#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
EPHA10	284656	broad.mit.edu	37	1	38227511	38227511	+	Missense_Mutation	SNP	C	C	T	rs370045860		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:38227511C>T	ENST00000373048.4	-	3	415	c.416G>A	c.(415-417)cGt>cAt	p.R139H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R139H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R139H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	139	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.R139H(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGCCCACGGCCCAGGTC	0.657																																						uc009vvi.3																			1	Substitution - Missense(1)	p.R139H(2)	endometrium(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(415-417)cGt>cAt		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	39.0	45.0	43.0		416,416	2.8	0.9	1		43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHA10	NM_001099439.1,NM_173641.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	139/1009,139/296	38227511	1,13005	2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227511C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.416G>A	1.37:g.38227511C>T	ENSP00000362139:p.Arg139His					EPHA10_uc001cbw.4_Missense_Mutation_p.R139H	p.R139H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	502	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	139					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.416G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292528	0.40594	0.0	1.16E-4	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03689	3.84;3.84;3.84	4.75	2.84	0.33178	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.186987	0.26489	N	0.024100	T	0.04452	0.0122	L	0.58101	1.795	0.42271	D	0.992052	B;B	0.18863	0.031;0.008	B;B	0.09377	0.003;0.004	T	0.30563	-0.9974	10	0.66056	D	0.02	.	4.8612	0.13585	0.1546:0.606:0.0:0.2394	.	139;139	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	139	ENSP00000397746:R139H;ENSP00000362139:R139H;ENSP00000316395:R139H	ENSP00000316395:R139H	R	-	2	0	EPHA10	38000098	0.009000	0.17119	0.850000	0.33497	0.906000	0.53458	0.326000	0.19646	0.682000	0.31407	0.643000	0.83706	CGT		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
SZT2	23334	broad.mit.edu	37	1	43905598	43905598	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:43905598G>A	ENST00000562955.1	+	50	6918	c.6918G>A	c.(6916-6918)ggG>ggA	p.G2306G	SZT2_ENST00000372442.1_Silent_p.G1464G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2363					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGAAAAGGGGAACATTAGTA	0.567																																						uc001cjk.2																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4390-4392)ggG>ggA		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							83.0	86.0	85.0					1																	43905598		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43905598G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6918G>A	1.37:g.43905598G>A							p.G1464G	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			49	7002	+			2363					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.4392G>A	CCDS30694.2																																																																																				0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
DAB1	1600	broad.mit.edu	37	1	57535099	57535099	+	Splice_Site	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:57535099C>T	ENST00000371231.1	-	7	632		c.e7-1		DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371236.2_Splice_Site|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACACAATGTACTATTACAGGA	0.413																																						uc009vzx.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.e8-1		Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.							103.0	97.0	99.0					1																	57535099		2203	4300	6503	SO:0001630	splice_region_variant	1600				cell differentiation|nervous system development			g.chr1:57535099C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.598-1G>A	1.37:g.57535099C>T						DAB1_uc001cyt.1_Splice_Site_p.Y200_splice|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Splice_Site_p.Y200_splice	p.Y200_splice	NM_021080	NP_066566	O75553	DAB1_HUMAN			8	918	-			200					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Splice_Site	SNP	ENST00000371231.1	37	c.598_splice		.	.	.	.	.	.	.	.	.	.	C	27.7	4.854344	0.91355	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000371231	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DAB1	57307687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.882000	0.98803	0.655000	0.94253	.		0.413	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	Intron
FPGT	8790	broad.mit.edu	37	1	74665467	74665467	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:74665467C>T	ENST00000609362.1	+	2	239	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	FPGT_ENST00000482102.2_Missense_Mutation_p.L90F|FPGT_ENST00000534056.1_Missense_Mutation_p.L68F|LRRIQ3_ENST00000354431.4_5'Flank|FPGT_ENST00000370898.3_Missense_Mutation_p.L81F|LRRIQ3_ENST00000370911.3_5'Flank|LRRIQ3_ENST00000370909.2_5'Flank|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000524915.1_3'UTR|FPGT_ENST00000370894.5_Missense_Mutation_p.L68F|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.L68F|TNNI3K_ENST00000370891.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.L81F|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.L68F|FPGT_ENST00000467578.2_Missense_Mutation_p.L81F|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.L68F	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	68					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GGAGTTACCCCTTGGAGTTCA	0.403																																						uc001dge.2																			0											c.(202-204)Ctt>Ttt		Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.							146.0	139.0	142.0					1																	74665467		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74665467C>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.202C>T	1.37:g.74665467C>T	ENSP00000476680:p.Leu68Phe					LRRIQ3_uc001dfy.4_5'Flank|LRRIQ3_uc001dfz.4_5'Flank|FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc010oqu.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc001dgb.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc010oqt.2_Missense_Mutation_p.L68F	p.L68F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN			1	269	+			0					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.202C>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212180	0.79240	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000472069;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.76448	1.46;0.88;-1.02;-0.72;-1.01;-1.01	4.79	3.86	0.44501	.	0.096519	0.43110	D	0.000618	T	0.77883	0.4197	L	0.50333	1.59	0.26896	N	0.967227	P;D;D;D;B;B	0.76494	0.654;0.999;0.99;0.982;0.013;0.44	B;D;P;P;B;B	0.68765	0.349;0.96;0.776;0.839;0.013;0.127	T	0.69764	-0.5057	10	0.66056	D	0.02	.	12.4091	0.55457	0.0:0.917:0.0:0.083	.	68;68;68;68;68;68	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	F	68;68;90;68;68;68;66;68;68;68;68;68;68	ENSP00000359935:L68F;ENSP00000432819:L68F;ENSP00000359936:L68F;ENSP00000359932:L68F;ENSP00000450895:L68F;ENSP00000359928:L68F	ENSP00000359928:L68F	L	+	1	0	RP11-653A5.2;TNNI3K;AC093158.1	74438055	0.976000	0.34144	0.994000	0.49952	0.994000	0.84299	2.410000	0.44592	2.345000	0.79718	0.585000	0.79938	CTT		0.403	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ST6GALNAC3	256435	broad.mit.edu	37	1	76877752	76877752	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:76877752C>T	ENST00000328299.3	+	3	421	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	91					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AGATGGTTGGCCAGAAGGTGG	0.448																																						uc001dhh.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(271-273)ggC>ggT		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.							114.0	100.0	105.0					1																	76877752		2203	4300	6503	SO:0001819	synonymous_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877752C>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.273C>T	1.37:g.76877752C>T						ST6GALNAC3_uc001dhg.4_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G	p.G91G	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			2	436	+			91					Q6PCE0|Q6UX29|Q8N259	Silent	SNP	ENST00000328299.3	37	c.273C>T	CCDS672.1																																																																																				0.448	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	
PDE4DIP	9659	broad.mit.edu	37	1	144854614	144854614	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:144854614C>T	ENST00000369354.3	-	42	7045	c.6856G>A	c.(6856-6858)Gta>Ata	p.V2286I	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V2371I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V2286I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.V2180I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V2422I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2286					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTGGATACTTTGGTTCTC	0.498			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6856-6858)Gta>Ata		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							270.0	229.0	243.0					1																	144854614		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854614C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6856G>A	1.37:g.144854614C>T	ENSP00000358360:p.Val2286Ile					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.V2286I|PDE4DIP_uc001elx.4_Missense_Mutation_p.V2180I|PDE4DIP_uc001elv.4_Missense_Mutation_p.V1293I	p.V2286I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	41	7158	-			2286					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6856G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	7.008	0.556228	0.13436	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01474	4.85;4.94;4.93;4.91;4.94	4.0	-1.75	0.08031	.	.	.	.	.	T	0.00384	0.0012	N	0.20685	0.6	0.21841	N	0.999511	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45454	-0.9260	9	0.41790	T	0.15	.	1.5846	0.02641	0.1841:0.4502:0.1586:0.2071	.	2180;2286	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	2180;2286;2286;2371;2422	ENSP00000327209:V2180I;ENSP00000358360:V2286I;ENSP00000358363:V2286I;ENSP00000435654:V2371I;ENSP00000358366:V2422I	ENSP00000327209:V2180I	V	-	1	0	PDE4DIP	143565971	0.334000	0.24739	0.031000	0.17742	0.451000	0.32288	0.263000	0.18478	0.019000	0.15079	-0.656000	0.03901	GTA		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
LCE1E	353135	broad.mit.edu	37	1	152760044	152760044	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:152760044C>A	ENST00000368770.3	+	2	322	c.269C>A	c.(268-270)cCc>cAc	p.P90H	LCE1E_ENST00000368771.1_Missense_Mutation_p.P90H	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	90	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCACAGACCCCAGAGCTCT	0.687																																						uc021ozg.1																			0				lung(5)|stomach(1)	6						c.(268-270)cCc>cAc		Homo sapiens late cornified envelope 1E (LCE1E), mRNA.							35.0	47.0	43.0					1																	152760044		2199	4298	6497	SO:0001583	missense	353135				keratinization			g.chr1:152760044C>A	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.269C>A	1.37:g.152760044C>A	ENSP00000357759:p.Pro90His					LCE1E_uc001fan.3_Missense_Mutation_p.P90H	p.P90H	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	269	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		90			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.269C>A	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	C	0.214	-1.034437	0.02029	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.03717	3.83;3.83	3.73	-7.32	0.01436	.	.	.	.	.	T	0.00552	0.0018	N	0.04260	-0.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52162	-0.8612	9	0.87932	D	0	.	7.4079	0.27001	0.1687:0.5119:0.3193:0.0	.	90	Q5T753	LCE1E_HUMAN	H	90	ENSP00000357760:P90H;ENSP00000357759:P90H	ENSP00000357759:P90H	P	+	2	0	LCE1E	151026668	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.250000	0.02885	-1.183000	0.02723	-0.413000	0.06143	CCC		0.687	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353	
RGS4	5999	broad.mit.edu	37	1	163044110	163044110	+	Splice_Site	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:163044110G>A	ENST00000367909.6	+	5	718		c.e5-1		RGS4_ENST00000367906.3_Splice_Site|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000421743.2_Splice_Site|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_Splice_Site|RGS4_ENST00000527809.1_Splice_Site	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4						inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGCCCCTCAGGTGAACCTGG	0.488																																					Ovarian(76;1257 1738 3039 6086)	uc001gcl.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						c.e6-1		Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.							146.0	149.0	148.0					1																	163044110		2203	4300	6503	SO:0001630	splice_region_variant	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044110G>A	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.379-1G>A	1.37:g.163044110G>A						RGS4_uc009wuy.3_Splice_Site_p.V127_splice|RGS4_uc009wuz.3_Splice_Site_p.C71_splice|RGS4_uc009wva.3_Splice_Site_p.V109_splice	p.V224_splice	NM_001102445	NP_001106851	P49798	RGS4_HUMAN			6	999	+			127					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Splice_Site	SNP	ENST00000367909.6	37	c.670_splice	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049547	0.75846	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367908;ENST00000367906;ENST00000528938	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4355	0.75143	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS4	161310734	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.350000	0.97070	2.478000	0.83669	0.655000	0.94253	.		0.488	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613	Intron
MROH9	80133	broad.mit.edu	37	1	170928687	170928687	+	Silent	SNP	T	T	G	rs368711198		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:170928687T>G	ENST00000367758.3	+	5	336	c.237T>G	c.(235-237)ctT>ctG	p.L79L	MROH9_ENST00000367759.4_Silent_p.L79L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	79																	TGCCAAGTCTTGACAAAGTAA	0.363																																						uc010plz.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45						c.(235-237)ctT>ctG		Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.		T	,	2,3690		0,2,1844	126.0	116.0	119.0		237,237	-1.8	0.0	1		119	0,8212		0,0,4106	no	coding-synonymous,coding-synonymous	C1orf129	NM_001163629.1,NM_025063.2	,	0,2,5950	GG,GT,TT		0.0,0.0542,0.0168	,	79/862,79/574	170928687	2,11902	1846	4106	5952	SO:0001819	synonymous_variant	80133						binding	g.chr1:170928687T>G	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.237T>G	1.37:g.170928687T>G						C1orf129_uc001ghg.3_Silent_p.L79L|C1orf129_uc009wvy.3_5'UTR	p.L79L	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN			4	391	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		79					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.237T>G	CCDS41436.1																																																																																				0.363	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
CACNA1E	777	broad.mit.edu	37	1	181693656	181693656	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:181693656G>A	ENST00000367573.2	+	17	2125	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A316T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A709T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A709T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A709T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A660T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A660T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	709					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTCGCCAACGCCCAGGAACT	0.463																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2125-2127)Gcc>Acc		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							132.0	126.0	128.0					1																	181693656		1984	4171	6155	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181693656G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2125G>A	1.37:g.181693656G>A	ENSP00000356545:p.Ala709Thr					CACNA1E_uc001gow.3_Missense_Mutation_p.A709T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A709T	p.A709T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			16	2320	+			709					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2125G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047615	0.55110	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96885	-4.14;-4.14;-4.14;-4.12;-4.16;-4.15;-4.15	4.86	4.86	0.63082	.	0.149284	0.64402	D	0.000012	D	0.97111	0.9056	L	0.43923	1.385	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.98122	1.0426	10	0.87932	D	0	.	17.9496	0.89048	0.0:0.0:1.0:0.0	.	709;709	Q15878-2;Q15878-3	.;.	T	709;709;660;660;316;709;709	ENSP00000356542:A709T;ENSP00000434814:A709T;ENSP00000350183:A660T;ENSP00000351101:A660T;ENSP00000356539:A316T;ENSP00000353222:A709T;ENSP00000356545:A709T	ENSP00000350183:A660T	A	+	1	0	CACNA1E	179960279	1.000000	0.71417	0.983000	0.44433	0.202000	0.24057	9.675000	0.98638	2.390000	0.81377	0.462000	0.41574	GCC		0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
C4BPA	722	broad.mit.edu	37	1	207300203	207300203	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:207300203T>C	ENST00000367070.3	+	7	1046	c.852T>C	c.(850-852)gaT>gaC	p.D284D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	284	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGATGCTGATAGCAAATGGA	0.403																																						uc001hfo.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(850-852)gaT>gaC		Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.							179.0	150.0	160.0					1																	207300203		2203	4300	6503	SO:0001819	synonymous_variant	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207300203T>C	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.852T>C	1.37:g.207300203T>C							p.D284D	NM_000715	NP_000706	P04003	C4BPA_HUMAN			6	1046	+			284			Sushi 4.		Q5VVQ8	Silent	SNP	ENST00000367070.3	37	c.852T>C	CCDS1477.1																																																																																				0.403	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3		
PARP1	142	broad.mit.edu	37	1	226550806	226550806	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:226550806C>T	ENST00000366794.5	-	21	2985	c.2842G>A	c.(2842-2844)Gtc>Atc	p.V948I	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	948	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTACCTTTGACACTGTGCTTG	0.527								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2842-2844)Gtc>Atc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.							195.0	157.0	170.0					1																	226550806		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226550806C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2842G>A	1.37:g.226550806C>T	ENSP00000355759:p.Val948Ile						p.V948I	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	20	3013	-	Breast(184;0.133)		948			PARP catalytic.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.2842G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553476	0.96501	.	.	ENSG00000143799	ENST00000366794	T	0.15487	2.42	5.77	5.77	0.91146	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.72576	2.205	0.80722	D	1	D	0.54207	0.965	P	0.55615	0.78	T	0.02031	-1.1226	10	0.41790	T	0.15	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	948	P09874	PARP1_HUMAN	I	948	ENSP00000355759:V948I	ENSP00000355759:V948I	V	-	1	0	PARP1	224617429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.715000	0.92844	0.655000	0.94253	GTC		0.527	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	
RYR2	6262	broad.mit.edu	37	1	237789020	237789020	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:237789020C>T	ENST00000366574.2	+	40	6399	c.6082C>T	c.(6082-6084)Cgt>Tgt	p.R2028C	RYR2_ENST00000360064.6_Missense_Mutation_p.R2026C|RYR2_ENST00000542537.1_Missense_Mutation_p.R2012C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2028	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTAGAGGGCGTCTGCTATC	0.393																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6082-6084)Cgt>Tgt		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							121.0	114.0	116.0					1																	237789020		1848	4095	5943	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237789020C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6082C>T	1.37:g.237789020C>T	ENSP00000355533:p.Arg2028Cys						p.R2028C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6202	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2028			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6082C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115050	0.94339	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73575	-0.76;-0.76;-0.76	5.61	5.61	0.85477	.	0.000000	0.53938	U	0.000046	D	0.86838	0.6029	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	P	0.58391	0.838	D	0.89209	0.3563	10	0.87932	D	0	.	17.802	0.88590	0.0:1.0:0.0:0.0	.	2028	Q92736	RYR2_HUMAN	C	2028;2026;2012	ENSP00000355533:R2028C;ENSP00000353174:R2026C;ENSP00000443798:R2012C	ENSP00000353174:R2026C	R	+	1	0	RYR2	235855643	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	3.800000	0.55537	2.644000	0.89710	0.655000	0.94253	CGT		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR2T27	403239	broad.mit.edu	37	1	248814164	248814164	+	Missense_Mutation	SNP	C	C	T	rs144642254	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:248814164C>T	ENST00000344889.3	-	1	21	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGCATACACGGAATAATTG	0.433													C|||	2	0.000399361	0.0008	0.0	5008	,	,		27223	0.0		0.001	False		,,,				2504	0.0					uc010pzo.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(22-24)Gtg>Atg		Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.		C	MET/VAL	1,4401		0,1,2200	59.0	53.0	55.0		22	-1.2	0.1	1	dbSNP_134	55	2,8560		0,2,4279	no	missense	OR2T27	NM_001001824.1	21	0,3,6479	TT,TC,CC		0.0234,0.0227,0.0231	benign	8/318	248814164	3,12961	2201	4281	6482	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814164C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.22G>A	1.37:g.248814164C>T	ENSP00000342008:p.Val8Met						p.V8M	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	22	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	8						Missense_Mutation	SNP	ENST00000344889.3	37	c.22G>A	CCDS31124.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.096	-1.159772	0.01686	2.27E-4	2.34E-4	ENSG00000187701	ENST00000344889	T	0.20069	2.1	2.67	-1.21	0.09524	.	0.511458	0.16445	N	0.214124	T	0.09598	0.0236	N	0.16833	0.445	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.21280	-1.0250	10	0.33940	T	0.23	.	4.2872	0.10860	0.0:0.3486:0.1812:0.4702	.	8	Q8NH04	O2T27_HUMAN	M	8	ENSP00000342008:V8M	ENSP00000342008:V8M	V	-	1	0	OR2T27	246880787	0.000000	0.05858	0.068000	0.19968	0.047000	0.14425	-0.019000	0.12546	-0.254000	0.09500	0.194000	0.17425	GTG		0.433	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824	
KIAA1462	57608	broad.mit.edu	37	10	30315264	30315264	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:30315264C>T	ENST00000375377.1	-	3	3914	c.3813G>A	c.(3811-3813)atG>atA	p.M1271I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1271					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGACTCTCATCCGTGACA	0.582																																						uc009xle.2																			0		p.R1270W(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3811-3813)atG>atA		Homo sapiens KIAA1462 (KIAA1462), mRNA.							52.0	51.0	51.0					10																	30315264		1962	4140	6102	SO:0001583	missense	57608							g.chr10:30315264C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3813G>A	10.37:g.30315264C>T	ENSP00000364526:p.Met1271Ile					KIAA1462_uc001iux.3_Missense_Mutation_p.M1271I|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.M1133I	p.M1271I	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3950	-			1271					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3813G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873427	0.51695	.	.	ENSG00000165757	ENST00000375377	T	0.14766	2.48	5.44	4.45	0.53987	.	0.042841	0.85682	D	0.000000	T	0.23492	0.0568	M	0.70275	2.135	0.46011	D	0.998811	P	0.50528	0.936	P	0.46320	0.512	T	0.02950	-1.1090	10	0.44086	T	0.13	-25.8983	16.8782	0.86057	0.137:0.863:0.0:0.0	.	1271	Q9P266	K1462_HUMAN	I	1271	ENSP00000364526:M1271I	ENSP00000364526:M1271I	M	-	3	0	KIAA1462	30355270	1.000000	0.71417	0.972000	0.41901	0.090000	0.18270	2.572000	0.45999	2.557000	0.86248	0.655000	0.94253	ATG		0.582	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
RET	5979	broad.mit.edu	37	10	43604497	43604497	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:43604497A>T	ENST00000355710.3	+	6	1314	c.1082A>T	c.(1081-1083)aAc>aTc	p.N361I	RET_ENST00000340058.5_Missense_Mutation_p.N361I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	361					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTCAACCGGAACCTCTCCATC	0.597		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0		p.R360W(1)		NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1081-1083)aAc>aTc		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)						86.0	73.0	77.0					10																	43604497		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43604497A>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1082A>T	10.37:g.43604497A>T	ENSP00000347942:p.Asn361Ile					RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I	p.N361I	NM_020975	NP_066124	P07949	RET_HUMAN			5	1272	+		Ovarian(717;0.0423)	361					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1082A>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356284	0.41700	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79554	-1.16;-1.28	5.02	3.16	0.36331	.	0.194464	0.53938	D	0.000042	T	0.70465	0.3227	L	0.34521	1.04	0.37001	D	0.895263	B;P;P	0.44734	0.134;0.756;0.842	B;B;B	0.42138	0.096;0.209;0.377	T	0.72057	-0.4405	10	0.62326	D	0.03	.	8.078	0.30729	0.1874:0.0:0.8126:0.0	.	107;361;361	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	I	361	ENSP00000347942:N361I;ENSP00000344798:N361I	ENSP00000344798:N361I	N	+	2	0	RET	42924503	0.987000	0.35691	0.995000	0.50966	0.401000	0.30781	1.691000	0.37721	0.506000	0.28125	-0.366000	0.07423	AAC		0.597	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
GPRIN2	9721	broad.mit.edu	37	10	47000008	47000008	+	Silent	SNP	G	G	A	rs111800394		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:47000008G>A	ENST00000374317.1	+	3	1401	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	GPRIN2_ENST00000374314.4_Silent_p.P376P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	376										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGAGGTGCCGTCCCCTGTGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		35685	0.0		0.001	False		,,,				2504	0.0					uc001jec.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1126-1128)ccG>ccA		Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.							164.0	140.0	148.0					10																	47000008		2203	4300	6503	SO:0001819	synonymous_variant	9721							g.chr10:47000008G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1128G>A	10.37:g.47000008G>A						GPRIN2_uc021ppt.1_Silent_p.P376P	p.P376P	NM_014696	NP_055511	O60269	GRIN2_HUMAN			2	1263	+			376					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1128G>A	CCDS31192.1																																																																																				0.657	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
