00000378444.4	-	8	3934_3937	c.3706_3709delGAAG	c.(3706-3711)gaagtgfs	p.EV1236fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.EV1202fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.EV1184fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.EV1202fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.EV79fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1236					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCCTGGGTCACTTCCTTCCTGCTT	0.559			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(3706-3711)GAAGTGfs		BCL-6 interacting corepressor isoform c																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922999_39923002delCTTC	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3706_3709delGAAG	X.37:g.39923003_39923006delCTTC	ENSP00000367705:p.Glu1236fs					BCOR_uc004dep.3_Frame_Shift_Del_p.E1202fs|BCOR_uc004deo.3_Frame_Shift_Del_p.E1184fs|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Frame_Shift_Del_p.E1202fs	p.E1236fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			8	3998_4001	-			1236_1237					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.3706_3709delGAAG	CCDS48093.1																																																																																				0.559	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
SLC9A7	84679	broad.mit.edu	37	X	46618211	46618211	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:46618211A>T	ENST00000328306.4	-	1	279	c.254T>A	c.(253-255)aTc>aAc	p.I85N		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	85					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATGGTGAGGATGGTGAGCGT	0.632																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1																			0				ovary(2)	2						c.(253-255)ATC>AAC		solute carrier family 9, member 7							60.0	41.0	47.0					X																	46618211		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46618211A>T	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.254T>A	X.37:g.46618211A>T	ENSP00000330320:p.Ile85Asn					SLC9A7_uc004dgv.1_Missense_Mutation_p.I85N	p.I85N	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			1	262	-			85			Helical; (Potential).		O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.254T>A	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457394	0.84317	.	.	ENSG00000065923	ENST00000328306	T	0.16324	2.35	4.63	4.63	0.57726	Cation/H+ exchanger (1);	0.793406	0.12179	N	0.492283	T	0.46658	0.1404	M	0.84585	2.705	0.58432	D	0.999999	D	0.63880	0.993	D	0.70716	0.97	T	0.45948	-0.9226	10	0.87932	D	0	.	13.2051	0.59790	1.0:0.0:0.0:0.0	.	85	Q96T83	SL9A7_HUMAN	N	85	ENSP00000330320:I85N	ENSP00000330320:I85N	I	-	2	0	SLC9A7	46503155	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.966000	0.87956	1.845000	0.53610	0.372000	0.22366	ATC		0.632	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591	
HUWE1	10075	broad.mit.edu	37	X	53600812	53600812	+	Silent	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:53600812A>G	ENST00000342160.3	-	46	6667	c.6210T>C	c.(6208-6210)acT>acC	p.T2070T	HUWE1_ENST00000262854.6_Silent_p.T2070T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2070					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACGAAGGATAGTGGAGGTAG	0.502																																						uc004dsp.2																			0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(6208-6210)ACT>ACC		HECT, UBA and WWE domain containing 1							241.0	179.0	200.0					X																	53600812		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53600812A>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6210T>C	X.37:g.53600812A>G						HUWE1_uc004dsn.2_Silent_p.T894T	p.T2070T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			47	6612	-			2070					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.6210T>C	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471816	0.26423	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.89	4.76	0.60689	.	.	.	.	.	T	0.48150	0.1484	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49194	-0.8965	4	.	.	.	.	3.5753	0.07932	0.6584:0.0:0.3416:0.0	.	.	.	.	H	1104	.	.	Y	-	1	0	HUWE1	53617537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.262000	0.58847	1.981000	0.57761	0.441000	0.28932	TAT		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
POF1B	79983	broad.mit.edu	37	X	84634246	84634246	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:84634246G>A	ENST00000262753.4	-	2	359	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	POF1B_ENST00000373145.3_Missense_Mutation_p.R72W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	72						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCACTTCCCGTGAGTTGAAG	0.517																																						uc004eer.2																			0					0						c.(214-216)CGG>TGG		premature ovarian failure, 1B							109.0	86.0	94.0					X																	84634246		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84634246G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.214C>T	X.37:g.84634246G>A	ENSP00000262753:p.Arg72Trp					POF1B_uc004ees.2_Missense_Mutation_p.R72W	p.R72W	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			2	360	-			72					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.214C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.208893	0.22205	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.12465	2.69;2.68	5.67	3.87	0.44632	.	1.262040	0.05755	N	0.603852	T	0.13670	0.0331	N	0.14661	0.345	0.09310	N	1	D;D	0.54772	0.968;0.968	P;P	0.47015	0.534;0.534	T	0.39820	-0.9595	10	0.66056	D	0.02	.	10.5581	0.45129	0.0:0.0:0.6498:0.3502	.	72;72	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	W	72	ENSP00000262753:R72W;ENSP00000362238:R72W	ENSP00000262753:R72W	R	-	1	2	POF1B	84520902	0.821000	0.29204	0.009000	0.14445	0.006000	0.05464	1.955000	0.40372	0.530000	0.28619	-0.293000	0.09583	CGG		0.517	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921	
AGTR2	186	broad.mit.edu	37	X	115303791	115303791	+	Silent	SNP	C	C	T	rs13306157		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:115303791C>T	ENST00000371906.4	+	3	448	c.258C>T	c.(256-258)ctC>ctT	p.L86L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	86					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TCTTCAACCTCGCTGTGGCTG	0.378													C|||	2	0.000529801	0.0	0.0	3775	,	,		15158	0.002		0.0	False		,,,				2504	0.0					uc004eqh.3																			0				ovary(2)|lung(1)	3						c.(256-258)CTC>CTT		angiotensin II receptor, type 2							205.0	197.0	200.0					X																	115303791		2203	4300	6503	SO:0001819	synonymous_variant	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115303791C>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.258C>T	X.37:g.115303791C>T							p.L86L	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	465	+			86			Helical; Name=2; (Potential).		B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	c.258C>T	CCDS14569.1																																																																																				0.378	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686	
MAGEA5	4104	broad.mit.edu	37	X	151283685	151283685	+	RNA	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:151283685T>A	ENST00000509345.2	-	0	651																											ACCTTCTTACTGAGTGCTGCT	0.488																																						uc004ffj.2																			0					0						c.(328-330)AGT>TGT		melanoma antigen family A, 5							96.0	89.0	91.0					X																	151283685		2203	4300	6503			4104							g.chrX:151283685T>A																													X.37:g.151283685T>A							p.S110C	NM_021049	NP_066387	P43359	MAGA5_HUMAN			3	533	-	Acute lymphoblastic leukemia(192;6.56e-05)		110			MAGE.			Missense_Mutation	SNP	ENST00000509345.2	37	c.328A>T																																																																																					0.488	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1		