ATRNL1	26033	broad.mit.edu	37	10	117061475	117061475	+	Nonsense_Mutation	SNP	C	C	T	rs555650933		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:117061475C>T	ENST00000355044.3	+	17	2866	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.R11*|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	914	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R914*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTACGAAACGATGTGTTGA	0.453																																						uc001lcg.3																			1	Substitution - Nonsense(1)	p.R914*(2)|p.R914Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2740-2742)Cga>Tga		Homo sapiens attractin-like 1 (ATRNL1), mRNA.							292.0	214.0	241.0					10																	117061475		2203	4300	6503	SO:0001587	stop_gained	26033					integral to membrane	sugar binding	g.chr10:117061475C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2740C>T	10.37:g.117061475C>T	ENSP00000347152:p.Arg914*					ATRNL1_uc010qsm.2_Nonsense_Mutation_p.R89*|ATRNL1_uc010qsn.2_Non-coding_Transcript	p.R914*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	16	3126	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	914			PSI 4.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	c.2740C>T	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.247262|7.247262	0.98161|0.98161	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76506	.|0.3997	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74630	.|-0.3601	.|4	0.02654|.	T|.	1|.	-5.4211|-5.4211	19.7031|19.7031	0.96063|0.96063	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	914;11|43	.|.	ENSP00000347152:R914X|.	R|T	+|+	1|2	2|0	ATRNL1|ATRNL1	117051465|117051465	1.000000|1.000000	0.71417|0.71417	0.142000|0.142000	0.22268|0.22268	0.861000|0.861000	0.49209|0.49209	7.730000|7.730000	0.84881|0.84881	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	CGA|ACG		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
TSPAN4	7106	broad.mit.edu	37	11	866600	866600	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:866600A>G	ENST00000397404.1	+	9	946	c.687A>G	c.(685-687)caA>caG	p.Q229Q	TSPAN4_ENST00000409543.2_Silent_p.Q229Q|TSPAN4_ENST00000397408.1_Silent_p.Q229Q|TSPAN4_ENST00000397411.2_Silent_p.Q229Q|TSPAN4_ENST00000397406.1_Silent_p.Q229Q|TSPAN4_ENST00000397397.2_Silent_p.Q229Q|TSPAN4_ENST00000397396.1_Silent_p.Q165Q|TSPAN4_ENST00000525201.1_Silent_p.Q165Q|TSPAN4_ENST00000346501.4_Silent_p.Q195Q|TSPAN4_ENST00000409531.1_Silent_p.Q248Q	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	229					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGCCAAGTGGTCAAGG	0.642																																						uc001lsd.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(685-687)caA>caG		Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.							123.0	89.0	101.0					11																	866600		2203	4299	6502	SO:0001819	synonymous_variant	7106				protein complex assembly	integral to plasma membrane		g.chr11:866600A>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.687A>G	11.37:g.866600A>G						TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q	p.Q229Q	NM_003271	NP_001020410	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	896	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	229					Q6IAP6	Silent	SNP	ENST00000397404.1	37	c.687A>G	CCDS7721.1																																																																																				0.642	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2		
OR51S1	119692	broad.mit.edu	37	11	4870245	4870245	+	Missense_Mutation	SNP	C	C	T	rs560546339		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:4870245C>T	ENST00000322101.2	-	1	269	c.194G>A	c.(193-195)cGc>cAc	p.R65H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R65H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCATTGGGCGGTGCAGGGC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		20057	0.001		0.0	False		,,,				2504	0.0					uc010qyo.2																			1	Substitution - Missense(1)	p.R65H(2)	haematopoietic_and_lymphoid_tissue(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(193-195)cGc>cAc		Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.							116.0	93.0	101.0					11																	4870245		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870245C>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.194G>A	11.37:g.4870245C>T	ENSP00000322754:p.Arg65His						p.R65H	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	194	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	65					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.194G>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380471	0.42207	.	.	ENSG00000176922	ENST00000322101	T	0.00333	8.07	4.85	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001041	T	0.00210	0.0006	L	0.39245	1.2	0.09310	N	1	B	0.19706	0.038	B	0.10450	0.005	T	0.47100	-0.9143	10	0.87932	D	0	-7.7271	3.4877	0.07626	0.1696:0.4654:0.0:0.365	.	65	Q8NGJ8	O51S1_HUMAN	H	65	ENSP00000322754:R65H	ENSP00000322754:R65H	R	-	2	0	OR51S1	4826821	0.000000	0.05858	0.003000	0.11579	0.688000	0.40055	-1.163000	0.03138	0.592000	0.29728	0.563000	0.77884	CGC		0.572	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758	
RCN1	5954	broad.mit.edu	37	11	32119964	32119964	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:32119964A>G	ENST00000054950.3	+	3	810	c.517A>G	c.(517-519)Aga>Gga	p.R173G	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Missense_Mutation_p.R122G	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	173	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ACGTGATGAGAGAAGATTCAA	0.433																																						uc010reb.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17						c.(517-519)Aga>Gga		Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.							76.0	71.0	73.0					11																	32119964		2202	4297	6499	SO:0001583	missense	5954					endoplasmic reticulum lumen	calcium ion binding	g.chr11:32119964A>G	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.517A>G	11.37:g.32119964A>G	ENSP00000054950:p.Arg173Gly					RCN1_uc021qfp.1_Missense_Mutation_p.R7G|RCN1_uc001mtk.3_Missense_Mutation_p.R7G	p.R173G	NM_002901	NP_002892	Q15293	RCN1_HUMAN			2	783	+	Lung SC(675;0.225)		173			EF-hand 3.		B7Z1M1|D3DR00	Missense_Mutation	SNP	ENST00000054950.3	37	c.517A>G	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	a	19.15	3.771893	0.69992	.	.	ENSG00000049449	ENST00000530348;ENST00000532942;ENST00000054950;ENST00000532721	T;T;T	0.73469	0.56;-0.75;-0.75	5.45	5.45	0.79879	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	D	0.90638	0.4572	10	0.62326	D	0.03	-18.1406	15.5271	0.75919	1.0:0.0:0.0:0.0	.	173;122	Q15293;B7Z1M1	RCN1_HUMAN;.	G	7;122;173;7	ENSP00000436482:R7G;ENSP00000436422:R122G;ENSP00000054950:R173G	ENSP00000054950:R173G	R	+	1	2	RCN1	32076540	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	4.777000	0.62361	2.078000	0.62432	0.482000	0.46254	AGA		0.433	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901	
OR4C16	219428	broad.mit.edu	37	11	55340233	55340233	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55340233C>T	ENST00000314634.3	+	1	630	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGAGTTATGTCATGCTAATAT	0.433																																						uc010rih.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(628-630)gtC>gtT		Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.							120.0	103.0	109.0					11																	55340233		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340233C>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.630C>T	11.37:g.55340233C>T							p.V210V	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			0	630	+		all_epithelial(135;0.0748)	210					Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.630C>T	CCDS31502.1																																																																																				0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701	
OR5D18	219438	broad.mit.edu	37	11	55587827	55587827	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55587827C>A	ENST00000333976.4	+	1	742	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T241N(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCCTCC	0.507																																						uc010rin.2																			1	Substitution - Missense(1)	p.T241N(2)	lung(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(721-723)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							134.0	115.0	122.0					11																	55587827		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587827C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.722C>A	11.37:g.55587827C>A	ENSP00000335025:p.Thr241Asn						p.T241N	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	722	+		all_epithelial(135;0.208)	241					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.722C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.433657	0.83776	.	.	ENSG00000186119	ENST00000333976	T	0.40476	1.03	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001058	T	0.75946	0.3919	H	0.96111	3.77	0.42146	D	0.991539	D	0.89917	1.0	D	0.97110	1.0	D	0.84845	0.0810	10	0.87932	D	0	-51.9013	17.0924	0.86625	0.0:1.0:0.0:0.0	.	241	Q8NGL1	OR5DI_HUMAN	N	241	ENSP00000335025:T241N	ENSP00000335025:T241N	T	+	2	0	OR5D18	55344403	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.498000	0.60373	2.467000	0.83353	0.573000	0.79308	ACC		0.507	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
LPXN	9404	broad.mit.edu	37	11	58295179	58295179	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:58295179A>G	ENST00000395074.2	-	9	997	c.909T>C	c.(907-909)ttT>ttC	p.F303F	LPXN_ENST00000528489.1_Silent_p.F283F|LPXN_ENST00000528954.1_Silent_p.F308F	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	303	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGCCAGTAGAAAAACTGGTGA	0.473																																						uc001nmw.3																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(907-909)ttT>ttC		Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.							37.0	40.0	39.0					11																	58295179		2201	4295	6496	SO:0001819	synonymous_variant	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58295179A>G	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.909T>C	11.37:g.58295179A>G						LPXN_uc009ymp.3_Silent_p.F173F|LPXN_uc010rkj.2_Silent_p.F308F|LPXN_uc010rkk.2_Silent_p.F283F	p.F303F	NM_004811	NP_004802	O60711	LPXN_HUMAN			8	1054	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	303			LIM zinc-binding 3.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	ENST00000395074.2	37	c.909T>C	CCDS7969.1																																																																																				0.473	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811	
TYR	7299	broad.mit.edu	37	11	88911588	88911588	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:88911588A>G	ENST00000263321.5	+	1	969	c.467A>G	c.(466-468)tAt>tGt	p.Y156C	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	156					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ATAGGGACCTATGGCCAAATG	0.408																																						uc001pcs.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(466-468)tAt>tGt		Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						157.0	149.0	152.0					11																	88911588		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911588A>G	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.467A>G	11.37:g.88911588A>G	ENSP00000263321:p.Tyr156Cys						p.Y156C	NM_000372	NP_000363	P14679	TYRO_HUMAN			0	549	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	156					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.467A>G	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	9.909	1.209111	0.22205	.	.	ENSG00000077498	ENST00000263321	D	0.84070	-1.8	5.97	4.83	0.62350	Uncharacterised domain, di-copper centre (2);	0.558524	0.21189	N	0.078663	D	0.91626	0.7354	M	0.91717	3.235	0.45477	D	0.998448	D	0.64830	0.994	P	0.61940	0.896	D	0.92293	0.5843	9	.	.	.	.	12.5677	0.56318	0.8753:0.0:0.0:0.1247	.	156	P14679	TYRO_HUMAN	C	156	ENSP00000263321:Y156C	.	Y	+	2	0	TYR	88551236	0.870000	0.30015	0.976000	0.42696	0.080000	0.17528	2.677000	0.46892	1.054000	0.40438	-0.336000	0.08194	TAT		0.408	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372	
FAT3	120114	broad.mit.edu	37	11	92577445	92577445	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:92577445G>C	ENST00000298047.6	+	18	10929	c.10912G>C	c.(10912-10914)Gag>Cag	p.E3638Q	FAT3_ENST00000525166.1_Missense_Mutation_p.E3488Q|FAT3_ENST00000409404.2_Missense_Mutation_p.E3638Q|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3638	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGTGCATGTGGAGCAGTTGGT	0.557										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10912-10914)Gag>Cag		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							125.0	130.0	129.0					11																	92577445		2174	4277	6451	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577445G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10912G>C	11.37:g.92577445G>C	ENSP00000298047:p.Glu3638Gln	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.4_Missense_Mutation_p.E78Q	p.E3638Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			17	10929	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3638			Cadherin 33.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10912G>C		.	.	.	.	.	.	.	.	.	.	G	11.81	1.749647	0.30955	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.08458	3.09;3.09;3.09	5.82	4.9	0.64082	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.27454	0.0674	M	0.73962	2.25	0.80722	D	1	D;B	0.89917	1.0;0.273	D;B	0.69824	0.966;0.105	T	0.07404	-1.0774	9	0.20046	T	0.44	.	17.0309	0.86461	0.0:0.1271:0.8729:0.0	.	3638;3638	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	3638;3638;3488	ENSP00000298047:E3638Q;ENSP00000387040:E3638Q;ENSP00000432586:E3488Q	ENSP00000298047:E3638Q	E	+	1	0	FAT3	92217093	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.414000	0.59802	1.452000	0.47756	0.561000	0.74099	GAG		0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
OR10G8	219869	broad.mit.edu	37	11	123901051	123901051	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:123901051C>G	ENST00000431524.1	+	1	755	c.722C>G	c.(721-723)gCc>gGc	p.A241G		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGACCTGTGCCTCCCACTGT	0.547																																						uc001pzp.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(721-723)gCc>gGc		Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.							167.0	141.0	150.0					11																	123901051		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901051C>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.722C>G	11.37:g.123901051C>G	ENSP00000389072:p.Ala241Gly						p.A241G	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	722	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	241					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.722C>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	9.859	1.195656	0.22037	.	.	ENSG00000234560	ENST00000431524	T	0.39787	1.06	2.91	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.345666	0.20944	N	0.082863	T	0.27454	0.0674	N	0.05414	-0.055	0.26630	N	0.972496	P	0.43024	0.798	P	0.56343	0.796	T	0.27020	-1.0086	10	0.07030	T	0.85	.	3.0715	0.06233	0.0:0.4489:0.2262:0.3248	.	241	Q8NGN5	O10G8_HUMAN	G	241	ENSP00000389072:A241G	ENSP00000389072:A241G	A	+	2	0	OR10G8	123406261	0.000000	0.05858	0.998000	0.56505	0.835000	0.47333	-1.509000	0.02264	0.533000	0.28675	0.557000	0.71058	GCC		0.547	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464	
CACNA1C	775	broad.mit.edu	37	12	2675631	2675631	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:2675631C>T	ENST00000347598.4	+	12	1552	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	CACNA1C_ENST00000402845.3_Missense_Mutation_p.R518C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R518C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R518C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R518C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R543C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R518C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R518C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	518					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGGAAGTGCCGCGCCGCAGT	0.562																																						uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1552-1554)Cgc>Tgc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						49.0	55.0	53.0					12																	2675631		1988	4151	6139	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2675631C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1552C>T	12.37:g.2675631C>T	ENSP00000266376:p.Arg518Cys					CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C	p.R518C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	11	1865	+			518					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1552C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052889	0.75960	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.32	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	H	0.96691	3.865	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.997;0.985;0.995;0.999;0.997;0.999;0.988;0.993;0.999;0.997;0.983;0.999;0.993;0.997;0.995;0.993;0.997;0.988;0.995;0.999;0.999;0.995;0.995;0.997	D	0.98525	1.0625	10	0.87932	D	0	.	13.1219	0.59331	0.2916:0.7084:0.0:0.0	.	187;518;515;518;518;518;518;518;518;518;518;518;489;518;518;518;518;518;518;518;518;518;518;518;518;518	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	543;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;518;359	ENSP00000336982:R543C;ENSP00000382563:R518C;ENSP00000437936:R518C;ENSP00000382552:R518C;ENSP00000382547:R518C;ENSP00000382506:R518C;ENSP00000382530:R518C;ENSP00000382546:R518C;ENSP00000382500:R518C;ENSP00000382549:R518C;ENSP00000266376:R518C;ENSP00000382515:R518C;ENSP00000382510:R518C;ENSP00000341092:R518C;ENSP00000382537:R518C;ENSP00000329877:R518C;ENSP00000382557:R518C;ENSP00000385724:R518C;ENSP00000382512:R518C;ENSP00000382542:R518C;ENSP00000382526:R518C;ENSP00000385896:R518C;ENSP00000382504:R518C	ENSP00000323129:R359C	R	+	1	0	CACNA1C	2545892	0.998000	0.40836	0.902000	0.35471	0.651000	0.38670	2.954000	0.49113	1.442000	0.47568	0.563000	0.77884	CGC		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
CREBL2	1389	broad.mit.edu	37	12	12765120	12765120	+	Splice_Site	SNP	A	A	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:12765120A>C	ENST00000228865.2	+	1	295	c.14A>C	c.(13-15)aAg>aCg	p.K5T	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	5					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		GATGACAGTAAGGTAAGTCTT	0.677																																						uc001rap.1																			0				large_intestine(1)	1						c.e1+1		Homo sapiens cAMP responsive element binding protein-like 2 (CREBL2), mRNA.							86.0	83.0	84.0					12																	12765120		2203	4300	6503	SO:0001630	splice_region_variant	1389				cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12765120A>C	AF039081	CCDS8651.1	12p13.2	2013-01-10			ENSG00000111269	ENSG00000111269		"""basic leucine zipper proteins"""	2350	protein-coding gene	gene with protein product		603476				9693048	Standard	NM_001310		Approved		uc001rap.1	O60519	OTTHUMG00000168704	ENST00000228865.2:c.15+1A>C	12.37:g.12765120A>C							p.K5_splice	NM_001310	NP_001301	O60519	CRBL2_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0503)	1	291	+		Prostate(47;0.0684)	5					B5BUM5	Missense_Mutation	SNP	ENST00000228865.2	37	c.15_splice	CCDS8651.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529265	0.85706	.	.	ENSG00000111269	ENST00000228865	.	.	.	5.23	5.23	0.72850	.	0.144057	0.64402	D	0.000007	T	0.38134	0.1029	N	0.22421	0.69	0.31980	N	0.606053	P	0.51653	0.947	P	0.53490	0.727	T	0.47598	-0.9105	9	0.44086	T	0.13	-18.3905	7.6523	0.28354	0.9082:0.0:0.0918:0.0	.	5	O60519	CRBL2_HUMAN	T	5	.	ENSP00000228865:K5T	K	+	2	0	CREBL2	12656387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.333000	0.59285	2.184000	0.69523	0.533000	0.62120	AAG		0.677	CREBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400660.1	NM_001310	Missense_Mutation
CNTN1	1272	broad.mit.edu	37	12	41410534	41410534	+	Silent	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:41410534A>T	ENST00000551295.2	+	19	2352	c.2235A>T	c.(2233-2235)gcA>gcT	p.A745A	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.A745A|CNTN1_ENST00000348761.2_Silent_p.A734A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	745	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACATAGTGGCATTTAAGCCAT	0.368																																						uc001rmm.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2233-2235)gcA>gcT		Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.							95.0	85.0	88.0					12																	41410534		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410534A>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2235A>T	12.37:g.41410534A>T						CNTN1_uc001rmn.1_Silent_p.A734A	p.A745A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			18	2348	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	745			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2235A>T	CCDS8737.1																																																																																				0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
SRGAP1	57522	broad.mit.edu	37	12	64491111	64491111	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:64491111C>T	ENST00000355086.3	+	15	2293	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.P567L|SRGAP1_ENST00000543397.1_Missense_Mutation_p.P527L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	590	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTGGAAAACCCCCTCTTTCCT	0.378																																						uc010ssp.1																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1768-1770)cCc>cTc		Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.							93.0	91.0	92.0					12																	64491111		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491111C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1769C>T	12.37:g.64491111C>T	ENSP00000347198:p.Pro590Leu					SRGAP1_uc001srv.2_Missense_Mutation_p.P527L	p.P590L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	14	1825	+			590			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1769C>T	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247279	0.95305	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.58358	0.34;0.34;0.34	5.53	5.53	0.82687	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.35013	U	0.003518	T	0.82263	0.4999	H	0.96460	3.825	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.976;0.982	D	0.87448	0.2399	9	.	.	.	.	19.8385	0.96670	0.0:1.0:0.0:0.0	.	590;527	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	L	590;567;527	ENSP00000347198:P590L;ENSP00000350480:P567L;ENSP00000437948:P527L	.	P	+	2	0	SRGAP1	62777378	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.726000	0.84824	2.761000	0.94854	0.655000	0.94253	CCC		0.378	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
PTPRB	5787	broad.mit.edu	37	12	70949684	70949684	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:70949684C>T	ENST00000261266.5	-	17	4334	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	PTPRB_ENST00000550358.1_Silent_p.E1565E|PTPRB_ENST00000451516.2_Silent_p.E1345E|PTPRB_ENST00000334414.6_Silent_p.E1653E|PTPRB_ENST00000550857.1_Silent_p.E1345E|PTPRB_ENST00000538708.1_Silent_p.E1345E	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1435	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCAACCACCTCGCTGGTCA	0.527																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4303-4305)gaG>gaA		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							105.0	104.0	104.0					12																	70949684		2024	4181	6205	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949684C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4305G>A	12.37:g.70949684C>T						PTPRB_uc010sto.2_Silent_p.E1345E|PTPRB_uc010stp.2_Silent_p.E1345E|PTPRB_uc001swc.4_Silent_p.E1653E|PTPRB_uc001swa.4_Silent_p.E1565E	p.E1435E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		16	4335	-	Renal(347;0.236)		1435			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.4305G>A	CCDS44944.1																																																																																				0.527	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
PABPC3	5042	broad.mit.edu	37	13	25671682	25671682	+	Missense_Mutation	SNP	G	G	A	rs371964552		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:25671682G>A	ENST00000281589.3	+	1	1383	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	449					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGCTATCCGCCCAGGTGCT	0.502																																						uc001upy.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1345-1347)cGc>cAc		Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.							122.0	120.0	121.0					13																	25671682		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671682G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1346G>A	13.37:g.25671682G>A	ENSP00000281589:p.Arg449His						p.R449H	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	1407	+		Lung SC(185;0.0225)|Breast(139;0.0602)	449					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1346G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.826	0.153547	0.09185	.	.	ENSG00000151846	ENST00000281589	T	0.29142	1.58	0.875	0.875	0.19130	.	0.132256	0.32987	U	0.005420	T	0.13884	0.0336	N	0.11724	0.165	0.43141	D	0.994897	B	0.11235	0.004	B	0.06405	0.002	T	0.08659	-1.0711	10	0.24483	T	0.36	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	449	Q9H361	PABP3_HUMAN	H	449	ENSP00000281589:R449H	ENSP00000281589:R449H	R	+	2	0	PABPC3	24569682	1.000000	0.71417	0.917000	0.36280	0.039000	0.13416	3.229000	0.51278	0.759000	0.33084	0.313000	0.20887	CGC		0.502	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
ATP8A2	51761	broad.mit.edu	37	13	26273468	26273468	+	Missense_Mutation	SNP	C	C	T	rs542606008		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:26273468C>T	ENST00000381655.2	+	25	2511	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A750V|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	750					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCGTGCAAAGCGGTCATATGC	0.522																																						uc001uqk.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2368-2370)gCg>gTg		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.							65.0	64.0	64.0					13																	26273468		1952	4139	6091	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273468C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2369C>T	13.37:g.26273468C>T	ENSP00000371070:p.Ala790Val					ATP8A2_uc010tdi.2_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V	p.A790V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	24	2511	+		Breast(139;0.0201)|Lung SC(185;0.0225)	750					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2369C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719961	0.48728	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.86562	-2.14;-2.14	5.88	5.88	0.94601	HAD-like domain (1);	0.053116	0.85682	D	0.000000	D	0.84813	0.5555	L	0.53617	1.68	0.80722	D	1	P;P;P	0.39352	0.469;0.669;0.469	B;B;B	0.34418	0.182;0.114;0.182	D	0.83410	0.0027	10	0.33940	T	0.23	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	750;570;750	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	V	790;750;570	ENSP00000371070:A790V;ENSP00000255283:A750V	ENSP00000255283:A750V	A	+	2	0	ATP8A2	25171468	1.000000	0.71417	0.340000	0.25575	0.230000	0.25150	7.813000	0.86123	2.789000	0.95967	0.655000	0.94253	GCG		0.522	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
RNASEH2B	79621	broad.mit.edu	37	13	51530575	51530575	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:51530575G>C	ENST00000336617.3	+	11	1303	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	302					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TACCTTTTTTGGGGTAAAAAA	0.299																																						uc001vfa.4																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(904-906)Ggg>Cgg		Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.							23.0	26.0	25.0					13																	51530575		2196	4289	6485	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530575G>C	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.904G>C	13.37:g.51530575G>C	ENSP00000337623:p.Gly302Arg					RNASEH2B_uc001vfb.4_Intron	p.G302R	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	10	1303	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	302					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.904G>C	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591563	0.28357	.	.	ENSG00000136104	ENST00000336617;ENST00000539292	D	0.96774	-4.12	6.06	6.06	0.98353	.	0.335255	0.38326	N	0.001723	D	0.93119	0.7809	L	0.45051	1.395	0.80722	D	1	B	0.20261	0.043	B	0.19148	0.024	D	0.88186	0.2874	10	0.27785	T	0.31	-1.9885	11.5047	0.50459	0.0811:0.0:0.9189:0.0	.	302	Q5TBB1	RNH2B_HUMAN	R	302	ENSP00000337623:G302R	ENSP00000337623:G302R	G	+	1	0	RNASEH2B	50428576	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	4.167000	0.58209	2.871000	0.98454	0.655000	0.94253	GGG		0.299	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570	
PCDH20	64881	broad.mit.edu	37	13	61985658	61985658	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:61985658T>C	ENST00000409186.1	-	5	4679	c.2574A>G	c.(2572-2574)agA>agG	p.R858R	PCDH20_ENST00000409204.4_Silent_p.R858R			Q8N6Y1	PCD20_HUMAN	protocadherin 20	858	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGGTTCTTTTCTTAAAAGAC	0.408																																						uc001vid.4																			0		p.S858C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2572-2574)agA>agG		Homo sapiens protocadherin 20 (PCDH20), mRNA.							74.0	72.0	72.0					13																	61985658		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985658T>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2574A>G	13.37:g.61985658T>C						PCDH20_uc010thj.2_Silent_p.R858R	p.R858R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	1	2938	-		Breast(118;0.195)|Prostate(109;0.229)	831					A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2574A>G	CCDS9442.2																																																																																				0.408	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
MYO16	23026	broad.mit.edu	37	13	109859100	109859100	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:109859100T>C	ENST00000357550.2	+	34	5534	c.5493T>C	c.(5491-5493)ccT>ccC	p.P1831P	MYO16_ENST00000356711.2_Silent_p.P1831P	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCCACCACCTTGCAAGAAGC	0.597																																						uc010agk.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(5557-5559)ccT>ccC		Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.							48.0	46.0	47.0					13																	109859100		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109859100T>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5493T>C	13.37:g.109859100T>C						MYO16_uc001vqt.1_Silent_p.P1831P	p.P1853P	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		34	6181	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1831						Silent	SNP	ENST00000357550.2	37	c.5559T>C	CCDS32008.1																																																																																				0.597	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
FKBP3	2287	broad.mit.edu	37	14	45587256	45587256	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr14:45587256C>T	ENST00000216330.3	-	7	1005	c.595G>A	c.(595-597)Gga>Aga	p.G199R	FKBP3_ENST00000396062.3_Missense_Mutation_p.G199R			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	199	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CCTTTCTTTCCGTAAGCCCAT	0.378																																						uc010tqf.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(595-597)Gga>Aga		Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.							161.0	168.0	165.0					14																	45587256		2203	4300	6503	SO:0001583	missense	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45587256C>T	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.595G>A	14.37:g.45587256C>T	ENSP00000216330:p.Gly199Arg						p.G199R	NM_002013	NP_002004	Q00688	FKBP3_HUMAN			5	945	-			199			PPIase FKBP-type.		B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	c.595G>A	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380796	0.95945	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	T;T	0.68624	-0.34;-0.34	5.87	5.87	0.94306	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93144	0.6544	10	0.87932	D	0	-9.7228	19.8196	0.96589	0.0:1.0:0.0:0.0	.	199	Q00688	FKBP3_HUMAN	R	199	ENSP00000216330:G199R;ENSP00000379374:G199R	ENSP00000216330:G199R	G	-	1	0	FKBP3	44657006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.769000	0.85360	2.770000	0.95276	0.650000	0.86243	GGA		0.378	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013	
NBEAP1	606	broad.mit.edu	37	15	20876531	20876531	+	RNA	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:20876531C>A	ENST00000556948.1	-	0	69							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		TGAGATAAACCATCAAGGTAT	0.343																																						uc010tze.1																			0											c.(82-84)Ggt>Tgt		Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																																						606							g.chr15:20876531C>A			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20876531C>A						NBEAP1_uc010tzd.2_Non-coding_Transcript	p.G28C							1	289	-									Missense_Mutation	SNP	ENST00000556948.1	37	c.82G>T																																																																																					0.343	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992	
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:41146113C>T	ENST00000344051.4	+	5	1181	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_ENST00000431806.1_Intron|SPINT1_ENST00000562057.1_Intron			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	316					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		14296	0.0		0.0	False		,,,				2504	0.001					uc001zna.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(946-948)gCg>gTg		Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.		C	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	99.0	96.0		,,947	-2.4	0.0	15	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,	,,316/530	41146113	5,13001	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146113C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.947C>T	15.37:g.41146113C>T	ENSP00000342098:p.Ala316Val					SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	316					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.947C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140218	0.21205	2.27E-4	4.65E-4	ENSG00000166145	ENST00000344051;ENST00000536281	D	0.95447	-3.71	3.63	-2.36	0.06663	.	1.553590	0.03603	N	0.233774	D	0.86335	0.5908	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76971	-0.2761	10	0.26408	T	0.33	-1.0835	1.5857	0.02644	0.1618:0.3922:0.1649:0.2811	.	316	O43278	SPIT1_HUMAN	V	316;283	ENSP00000342098:A316V	ENSP00000342098:A316V	A	+	2	0	SPINT1	38933405	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-0.482000	0.06544	-0.420000	0.07427	-0.253000	0.11424	GCG		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710	
PLA2G4D	283748	broad.mit.edu	37	15	42364081	42364081	+	Silent	SNP	G	G	A	rs200945224		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:42364081G>A	ENST00000290472.3	-	15	1558	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	488	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGGAAACCGACCTCATAGG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17278	0.0		0.0	False		,,,				2504	0.0					uc001zox.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1462-1464)gtC>gtT		Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.		G		0,4406		0,0,2203	41.0	37.0	38.0		1464	-3.2	0.7	15		38	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PLA2G4D	NM_178034.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		488/819	42364081	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364081G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1464C>T	15.37:g.42364081G>A							p.V488V	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	14	1559	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	488			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.1464C>T	CCDS32203.1																																																																																				0.607	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	
ATP8B4	79895	broad.mit.edu	37	15	50211036	50211036	+	Splice_Site	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:50211036C>A	ENST00000284509.6	-	19	2176	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*	ATP8B4_ENST00000559829.1_Splice_Site_p.E679*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	679						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCAAGTTACCTTGTTTGTCT	0.318																																						uc001zxu.3																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.e19+1		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							143.0	128.0	133.0					15																	50211036		2196	4294	6490	SO:0001630	splice_region_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50211036C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2035+1G>T	15.37:g.50211036C>A						ATP8B4_uc010ber.3_Splice_Site_p.E552_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E489_splice|ATP8B4_uc010ufe.2_Splice_Site	p.E679_splice	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	19	2177	-		all_lung(180;0.00183)	679					Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.2035_splice	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	40	8.220243	0.98712	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5077	0.84277	0.0:1.0:0.0:0.0	.	.	.	.	X	679	.	.	E	-	1	0	ATP8B4	47998328	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.468000	0.80943	2.579000	0.87056	0.650000	0.86243	GAA		0.318	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	Nonsense_Mutation
ADAM10	102	broad.mit.edu	37	15	58925426	58925426	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:58925426G>A	ENST00000260408.3	-	9	1588	c.1145C>T	c.(1144-1146)gCt>gTt	p.A382V	ADAM10_ENST00000396140.2_Missense_Mutation_p.A81V|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	382	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AACTTCGTGAGCAAAAGTAAT	0.328																																						uc002afd.1																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1144-1146)gCt>gTt		Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.							98.0	94.0	95.0					15																	58925426		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925426G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1145C>T	15.37:g.58925426G>A	ENSP00000260408:p.Ala382Val					ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron	p.A382V	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	8	1589	-			382			Peptidase M12B.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1145C>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314953	0.95655	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	D;D	0.92149	-2.98;-2.98	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96540	0.8871	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.96349	0.9257	10	0.66056	D	0.02	-20.4792	20.099	0.97865	0.0:0.0:1.0:0.0	.	81;382	B4DU28;O14672	.;ADA10_HUMAN	V	382;201;81	ENSP00000260408:A382V;ENSP00000379444:A81V	ENSP00000260408:A382V	A	-	2	0	ADAM10	56712718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.752000	0.94435	0.655000	0.94253	GCT		0.328	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110	
TMEM202	338949	broad.mit.edu	37	15	72700088	72700088	+	Missense_Mutation	SNP	G	G	A	rs143076809		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:72700088G>A	ENST00000341689.3	+	5	730	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	226						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGATGAAAACGTCACTGTGAT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19358	0.001		0.0	False		,,,				2504	0.0					uc002auq.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(676-678)Gtc>Atc		Homo sapiens transmembrane protein 202 (TMEM202), mRNA.		G	ILE/VAL	1,4397	2.1+/-5.4	0,1,2198	89.0	86.0	87.0		676	0.3	0.0	15	dbSNP_134	87	0,8594		0,0,4297	yes	missense	TMEM202	NM_001080462.1	29	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	226/274	72700088	1,12991	2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72700088G>A		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.676G>A	15.37:g.72700088G>A	ENSP00000340212:p.Val226Ile					TMEM202_uc002aur.3_Non-coding_Transcript	p.V226I	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			4	676	+			226						Missense_Mutation	SNP	ENST00000341689.3	37	c.676G>A	CCDS32287.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.910	0.736268	0.15574	2.27E-4	0.0	ENSG00000187806	ENST00000341689	T	0.50548	0.74	4.61	0.27	0.15635	.	0.724570	0.12009	N	0.508044	T	0.26629	0.0651	N	0.21097	0.63	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.16305	-1.0407	10	0.41790	T	0.15	-0.0498	1.6958	0.02862	0.1887:0.1609:0.485:0.1654	.	226	A6NGA9	TM202_HUMAN	I	226	ENSP00000340212:V226I	ENSP00000340212:V226I	V	+	1	0	TMEM202	70487142	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.057000	0.14279	0.175000	0.19841	-0.254000	0.11334	GTC		0.478	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462	
SCAMP5	192683	broad.mit.edu	37	15	75305137	75305137	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:75305137C>T	ENST00000361900.6	+	4	334	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	SCAMP5_ENST00000545456.1_Missense_Mutation_p.P24L|SCAMP5_ENST00000562212.1_Missense_Mutation_p.L43F|SCAMP5_ENST00000425597.3_Missense_Mutation_p.L43F|SCAMP5_ENST00000565923.1_3'UTR	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	43					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CCTCTACTACCTCTGGATGTG	0.607																																						uc002azn.2																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(127-129)Ctc>Ttc		Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.							72.0	72.0	72.0					15																	75305137		2050	4192	6242	SO:0001583	missense	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75305137C>T	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.127C>T	15.37:g.75305137C>T	ENSP00000355387:p.Leu43Phe					SCAMP5_uc002azl.2_Missense_Mutation_p.L43F|SCAMP5_uc002azm.2_Missense_Mutation_p.L43F|SCAMP5_uc002azk.2_Missense_Mutation_p.L43F|SCAMP5_uc010uly.2_Missense_Mutation_p.P24L	p.L43F	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN			2	314	+			43					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	c.127C>T	CCDS45306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.356580|4.356580	0.82243|0.82243	.|.	.|.	ENSG00000198794|ENSG00000198794	ENST00000361900;ENST00000425597|ENST00000545456	T;T|T	0.21031|0.21734	2.03;2.03|1.99	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.125475|.	0.56097|.	D|.	0.000034|.	T|T	0.30230|0.30230	0.0758|0.0758	M|M	0.84846|0.84846	2.72|2.72	0.31262|0.31262	N|N	0.69278|0.69278	D;D|B	0.76494|0.10296	0.999;0.999|0.003	D;D|B	0.83275|0.09377	0.964;0.996|0.004	T|T	0.28870|0.28870	-1.0030|-1.0030	10|9	0.66056|0.66056	D|D	0.02|0.02	-7.2444|-7.2444	10.5733|10.5733	0.45212|0.45212	0.0:0.912:0.0:0.088|0.0:0.912:0.0:0.088	.|.	43;43|24	Q8TAC9-2;Q8TAC9|Q8TAC9-3	.;SCAM5_HUMAN|.	F|L	43|24	ENSP00000355387:L43F;ENSP00000406547:L43F|ENSP00000439685:P24L	ENSP00000355387:L43F|ENSP00000439685:P24L	L|P	+|+	1|2	0|0	SCAMP5|SCAMP5	73092190|73092190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.716000|4.716000	0.61916|0.61916	2.488000|2.488000	0.83962|0.83962	0.609000|0.609000	0.83330|0.83330	CTC|CCT		0.607	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967	
CORO1A	11151	broad.mit.edu	37	16	30198720	30198720	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:30198720C>T	ENST00000219150.5	+	6	959	c.654C>T	c.(652-654)caC>caT	p.H218H	CORO1A_ENST00000565497.1_Silent_p.H218H|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000570045.1_Silent_p.H218H|RP11-455F5.5_ENST00000566144.1_RNA|RP11-455F5.5_ENST00000567153.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	218					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACCGTCCCCACGAGGGGACCC	0.667																																						uc010bzq.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(652-654)caC>caT		Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.							34.0	34.0	34.0					16																	30198720		2197	4300	6497	SO:0001819	synonymous_variant	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30198720C>T	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.654C>T	16.37:g.30198720C>T						BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.H218H|CORO1A_uc002dwx.3_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|CORO1A_uc002dwz.1_5'Flank	p.H218H	NM_001193333	NP_009005	P31146	COR1A_HUMAN			6	1089	+			218					B2RBL1|Q2YD73	Silent	SNP	ENST00000219150.5	37	c.654C>T	CCDS10673.1																																																																																				0.667	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074	
ARMC5	79798	broad.mit.edu	37	16	31471307	31471307	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:31471307C>T	ENST00000563544.1	+	2	1008	c.462C>T	c.(460-462)ggC>ggT	p.G154G	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Silent_p.G186G|ARMC5_ENST00000412665.2_5'UTR|ARMC5_ENST00000268314.4_Silent_p.G154G|ARMC5_ENST00000457010.2_Silent_p.G154G|ARMC5_ENST00000408912.3_Silent_p.G249G			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	154										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACTCGGAGGCATACTCCCTT	0.597																																						uc010vfn.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(745-747)ggC>ggT		Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.							53.0	57.0	56.0					16																	31471307		2026	4178	6204	SO:0001819	synonymous_variant	79798						binding	g.chr16:31471307C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.462C>T	16.37:g.31471307C>T						ARMC5_uc010vfo.2_Silent_p.G186G|ARMC5_uc002ecc.3_Silent_p.G154G|ARMC5_uc002eca.4_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G|ARMC5_uc010vfp.2_Silent_p.G154G	p.G249G	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			2	871	+			154					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.747C>T	CCDS45472.1																																																																																				0.597	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	
DNAAF1	123872	broad.mit.edu	37	16	84203678	84203678	+	Missense_Mutation	SNP	C	C	T	rs200666817		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:84203678C>T	ENST00000378553.5	+	8	1368	c.1244C>T	c.(1243-1245)aCc>aTc	p.T415I	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	415	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCAGAGGGGACCCTCCCAGCT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18013	0.001		0.0	False		,,,				2504	0.0					uc002fhl.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1243-1245)aCc>aTc		Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.							65.0	68.0	67.0					16																	84203678		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203678C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1244C>T	16.37:g.84203678C>T	ENSP00000367815:p.Thr415Ile					DNAAF1_uc010vnw.2_Missense_Mutation_p.T179I	p.T415I	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			7	1425	+			415			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1244C>T	CCDS10943.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.234	0.599825	0.13939	.	.	ENSG00000154099	ENST00000378553	T	0.25250	1.81	2.97	-5.94	0.02247	.	.	.	.	.	T	0.11665	0.0284	N	0.22421	0.69	0.09310	N	1	B;B	0.33171	0.4;0.248	B;B	0.33620	0.167;0.06	T	0.14615	-1.0466	9	0.39692	T	0.17	.	0.5471	0.00656	0.2346:0.1982:0.1589:0.4083	.	179;415	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	I	415	ENSP00000367815:T415I	ENSP00000367815:T415I	T	+	2	0	DNAAF1	82761179	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.205000	0.00559	-1.995000	0.00971	0.491000	0.48974	ACC		0.617	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACTCGGATAAGATGCTGAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L194R(84)|p.H193R(72)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.L194P(16)|p.L194H(14)|p.H193P(14)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.H193N(4)|p.P191_E198>Q(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.L194fs*14(2)|p.L194fs*52(2)|p.H193H(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.L101H(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.L194I(1)|p.I195fs*52(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(580-582)cTt>cGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							97.0	87.0	90.0					17																	7578268		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578268A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.3_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.2_Missense_Mutation_p.L155R	p.L194R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.581T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578542G>A	ENST00000269305.4	-	5	577	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TP53_ENST00000445888.2_Missense_Mutation_p.L130F|TP53_ENST00000455263.2_Missense_Mutation_p.L130F|TP53_ENST00000413465.2_Missense_Mutation_p.L130F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.L130F|TP53_ENST00000359597.4_Missense_Mutation_p.L130F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTTGTTGAGGGCAGGGGAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		65	Substitution - Missense(30)|Deletion - In frame(14)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)	p.L130F(26)|p.L130V(22)|p.Y126_K132delYSPALNK(12)|p.0?(8)|p.L130R(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130H(4)|p.L130fs*19(4)|p.L37F(3)|p.L130fs*41(3)|p.S127_Q136del10(2)|p.A129_L130insXX(2)|p.A129_N131delALN(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.L130fs*40(2)|p.Y126fs*11(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.N131fs*27(1)|p.A129G(1)|p.A129D(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(1)	large_intestine(11)|breast(9)|ovary(6)|upper_aerodigestive_tract(5)|lung(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|prostate(4)|bone(4)|urinary_tract(3)|oesophagus(3)|adrenal_gland(2)|stomach(2)|biliary_tract(1)|skin(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(388-390)Ctc>Ttc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							45.0	46.0	45.0					17																	7578542		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578542G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.388C>T	17.37:g.7578542G>A	ENSP00000269305:p.Leu130Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.3_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91F	p.L130F	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	582	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	130		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.388C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900016	0.72754	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99873	-7.38;-7.38;-7.38;-7.38;-7.38;-7.38;-7.38;-7.38	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.91300	3.195	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.988;1.0;0.999;0.96;1.0;1.0;0.999	D	0.96542	0.9401	10	0.87932	D	0	-29.0594	17.2272	0.86973	0.0:0.0:1.0:0.0	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130F;ENSP00000352610:L130F;ENSP00000269305:L130F;ENSP00000398846:L130F;ENSP00000391127:L130F;ENSP00000391478:L130F;ENSP00000423862:L37F;ENSP00000424104:L130F	ENSP00000269305:L130F	L	-	1	0	TP53	7519267	1.000000	0.71417	0.930000	0.37139	0.764000	0.43329	5.638000	0.67861	2.733000	0.93635	0.655000	0.94253	CTC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
RCVRN	5957	broad.mit.edu	37	17	9808118	9808118	+	Splice_Site	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:9808118A>G	ENST00000226193.5	-	1	820	c.380T>C	c.(379-381)aTg>aCg	p.M127T		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	127	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GAGACTGACCATGACGATCTC	0.642																																						uc002gme.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.e1+1		Homo sapiens recoverin (RCVRN), mRNA.							120.0	98.0	106.0					17																	9808118		2203	4300	6503	SO:0001630	splice_region_variant	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9808118A>G	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.381+1T>C	17.37:g.9808118A>G							p.M127_splice	NM_002903	NP_002894	P35243	RECO_HUMAN			1	568	-			127			EF-hand 3.		Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	c.381_splice	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	A	0.470	-0.885097	0.02511	.	.	ENSG00000109047	ENST00000226193	T	0.69806	-0.43	4.86	1.42	0.22433	EF-hand-like domain (1);	0.293324	0.39341	N	0.001394	T	0.28599	0.0708	N	0.00991	-1.07	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04103	-1.0977	10	0.11485	T	0.65	.	6.8217	0.23861	0.6148:0.0:0.3852:0.0	.	127	P35243	RECO_HUMAN	T	127	ENSP00000226193:M127T	ENSP00000226193:M127T	M	-	2	0	RCVRN	9748843	0.006000	0.16342	1.000000	0.80357	0.123000	0.20343	-0.023000	0.12456	0.313000	0.23062	-0.256000	0.11100	ATG		0.642	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903	Missense_Mutation
MYH4	4622	broad.mit.edu	37	17	10358321	10358321	+	Missense_Mutation	SNP	C	C	T	rs144778193		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10358321C>T	ENST00000255381.2	-	21	2482	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	791	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R791H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCTTGAGTGCGCGTGATGAG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		18143	0.001		0.0	False		,,,				2504	0.0					uc002gmn.3																			1	Substitution - Missense(1)	p.R791H(2)|p.T790M(2)	endometrium(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2371-2373)cGc>cAc		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							303.0	136.0	193.0					17																	10358321		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10358321C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2372G>A	17.37:g.10358321C>T	ENSP00000255381:p.Arg791His					AK097500_uc002gml.1_Intron	p.R791H	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			20	2483	-			791			IQ.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2372G>A	CCDS11154.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.85	1.761064	0.31137	.	.	ENSG00000141048	ENST00000255381	T	0.72051	-0.62	5.04	3.03	0.35002	.	0.000000	0.38272	U	0.001748	T	0.59742	0.2216	L	0.52126	1.63	0.41433	D	0.987876	B	0.12013	0.005	B	0.08055	0.003	T	0.50709	-0.8796	10	0.15066	T	0.55	.	10.3349	0.43844	0.0:0.7863:0.0:0.2137	.	791	Q9Y623	MYH4_HUMAN	H	791	ENSP00000255381:R791H	ENSP00000255381:R791H	R	-	2	0	MYH4	10299046	0.000000	0.05858	0.998000	0.56505	0.954000	0.61252	-0.118000	0.10692	0.631000	0.30412	0.313000	0.20887	CGC		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH1	4619	broad.mit.edu	37	17	10419368	10419368	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10419368T>A	ENST00000226207.5	-	5	474	c.380A>T	c.(379-381)aAc>aTc	p.N127I	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	127	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTGTAGGGGTTGACAGTGAC	0.488																																						uc002gmo.3																			0		p.V126I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(379-381)aAc>aTc		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							102.0	104.0	103.0					17																	10419368		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419368T>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.380A>T	17.37:g.10419368T>A	ENSP00000226207:p.Asn127Ile					AK097500_uc002gml.1_Intron	p.N127I	NM_005963	NP_005954	P12882	MYH1_HUMAN			4	474	-			127			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.380A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731474	0.89390	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.96745	-4.11	5.81	5.81	0.92471	Myosin head, motor domain (3);	0.000000	0.47093	U	0.000248	D	0.99239	0.9735	H	0.99948	5.02	0.80722	D	1	D	0.64830	0.994	D	0.76575	0.988	D	0.98266	1.0501	10	0.87932	D	0	.	16.158	0.81680	0.0:0.0:0.0:1.0	.	127	P12882	MYH1_HUMAN	I	127	ENSP00000226207:N127I	ENSP00000226207:N127I	N	-	2	0	MYH1	10360093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.030000	0.88816	2.206000	0.71126	0.533000	0.62120	AAC		0.488	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
ASIC2	40	broad.mit.edu	37	17	31341024	31341024	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:31341024G>T	ENST00000359872.6	-	10	2259	c.1498C>A	c.(1498-1500)Ctg>Atg	p.L500M	ASIC2_ENST00000225823.2_Missense_Mutation_p.L551M	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	500					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GTCGTCTGCAGGGGCACGTTC	0.557																																						uc002hht.3																			0											c.(1651-1653)Ctg>Atg		Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	Amiloride(DB00594)						159.0	121.0	134.0					17																	31341024		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31341024G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1498C>A	17.37:g.31341024G>T	ENSP00000352934:p.Leu500Met					ASIC2_uc002hhu.3_Missense_Mutation_p.L500M	p.L551M	NM_183377	NP_899233	Q16515	ACCN1_HUMAN			9	2524	-			500					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1651C>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	g	15.93	2.978843	0.53720	.	.	ENSG00000108684	ENST00000225823;ENST00000359872	T;T	0.67698	-0.04;-0.28	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000018	T	0.72020	0.3409	L	0.44542	1.39	0.58432	D	0.999992	D;P	0.55605	0.972;0.955	P;P	0.58780	0.845;0.707	T	0.70339	-0.4899	10	0.34782	T	0.22	-26.7821	15.7526	0.77997	0.0:0.0:1.0:0.0	.	500;551	Q16515;E9PBX2	ACCN1_HUMAN;.	M	551;500	ENSP00000225823:L551M;ENSP00000352934:L500M	ENSP00000225823:L551M	L	-	1	2	ACCN1	28365137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.399000	0.59703	2.325000	0.78763	0.561000	0.74099	CTG		0.557	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
ERBB2	2064	broad.mit.edu	37	17	37866667	37866667	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:37866667G>A	ENST00000269571.5	+	7	993	c.834G>A	c.(832-834)acG>acA	p.T278T	ERBB2_ENST00000578199.1_Silent_p.T248T|ERBB2_ENST00000540042.1_Silent_p.T248T|ERBB2_ENST00000540147.1_Silent_p.T248T|ERBB2_ENST00000541774.1_Silent_p.T263T|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000406381.2_Silent_p.T248T|ERBB2_ENST00000584450.1_Silent_p.T278T|ERBB2_ENST00000584601.1_Silent_p.T248T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	278					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACACAGACACGTTTGAGTCCA	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.3		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(832-834)acG>acA		Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						107.0	88.0	95.0					17																	37866667		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37866667G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.834G>A	17.37:g.37866667G>A		TCGA GBM(5;<1E-08)				ERBB2_uc010cwa.3_Silent_p.T263T|ERBB2_uc002hsm.3_Silent_p.T248T|ERBB2_uc002hsp.3_Silent_p.T81T|ERBB2_uc010cwb.3_Silent_p.T278T|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T	p.T278T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	6	1072	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	278					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.834G>A	CCDS32642.1																																																																																				0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
DNAH17	8632	broad.mit.edu	37	17	76457727	76457727	+	Missense_Mutation	SNP	C	C	T	rs557988732		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:76457727C>T	ENST00000585328.1	-	58	9347	c.9223G>A	c.(9223-9225)Gca>Aca	p.A3075T	DNAH17_ENST00000389840.5_Missense_Mutation_p.A3066T|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3066	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTTGGTCTGCGCTCTCATTC	0.527																																						uc010dhp.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9238-9240)Gca>Aca		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							85.0	63.0	70.0					17																	76457727		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76457727C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9223G>A	17.37:g.76457727C>T	ENSP00000465516:p.Ala3075Thr					DNAH17_uc002jvs.3_Non-coding_Transcript	p.A3080T	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9363	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9238G>A		.	.	.	.	.	.	.	.	.	.	C	8.351	0.830970	0.16820	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80214	-1.35	4.35	4.35	0.52113	.	0.000000	0.50627	D	0.000119	T	0.69287	0.3094	L	0.43701	1.375	0.20873	N	0.999836	P	0.50443	0.935	B	0.38712	0.28	T	0.65170	-0.6233	10	0.42905	T	0.14	.	8.2512	0.31724	0.0:0.8155:0.0:0.1845	.	3075	E7EUM8	.	T	3075;3066	ENSP00000374490:A3066T	ENSP00000300671:A3075T	A	-	1	0	DNAH17	73969322	0.990000	0.36364	0.781000	0.31783	0.100000	0.18952	2.867000	0.48428	1.960000	0.56953	0.563000	0.77884	GCA		0.527	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
DSG3	1830	broad.mit.edu	37	18	29046572	29046572	+	Silent	SNP	C	C	T	rs377026548		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29046572C>T	ENST00000257189.4	+	11	1574	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	497	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTCCTCGAAAAAGATG	0.418																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1489-1491)ctC>ctT		Homo sapiens desmoglein 3 (DSG3), mRNA.		C		0,4406		0,0,2203	157.0	142.0	147.0		1491	-11.5	0.0	18		147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DSG3	NM_001944.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		497/1000	29046572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046572C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1491C>T	18.37:g.29046572C>T							p.L497L	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		10	1600	+			497			Cadherin 4.		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.1491C>T	CCDS11898.1																																																																																				0.418	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
DSG3	1830	broad.mit.edu	37	18	29055684	29055684	+	Missense_Mutation	SNP	G	G	A	rs148716637		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29055684G>A	ENST00000257189.4	+	16	2544	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	821					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGAAGGCGCAGATGCCAC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		18899	0.0		0.0	False		,,,				2504	0.001					uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2461-2463)Gca>Aca		Homo sapiens desmoglein 3 (DSG3), mRNA.							127.0	120.0	123.0					18																	29055684		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055684G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2461G>A	18.37:g.29055684G>A	ENSP00000257189:p.Ala821Thr					DSG3_uc002kwt.3_Missense_Mutation_p.A103T	p.A821T	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2570	+			821					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2461G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.389378	0.01185	.	.	ENSG00000134757	ENST00000257189	T	0.76578	-1.03	5.78	-11.6	0.00059	Cadherin, cytoplasmic domain (1);	1.763180	0.03299	N	0.188674	T	0.50000	0.1590	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.46205	-0.9208	10	0.12103	T	0.63	.	12.4931	0.55912	0.5937:0.2664:0.1399:0.0	.	821	P32926	DSG3_HUMAN	T	821	ENSP00000257189:A821T	ENSP00000257189:A821T	A	+	1	0	DSG3	27309682	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.514000	0.02254	-3.158000	0.00228	-0.844000	0.03045	GCA		0.468	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
SERPINB12	89777	broad.mit.edu	37	18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T	rs200518644	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:61232706C>T	ENST00000269491.1	+	6	674	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SERPINB12_ENST00000382768.1_Missense_Mutation_p.T245M	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	225					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		20293	0.0		0.0	False		,,,				2504	0.002					uc010xeo.2																			1	Substitution - Missense(1)	p.T225M(1)	lung(1)	kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(733-735)aCg>aTg		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.							146.0	131.0	136.0					18																	61232706		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61232706C>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.674C>T	18.37:g.61232706C>T	ENSP00000269491:p.Thr225Met					SERPINB12_uc010xen.2_Missense_Mutation_p.T225M	p.T245M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			5	734	+			225					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.734C>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	2.661	-0.279765	0.05642	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82803	-1.65;-1.65	5.35	0.44	0.16572	Serpin domain (3);	1.245950	0.05373	N	0.535732	T	0.69993	0.3173	N	0.21194	0.64	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.0	T	0.54456	-0.8291	10	0.42905	T	0.14	.	3.0124	0.06048	0.5129:0.1228:0.065:0.2993	.	245;225	Q3SYB4;Q96P63	.;SPB12_HUMAN	M	225;245	ENSP00000269491:T225M;ENSP00000372218:T245M	ENSP00000269491:T225M	T	+	2	0	SERPINB12	59383686	0.007000	0.16637	0.031000	0.17742	0.015000	0.08874	0.748000	0.26305	0.131000	0.18576	-0.769000	0.03391	ACG		0.488	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	
VMAC	400673	broad.mit.edu	37	19	5909016	5909016	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:5909016G>A	ENST00000339485.3	+	2	406	c.373G>A	c.(373-375)Gag>Aag	p.E125K	AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_5'Flank|AC104532.2_ENST00000588891.1_Intron	NM_001017921.3	NP_001017921.1	Q2NL98	VMAC_HUMAN	vimentin-type intermediate filament associated coiled-coil protein	125						cytoplasm (GO:0005737)				lung(1)	1						GGCTGAGGCTGAGCGCCTGGG	0.721																																						uc002mds.4																			0				lung(1)	1						c.(373-375)Gag>Aag		Homo sapiens vimentin-type intermediate filament associated coiled-coil protein (VMAC), mRNA.							11.0	12.0	12.0					19																	5909016		2191	4266	6457	SO:0001583	missense	400673					cytoplasm		g.chr19:5909016G>A	BC110802	CCDS32881.1	19p13.3	2012-04-23			ENSG00000187650	ENSG00000187650			33803	protein-coding gene	gene with protein product						14985129	Standard	NM_001017921		Approved		uc002mds.4	Q2NL98		ENST00000339485.3:c.373G>A	19.37:g.5909016G>A	ENSP00000343348:p.Glu125Lys						p.E125K	NM_001017921	NP_001017921	Q2NL98	VMAC_HUMAN			1	423	+			125					B3KW55	Missense_Mutation	SNP	ENST00000339485.3	37	c.373G>A	CCDS32881.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900739	0.72754	.	.	ENSG00000187650	ENST00000339485	.	.	.	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.76449	0.3989	M	0.69823	2.125	0.51767	D	0.999935	D	0.76494	0.999	D	0.80764	0.994	T	0.79320	-0.1852	9	0.72032	D	0.01	-22.0411	12.8069	0.57618	0.0:0.0:1.0:0.0	.	125	Q2NL98	VMAC_HUMAN	K	125	.	ENSP00000343348:E125K	E	+	1	0	VMAC	5860016	1.000000	0.71417	0.971000	0.41717	0.322000	0.28314	6.094000	0.71431	2.090000	0.63153	0.561000	0.74099	GAG		0.721	VMAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452220.2	NM_001017921	
CERS4	79603	broad.mit.edu	37	19	8316117	8316117	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:8316117C>T	ENST00000251363.5	+	3	457	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	CERS4_ENST00000595722.1_Intron|CERS4_ENST00000558331.1_Missense_Mutation_p.R2C|CERS4_ENST00000559450.1_Missense_Mutation_p.R53C|CERS4_ENST00000559336.1_Missense_Mutation_p.R53C	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	53					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTGGCCATGCGCCTTGCCTT	0.627																																						uc002mjg.3																			0											c.(157-159)Cgc>Tgc		Homo sapiens ceramide synthase 4 (CERS4), mRNA.							95.0	97.0	96.0					19																	8316117		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8316117C>T		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.157C>T	19.37:g.8316117C>T	ENSP00000251363:p.Arg53Cys					CERS4_uc002mji.3_Intron|CERS4_uc010dvz.3_Missense_Mutation_p.R53C	p.R53C	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN			2	477	+			53					D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.157C>T	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327582	0.41197	.	.	ENSG00000090661	ENST00000251363	T	0.75821	-0.97	4.22	3.07	0.35406	.	0.000000	0.64402	D	0.000001	D	0.87740	0.6253	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89297	0.3623	10	0.87932	D	0	-25.8631	9.8945	0.41309	0.2187:0.7813:0.0:0.0	.	53;53	Q53HF9;Q9HA82	.;CERS4_HUMAN	C	53	ENSP00000251363:R53C	ENSP00000251363:R53C	R	+	1	0	CERS4	8222117	0.605000	0.26941	0.130000	0.21974	0.309000	0.27889	1.094000	0.30951	1.917000	0.55516	0.460000	0.39030	CGC		0.627	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552	
MUC16	94025	broad.mit.edu	37	19	8966765	8966765	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:8966765C>T	ENST00000397910.4	-	81	43391	c.43188G>A	c.(43186-43188)tcG>tcA	p.S14396S	MUC16_ENST00000380951.5_Silent_p.S1037S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14494				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGTGGCGAGAAGTTAC	0.527																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(43186-43188)tcG>tcA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							27.0	31.0	29.0					19																	8966765		1958	4136	6094	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8966765C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43188G>A	19.37:g.8966765C>T						MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S1196S|MUC16_uc021uog.1_Non-coding_Transcript	p.S14396S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			80	43392	-			14494	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.43188G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.585	-0.530574	0.04112	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.22	-0.708	0.11241	.	1.029670	0.07728	N	0.944810	T	0.27663	0.0680	.	.	.	.	.	.	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	.	4.1107	0.10057	0.0:0.3062:0.1787:0.5151	.	.	.	.	H	1219	.	.	R	-	2	0	MUC16	8827765	0.000000	0.05858	0.017000	0.16124	0.013000	0.08279	-3.159000	0.00578	-0.283000	0.09115	-1.295000	0.01343	CGC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9057573	9057573	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:9057573G>A	ENST00000397910.4	-	3	30076	c.29873C>T	c.(29872-29874)aCc>aTc	p.T9958I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9960	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTTTTTGGGTGGTGATGGT	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29872-29874)aCc>aTc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							256.0	250.0	252.0					19																	9057573		1978	4169	6147	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057573G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29873C>T	19.37:g.9057573G>A	ENSP00000381008:p.Thr9958Ile						p.T9958I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	30077	-			9960			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29873C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.684	0.310700	0.10733	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	2.5	-4.03	0.04021	.	.	.	.	.	T	0.01523	0.0049	N	0.14661	0.345	.	.	.	P	0.46512	0.879	B	0.39660	0.306	T	0.37549	-0.9701	8	0.87932	D	0	.	1.0669	0.01612	0.192:0.3749:0.2412:0.1919	.	9958	B5ME49	.	I	9958	ENSP00000381008:T9958I	ENSP00000381008:T9958I	T	-	2	0	MUC16	8918573	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.577000	0.05847	-0.806000	0.04398	0.460000	0.39030	ACC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF443	10224	broad.mit.edu	37	19	12543219	12543219	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:12543219G>T	ENST00000301547.5	-	3	360	c.163C>A	c.(163-165)Caa>Aaa	p.Q55K	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATCTATATTGATCTTCAATG	0.294																																						uc002mtu.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(163-165)Caa>Aaa		Homo sapiens zinc finger protein 443 (ZNF443), mRNA.							69.0	77.0	74.0					19																	12543219		2201	4292	6493	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12543219G>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.163C>A	19.37:g.12543219G>T	ENSP00000301547:p.Gln55Lys						p.Q55K	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			2	361	-			55			KRAB.			Missense_Mutation	SNP	ENST00000301547.5	37	c.163C>A	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	G	6.120	0.390380	0.11581	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.00792	5.69	1.13	1.13	0.20643	Krueppel-associated box (3);	.	.	.	.	T	0.00608	0.0020	N	0.21617	0.685	0.20873	N	0.999839	B	0.20671	0.047	B	0.14023	0.01	T	0.46693	-0.9173	9	0.26408	T	0.33	.	3.5149	0.07721	0.2599:0.0:0.74:0.0	.	55	Q9Y2A4	ZN443_HUMAN	K	55	ENSP00000301547:Q55K	ENSP00000301547:Q55K	Q	-	1	0	ZNF443	12404219	0.000000	0.05858	0.084000	0.20598	0.179000	0.23085	-0.854000	0.04299	0.960000	0.38005	0.433000	0.28618	CAA		0.294	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
OR7A17	26333	broad.mit.edu	37	19	14991689	14991689	+	Missense_Mutation	SNP	C	C	A	rs374628001		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:14991689C>A	ENST00000327462.2	-	1	575	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TACCATTAAGCTTTGTGACAA	0.483																																						uc010xob.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(478-480)aGc>aTc		Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.							108.0	101.0	104.0					19																	14991689		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991689C>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.479G>T	19.37:g.14991689C>A	ENSP00000328144:p.Ser160Ile						p.S160I	NM_030901	NP_112163	O14581	OR7AH_HUMAN			0	479	-	Ovarian(108;0.203)		160					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.479G>T	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	c	9.372	1.070724	0.20147	.	.	ENSG00000185385	ENST00000327462	T	0.00058	8.79	3.37	-0.485	0.12067	GPCR, rhodopsin-like superfamily (1);	0.611647	0.13129	U	0.411585	T	0.00144	0.0004	N	0.21097	0.63	0.09310	N	1	B	0.25850	0.136	B	0.43052	0.406	T	0.06826	-1.0805	10	0.33940	T	0.23	.	7.1905	0.25822	0.0:0.3676:0.5264:0.106	.	160	O14581	OR7AH_HUMAN	I	160	ENSP00000328144:S160I	ENSP00000328144:S160I	S	-	2	0	OR7A17	14852689	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.452000	0.06787	-0.055000	0.13244	-0.662000	0.03851	AGC		0.483	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901	
ZNF208	7757	broad.mit.edu	37	19	22155210	22155210	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:22155210G>T	ENST00000397126.4	-	4	2774	c.2626C>A	c.(2626-2628)Ctt>Att	p.L876I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	876					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L776I(2)|p.L876I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGGC	0.363																																						uc021urr.1																			3	Substitution - Missense(3)	p.L776I(2)|p.L876I(1)	lung(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2626-2628)Ctt>Att		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							44.0	46.0	45.0					19																	22155210		2050	4220	6270	SO:0001583	missense	7757							g.chr19:22155210G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2626C>A	19.37:g.22155210G>T	ENSP00000380315:p.Leu876Ile					ZNF208_uc002nqo.1_Intron	p.L876I	NM_007153	NP_009084					3	2775	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2626C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979957	0.18812	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.53857	0.6	2.58	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64832	0.2634	.	.	.	0.09310	N	1	P	0.46395	0.877	D	0.66716	0.946	T	0.52990	-0.8501	8	0.87932	D	0	.	4.9109	0.13821	0.3232:0.0:0.6768:0.0	.	776	O43345	ZN208_HUMAN	I	876;776	ENSP00000380315:L876I	ENSP00000380315:L876I	L	-	1	0	ZNF208	21947050	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.375000	0.07475	0.115000	0.18071	0.289000	0.19496	CTT		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
MAG	4099	broad.mit.edu	37	19	35801000	35801000	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:35801000C>T	ENST00000392213.3	+	8	1614	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	MAG_ENST00000537831.2_Silent_p.R460R|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Silent_p.R485R	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	485	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCCCGCGTCATCTGCA	0.697																																						uc002nyy.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1453-1455)cgC>cgT		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.							34.0	34.0	34.0					19																	35801000		2202	4296	6498	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35801000C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1455C>T	19.37:g.35801000C>T						MAG_uc002nyx.2_Silent_p.R485R|MAG_uc010eds.2_Silent_p.R460R|MAG_uc002nyz.2_Silent_p.R485R	p.R485R	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1653	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	485			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1455C>T	CCDS12455.1																																																																																				0.697	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
CGB7	94027	broad.mit.edu	37	19	49557640	49557640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:49557640G>A	ENST00000597853.1	-	5	3277	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	CGB7_ENST00000377280.3_Nonsense_Mutation_p.Q136*|CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000356213.4_Nonsense_Mutation_p.Q134*|CGB7_ENST00000596965.1_Nonsense_Mutation_p.Q136*			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	136					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAGGAGGCCTGGAAGCGGGGG	0.647																																						uc002pmd.3																			0				pancreas(1)	1						c.(406-408)Cag>Tag		Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	Choriogonadotropin alfa(DB00097)						17.0	17.0	17.0					19																	49557640		1498	2655	4153	SO:0001587	stop_gained	94027				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49557640G>A	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.406C>T	19.37:g.49557640G>A	ENSP00000470813:p.Gln136*					CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Nonsense_Mutation_p.Q136*	p.Q136*	NM_033142	NP_149133	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	1626	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	136					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Nonsense_Mutation	SNP	ENST00000597853.1	37	c.406C>T	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	g	13.47	2.245733	0.39697	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	.	.	.	1.3	1.3	0.21679	.	1.113020	0.06697	N	0.770711	.	.	.	.	.	.	0.42246	D	0.991959	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.5788	5.9853	0.19430	0.0:0.0:1.0:0.0	.	.	.	.	X	136;134	.	ENSP00000348545:Q134X	Q	-	1	0	CGB7	54249452	1.000000	0.71417	0.028000	0.17463	0.014000	0.08584	2.177000	0.42509	1.021000	0.39600	0.197000	0.17608	CAG		0.647	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142	
ZNF28	7576	broad.mit.edu	37	19	53304049	53304049	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:53304049G>T	ENST00000457749.2	-	4	1168	c.1049C>A	c.(1048-1050)aCt>aAt	p.T350N	ZNF28_ENST00000414252.2_Missense_Mutation_p.T297N|ZNF28_ENST00000438150.2_Missense_Mutation_p.T297N|ZNF28_ENST00000360272.4_Missense_Mutation_p.T297N	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCCAGTGTGAATTAT	0.373																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1048-1050)aCt>aAt		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							93.0	96.0	95.0					19																	53304049		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304049G>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1049C>A	19.37:g.53304049G>T	ENSP00000397693:p.Thr350Asn					ZNF28_uc002qac.3_Missense_Mutation_p.T296N|ZNF28_uc010eqe.3_Missense_Mutation_p.T296N|ZNF28_uc021uza.1_Missense_Mutation_p.T297N	p.T350N	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	1206	-			350					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1049C>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.97	1.500315	0.26861	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	1.74	0.511	0.16989	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41719	0.1171	L	0.53671	1.685	0.21984	N	0.999436	P	0.46142	0.873	D	0.67382	0.951	T	0.24225	-1.0166	9	0.72032	D	0.01	.	8.6557	0.34062	0.0:0.2394:0.7606:0.0	.	350	P17035	ZNF28_HUMAN	N	297;350;297;297;297	ENSP00000412143:T297N;ENSP00000397693:T350N;ENSP00000353410:T297N;ENSP00000444965:T297N;ENSP00000375661:T297N	ENSP00000353410:T297N	T	-	2	0	ZNF28	57995861	0.856000	0.29760	0.600000	0.28864	0.161000	0.22273	1.369000	0.34227	0.042000	0.15717	0.186000	0.17326	ACT		0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
NLRP7	199713	broad.mit.edu	37	19	55451268	55451268	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:55451268T>C	ENST00000590030.1	-	3	959	c.919A>G	c.(919-921)Agg>Ggg	p.R307G	NLRP7_ENST00000446217.1_Missense_Mutation_p.R335G|NLRP7_ENST00000592784.1_Missense_Mutation_p.R307G|NLRP7_ENST00000588756.1_Missense_Mutation_p.R307G|NLRP7_ENST00000448121.2_Missense_Mutation_p.R307G|NLRP7_ENST00000340844.2_Missense_Mutation_p.R307G|NLRP7_ENST00000328092.5_Missense_Mutation_p.R307G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	307	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGGTCCCTCAGTGCCCTG	0.617																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(919-921)Agg>Ggg		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							40.0	40.0	40.0					19																	55451268		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451268T>C	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.919A>G	19.37:g.55451268T>C	ENSP00000465520:p.Arg307Gly					NLRP7_uc010esk.3_Missense_Mutation_p.R307G|NLRP7_uc002qig.4_Missense_Mutation_p.R307G|NLRP7_uc002qii.4_Missense_Mutation_p.R307G|NLRP7_uc010esl.3_Missense_Mutation_p.R335G	p.R307G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	995	-			307			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.919A>G	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	7.616	0.675910	0.14841	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	1.77	0.67	0.17923	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.71151	0.3306	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.32203	0.36;0.235;0.36;0.311	B;B;B;B	0.35770	0.21;0.21;0.21;0.134	T	0.60469	-0.7257	9	0.48119	T	0.1	.	5.9289	0.19128	0.0:0.0:0.2686:0.7314	.	335;307;307;307	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	G	307;307;307;335	ENSP00000329568:R307G;ENSP00000409137:R307G;ENSP00000339491:R307G;ENSP00000414273:R335G	ENSP00000329568:R307G	R	-	1	2	NLRP7	60143080	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.610000	0.05629	0.124000	0.18369	0.379000	0.24179	AGG		0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP5	126206	broad.mit.edu	37	19	56549462	56549462	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:56549462T>C	ENST00000390649.3	+	10	2687	c.2687T>C	c.(2686-2688)cTg>cCg	p.L896P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	896					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCCCAGCCTGAAATCTCTG	0.547																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2686-2688)cTg>cCg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							103.0	105.0	104.0					19																	56549462		2044	4197	6241	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56549462T>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2687T>C	19.37:g.56549462T>C	ENSP00000375063:p.Leu896Pro					NLRP5_uc002qmi.3_Missense_Mutation_p.L877P	p.L896P	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	9	2687	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	896					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2687T>C	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586262	0.28268	.	.	ENSG00000171487	ENST00000390649	T	0.75477	-0.94	3.66	3.66	0.41972	.	0.000000	0.27473	N	0.019219	D	0.89577	0.6755	H	0.97587	4.035	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	D	0.90847	0.4728	10	0.87932	D	0	.	9.2313	0.37439	0.0:0.0:0.0:1.0	.	896	P59047	NALP5_HUMAN	P	896	ENSP00000375063:L896P	ENSP00000375063:L896P	L	+	2	0	NLRP5	61241274	0.312000	0.24545	0.839000	0.33178	0.040000	0.13550	3.841000	0.55850	1.603000	0.50134	0.533000	0.62120	CTG		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
NCOA1	8648	broad.mit.edu	37	2	24929877	24929877	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:24929877C>T	ENST00000406961.1	+	13	2190	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	NCOA1_ENST00000405141.1_Missense_Mutation_p.S513L|NCOA1_ENST00000348332.3_Missense_Mutation_p.S513L|NCOA1_ENST00000407230.1_Missense_Mutation_p.S362L|NCOA1_ENST00000288599.5_Missense_Mutation_p.S513L|NCOA1_ENST00000395856.3_Missense_Mutation_p.S513L|NCOA1_ENST00000538539.1_Missense_Mutation_p.S513L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	513	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAATATTTCGACATTAAGC	0.418			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.3				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(1537-1539)tCg>tTg		Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.							88.0	93.0	91.0					2																	24929877		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929877C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1538C>T	2.37:g.24929877C>T	ENSP00000385216:p.Ser513Leu					NCOA1_uc010eye.3_Missense_Mutation_p.S513L|NCOA1_uc002rfi.3_Missense_Mutation_p.S362L|NCOA1_uc002rfj.3_Missense_Mutation_p.S513L|NCOA1_uc002rfl.3_Missense_Mutation_p.S513L	p.S513L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			10	1797	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		513			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1538C>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837483	0.50951	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02015	4.62;4.62;4.5;4.62;4.62;4.62;4.62	5.22	5.22	0.72569	.	0.217379	0.48286	D	0.000199	T	0.02533	0.0077	N	0.22421	0.69	0.28744	N	0.901825	B;B;B;B	0.30526	0.283;0.186;0.098;0.118	B;B;B;B	0.24394	0.053;0.014;0.04;0.012	T	0.39742	-0.9599	10	0.49607	T	0.09	.	18.7358	0.91753	0.0:1.0:0.0:0.0	.	513;513;513;362	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	L	513;513;362;513;513;513;513	ENSP00000385216:S513L;ENSP00000385097:S513L;ENSP00000385195:S362L;ENSP00000444039:S513L;ENSP00000320940:S513L;ENSP00000288599:S513L;ENSP00000379197:S513L	ENSP00000288599:S513L	S	+	2	0	NCOA1	24783381	1.000000	0.71417	0.981000	0.43875	0.965000	0.64279	5.706000	0.68362	2.594000	0.87642	0.650000	0.86243	TCG		0.418	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223	
FAM179A	165186	broad.mit.edu	37	2	29268218	29268218	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:29268218T>A	ENST00000379558.4	+	19	3015	c.2664T>A	c.(2662-2664)gcT>gcA	p.A888A	FAM179A_ENST00000403861.2_Silent_p.A833A|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	888										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCGCTTGCTGGGCGAGTGC	0.627																																						uc010ezl.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2662-2664)gcT>gcA		Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.							108.0	108.0	108.0					2																	29268218		2203	4300	6503	SO:0001819	synonymous_variant	165186						binding	g.chr2:29268218T>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2664T>A	2.37:g.29268218T>A						FAM179A_uc010ymm.2_Silent_p.A833A|FAM179A_uc002rmr.4_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A	p.A888A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			18	3015	+			888					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2664T>A	CCDS1769.2																																																																																				0.627	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280	
CYP1B1	1545	broad.mit.edu	37	2	38302345	38302345	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:38302345C>T	ENST00000260630.3	-	2	588	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	CYP1B1_ENST00000407341.1_Missense_Mutation_p.A63T|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000589303.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	63					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	ACCGCCGCCGCGTTTCCGATC	0.721																																						uc002rqo.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(187-189)Gcg>Acg		Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	Estrone(DB00655)						6.0	8.0	7.0					2																	38302345		2106	4111	6217	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38302345C>T	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.187G>A	2.37:g.38302345C>T	ENSP00000260630:p.Ala63Thr						p.A63T	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			1	589	-		all_hematologic(82;0.21)	63					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.187G>A	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154379	0.57259	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.69926	-0.44;-0.44	4.42	4.42	0.53409	.	0.178825	0.48286	D	0.000199	T	0.80732	0.4679	M	0.77820	2.39	0.40277	D	0.978358	D	0.89917	1.0	D	0.71656	0.974	D	0.83820	0.0246	10	0.62326	D	0.03	.	14.5818	0.68298	0.0:1.0:0.0:0.0	.	63	Q53TK1	.	T	63	ENSP00000260630:A63T;ENSP00000384972:A63T	ENSP00000260630:A63T	A	-	1	0	CYP1B1	38155849	1.000000	0.71417	0.301000	0.25044	0.010000	0.07245	4.476000	0.60216	2.293000	0.77203	0.591000	0.81541	GCG		0.721	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104	
ALMS1	7840	broad.mit.edu	37	2	73651879	73651879	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:73651879T>A	ENST00000264448.6	+	5	1197	c.1086T>A	c.(1084-1086)gcT>gcA	p.A362A	ALMS1_ENST00000409009.1_Silent_p.A320A|ALMS1_ENST00000377715.1_Silent_p.A362A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	362					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAATTTAGCTGATAAAGATC	0.358																																						uc002sje.1																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(1084-1086)gcT>gcA		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.							87.0	79.0	82.0					2																	73651879		1863	4113	5976	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73651879T>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1086T>A	2.37:g.73651879T>A						ALMS1_uc002sjf.1_Silent_p.A320A	p.A362A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			4	1197	+			362					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.1086T>A	CCDS42697.1																																																																																				0.358	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
DQX1	165545	broad.mit.edu	37	2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T	rs200754645		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:74747143C>T	ENST00000404568.3	-	9	1733	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_ENST00000393951.2_Missense_Mutation_p.R505H	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	505						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527																																						uc010yrw.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1513-1515)cGt>cAt		Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.		C	HIS/ARG	0,4406		0,0,2203	73.0	77.0	75.0		1514	-4.2	0.1	2		75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DQX1	NM_133637.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	505/718	74747143	2,13004	2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74747143C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1514G>A	2.37:g.74747143C>T	ENSP00000384621:p.Arg505His					DQX1_uc002smc.3_Missense_Mutation_p.R66H	p.R505H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			8	1679	-			505					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1514G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531258	0.13127	0.0	2.33E-4	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02606	4.23;4.23	5.05	-4.21	0.03812	Helicase-associated domain (2);	1.081660	0.07063	N	0.834076	T	0.06462	0.0166	M	0.84156	2.68	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.87932	D	0	-16.1698	12.4638	0.55747	0.0:0.2756:0.0:0.7244	.	505	Q8TE96	DQX1_HUMAN	H	505	ENSP00000377523:R505H;ENSP00000384621:R505H	ENSP00000377523:R505H	R	-	2	0	DQX1	74600651	0.000000	0.05858	0.135000	0.22099	0.956000	0.61745	-0.348000	0.07740	-1.348000	0.02205	-1.202000	0.01658	CGT		0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
MRPL30	51263	broad.mit.edu	37	2	99811636	99811636	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:99811636G>C	ENST00000338148.3	+	5	535	c.337G>C	c.(337-339)Gtt>Ctt	p.V113L	C2orf15_ENST00000512183.2_Missense_Mutation_p.V113L|MRPL30_ENST00000410042.1_Missense_Mutation_p.V113L|MRPL30_ENST00000465432.1_3'UTR	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	113						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTGAAAGTAGTTAAGCATTT	0.333																																						uc002szu.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(337-339)Gtt>Ctt		Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							180.0	174.0	176.0					2																	99811636		2203	4300	6503	SO:0001583	missense	51263				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:99811636G>C	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.337G>C	2.37:g.99811636G>C	ENSP00000338057:p.Val113Leu					MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.3_Missense_Mutation_p.V113L|MRPL30_uc002szv.3_Missense_Mutation_p.V113L	p.V113L	NM_145212	NP_660213	Q8TCC3	RM30_HUMAN			4	535	+			113					A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	c.337G>C	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756927	0.69648	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409841	T;T;T	0.60797	0.16;0.16;0.16	4.43	4.43	0.53597	Ribosomal protein L30, ferredoxin-like fold domain (3);	0.206931	0.42964	D	0.000621	T	0.71221	0.3314	M	0.88377	2.95	0.37937	D	0.932202	D;P	0.59767	0.986;0.936	P;P	0.55260	0.772;0.64	T	0.78605	-0.2139	10	0.72032	D	0.01	-17.6991	8.5108	0.33215	0.103:0.0:0.897:0.0	.	113;113	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	L	113;126;113;113;113	ENSP00000420959:V113L;ENSP00000338057:V113L;ENSP00000386752:V113L	ENSP00000312464:V126L	V	+	1	0	C2orf15;MRPL30	99178068	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	1.834000	0.39171	2.455000	0.83008	0.655000	0.94253	GTT		0.333	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2		
IL36A	27179	broad.mit.edu	37	2	113763644	113763644	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:113763644G>A	ENST00000259211.6	+	2	515	c.104G>A	c.(103-105)aGg>aAg	p.R35K		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	35					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GCAGTCCCGAGGAAGGACCGT	0.512																																						uc010yxr.2																			0				large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						c.(103-105)aGg>aAg		Homo sapiens interleukin 36, alpha (IL36A), mRNA.							59.0	63.0	62.0					2																	113763644		2031	4195	6226	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113763644G>A	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.104G>A	2.37:g.113763644G>A	ENSP00000259211:p.Arg35Lys						p.R35K	NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN			1	104	+			35					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.104G>A	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663261	0.14710	.	.	ENSG00000136694	ENST00000259211	T	0.17213	2.29	4.69	2.88	0.33553	.	0.362885	0.23342	N	0.049229	T	0.10895	0.0266	L	0.45581	1.43	0.09310	N	1	B	0.25235	0.121	B	0.20384	0.029	T	0.33701	-0.9858	10	0.05833	T	0.94	16.6238	6.4216	0.21746	0.2158:0.0:0.7842:0.0	.	35	Q9UHA7	IL36A_HUMAN	K	35	ENSP00000259211:R35K	ENSP00000259211:R35K	R	+	2	0	IL36A	113480115	0.012000	0.17670	0.695000	0.30226	0.064000	0.16182	1.576000	0.36504	1.315000	0.45114	0.585000	0.79938	AGG		0.512	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440	
THSD7B	80731	broad.mit.edu	37	2	138420998	138420998	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:138420998T>C	ENST00000409968.1	+	26	4682	c.4504T>C	c.(4504-4506)Tca>Cca	p.S1502P	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1505P|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1474P			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1504						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATAATGAAATCAAATGGTTT	0.383																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4414-4416)Tca>Cca		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							99.0	93.0	95.0					2																	138420998		1873	4108	5981	SO:0001583	missense	80731							g.chr2:138420998T>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4504T>C	2.37:g.138420998T>C	ENSP00000387145:p.Ser1502Pro					THSD7B_uc010zbj.1_Non-coding_Transcript	p.S1472P	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	24	4414	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4414T>C		.	.	.	.	.	.	.	.	.	.	.	21.1	4.094384	0.76870	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.27402	2.19;2.06;1.67	6.02	6.02	0.97574	.	0.125987	0.56097	D	0.000038	T	0.54367	0.1854	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.55528	-0.8127	10	0.62326	D	0.03	.	16.5991	0.84804	0.0:0.0:0.0:1.0	.	1474	C9JKN6	.	P	1502;1505;1474	ENSP00000387145:S1502P;ENSP00000272643:S1505P;ENSP00000413841:S1474P	ENSP00000272643:S1505P	S	+	1	0	THSD7B	138137468	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.268000	0.43338	2.311000	0.77944	0.529000	0.55759	TCA		0.383	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
XIRP2	129446	broad.mit.edu	37	2	168106391	168106391	+	Missense_Mutation	SNP	G	G	A	rs368268974		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:168106391G>A	ENST00000409195.1	+	9	8578	c.8489G>A	c.(8488-8490)cGa>cAa	p.R2830Q	XIRP2_ENST00000295237.9_Missense_Mutation_p.R2830Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2608Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2655					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGATTGGTCGAAAAGAAGAG	0.398																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8488-8490)cGa>cAa		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.		G	,,,GLN/ARG,GLN/ARG	1,3669		0,1,1834	83.0	82.0	82.0		,,,8489,7823	-0.1	0.0	2		82	0,8182		0,0,4091	no	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,43,43	0,1,5925	AA,AG,GG		0.0,0.0272,0.0084	,,,benign,benign	,,,2830/3550,2608/3328	168106391	1,11851	1835	4091	5926	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106391G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8489G>A	2.37:g.168106391G>A	ENSP00000386840:p.Arg2830Gln					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.3_Intron	p.R2830Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8578	+			2655					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8489G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	3.359	-0.130810	0.06753	2.72E-4	0.0	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02395	4.31;4.31;4.31	6.02	-0.126	0.13515	.	0.898927	0.09612	N	0.778753	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.08055	0.001;0.003;0.003	T	0.50118	-0.8865	10	0.13853	T	0.58	4.7139	6.4035	0.21652	0.0:0.4535:0.1201:0.4265	.	2655;2655;2608	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	2830;2830;2608;244	ENSP00000386840:R2830Q;ENSP00000295237:R2830Q;ENSP00000387255:R2608Q	ENSP00000295237:R2830Q	R	+	2	0	XIRP2	167814637	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.015000	0.13355	-0.306000	0.08818	-1.289000	0.01358	CGA		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	broad.mit.edu	37	2	179431720	179431720	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179431720A>G	ENST00000591111.1	-	276	74440	c.74216T>C	c.(74215-74217)aTg>aCg	p.M24739T	TTN_ENST00000589042.1_Missense_Mutation_p.M26380T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M23812T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M17507T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M17440T|TTN_ENST00000460472.2_Missense_Mutation_p.M17315T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24739	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATTTTTCATTAGTACTGG	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(71434-71436)aTg>aCg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							133.0	131.0	131.0					2																	179431720		1862	4094	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431720A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74216T>C	2.37:g.179431720A>G	ENSP00000465570:p.Met24739Thr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M17507T|TTN_uc021vta.1_Missense_Mutation_p.M17440T|TTN_uc021vtb.1_Missense_Mutation_p.M17315T	p.M23812T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	71660	-			24739			Fibronectin type-III 73.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71435T>C		.	.	.	.	.	.	.	.	.	.	A	11.17	1.559720	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.62	5.62	0.85841	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.42404	0.1201	N	0.17838	0.53	0.80722	D	1	P;P;P;P	0.52842	0.915;0.915;0.915;0.956	B;B;B;P	0.47528	0.321;0.321;0.321;0.549	T	0.47497	-0.9113	9	0.87932	D	0	.	15.8218	0.78654	1.0:0.0:0.0:0.0	.	17315;17440;17507;24739	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	23812;17315;17507;17440;17313	ENSP00000343764:M23812T;ENSP00000434586:M17315T;ENSP00000340554:M17507T;ENSP00000352154:M17440T	ENSP00000340554:M17507T	M	-	2	0	TTN	179139966	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.281000	0.95811	2.131000	0.65755	0.379000	0.24179	ATG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179456867	179456867	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179456867C>T	ENST00000591111.1	-	252	55065	c.54841G>A	c.(54841-54843)Gcc>Acc	p.A18281T	TTN_ENST00000589042.1_Missense_Mutation_p.A19922T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17354T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11049T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10982T|TTN_ENST00000460472.2_Missense_Mutation_p.A10857T|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18281	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCACTGGGCGCTGGCAACA	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(52060-52062)Gcc>Acc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							74.0	72.0	73.0					2																	179456867		1935	4154	6089	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456867C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54841G>A	2.37:g.179456867C>T	ENSP00000465570:p.Ala18281Thr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A11049T|TTN_uc021vta.1_Missense_Mutation_p.A10982T|TTN_uc021vtb.1_Missense_Mutation_p.A10857T	p.A17354T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	52285	-			18281			Fibronectin type-III 26.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.52060G>A		.	.	.	.	.	.	.	.	.	.	C	9.848	1.192844	0.21954	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	6.03	4.22	0.49857	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32912	0.0845	N	0.11724	0.165	0.25706	N	0.985531	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.23691	-1.0181	9	0.87932	D	0	.	6.1867	0.20502	0.1277:0.5618:0.2436:0.0669	.	10857;10982;11049;18281	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17354;10857;11049;10982;10855	ENSP00000343764:A17354T;ENSP00000434586:A10857T;ENSP00000340554:A11049T;ENSP00000352154:A10982T	ENSP00000340554:A11049T	A	-	1	0	TTN	179165113	0.671000	0.27521	0.985000	0.45067	0.937000	0.57800	-0.044000	0.12023	0.861000	0.35504	0.557000	0.71058	GCC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179579856C>T	ENST00000591111.1	-	88	25330	c.25106G>A	c.(25105-25107)gGc>gAc	p.G8369D	TTN_ENST00000589042.1_Missense_Mutation_p.G8686D|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12543	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7442D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTTCTTGCCGCTCCTAAG	0.443																																						uc021vsy.1																			1	Substitution - Missense(1)	p.G7442D(1)	lung(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(22324-22326)gGc>gAc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							327.0	308.0	314.0					2																	179579856		1930	4126	6056	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579856C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25106G>A	2.37:g.179579856C>T	ENSP00000465570:p.Gly8369Asp					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D	p.G7442D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		86	22550	-			8369			Ig-like 56.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.22325G>A		.	.	.	.	.	.	.	.	.	.	C	16.73	3.205284	0.58234	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39963	0.1098	N	0.25825	0.765	0.80722	D	1	B	0.29671	0.254	B	0.35770	0.21	T	0.34925	-0.9809	9	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	8369	Q8WZ42	TITIN_HUMAN	D	7442	ENSP00000343764:G7442D	ENSP00000343764:G7442D	G	-	2	0	TTN	179288101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.672000	0.46850	2.653000	0.90120	0.655000	0.94253	GGC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SMARCAL1	50485	broad.mit.edu	37	2	217329391	217329391	+	Splice_Site	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:217329391G>A	ENST00000357276.4	+	13	2471		c.e13+1		SMARCAL1_ENST00000358207.5_Splice_Site	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATCTGTCATGTAAGTGGTCA	0.363									Schimke Immuno-Osseous Dysplasia																													uc002vgc.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.e13+1		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.							161.0	154.0	156.0					2																	217329391		2203	4300	6503	SO:0001630	splice_region_variant	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217329391G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2141+1G>A	2.37:g.217329391G>A						SMARCAL1_uc002vgd.4_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.3_Splice_Site_p.I692_splice	p.I714_splice	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	13	2471	+		Renal(323;0.0458)	714					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Splice_Site	SNP	ENST00000357276.4	37	c.2141_splice	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043552	0.75732	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6906	0.88268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCAL1	217037636	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.452000	0.80683	2.765000	0.95021	0.650000	0.86243	.		0.363	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		Intron
BPIFB6	128859	broad.mit.edu	37	20	31630672	31630672	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:31630672C>A	ENST00000349552.1	+	13	1240	c.1240C>A	c.(1240-1242)Cca>Aca	p.P414T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	414						extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCCTACATCCCAGTTGTCAA	0.473																																						uc010zuc.2																			0											c.(1240-1242)Cca>Aca		Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.							123.0	104.0	111.0					20																	31630672		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31630672C>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1240C>A	20.37:g.31630672C>A	ENSP00000344929:p.Pro414Thr					BPIFB6_uc010zud.2_Missense_Mutation_p.P353T	p.P414T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			12	1240	+			414						Missense_Mutation	SNP	ENST00000349552.1	37	c.1240C>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562594	0.45694	.	.	ENSG00000167104	ENST00000349552	T	0.25579	1.79	4.77	4.77	0.60923	.	0.000000	0.53938	D	0.000059	T	0.49150	0.1540	M	0.72894	2.215	0.32761	N	0.505146	D	0.89917	1.0	D	0.85130	0.997	T	0.62234	-0.6897	10	0.87932	D	0	-18.8469	13.1611	0.59544	0.0:1.0:0.0:0.0	.	414	Q8NFQ5	BPIB6_HUMAN	T	414	ENSP00000344929:P414T	ENSP00000344929:P414T	P	+	1	0	BPIFB6	31094333	0.672000	0.27530	0.511000	0.27724	0.461000	0.32589	3.212000	0.51145	2.479000	0.83701	0.561000	0.74099	CCA		0.473	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897	
CBFA2T2	9139	broad.mit.edu	37	20	32232172	32232172	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:32232172G>A	ENST00000346541.3	+	12	2072	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R503H|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.R60H|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R483H|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R522H|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.R483H|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R512H	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	512					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACTGTGGCCGCAAAGCCAGC	0.572																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1534-1536)cGc>cAc		Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.							71.0	67.0	68.0					20																	32232172		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32232172G>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1535G>A	20.37:g.32232172G>A	ENSP00000262653:p.Arg512His					CBFA2T2_uc010zug.1_Missense_Mutation_p.R286H|CBFA2T2_uc002wze.1_Missense_Mutation_p.R503H|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R483H|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.R60H	p.R512H	NM_005093	NP_001034798	O43439	MTG8R_HUMAN			11	2072	+			512					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1535G>A	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638831	0.96693	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.55234	0.53;0.54;0.53;0.55;1.13	5.79	5.79	0.91817	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.77197	-0.2676	10	0.87932	D	0	-3.8816	20.0222	0.97508	0.0:0.0:1.0:0.0	.	512;503	O43439;F8W6D7	MTG8R_HUMAN;.	H	286;512;503;512;483;522;60	ENSP00000364428:R512H;ENSP00000345810:R503H;ENSP00000262653:R512H;ENSP00000380902:R483H;ENSP00000352622:R522H	ENSP00000345810:R503H	R	+	2	0	CBFA2T2	31695833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.845000	0.99498	2.726000	0.93360	0.655000	0.94253	CGC		0.572	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999	
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0.0	0.0	5008	,	,		19301	0.0		0.001	False		,,,				2504	0.0031					uc002xwo.3																			1	Substitution - Missense(1)	p.A222T(2)|p.A222V(1)	ovary(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(664-666)Gcg>Acg		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							57.0	52.0	53.0					20																	51870661		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870661G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr					TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	p.A222T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1551	+			222					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.664G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
GRIK1	2897	broad.mit.edu	37	21	30949385	30949385	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr21:30949385C>G	ENST00000399907.1	-	14	2440	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	GRIK1_ENST00000389125.3_Missense_Mutation_p.E662Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E679Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.E662Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E679Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E677Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E677Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E677Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E662Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	677					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCATTCTCTCTACTGTCAAG	0.448																																						uc002yno.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2029-2031)Gag>Cag		Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						120.0	114.0	116.0					21																	30949385		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30949385C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2029G>C	21.37:g.30949385C>G	ENSP00000382791:p.Glu677Gln					GRIK1_uc002ynn.3_Missense_Mutation_p.E662Q|GRIK1_uc011acs.2_Missense_Mutation_p.E677Q|GRIK1_uc011act.2_Missense_Mutation_p.E538Q	p.E677Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN			13	2493	-			677					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2029G>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970850	0.92919	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.3	5.3	0.74995	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.72576	2.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.72384	-0.4310	10	0.49607	T	0.09	.	18.7417	0.91775	0.0:1.0:0.0:0.0	.	662;677;677;662	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Q	677;662;677;662;679;538;677;677;662;679	ENSP00000327687:E677Q;ENSP00000373777:E662Q;ENSP00000382797:E677Q;ENSP00000382798:E662Q;ENSP00000446326:E679Q;ENSP00000373776:E677Q;ENSP00000382791:E677Q;ENSP00000382793:E662Q;ENSP00000311646:E679Q	ENSP00000311646:E679Q	E	-	1	0	GRIK1	29871256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.595000	0.82710	2.765000	0.95021	0.650000	0.86243	GAG		0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
TSPEAR	54084	broad.mit.edu	37	21	45949800	45949800	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr21:45949800T>C	ENST00000323084.4	-	5	736	c.671A>G	c.(670-672)gAc>gGc	p.D224G	TSPEAR_ENST00000397916.1_Missense_Mutation_p.D156G	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	224	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGGGGTGGCGTCTGAGCCCGG	0.677																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(670-672)gAc>gGc		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.							32.0	37.0	35.0					21																	45949800		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949800T>C	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.671A>G	21.37:g.45949800T>C	ENSP00000321987:p.Asp224Gly					TSPEAR_uc010gpv.1_Missense_Mutation_p.D156G	p.D224G	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			4	737	-			224						Missense_Mutation	SNP	ENST00000323084.4	37	c.671A>G	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380456	0.82792	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.48522	0.81;0.81	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.72214	-0.4358	10	0.56958	D	0.05	-8.2288	14.8794	0.70519	0.0:0.0:0.0:1.0	.	224	Q8WU66	TSEAR_HUMAN	G	224;156;224	ENSP00000321987:D224G;ENSP00000381012:D156G	ENSP00000321987:D224G	D	-	2	0	TSPEAR	44774228	1.000000	0.71417	0.970000	0.41538	0.749000	0.42624	6.927000	0.75840	1.928000	0.55862	0.402000	0.26972	GAC		0.677	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
ALS2CL	259173	broad.mit.edu	37	3	46720751	46720751	+	Silent	SNP	G	G	A	rs371656248		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:46720751G>A	ENST00000318962.4	-	15	1658	c.1575C>T	c.(1573-1575)gaC>gaT	p.D525D	ALS2CL_ENST00000383742.3_5'Flank|ALS2CL_ENST00000415953.1_Silent_p.D525D	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	525					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACAGGGAGTCGTCTTCAGAGA	0.627																																						uc003cqa.2																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1573-1575)gaC>gaT		Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.							30.0	29.0	29.0					3																	46720751		2201	4299	6500	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46720751G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1575C>T	3.37:g.46720751G>A						ALS2CL_uc003cpx.2_5'Flank|ALS2CL_uc003cpy.2_5'Flank|ALS2CL_uc003cpz.2_Silent_p.D40D|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.D525D	p.D525D	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	14	1768	-			525					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.1575C>T	CCDS2743.1																																																																																				0.627	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129	
MORC1	27136	broad.mit.edu	37	3	108778663	108778663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:108778663C>A	ENST00000483760.1	-	12	1064	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	MORC1_ENST00000232603.5_Nonsense_Mutation_p.E341*					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTGTTTCTCTTTAAGATTC	0.368																																						uc003dxl.3																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1021-1023)Gag>Tag		Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.							159.0	137.0	144.0					3																	108778663		2203	4299	6502	SO:0001587	stop_gained	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108778663C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1021G>T	3.37:g.108778663C>A	ENSP00000417282:p.Glu341*					MORC1_uc011bhn.2_Nonsense_Mutation_p.E341*	p.E341*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			11	1108	-			341						Nonsense_Mutation	SNP	ENST00000483760.1	37	c.1021G>T		.	.	.	.	.	.	.	.	.	.	C	18.79	3.699642	0.68501	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	5.02	2.21	0.28008	.	0.476813	0.17698	N	0.165016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-4.0109	6.9533	0.24558	0.0:0.5518:0.3543:0.0939	.	.	.	.	X	341	.	ENSP00000232603:E341X	E	-	1	0	MORC1	110261353	0.998000	0.40836	0.520000	0.27837	0.206000	0.24218	0.913000	0.28611	0.277000	0.22141	0.650000	0.86243	GAG		0.368	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
GOLGB1	2804	broad.mit.edu	37	3	121410932	121410932	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:121410932C>T	ENST00000340645.5	-	14	7389	c.7264G>A	c.(7264-7266)Gag>Aag	p.E2422K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2427K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2422	Poly-Glu.				Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATATTCTCCTCTTCCTCCTGG	0.398																																						uc010hrc.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(7279-7281)Gag>Aag		Homo sapiens golgin B1 (GOLGB1), mRNA.							125.0	122.0	123.0					3																	121410932		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410932C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7264G>A	3.37:g.121410932C>T	ENSP00000341848:p.Glu2422Lys					GOLGB1_uc003eei.4_Missense_Mutation_p.E2422K|GOLGB1_uc003eej.4_Missense_Mutation_p.E2388K|GOLGB1_uc021xcy.1_Missense_Mutation_p.E2347K	p.E2427K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	7405	-			2422					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7279G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533994	0.27387	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15487	2.42;2.42	5.79	5.79	0.91817	.	0.000000	0.56097	D	0.000032	T	0.34077	0.0885	L	0.60455	1.87	0.44890	D	0.997905	D;D;B	0.65815	0.995;0.995;0.102	P;P;B	0.62089	0.898;0.898;0.077	T	0.00862	-1.1536	10	0.23302	T	0.38	.	15.5369	0.76011	0.0:1.0:0.0:0.0	.	2427;2427;2422	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	2422;2427	ENSP00000341848:E2422K;ENSP00000377275:E2427K	ENSP00000341848:E2422K	E	-	1	0	GOLGB1	122893622	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.493000	0.60341	2.735000	0.93741	0.563000	0.77884	GAG		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
CASR	846	broad.mit.edu	37	3	122004023	122004023	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:122004023C>T	ENST00000490131.1	+	7	3594	c.3222C>T	c.(3220-3222)aaC>aaT	p.N1074N	CASR_ENST00000296154.5_Silent_p.N1074N|CASR_ENST00000498619.1_Silent_p.N1084N	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1074					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTACAGAAAACGTAGTGAATT	0.522																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(3250-3252)aaC>aaT		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						72.0	71.0	71.0					3																	122004023		2189	4263	6452	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122004023C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3222C>T	3.37:g.122004023C>T						CASR_uc003eev.4_Silent_p.N1074N	p.N1084N	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	3690	+			1074					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.3252C>T	CCDS3010.1																																																																																				0.522	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
TLR1	7096	broad.mit.edu	37	4	38798595	38798595	+	Missense_Mutation	SNP	G	G	A	rs144775976	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:38798595G>A	ENST00000502213.2	-	3	2087	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.R620W			Q15399	TLR1_HUMAN	toll-like receptor 1	620					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GCCCTGCGCCGGGTCTGGGTC	0.517																																					GBM(5;216 373 40795 46382)	uc003gtl.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1858-1860)Cgg>Tgg		Homo sapiens toll-like receptor 1 (TLR1), mRNA.							83.0	90.0	88.0					4																	38798595		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798595G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1858C>T	4.37:g.38798595G>A	ENSP00000421259:p.Arg620Trp					TLR1_uc021xnn.1_Missense_Mutation_p.R620W	p.R620W	NM_003263	NP_003254	Q15399	TLR1_HUMAN			3	2132	-			620					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.1858C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989172	0.18966	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.02216	4.39;4.39	5.5	4.58	0.56647	.	0.130592	0.35096	N	0.003455	T	0.02929	0.0087	L	0.45422	1.42	0.39231	D	0.963682	B	0.18461	0.028	B	0.18871	0.023	T	0.49542	-0.8929	10	0.26408	T	0.33	.	13.174	0.59615	0.0:0.0:0.4571:0.5429	.	620	Q15399	TLR1_HUMAN	W	620	ENSP00000354932:R620W;ENSP00000421259:R620W	ENSP00000354932:R620W	R	-	1	2	TLR1	38474990	1.000000	0.71417	0.993000	0.49108	0.508000	0.34012	4.785000	0.62418	1.249000	0.43950	0.563000	0.77884	CGG		0.517	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
PDGFRA	5156	broad.mit.edu	37	4	55138611	55138611	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138611G>A	ENST00000257290.5	+	9	1619	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	430	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTCAACTGGGGGACAGACGGT	0.473			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1288-1290)Gga>Aga		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						157.0	142.0	147.0					4																	55138611		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138611G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1288G>A	4.37:g.55138611G>A	ENSP00000257290:p.Gly430Arg	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_Non-coding_Transcript	p.G430R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1619	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		430			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1288G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	4.318	0.058264	0.08339	.	.	ENSG00000134853	ENST00000257290	T	0.75938	-0.98	6.17	6.17	0.99709	.	0.000000	0.31760	U	0.007105	T	0.67401	0.2889	L	0.38175	1.15	0.80722	D	1	B;B	0.19583	0.011;0.037	B;B	0.19391	0.012;0.025	T	0.62440	-0.6854	10	0.54805	T	0.06	.	15.0188	0.71613	0.0694:0.0:0.9306:0.0	.	430;430	P16234-3;P16234	.;PGFRA_HUMAN	R	430	ENSP00000257290:G430R	ENSP00000257290:G430R	G	+	1	0	PDGFRA	54833368	1.000000	0.71417	0.774000	0.31636	0.010000	0.07245	6.327000	0.72910	2.941000	0.99782	0.655000	0.94253	GGA		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55138664	55138664	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138664G>C	ENST00000257290.5	+	9	1672	c.1341G>C	c.(1339-1341)tgG>tgC	p.W447C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	447	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATATTGAGTGGATGATATGCA	0.438			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1339-1341)tgG>tgC		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						146.0	136.0	139.0					4																	55138664		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138664G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1341G>C	4.37:g.55138664G>C	ENSP00000257290:p.Trp447Cys	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_Non-coding_Transcript	p.W447C	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1672	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		447			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1341G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430751	0.43122	.	.	ENSG00000134853	ENST00000257290	D	0.94966	-3.57	6.17	5.33	0.75918	Immunoglobulin-like fold (1);	0.000000	0.30538	U	0.009404	D	0.97065	0.9041	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.97652	1.0155	10	0.87932	D	0	.	15.6271	0.76870	0.0653:0.0:0.9346:0.0	.	447;447	P16234-3;P16234	.;PGFRA_HUMAN	C	447	ENSP00000257290:W447C	ENSP00000257290:W447C	W	+	3	0	PDGFRA	54833421	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	8.102000	0.89548	1.632000	0.50472	-0.140000	0.14226	TGG		0.438	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
FRAS1	80144	broad.mit.edu	37	4	79418093	79418093	+	Silent	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:79418093C>A	ENST00000264895.6	+	60	9533	c.9093C>A	c.(9091-9093)atC>atA	p.I3031I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3027	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGCCACCATCACCATATCCA	0.408																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9091-9093)atC>atA		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							105.0	102.0	103.0					4																	79418093		1922	4133	6055	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79418093C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9093C>A	4.37:g.79418093C>A						FRAS1_uc003hlc.1_Silent_p.I33I	p.I3031I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			59	9533	+			3026			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9093C>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018721	0.19355	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.47985	0.1475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51663	-0.8677	4	.	.	.	.	2.9286	0.05792	0.155:0.5497:0.1494:0.1459	.	.	.	.	N	1260	.	.	H	+	1	0	FRAS1	79637117	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.763000	0.26517	2.524000	0.85096	0.650000	0.86243	CAC		0.408	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
LARP7	51574	broad.mit.edu	37	4	113568448	113568448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:113568448G>A	ENST00000344442.5	+	7	1018	c.740G>A	c.(739-741)aGc>aAc	p.S247N	LARP7_ENST00000324052.6_Missense_Mutation_p.S247N|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR367_ENST00000362299.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.S254N|MIR302A_ENST00000385192.1_RNA|MIR302C_ENST00000362232.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	247	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		agcaacaCCAGCATCAGTAAA	0.403																																						uc003iaz.3																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17						c.(760-762)aGc>aAc		Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.							99.0	102.0	101.0					4																	113568448		1914	4121	6035	SO:0001583	missense	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113568448G>A	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.740G>A	4.37:g.113568448G>A	ENSP00000344950:p.Ser247Asn					LARP7_uc003iay.3_Missense_Mutation_p.S247N|LARP7_uc003iba.3_Missense_Mutation_p.S168N|LARP7_uc003ibb.3_Missense_Mutation_p.S247N	p.S254N	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	8	1226	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	247			Lys-rich.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	c.761G>A	CCDS3701.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.055|8.055	0.766943|0.766943	0.15983|0.15983	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000511529|ENST00000344442;ENST00000509061;ENST00000505034;ENST00000324052	.|T;T;T;T	.|0.19806	.|2.16;2.16;2.12;2.16	5.73|5.73	-2.84|-2.84	0.05751|0.05751	.|.	.|1.112010	.|0.06556	.|N	.|0.745934	T|T	0.15652|0.15652	0.0377|0.0377	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.17832	.|T	.|0.49	0.126|0.126	7.9114|7.9114	0.29793|0.29793	0.4235:0.3863:0.1902:0.0|0.4235:0.3863:0.1902:0.0	.|.	.|247;247	.|D6RFF0;Q4G0J3	.|.;LARP7_HUMAN	T|N	28|247;254;247;247	.|ENSP00000344950:S247N;ENSP00000422626:S254N;ENSP00000421541:S247N;ENSP00000314311:S247N	.|ENSP00000314311:S247N	A|S	+|+	1|2	0|0	LARP7|LARP7	113787897|113787897	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.333000|-0.333000	0.07894|0.07894	-0.365000|-0.365000	0.08076|0.08076	-0.373000|-0.373000	0.07131|0.07131	GCA|AGC		0.403	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648	
ARFIP1	27236	broad.mit.edu	37	4	153809448	153809448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:153809448G>A	ENST00000451320.2	+	8	1119	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ARFIP1_ENST00000356064.3_Missense_Mutation_p.E287K|ARFIP1_ENST00000405727.2_Missense_Mutation_p.E287K|ARFIP1_ENST00000429148.2_Missense_Mutation_p.E139K|ARFIP1_ENST00000353617.2_Missense_Mutation_p.E319K			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	319	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GAAATTTCTAGAAGAAAATAA	0.353																																						uc003imz.3																		ARFIP1/FHDC1(2)	0				cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(955-957)Gaa>Aaa		Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.							46.0	47.0	46.0					4																	153809448		2203	4299	6502	SO:0001583	missense	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153809448G>A	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.955G>A	4.37:g.153809448G>A	ENSP00000395083:p.Glu319Lys					ARFIP1_uc003inb.3_Missense_Mutation_p.E287K|ARFIP1_uc003ina.3_Missense_Mutation_p.E287K|ARFIP1_uc003inc.3_Missense_Mutation_p.E319K|ARFIP1_uc011cij.2_Missense_Mutation_p.E139K	p.E319K	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN			7	1231	+	all_hematologic(180;0.093)		319			AH.		Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	ENST00000451320.2	37	c.955G>A	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396736	0.96009	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.85	5.85	0.93711	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.978;0.99;1.0	P;P;D	0.85130	0.852;0.889;0.997	D	0.87803	0.2626	10	0.48119	T	0.1	-23.2014	20.1731	0.98165	0.0:0.0:1.0:0.0	.	139;287;319	B4DS69;Q2M2X4;P53367	.;.;ARFP1_HUMAN	K	319;139;319;287;287	ENSP00000395083:E319K;ENSP00000396653:E139K;ENSP00000296557:E319K;ENSP00000384189:E287K;ENSP00000348360:E287K	ENSP00000296557:E319K	E	+	1	0	ARFIP1	154028898	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.476000	0.97823	2.768000	0.95171	0.655000	0.94253	GAA		0.353	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447	
ASIC5	51802	broad.mit.edu	37	4	156764950	156764950	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:156764950G>A	ENST00000537611.2	-	5	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	248					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CAGCATCAACGAAACCAAGGG	0.413																																						uc003ipe.1																			0											c.(742-744)ttC>ttT		Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.							122.0	100.0	108.0					4																	156764950		2203	4300	6503	SO:0001819	synonymous_variant	51802					integral to membrane|plasma membrane		g.chr4:156764950G>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.744C>T	4.37:g.156764950G>A							p.F248F	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN			4	791	-			248						Silent	SNP	ENST00000537611.2	37	c.744C>T	CCDS3793.1																																																																																				0.413	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		
FSTL5	56884	broad.mit.edu	37	4	162459448	162459448	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:162459448A>G	ENST00000306100.5	-	10	1618	c.1182T>C	c.(1180-1182)aaT>aaC	p.N394N	FSTL5_ENST00000536695.1_Silent_p.N393N|FSTL5_ENST00000379164.4_Silent_p.N393N|FSTL5_ENST00000427802.2_Silent_p.N393N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	394	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTCACTGCCATTTGCTGAAA	0.408																																						uc003iqh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1180-1182)aaT>aaC		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.							184.0	160.0	168.0					4																	162459448		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162459448A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1182T>C	4.37:g.162459448A>G						FSTL5_uc003iqi.3_Silent_p.N393N|FSTL5_uc010iqv.3_Silent_p.N393N	p.N394N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	9	1618	-	all_hematologic(180;0.24)		394			Ig-like 2.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.1182T>C	CCDS3802.1																																																																																				0.408	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
IRX2	153572	broad.mit.edu	37	5	2749779	2749779	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:2749779G>A	ENST00000382611.6	-	2	620	c.372C>T	c.(370-372)gaC>gaT	p.D124D	C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000515640.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.D124D|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	124					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D124D(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGGCCGTGGCGTCCCGCGTGG	0.652																																						uc003jda.3																			1	Substitution - coding silent(1)	p.D124D(2)|p.R123Q(1)	endometrium(1)	breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(370-372)gaC>gaT		Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.							134.0	104.0	114.0					5																	2749779		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749779G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.372C>T	5.37:g.2749779G>A						C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.D124D	p.D124D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	1	614	-			124					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.372C>T	CCDS3868.1																																																																																				0.652	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2		
BDP1	55814	broad.mit.edu	37	5	70813215	70813215	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:70813215G>A	ENST00000358731.4	+	22	5190	c.4927G>A	c.(4927-4929)Gaa>Aaa	p.E1643K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1643					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAGAATGTATGAAAATCAAAG	0.303																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4927-4929)Gaa>Aaa		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							67.0	67.0	67.0					5																	70813215		1811	4077	5888	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70813215G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4927G>A	5.37:g.70813215G>A	ENSP00000351575:p.Glu1643Lys					BDP1_uc003kbo.3_Missense_Mutation_p.E1643K	p.E1643K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	21	5190	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1643					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.4927G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613492	0.46631	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.11169	2.8	4.24	4.24	0.50183	.	0.243176	0.29145	N	0.013011	T	0.26340	0.0643	M	0.64997	1.995	0.80722	D	1	D;P	0.71674	0.998;0.938	D;P	0.64321	0.924;0.831	T	0.00742	-1.1585	10	0.72032	D	0.01	.	12.3242	0.55001	0.0:0.0:1.0:0.0	.	1643;1643	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	K	1643;1223	ENSP00000351575:E1643K	ENSP00000351575:E1643K	E	+	1	0	BDP1	70848971	1.000000	0.71417	0.350000	0.25708	0.060000	0.15804	4.082000	0.57635	2.349000	0.79799	0.460000	0.39030	GAA		0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
JMY	133746	broad.mit.edu	37	5	78612055	78612055	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78612055T>C	ENST00000396137.4	+	10	3354	c.2892T>C	c.(2890-2892)ctT>ctC	p.L964L	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	964					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATGAAGCTCTTAGAAGAATTA	0.438																																						uc003kfx.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2890-2892)ctT>ctC		Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.							51.0	48.0	49.0					5																	78612055		1881	4103	5984	SO:0001819	synonymous_variant	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78612055T>C	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2892T>C	5.37:g.78612055T>C							p.L964L	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	3441	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	964					A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	c.2892T>C	CCDS4047.3																																																																																				0.438	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405	
HOMER1	9456	broad.mit.edu	37	5	78697771	78697771	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78697771T>C	ENST00000334082.6	-	6	2077	c.635A>G	c.(634-636)aAa>aGa	p.K212R	HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Missense_Mutation_p.K38R|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	212					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AAGTTGCTGTTTCCATTGTTT	0.478																																						uc003kfy.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(634-636)aAa>aGa		Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.							169.0	160.0	162.0					5																	78697771		1946	4145	6091	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78697771T>C	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.635A>G	5.37:g.78697771T>C	ENSP00000334382:p.Lys212Arg					HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Missense_Mutation_p.K38R	p.K212R	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	5	1738	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	212					B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.635A>G	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594148	0.66219	.	.	ENSG00000152413	ENST00000334082;ENST00000535690	T;T	0.79141	-1.24;-1.24	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	L	0.48642	1.525	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.76071	0.987;0.831	T	0.81994	-0.0677	10	0.30854	T	0.27	-16.6449	15.9986	0.80270	0.0:0.0:0.0:1.0	.	38;212	Q86YM6;Q86YM7	.;HOME1_HUMAN	R	212;38	ENSP00000334382:K212R;ENSP00000441587:K38R	ENSP00000334382:K212R	K	-	2	0	HOMER1	78733527	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.655000	0.83696	2.237000	0.73441	0.533000	0.62120	AAA		0.478	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	
ELL2	22936	broad.mit.edu	37	5	95234136	95234136	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:95234136G>T	ENST00000237853.4	-	8	1682	c.1333C>A	c.(1333-1335)Cta>Ata	p.L445I	ELL2_ENST00000431061.2_Missense_Mutation_p.L195I	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	445					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GGACACTTTAGTAGAACGGAA	0.373																																						uc003klr.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(1333-1335)Cta>Ata		Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.							128.0	133.0	132.0					5																	95234136		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95234136G>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1333C>A	5.37:g.95234136G>T	ENSP00000237853:p.Leu445Ile						p.L445I	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	7	1683	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	445					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.1333C>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	G	4.725	0.134905	0.09032	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T	0.24538	1.85	5.5	4.51	0.55191	.	0.598718	0.17747	N	0.163364	T	0.17619	0.0423	L	0.47716	1.5	0.09310	N	1	B	0.28128	0.201	B	0.21917	0.037	T	0.10917	-1.0609	10	0.33141	T	0.24	1.2565	2.6088	0.04885	0.1869:0.0:0.5195:0.2935	.	445	O00472	ELL2_HUMAN	I	445;195	ENSP00000237853:L445I	ENSP00000237853:L445I	L	-	1	2	ELL2	95259892	0.593000	0.26840	0.998000	0.56505	0.430000	0.31655	3.112000	0.50368	2.565000	0.86533	0.591000	0.81541	CTA		0.373	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	
APC	324	broad.mit.edu	37	5	112174282	112174282	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:112174282T>C	ENST00000457016.1	+	16	3371	c.2991T>C	c.(2989-2991)taT>taC	p.Y997Y	APC_ENST00000508376.2_Silent_p.Y997Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.Y997Y			P25054	APC_HUMAN	adenomatous polyposis coli	997	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTGCAGTTATGGTCAATACC	0.343		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc003kpz.4		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.Y997fs*8(1)|p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM010750	APC	M		c.(2989-2991)taT>taC		Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.							87.0	82.0	84.0					5																	112174282		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174282T>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2991T>C	5.37:g.112174282T>C		TSP Lung(16;0.13)				APC_uc011cvt.2_Silent_p.Y979Y|APC_uc003kpy.4_Silent_p.Y997Y|APC_uc010jbz.3_Silent_p.Y714Y|APC_uc010jca.3_Silent_p.Y297Y	p.Y997Y	NM_001127510	NP_001120982	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3184	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	997			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.2991T>C	CCDS4107.1																																																																																				0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
MAML1	9794	broad.mit.edu	37	5	179201677	179201677	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:179201677C>T	ENST00000292599.3	+	5	3113	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGATGGGCGGTCGGGCGG	0.706																																						uc003mkm.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2848-2850)ggC>ggT		Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.							15.0	17.0	17.0					5																	179201677		2198	4292	6490	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201677C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2850C>T	5.37:g.179201677C>T						MAML1_uc003mkn.1_Intron	p.G950G	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	3113	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	950						Silent	SNP	ENST00000292599.3	37	c.2850C>T	CCDS34315.1																																																																																				0.706	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
MYLK4	340156	broad.mit.edu	37	6	2685573	2685573	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:2685573C>A	ENST00000274643.7	-	6	844	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	MYLK4_ENST00000268446.5_Missense_Mutation_p.D168Y	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCGAAGGCATCGTACAGCTGG	0.557																																						uc003mty.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(502-504)Gat>Tat		Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.							270.0	199.0	223.0					6																	2685573		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2685573C>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.502G>T	6.37:g.2685573C>A	ENSP00000274643:p.Asp168Tyr						p.D168Y	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			5	799	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	168			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.502G>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597139	0.87055	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.47177	0.85;0.85	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000237	T	0.62208	0.2409	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.64546	-0.6382	10	0.87932	D	0	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	168	Q86YV6	MYLK4_HUMAN	Y	168	ENSP00000268446:D168Y;ENSP00000274643:D168Y	ENSP00000268446:D168Y	D	-	1	0	MYLK4	2630572	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	7.805000	0.86005	2.649000	0.89929	0.603000	0.83216	GAT		0.557	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418	
HIVEP1	3096	broad.mit.edu	37	6	12164550	12164550	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:12164550T>C	ENST00000379388.2	+	9	8345	c.8013T>C	c.(8011-8013)gtT>gtC	p.V2671V	HIVEP1_ENST00000541134.1_Silent_p.V536V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2671					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTCTGAAGTTTTTACAAAGC	0.577																																						uc003nac.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(8011-8013)gtT>gtC		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.							43.0	47.0	46.0					6																	12164550		2126	4253	6379	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164550T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.8013T>C	6.37:g.12164550T>C						HIVEP1_uc011diq.2_Non-coding_Transcript	p.V2671V	NM_002114	NP_002105	P15822	ZEP1_HUMAN			8	8192	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2671					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.8013T>C	CCDS43426.1																																																																																				0.577	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
RNF5	6048	broad.mit.edu	37	6	32147882	32147882	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:32147882G>A	ENST00000375094.3	+	5	582	c.424G>A	c.(424-426)Gag>Aag	p.E142K	AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.E142K	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	142					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(7)|urinary_tract(2)	10						CAATGCCCATGAGCCTTTCCG	0.557																																						uc003oaj.4																			0				endometrium(1)|lung(7)|urinary_tract(2)	10						c.(424-426)Gag>Aag		Homo sapiens ring finger protein 5 (RNF5), mRNA.							141.0	146.0	144.0					6																	32147882		1511	2709	4220	SO:0001583	missense	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32147882G>A	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.424G>A	6.37:g.32147882G>A	ENSP00000364235:p.Glu142Lys					AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	p.E142K	NM_006913	NP_008844	Q99942	RNF5_HUMAN			4	551	+			142					A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	c.424G>A	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893301	0.72524	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.94000	-3.33;-3.33	5.36	5.36	0.76844	.	0.253964	0.38272	N	0.001748	D	0.92938	0.7753	L	0.46157	1.445	0.38768	D	0.95447	P	0.47910	0.902	P	0.55455	0.776	D	0.92332	0.5874	10	0.40728	T	0.16	-6.1743	16.9524	0.86249	0.0:0.0:1.0:0.0	.	142	Q99942	RNF5_HUMAN	K	142	ENSP00000364235:E142K;ENSP00000407656:E142K	ENSP00000364235:E142K	E	+	1	0	RNF5	32255860	1.000000	0.71417	0.949000	0.38748	0.993000	0.82548	5.427000	0.66483	2.666000	0.90696	0.655000	0.94253	GAG		0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	NM_006913	
COL11A2	1302	broad.mit.edu	37	6	33133402	33133402	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:33133402C>A	ENST00000374708.4	-	61	4674	c.4416G>T	c.(4414-4416)agG>agT	p.R1472S	COL11A2_ENST00000395197.1_Missense_Mutation_p.R1498S|COL11A2_ENST00000341947.2_Missense_Mutation_p.R1558S|COL11A2_ENST00000374713.1_Missense_Mutation_p.R1511S|COL11A2_ENST00000357486.1_Missense_Mutation_p.R1537S|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000361917.1_Missense_Mutation_p.R1451S|COL11A2_ENST00000374714.1_Missense_Mutation_p.R1532S|COL11A2_ENST00000374712.1_Missense_Mutation_p.R1477S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1558	Collagen-like 8.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTTGGCCGCCTCATCTGCT	0.662																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0		p.M1557I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4672-4674)agG>agT		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							63.0	63.0	63.0					6																	33133402		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33133402C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4416G>T	6.37:g.33133402C>A	ENSP00000363840:p.Arg1472Ser					COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S	p.R1558S	NM_080680	NP_542411	P13942	COBA2_HUMAN			62	4902	-			1558			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4674G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416286	0.42918	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	4.4	3.54	0.40534	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.88105	2.93	0.53005	D	0.999966	P;D;D;D	0.56287	0.954;0.969;0.969;0.975	P;P;P;P	0.60012	0.867;0.723;0.723;0.819	D	0.84016	0.0351	10	0.87932	D	0	.	10.0846	0.42410	0.0:0.9016:0.0:0.0984	.	154;1451;1472;1558	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	S	1472;1558;1537;1532;1511;1498;1477;1451;128	ENSP00000363840:R1472S;ENSP00000339915:R1558S;ENSP00000350079:R1537S;ENSP00000363846:R1532S;ENSP00000363845:R1511S;ENSP00000378623:R1498S;ENSP00000363844:R1477S;ENSP00000355123:R1451S	ENSP00000339915:R1558S	R	-	3	2	COL11A2	33241380	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.899000	0.28417	1.082000	0.41137	-0.271000	0.10264	AGG		0.662	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
TFEB	7942	broad.mit.edu	37	6	41654875	41654875	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:41654875G>A	ENST00000230323.4	-	8	1061	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	TFEB_ENST00000373033.1_Missense_Mutation_p.R254C|TFEB_ENST00000403298.4_Missense_Mutation_p.R254C|TFEB_ENST00000420312.1_Missense_Mutation_p.R169C|TFEB_ENST00000394283.1_Missense_Mutation_p.R254C|TFEB_ENST00000358871.2_Missense_Mutation_p.R268C	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	254	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCCTTGATGCGGTCATTGATG	0.537			T	ALPHA	renal (childhood epithelioid)																																	uc021yzl.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11						c.(961-963)Cgc>Tgc		Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.							143.0	116.0	125.0					6																	41654875		2203	4300	6503	SO:0001583	missense	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41654875G>A	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.760C>T	6.37:g.41654875G>A	ENSP00000230323:p.Arg254Cys					TFEB_uc003oqs.1_Missense_Mutation_p.R254C|TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R254C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C	p.R321C	NM_007162	NP_009093	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		5	962	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		254					Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.961C>T	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504751	0.85176	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396	D;D;D;D;D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59	4.85	3.97	0.46021	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.99421	1.0933	10	0.87932	D	0	-18.6942	14.2398	0.65950	0.0:0.0:0.8499:0.1501	.	268;254;169	B0QYS6;P19484;P19484-2	.;TFEB_HUMAN;.	C	112;340;254;268;254;169;254;254;254	ENSP00000383998:R112C;ENSP00000343948:R340C;ENSP00000230323:R254C;ENSP00000351742:R268C;ENSP00000384203:R254C;ENSP00000412551:R169C;ENSP00000362124:R254C;ENSP00000377824:R254C;ENSP00000410391:R254C	ENSP00000230323:R254C	R	-	1	0	TFEB	41762853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.587000	0.67510	1.008000	0.39264	0.563000	0.77884	CGC		0.537	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3		
C7orf31	136895	broad.mit.edu	37	7	25182279	25182279	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:25182279G>A	ENST00000409280.1	-	8	1147	c.839C>T	c.(838-840)tCg>tTg	p.S280L	C7orf31_ENST00000283905.3_Missense_Mutation_p.S280L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	280										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGAGTGTACGAAGTGAGCCA	0.368																																						uc003sxn.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(838-840)tCg>tTg		Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.							70.0	73.0	72.0					7																	25182279		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25182279G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.839C>T	7.37:g.25182279G>A	ENSP00000386604:p.Ser280Leu						p.S280L	NM_138811	NP_620166	Q8N865	CG031_HUMAN			7	1400	-			280					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.839C>T	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024078	0.75390	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.09445	2.98;2.98	5.67	4.74	0.60224	.	0.288882	0.27906	N	0.017379	T	0.30103	0.0754	M	0.65975	2.015	0.30793	N	0.740735	D	0.89917	1.0	P	0.62560	0.904	T	0.05616	-1.0874	10	0.72032	D	0.01	17.6252	17.912	0.88937	0.0:0.1315:0.8685:0.0	.	280	Q8N865	CG031_HUMAN	L	280	ENSP00000386604:S280L;ENSP00000283905:S280L	ENSP00000283905:S280L	S	-	2	0	C7orf31	25148804	1.000000	0.71417	0.990000	0.47175	0.897000	0.52465	4.897000	0.63231	2.675000	0.91044	0.491000	0.48974	TCG		0.368	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811	
VPS41	27072	broad.mit.edu	37	7	38816326	38816326	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:38816326C>T	ENST00000310301.4	-	11	889	c.835G>A	c.(835-837)Gat>Aat	p.D279N	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.D254N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	279					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACAAGCTGATCACAGAGAGGT	0.413																																						uc003tgy.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(835-837)Gat>Aat		Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.							94.0	83.0	87.0					7																	38816326		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38816326C>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.835G>A	7.37:g.38816326C>T	ENSP00000309457:p.Asp279Asn					VPS41_uc003tgz.3_Missense_Mutation_p.D254N|VPS41_uc010kxn.3_Missense_Mutation_p.D190N	p.D279N	NM_014396	NP_055211	P49754	VPS41_HUMAN			10	861	-			279					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.835G>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292452	0.59976	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.39592	1.07;1.07	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	L	0.39020	1.185	0.80722	D	1	B;B;B	0.33549	0.417;0.417;0.417	B;B;B	0.28553	0.091;0.091;0.091	T	0.05852	-1.0860	10	0.30078	T	0.28	-30.7415	20.6208	0.99490	0.0:1.0:0.0:0.0	.	279;254;279	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	N	279;254	ENSP00000309457:D279N;ENSP00000379297:D254N	ENSP00000309457:D279N	D	-	1	0	VPS41	38782851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	GAT		0.413	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		
URGCP	55665	broad.mit.edu	37	7	43917540	43917540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:43917540C>T	ENST00000453200.1	-	6	2015	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.E499K|URGCP_ENST00000447717.3_Missense_Mutation_p.E465K|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.E465K|URGCP_ENST00000223341.7_Missense_Mutation_p.E465K|URGCP_ENST00000443736.1_Missense_Mutation_p.E465K			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	508					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACTCCTTCTCCACTTGGGCT	0.607																																						uc003tiw.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1522-1524)Gag>Aag		Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							74.0	77.0	76.0					7																	43917540		1983	4156	6139	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917540C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1522G>A	7.37:g.43917540C>T	ENSP00000396918:p.Glu508Lys					URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.E465K|URGCP_uc003tiv.3_Missense_Mutation_p.E433K|URGCP_uc003tix.3_Missense_Mutation_p.E499K|URGCP_uc003tiy.3_Missense_Mutation_p.E465K|URGCP_uc003tiz.3_Missense_Mutation_p.E465K|URGCP_uc011kbj.2_Missense_Mutation_p.E465K	p.E508K	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			5	1579	-			508					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1522G>A	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779171	0.90195	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10960	2.83;2.83;2.82;2.83;2.82;2.83	5.79	4.9	0.64082	.	0.285008	0.36854	N	0.002363	T	0.30603	0.0770	M	0.77486	2.375	0.40501	D	0.980649	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.02138	-1.1207	10	0.72032	D	0.01	-44.3626	11.8682	0.52505	0.0:0.9165:0.0:0.0835	.	499;508	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	K	465;465;499;465;508;465	ENSP00000223341:E465K;ENSP00000336872:E465K;ENSP00000384955:E499K;ENSP00000392136:E465K;ENSP00000396918:E508K;ENSP00000402803:E465K	ENSP00000223341:E465K	E	-	1	0	URGCP	43884065	0.999000	0.42202	0.957000	0.39632	0.994000	0.84299	4.288000	0.59007	2.735000	0.93741	0.655000	0.94253	GAG		0.607	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
POM121L12	285877	broad.mit.edu	37	7	53103790	53103790	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103790G>A	ENST00000408890.4	+	1	442	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGATCGCGCCCCCTGAGC	0.721																																						uc003tpz.3																			0		p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(424-426)gcG>gcA		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							21.0	25.0	23.0					7																	53103790		1945	4101	6046	SO:0001819	synonymous_variant	285877							g.chr7:53103790G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.426G>A	7.37:g.53103790G>A							p.A142A	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	442	+			142					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.426G>A	CCDS43584.1																																																																																				0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
POM121L12	285877	broad.mit.edu	37	7	53103915	53103915	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103915A>T	ENST00000408890.4	+	1	567	c.551A>T	c.(550-552)cAg>cTg	p.Q184L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	184										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTCAGCCAGTGCCCCAAG	0.711																																						uc003tpz.3																			0		p.Q184H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(550-552)cAg>cTg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							34.0	40.0	38.0					7																	53103915		1927	4123	6050	SO:0001583	missense	285877							g.chr7:53103915A>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.551A>T	7.37:g.53103915A>T	ENSP00000386133:p.Gln184Leu						p.Q184L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	567	+			184					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.551A>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981606	0.34942	.	.	ENSG00000221900	ENST00000408890	T	0.11712	2.75	2.07	-3.91	0.04168	.	.	.	.	.	T	0.07954	0.0199	L	0.29908	0.895	0.09310	N	1	P	0.36354	0.549	B	0.40534	0.332	T	0.28650	-1.0037	9	0.87932	D	0	.	4.1736	0.10341	0.3509:0.214:0.4351:0.0	.	184	Q8N7R1	P1L12_HUMAN	L	184	ENSP00000386133:Q184L	ENSP00000386133:Q184L	Q	+	2	0	POM121L12	53071409	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.419000	0.07071	-1.050000	0.03230	-1.508000	0.00951	CAG		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
DUS4L	11062	broad.mit.edu	37	7	107217955	107217955	+	Missense_Mutation	SNP	T	T	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:107217955T>G	ENST00000265720.3	+	8	1266	c.904T>G	c.(904-906)Tca>Gca	p.S302A	DUS4L_ENST00000402620.1_Missense_Mutation_p.S181A|BCAP29_ENST00000465919.1_5'Flank|RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000379117.2_5'Flank|BCAP29_ENST00000005259.4_5'Flank|BCAP29_ENST00000445771.2_5'Flank	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	302							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TAATGCTCTGTCAAGCACATC	0.353																																						uc003veh.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(904-906)Tca>Gca		Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.							126.0	132.0	130.0					7																	107217955		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107217955T>G	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.904T>G	7.37:g.107217955T>G	ENSP00000265720:p.Ser302Ala					DUS4L_uc011klw.2_Non-coding_Transcript|DUS4L_uc011klx.2_Missense_Mutation_p.S181A|DUS4L_uc022ajw.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.3_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank	p.S302A	NM_181581	NP_853559	O95620	DUS4L_HUMAN			7	1237	+			302					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.904T>G	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.788539	0.70337	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.22945	1.93;1.93	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.53561	1.675	0.58432	D	0.999999	B;B	0.26318	0.146;0.146	B;B	0.29077	0.098;0.098	T	0.04454	-1.0950	10	0.20519	T	0.43	.	16.215	0.82206	0.0:0.0:0.0:1.0	.	302;302	A4D0R5;O95620	.;DUS4L_HUMAN	A	302;181	ENSP00000265720:S302A;ENSP00000385274:S181A	ENSP00000265720:S302A	S	+	1	0	DUS4L	107005191	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.563000	0.82314	2.288000	0.76882	0.533000	0.62120	TCA		0.353	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581	
TES	26136	broad.mit.edu	37	7	115889257	115889257	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:115889257T>A	ENST00000358204.4	+	3	512	c.297T>A	c.(295-297)gcT>gcA	p.A99A	TES_ENST00000485009.1_3'UTR|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Intron|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Silent_p.A90A	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	99	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATCCAGTTGCTGCCAAGAAGA	0.383																																						uc003vho.3																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(295-297)gcT>gcA		Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.							127.0	119.0	122.0					7																	115889257		2203	4300	6503	SO:0001819	synonymous_variant	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115889257T>A	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.297T>A	7.37:g.115889257T>A						TES_uc011kmx.2_Silent_p.A99A|TES_uc011kmy.2_Intron|TES_uc010lka.2_Silent_p.A90A|TES_uc003vhp.3_Silent_p.A90A|TES_uc022aki.1_Non-coding_Transcript	p.A99A	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	512	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	99			PET.		A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	ENST00000358204.4	37	c.297T>A	CCDS5763.1																																																																																				0.383	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641	
GRM8	2918	broad.mit.edu	37	7	126542691	126542691	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:126542691C>T	ENST00000339582.2	-	6	1869	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	GRM8_ENST00000358373.3_Missense_Mutation_p.R354Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R354Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R354Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	354					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CACATTTCTTCGATTATTGGC	0.348										HNSCC(24;0.065)																												uc003vlr.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1060-1062)cGa>cAa		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						83.0	83.0	83.0					7																	126542691		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126542691C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1061G>A	7.37:g.126542691C>T	ENSP00000344173:p.Arg354Gln	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q	p.R354Q	NM_000845	NP_000836	O00222	GRM8_HUMAN			4	1372	-		Prostate(267;0.186)	354					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1061G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641563	0.87859	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	4.88	4.88	0.63580	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.90363	0.6984	M	0.67700	2.07	0.58432	D	0.999999	D;D;B	0.67145	0.993;0.996;0.269	D;P;B	0.65987	0.94;0.661;0.067	D	0.88602	0.3150	10	0.26408	T	0.33	.	17.0297	0.86457	0.0:1.0:0.0:0.0	.	354;354;354	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	Q	354	ENSP00000344173:R354Q;ENSP00000409790:R354Q;ENSP00000351142:R354Q;ENSP00000385731:R354Q	ENSP00000344173:R354Q	R	-	2	0	GRM8	126329927	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.772000	0.85439	2.251000	0.74343	0.511000	0.50034	CGA		0.348	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
AGAP3	116988	broad.mit.edu	37	7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:150840450C>T	ENST00000463381.1	+	15	1799	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	AGAP3_ENST00000397238.2_Missense_Mutation_p.R766W	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622																																						uc003wjg.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2296-2298)Cgg>Tgg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.							49.0	56.0	53.0					7																	150840450		2119	4246	6365	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840450C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1303C>T	7.37:g.150840450C>T	ENSP00000418016:p.Arg435Trp					AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	p.R766W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			16	2299	+			730					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2296C>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816242	0.70912	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.50548	0.74;0.74	5.28	3.4	0.38934	.	0.068783	0.64402	D	0.000013	T	0.77478	0.4136	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.99;0.975	T	0.82878	-0.0239	10	0.87932	D	0	.	9.7714	0.40591	0.1385:0.788:0.0:0.0735	.	730;265;766;435	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	W	435;265;766;730	ENSP00000418016:R435W;ENSP00000380413:R766W	ENSP00000334157:R730W	R	+	1	2	AGAP3	150471383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.716000	0.54904	1.458000	0.47871	0.655000	0.94253	CGG		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	
CLVS1	157807	broad.mit.edu	37	8	62212806	62212806	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr8:62212806T>C	ENST00000519846.1	+	3	892	c.420T>C	c.(418-420)atT>atC	p.I140I	RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Silent_p.I140I|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	140	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCAGGAAGATTCTTTTGCTGT	0.448																																						uc003xuh.3																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(418-420)atT>atC		Homo sapiens clavesin 1 (CLVS1), mRNA.							33.0	34.0	34.0					8																	62212806		2202	4300	6502	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212806T>C	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.420T>C	8.37:g.62212806T>C						CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.3_Intron	p.I140I	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			1	744	+			140			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.420T>C	CCDS6176.1																																																																																				0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519	
SBSPON	157869	broad.mit.edu	37	8	73982070	73982070	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr8:73982070C>T	ENST00000297354.6	-	4	851	c.647G>A	c.(646-648)cGt>cAt	p.R216H	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	216					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										TCCAGAACAACGAAGGCTCAC	0.478																																						uc003xzf.3																			0											c.(646-648)cGt>cAt		Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.							98.0	101.0	100.0					8																	73982070		2027	4193	6220	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73982070C>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.647G>A	8.37:g.73982070C>T	ENSP00000297354:p.Arg216His						p.R216H	NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN			3	852	-			216					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.647G>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	c	11.17	1.559735	0.27827	.	.	ENSG00000164764	ENST00000297354	T	0.24538	1.85	6.06	5.19	0.71726	.	0.169796	0.52532	N	0.000063	T	0.43456	0.1248	L	0.49778	1.585	0.41438	D	0.987906	D	0.89917	1.0	D	0.69824	0.966	T	0.20571	-1.0271	10	0.27082	T	0.32	-23.7373	15.2869	0.73835	0.0:0.9326:0.0:0.0674	.	216	Q8IVN8	RPESP_HUMAN	H	216	ENSP00000297354:R216H	ENSP00000297354:R216H	R	-	2	0	C8orf84	74144624	1.000000	0.71417	0.296000	0.24974	0.092000	0.18411	4.126000	0.57937	1.593000	0.50029	-0.119000	0.15052	CGT		0.478	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225	
LAMC3	10319	broad.mit.edu	37	9	133948659	133948659	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:133948659C>T	ENST00000361069.4	+	20	3578	c.3445C>T	c.(3445-3447)Ccg>Tcg	p.P1149S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1149	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCCCAGTCAGCCGACCAAATG	0.582																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3445-3447)Ccg>Tcg		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							51.0	53.0	52.0					9																	133948659		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133948659C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3445C>T	9.37:g.133948659C>T	ENSP00000354360:p.Pro1149Ser						p.P1149S	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	19	3543	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1149			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3445C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376329	0.24857	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27104	1.69	3.99	3.99	0.46301	.	0.241657	0.42821	N	0.000653	T	0.29716	0.0742	M	0.67953	2.075	0.36762	D	0.883347	B	0.23937	0.094	B	0.27608	0.081	T	0.32214	-0.9915	10	0.40728	T	0.16	.	13.8052	0.63225	0.0:1.0:0.0:0.0	.	1149	Q9Y6N6	LAMC3_HUMAN	S	1149	ENSP00000354360:P1149S	ENSP00000347156:P1149S	P	+	1	0	LAMC3	132938480	0.551000	0.26497	0.095000	0.20976	0.002000	0.02628	2.395000	0.44459	2.248000	0.74166	0.555000	0.69702	CCG		0.582	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
KCNT1	57582	broad.mit.edu	37	9	138657034	138657034	+	Missense_Mutation	SNP	G	G	A	rs397515407		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:138657034G>A	ENST00000263604.3	+	12	1136	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	KCNT1_ENST00000371757.2_Missense_Mutation_p.R398Q|KCNT1_ENST00000487664.1_Missense_Mutation_p.R353Q|KCNT1_ENST00000298480.5_Missense_Mutation_p.R398Q|KCNT1_ENST00000488444.2_Missense_Mutation_p.R379Q|KCNT1_ENST00000486577.2_Missense_Mutation_p.R359Q|KCNT1_ENST00000490355.2_Missense_Mutation_p.R379Q|KCNT1_ENST00000491806.2_Missense_Mutation_p.R365Q			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	379			R -> Q (in ENFL5). {ECO:0000269|PubMed:23086396}.		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCCACCCCCGGCTCCAGGTG	0.642																																						uc011mdq.2																			0		p.P397T(1)|p.R398R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1192-1194)cGg>cAg		Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.							137.0	133.0	135.0					9																	138657034		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657034G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1136G>A	9.37:g.138657034G>A	ENSP00000263604:p.Arg379Gln					KCNT1_uc011mdr.2_Missense_Mutation_p.R225Q|KCNT1_uc010nbf.3_Missense_Mutation_p.R353Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R147Q	p.R398Q	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	11	1267	+		Myeloproliferative disorder(178;0.0821)	398					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1193G>A		.	.	.	.	.	.	.	.	.	.	G	15.71	2.913214	0.52439	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.25085	1.84;1.83;1.82;1.82	4.21	4.21	0.49690	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000001	T	0.23688	0.0573	L	0.28192	0.835	0.49798	D	0.999824	P;P;P;P	0.42518	0.574;0.782;0.718;0.677	B;B;B;B	0.44315	0.126;0.261;0.446;0.18	T	0.03095	-1.1073	10	0.36615	T	0.2	-29.9645	15.713	0.77646	0.0:0.0:1.0:0.0	.	365;398;353;379	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	Q	353;398;398;359;365;379;379;379	ENSP00000417851:R353Q;ENSP00000298480:R398Q;ENSP00000360822:R398Q;ENSP00000263604:R379Q	ENSP00000263604:R379Q	R	+	2	0	KCNT1	137796855	0.996000	0.38824	1.000000	0.80357	0.910000	0.53928	7.627000	0.83176	2.181000	0.69327	0.462000	0.41574	CGG		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
ACE2	59272	broad.mit.edu	37	X	15582159	15582159	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:15582159C>T	ENST00000252519.3	-	17	2399	c.2297G>A	c.(2296-2298)aGa>aAa	p.R766K	ACE2_ENST00000427411.1_Missense_Mutation_p.R766K|ACE2_ENST00000471548.1_5'UTR			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	766					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CTTCCGATCTCTGATCCCAGT	0.413																																						uc004cxa.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(2296-2298)aGa>aAa		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	Moexipril(DB00691)						192.0	184.0	187.0					X																	15582159		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15582159C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2297G>A	X.37:g.15582159C>T	ENSP00000252519:p.Arg766Lys					ACE2_uc004cxb.2_Missense_Mutation_p.R766K	p.R766K	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			16	2465	-	Hepatocellular(33;0.183)		766					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.2297G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	7.157	0.584836	0.13749	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.85088	-1.94;-1.94	6.16	3.09	0.35607	.	0.235742	0.43260	N	0.000600	T	0.79799	0.4508	L	0.56396	1.775	0.20563	N	0.999881	B	0.18461	0.028	B	0.19148	0.024	T	0.65175	-0.6232	10	0.32370	T	0.25	-10.8075	7.8886	0.29665	0.0:0.6147:0.0:0.3853	.	766	Q9BYF1	ACE2_HUMAN	K	766	ENSP00000252519:R766K;ENSP00000389326:R766K	ENSP00000252519:R766K	R	-	2	0	ACE2	15492080	0.959000	0.32827	0.081000	0.20488	0.178000	0.23041	0.201000	0.17276	0.160000	0.19432	0.594000	0.82650	AGA		0.413	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
RS1	6247	broad.mit.edu	37	X	18690198	18690198	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs370979911		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:18690198G>A	ENST00000379984.3	-	0	31					NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1						adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TCTTCCCCTCGTCCTCGGCCA	0.443																																						uc004cyo.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15								Homo sapiens retinoschisin 1 (RS1), mRNA.		G		0,3835		0,0,1632,571	135.0	107.0	116.0			3.8	1.0	X		116	1,6727		0,1,2427,1872	no	utr-5	RS1	NM_000330.3		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095			18690198	1,10562	2203	4300	6503			6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18690198G>A	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.-10C>T	X.37:g.18690198G>A								NM_000330	NP_000321	O15537	XLRS1_HUMAN			0		-	Hepatocellular(33;0.183)							Q0QD39	Translation_Start_Site	SNP	ENST00000379984.3	37		CCDS14187.1																																																																																				0.443	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1		
KLHL34	257240	broad.mit.edu	37	X	21674007	21674007	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:21674007C>T	ENST00000379499.2	-	1	2441	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	634						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TCTCCAACCTCTCCCTCCCTC	0.637																																						uc004czz.1																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1900-1902)Gag>Aag		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							71.0	35.0	47.0					X																	21674007		2203	4300	6503	SO:0001583	missense	257240							g.chrX:21674007C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1900G>A	X.37:g.21674007C>T	ENSP00000368813:p.Glu634Lys					JA611288_uc022btu.1_5'Flank	p.E634K	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	2442	-			634						Missense_Mutation	SNP	ENST00000379499.2	37	c.1900G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	4.565	0.105013	0.08731	.	.	ENSG00000185915	ENST00000379499	T	0.73789	-0.78	5.88	3.86	0.44501	.	0.750094	0.11334	N	0.574716	T	0.50480	0.1618	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23940	-1.0174	10	0.27785	T	0.31	.	4.9895	0.14207	0.0:0.6683:0.2127:0.119	.	634	Q8N239	KLH34_HUMAN	K	634	ENSP00000368813:E634K	ENSP00000368813:E634K	E	-	1	0	KLHL34	21583928	0.002000	0.14202	0.022000	0.16811	0.038000	0.13279	1.400000	0.34577	2.471000	0.83476	0.600000	0.82982	GAG		0.637	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270	
BCOR	54880	broad.mit.edu	37	X	39932304	39932304	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:39932304G>A	ENST00000378444.4	-	4	2523	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_ENST00000378455.4_Silent_p.S765S|BCOR_ENST00000397354.3_Silent_p.S765S|BCOR_ENST00000342274.4_Silent_p.S765S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	765					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						CCAAAATCTCGGAAAACCGAT	0.512			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				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						c.(2293-2295)tcC>tcT		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							137.0	131.0	133.0					X																	39932304		2202	4300	6502	SO:0001819	synonymous_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:39932304G>A	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.2295C>T	X.37:g.39932304G>A						BCOR_uc004dep.4_Silent_p.S765S|BCOR_uc004deo.4_Silent_p.S765S|BCOR_uc004dem.4_Silent_p.S765S|BCOR_uc004deq.4_Silent_p.S765S	p.S765S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	2587	-			765					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.2295C>T	CCDS48093.1																																																																																				0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
BMP15	9210	broad.mit.edu	37	X	50653945	50653945	+	Silent	SNP	C	C	T	rs149633402		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:50653945C>T	ENST00000252677.3	+	1	162	c.162C>T	c.(160-162)ggC>ggT	p.G54G		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	54					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCCCCTGGCGAACAGCCAA	0.592													c|||	1	0.000264901	0.0	0.0	3775	,	,		13013	0.0		0.001	False		,,,				2504	0.0					uc011mnw.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(160-162)ggC>ggT		Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.		C		1,3829		0,0,1,1632,565	30.0	27.0	28.0		162	-2.0	0.0	X	dbSNP_134	28	2,6722		0,2,0,2426,1868	no	coding-synonymous	BMP15	NM_005448.2		0,2,1,4058,2433	TT,TC,T,CC,C		0.0297,0.0261,0.0284		54/393	50653945	3,10551	2198	4296	6494	SO:0001819	synonymous_variant	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50653945C>T	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.162C>T	X.37:g.50653945C>T							p.G54G	NM_005448	NP_005439	O95972	BMP15_HUMAN			0	211	+	Ovarian(276;0.236)		54					Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	ENST00000252677.3	37	c.162C>T	CCDS14334.1																																																																																				0.592	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448	
KDM5C	8242	broad.mit.edu	37	X	53230914	53230914	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:53230914G>A	ENST00000375401.3	-	14	2411	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	KDM5C_ENST00000404049.3_Missense_Mutation_p.R626C|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000452825.3_Missense_Mutation_p.R560C|KDM5C_ENST00000375383.3_Missense_Mutation_p.R586C|KDM5C_ENST00000375379.3_Missense_Mutation_p.R627C	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	627	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGCACTGGCGCCCAGCAGGC	0.587			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(1879-1881)Cgc>Tgc		Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.							46.0	41.0	43.0					X																	53230914		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53230914G>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1879C>T	X.37:g.53230914G>A	ENSP00000364550:p.Arg627Cys					KDM5C_uc022bxe.1_Missense_Mutation_p.R560C|KDM5C_uc004dsa.3_Missense_Mutation_p.R626C	p.R627C	NM_004187	NP_004178	P41229	KDM5C_HUMAN			13	2412	-			627			JmjC.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1879C>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568898	0.86439	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.82	5.82	0.92795	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	H	0.94462	3.54	0.80722	D	1	D;D;D	0.65815	0.995;0.991;0.995	P;P;P	0.56700	0.804;0.641;0.77	D	0.88545	0.3112	10	0.87932	D	0	-8.7683	11.3766	0.49733	0.0:0.0:0.8195:0.1805	.	560;626;627	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	C	560;627;626;627;586	ENSP00000445176:R560C;ENSP00000364550:R627C;ENSP00000385394:R626C;ENSP00000364528:R627C;ENSP00000364532:R586C	ENSP00000364528:R627C	R	-	1	0	KDM5C	53247639	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.648000	0.67930	2.444000	0.82710	0.600000	0.82982	CGC		0.587	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
AMER1	139285	broad.mit.edu	37	X	63412206	63412206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:63412206delT	ENST00000330258.3	-	2	1233	c.961delA	c.(961-963)agcfs	p.S321fs	AMER1_ENST00000403336.1_Frame_Shift_Del_p.S321fs|AMER1_ENST00000374869.3_Frame_Shift_Del_p.S321fs	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	321					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GAATCAAAGCTTTTCAGGGAT	0.522																																						uc022byb.1																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						c.(961-963)agcfs		Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.							138.0	119.0	125.0					X																	63412206		2203	4300	6503	SO:0001589	frameshift_variant	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412206delT	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.961delA	X.37:g.63412206delT	ENSP00000329117:p.Ser321fs					FAM123B_uc004dvo.3_Frame_Shift_Del_p.S321fs	p.S321fs	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			0	961	-			321					A2IB86|Q8N885	Frame_Shift_Del	DEL	ENST00000330258.3	37	c.961delA	CCDS14377.2																																																																																				0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
YIPF6	286451	broad.mit.edu	37	X	67731798	67731798	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:67731798T>A	ENST00000462683.1	+	2	909	c.165T>A	c.(163-165)aaT>aaA	p.N55K	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	55					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCACATTAAATGAATCTGTTC	0.393																																						uc004dwz.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(163-165)aaT>aaA		Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.							142.0	123.0	129.0					X																	67731798		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67731798T>A	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.165T>A	X.37:g.67731798T>A	ENSP00000417573:p.Asn55Lys					YIPF6_uc011mph.2_Intron	p.N55K	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN			1	450	+			55					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.165T>A	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064932	0.55432	.	.	ENSG00000181704	ENST00000462683	T	0.44482	0.92	5.66	1.99	0.26369	.	0.143111	0.64402	D	0.000009	T	0.30417	0.0764	L	0.36672	1.1	0.80722	D	1	B	0.15930	0.015	B	0.17433	0.018	T	0.09952	-1.0651	10	0.87932	D	0	2.3794	7.4814	0.27406	0.0:0.2631:0.0:0.7369	.	55	Q96EC8	YIPF6_HUMAN	K	55	ENSP00000417573:N55K	ENSP00000417573:N55K	N	+	3	2	YIPF6	67648523	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	1.116000	0.31221	0.279000	0.22186	-0.469000	0.05056	AAT		0.393	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834	
PCDH11X	27328	broad.mit.edu	37	X	91133162	91133162	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:91133162C>A	ENST00000373094.1	+	2	2768	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	PCDH11X_ENST00000361655.2_Missense_Mutation_p.F641L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F641L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F641L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F641L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F641L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F641L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F641L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.F641L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTACACTTTCTATGTAAAGG	0.363																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1921-1923)ttC>ttA		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							41.0	37.0	38.0					X																	91133162		2200	4278	6478	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133162C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1923C>A	X.37:g.91133162C>A	ENSP00000362186:p.Phe641Leu					PCDH11X_uc004efl.2_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.2_Missense_Mutation_p.F641L|PCDH11X_uc004efm.2_Missense_Mutation_p.F641L|PCDH11X_uc004efn.2_Missense_Mutation_p.F641L|PCDH11X_uc004efo.2_Missense_Mutation_p.F641L|PCDH11X_uc004efh.2_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L	p.F641L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2768	+			641			Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1923C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612878	0.28712	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.35	2.64	0.31445	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	N	0.04508	-0.205	0.41598	D	0.988839	D;B;D;D;D;D;D;D	0.76494	0.999;0.033;0.999;0.999;0.999;0.999;0.999;0.999	D;B;D;D;D;D;D;D	0.91635	0.998;0.108;0.995;0.998;0.998;0.999;0.995;0.995	T	0.12400	-1.0549	10	0.44086	T	0.13	.	8.4985	0.33144	0.0:0.5922:0.0:0.4078	.	641;641;641;641;641;641;641;641	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	641	ENSP00000378746:F641L;ENSP00000362186:F641L;ENSP00000362189:F641L;ENSP00000355040:F641L;ENSP00000362180:F641L;ENSP00000423762:F641L;ENSP00000355105:F641L;ENSP00000384758:F641L;ENSP00000298274:F641L	ENSP00000298274:F641L	F	+	3	2	PCDH11X	91019818	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.715000	0.25822	0.123000	0.18342	0.415000	0.27848	TTC		0.363	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
OCRL	4952	broad.mit.edu	37	X	128721074	128721074	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:128721074A>G	ENST00000371113.4	+	20	2400	c.2235A>G	c.(2233-2235)ctA>ctG	p.L745L	OCRL_ENST00000357121.5_Silent_p.L737L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	745	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TAGATCACCTATTCAAATACG	0.458																																						uc004euq.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2233-2235)ctA>ctG		Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.							145.0	132.0	137.0					X																	128721074		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128721074A>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2235A>G	X.37:g.128721074A>G						OCRL_uc004eur.3_Silent_p.L737L|OCRL_uc010nrb.3_5'Flank	p.L745L	NM_000276	NP_000267	Q01968	OCRL_HUMAN			19	2400	+			745			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.2235A>G	CCDS35393.1																																																																																				0.458	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
HTATSF1	27336	broad.mit.edu	37	X	135593609	135593609	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:135593609G>T	ENST00000218364.4	+	9	1879	c.1705G>T	c.(1705-1707)Ggt>Tgt	p.G569C	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G569C	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	569	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGAAGAAAATGGTCTCGAGAA	0.393																																						uc004ezw.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1705-1707)Ggt>Tgt		Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.							49.0	53.0	52.0					X																	135593609		2203	4297	6500	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593609G>T	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1705G>T	X.37:g.135593609G>T	ENSP00000218364:p.Gly569Cys					HTATSF1_uc004ezx.3_Missense_Mutation_p.G569C	p.G569C	NM_001163280	NP_055315	O43719	HTSF1_HUMAN			9	2127	+	Acute lymphoblastic leukemia(192;0.000127)		569			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1705G>T	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163717	0.38217	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04454	3.62;3.62	4.51	1.73	0.24493	.	0.268702	0.27096	N	0.020947	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.25048	0.117	B	0.17722	0.019	T	0.40553	-0.9557	10	0.87932	D	0	-6.2425	4.7513	0.13063	0.1998:0.0:0.6258:0.1744	.	569	O43719	HTSF1_HUMAN	C	569	ENSP00000442699:G569C;ENSP00000218364:G569C	ENSP00000218364:G569C	G	+	1	0	HTATSF1	135421275	0.036000	0.19791	0.006000	0.13384	0.941000	0.58515	1.020000	0.30027	0.231000	0.21079	0.429000	0.28392	GGT		0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500	
SOX3	6658	broad.mit.edu	37	X	139586804	139586804	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:139586804C>T	ENST00000370536.2	-	1	421	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	141					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GTTCATGGGCCGTTTCACACG	0.652																																						uc004fbd.1																			0		p.R141R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(421-423)cGg>cAg		Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.							36.0	36.0	36.0					X																	139586804		2203	4300	6503	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586804C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.422G>A	X.37:g.139586804C>T	ENSP00000359567:p.Arg141Gln						p.R141Q	NM_005634	NP_005625	P41225	SOX3_HUMAN			0	422	-	Acute lymphoblastic leukemia(192;7.65e-05)		141					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.422G>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	18.00	3.526301	0.64860	.	.	ENSG00000134595	ENST00000370536	D	0.99298	-5.71	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.99548	0.9838	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97971	1.0343	9	.	.	.	.	14.7169	0.69275	0.0:1.0:0.0:0.0	.	141	P41225	SOX3_HUMAN	Q	141	ENSP00000359567:R141Q	.	R	-	2	0	SOX3	139414470	1.000000	0.71417	0.611000	0.29010	0.159000	0.22180	7.231000	0.78106	1.638000	0.50547	0.525000	0.51046	CGG		0.652	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1		
MTM1	4534	broad.mit.edu	37	X	149839946	149839946	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:149839946C>T	ENST00000370396.2	+	15	1744	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R449C|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.R527C	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	564					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAGCCTTACGCGACGAATA	0.517																																						uc004fef.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1690-1692)Cgc>Tgc		Homo sapiens myotubularin 1 (MTM1), mRNA.							119.0	93.0	102.0					X																	149839946		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149839946C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1690C>T	X.37:g.149839946C>T	ENSP00000359423:p.Arg564Cys					MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R527C|MTM1_uc011mxz.2_Missense_Mutation_p.R449C|MTM1_uc010nte.3_Missense_Mutation_p.R432C	p.R564C	NM_000252	NP_000243	Q13496	MTM1_HUMAN			14	1766	+	Acute lymphoblastic leukemia(192;6.56e-05)		564					A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1690C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109722	0.20714	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.96459	-4.02;-3.78;-3.98	4.85	4.85	0.62838	.	0.058102	0.64402	D	0.000004	D	0.94791	0.8318	M	0.79343	2.45	0.58432	D	0.999998	P;P	0.39216	0.481;0.664	B;B	0.33196	0.12;0.159	D	0.94853	0.8015	10	0.62326	D	0.03	.	12.5163	0.56034	0.1668:0.8332:0.0:0.0	.	527;564	B7Z491;Q13496	.;MTM1_HUMAN	C	564;449;527	ENSP00000359423:R564C;ENSP00000439784:R449C;ENSP00000389157:R527C	ENSP00000359423:R564C	R	+	1	0	MTM1	149590604	1.000000	0.71417	0.059000	0.19551	0.036000	0.12997	2.087000	0.41653	2.123000	0.65237	0.600000	0.82982	CGC		0.517	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252	
GABRE	2564	broad.mit.edu	37	X	151128446	151128446	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:151128446A>G	ENST00000370328.3	-	6	702	c.649T>C	c.(649-651)Tcc>Ccc	p.S217P	GABRE_ENST00000370325.1_Missense_Mutation_p.S217P|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Missense_Mutation_p.S24P|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	217					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGGATAGGAAACTGGAAAG	0.438																																						uc004ffi.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(649-651)Tcc>Ccc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.							82.0	80.0	81.0					X																	151128446		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151128446A>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.649T>C	X.37:g.151128446A>G	ENSP00000359353:p.Ser217Pro					GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	p.S217P	NM_004961	NP_004952	P78334	GBRE_HUMAN			5	703	-	Acute lymphoblastic leukemia(192;6.56e-05)		217					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.649T>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	A	9.739	1.164378	0.21538	.	.	ENSG00000102287	ENST00000370328;ENST00000370325;ENST00000393914	T;T	0.79845	-1.31;-1.31	5.78	4.59	0.56863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.236404	0.28809	N	0.014079	D	0.87321	0.6148	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.87981	0.2743	10	0.87932	D	0	.	8.938	0.35711	0.6582:0.3418:0.0:0.0	.	217	P78334	GBRE_HUMAN	P	217;217;24	ENSP00000359353:S217P;ENSP00000359350:S217P	ENSP00000359350:S217P	S	-	1	0	GABRE	150879102	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.812000	0.62613	2.044000	0.60594	0.486000	0.48141	TCC		0.438	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
PLXNB3	5365	broad.mit.edu	37	X	153033712	153033712	+	Silent	SNP	C	C	T	rs367873902		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:153033712C>T	ENST00000361971.5	+	4	1209	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Silent_p.P18P|PLXNB3_ENST00000538966.1_Silent_p.P388P|PLXNB3_ENST00000538282.1_Silent_p.P18P	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	365	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGATTCCCCCGAGTCGTACC	0.687													C|||	1	0.000264901	0.0	0.0	3775	,	,		11692	0.0		0.0	False		,,,				2504	0.001					uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1162-1164)ccC>ccT		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.		C	,	0,3833		0,0,1631,571	39.0	44.0	42.0		1164,1095	-9.6	0.0	X		42	1,6721		0,1,2426,1868	no	coding-synonymous,coding-synonymous	PLXNB3	NM_001163257.1,NM_005393.2	,	0,1,4057,2439	TT,TC,CC,C		0.0149,0.0,0.0095	,	388/1933,365/1910	153033712	1,10554	2202	4295	6497	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033712C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1095C>T	X.37:g.153033712C>T						PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.P47P|PLXNB3_uc004fii.2_Silent_p.P365P|PLXNB3_uc011mzd.1_Silent_p.P4P	p.P388P	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			4	1435	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		365			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1164C>T	CCDS14729.1																																																																																				0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
MPP1	4354	broad.mit.edu	37	X	154009984	154009984	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:154009984T>A	ENST00000369534.3	-	10	1187	c.1040A>T	c.(1039-1041)gAg>gTg	p.E347V	MPP1_ENST00000393531.1_Missense_Mutation_p.E327V|MPP1_ENST00000413259.3_Missense_Mutation_p.E317V|MPP1_ENST00000462825.1_5'Flank	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	347	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCCAAGAACTCATTGGCAGA	0.468																																						uc004fmp.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(1039-1041)gAg>gTg		Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.							341.0	247.0	279.0					X																	154009984		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154009984T>A		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1040A>T	X.37:g.154009984T>A	ENSP00000358547:p.Glu347Val					MPP1_uc011mzv.2_Missense_Mutation_p.E317V|MPP1_uc010nvg.2_Missense_Mutation_p.E327V|MPP1_uc011mzw.2_Missense_Mutation_p.E330V	p.E347V	NM_002436	NP_002427	Q00013	EM55_HUMAN			9	1194	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		347			Guanylate kinase-like.|Interaction with MPP5.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.1040A>T	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055072	0.55325	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531	T;T;T	0.48201	0.82;0.82;0.82	5.39	5.39	0.77823	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.047137	0.85682	D	0.000000	T	0.66973	0.2844	H	0.94847	3.59	0.58432	D	0.999999	P;P;P;P	0.43788	0.817;0.632;0.578;0.632	P;P;P;P	0.46718	0.525;0.497;0.485;0.497	T	0.76793	-0.2828	10	0.87932	D	0	.	13.2369	0.59974	0.0:0.0:0.0:1.0	.	330;317;327;347	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	V	347;317;327	ENSP00000358547:E347V;ENSP00000400155:E317V;ENSP00000377165:E327V	ENSP00000358547:E347V	E	-	2	0	MPP1	153663178	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.120000	0.57897	1.803000	0.52742	0.481000	0.45027	GAG		0.468	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436	
