#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
ABCA4	24	broad.mit.edu	37	1	94512564	94512564	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:94512564C>T	ENST00000370225.3	-	19	2915	c.2829G>A	c.(2827-2829)cgG>cgA	p.R943R	ABCA4_ENST00000535735.1_Silent_p.R869R	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	943	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581). {ECO:0000269|PubMed:10746567, ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:11527935, ECO:0000269|PubMed:11594993, ECO:0000269|PubMed:9054934, ECO:0000269|Ref.5}.|R -> W (in STGD1 and FFM; dbSNP:rs61749446). {ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11527935}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGCTGGCCGGCCACAGG	0.522																																						uc001dqh.2																			0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(2827-2829)CGG>CGA		ATP-binding cassette, sub-family A member 4							148.0	158.0	154.0					1																	94512564		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512564C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2829G>A	1.37:g.94512564C>T						ABCA4_uc010otn.1_Silent_p.R869R	p.R943R	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2933	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	943		R -> W (in STGD1 and FFM).	Cytoplasmic.|ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2829G>A	CCDS747.1																																																																																				0.522	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
PSMD4	5710	broad.mit.edu	37	1	151237667	151237667	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:151237667A>G	ENST00000368884.3	+	5	475	c.395A>G	c.(394-396)aAg>aGg	p.K132R	PSMD4_ENST00000368881.4_Missense_Mutation_p.K132R	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	132	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAACGCCTCAAGAAGGAGAAA	0.453																																						uc001exl.2																			0					0						c.(394-396)AAG>AGG		proteasome 26S non-ATPase subunit 4							74.0	69.0	71.0					1																	151237667		2203	4300	6503	SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151237667A>G	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.395A>G	1.37:g.151237667A>G	ENSP00000357879:p.Lys132Arg					PSMD4_uc001exn.2_Missense_Mutation_p.K132R	p.K132R	NM_002810	NP_002801	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	457	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		132			VWFA.		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.395A>G	CCDS991.1	.	.	.	.	.	.	.	.	.	.	A	32	5.172458	0.94807	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.15256	2.44;2.44;2.44	5.44	5.44	0.79542	Ssl1-like (1);von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.76938	2.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	T	0.08493	-1.0719	10	0.49607	T	0.09	-31.6528	15.3268	0.74172	1.0:0.0:0.0:0.0	.	132;132	Q5VWC4;P55036	.;PSMD4_HUMAN	R	132;132;117	ENSP00000357879:K132R;ENSP00000357876:K132R;ENSP00000414499:K117R	ENSP00000357876:K132R	K	+	2	0	PSMD4	149504291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.501000	0.90501	2.288000	0.76882	0.533000	0.62120	AAG		0.453	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810	
XCL1	6375	broad.mit.edu	37	1	168549318	168549318	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:168549318T>G	ENST00000367818.3	+	2	244	c.79T>G	c.(79-81)Tca>Gca	p.S27A		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	27					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGTGAAGTCTCAGATAAGAG	0.433																																						uc001gfo.1																			0					0						c.(79-81)TCA>GCA		chemokine (C motif) ligand 1							126.0	129.0	128.0					1																	168549318		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168549318T>G	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.79T>G	1.37:g.168549318T>G	ENSP00000356792:p.Ser27Ala						p.S27A	NM_002995	NP_002986	P47992	XCL1_HUMAN			2	99	+	all_hematologic(923;0.208)		27					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.79T>G	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	T	5.551	0.286558	0.10513	.	.	ENSG00000143184	ENST00000367818	T	0.03745	3.82	4.36	1.21	0.21127	Chemokine interleukin-8-like domain (1);	0.680985	0.13301	N	0.398240	T	0.00724	0.0024	L	0.34521	1.04	0.20403	N	0.999909	B	0.18863	0.031	B	0.18561	0.022	T	0.45963	-0.9225	9	0.08381	T	0.77	-0.6089	3.0314	0.06108	0.2129:0.5517:0.0:0.2353	.	27	P47992	XCL1_HUMAN	A	27	ENSP00000356792:S27A	ENSP00000356792:S27A	S	+	1	0	XCL1	166815942	0.005000	0.15991	0.443000	0.26883	0.569000	0.35902	0.271000	0.18626	0.576000	0.29452	-0.242000	0.12053	TCA		0.433	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995	
PRG4	10216	broad.mit.edu	37	1	186276567	186276567	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:186276567C>T	ENST00000445192.2	+	7	1761	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T479T|PRG4_ENST00000367483.4_Silent_p.T531T|PRG4_ENST00000367486.3_Silent_p.T529T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGAAGC	0.642																																						uc001gru.3																			0				skin(1)	1						c.(1714-1716)ACC>ACT		proteoglycan 4 isoform A							98.0	99.0	99.0					1																	186276567		2203	4297	6500	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276567C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1716C>T	1.37:g.186276567C>T						PRG4_uc001grt.3_Silent_p.T531T|PRG4_uc009wyl.2_Silent_p.T479T|PRG4_uc009wym.2_Silent_p.T438T|PRG4_uc010poo.1_Intron	p.T572T	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1767	+			572			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|29.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1716C>T	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
HHIPL2	79802	broad.mit.edu	37	1	222717273	222717273	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:222717273G>C	ENST00000343410.6	-	2	638	c.580C>G	c.(580-582)Ctg>Gtg	p.L194V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	194					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACCATGCCCAGGTGGCGGTTG	0.607																																						uc001hnh.1																			0				ovary(1)	1						c.(580-582)CTG>GTG		HHIP-like 2 precursor							55.0	60.0	58.0					1																	222717273		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717273G>C	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.580C>G	1.37:g.222717273G>C	ENSP00000342118:p.Leu194Val						p.L194V	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	638	-			194					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.580C>G	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036883	0.35893	.	.	ENSG00000143512	ENST00000343410	T	0.77098	-1.07	5.47	3.6	0.41247	Folate receptor-like (1);	0.000000	0.64402	D	0.000001	D	0.87708	0.6245	M	0.89095	3.005	0.45318	D	0.998312	D	0.89917	1.0	D	0.75484	0.986	D	0.87360	0.2343	10	0.45353	T	0.12	-15.0131	9.6112	0.39663	0.2239:0.0:0.7761:0.0	.	194	Q6UWX4	HIPL2_HUMAN	V	194	ENSP00000342118:L194V	ENSP00000342118:L194V	L	-	1	2	HHIPL2	220783896	1.000000	0.71417	0.969000	0.41365	0.094000	0.18550	4.433000	0.59929	1.299000	0.44798	-0.229000	0.12294	CTG		0.607	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
PTEN	5728	broad.mit.edu	37	10	89653826	89653826	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:89653826C>G	ENST00000371953.3	+	2	1481	c.124C>G	c.(124-126)Ctt>Gtt	p.L42V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	42	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		L -> R (in glioma; retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGAAAGACTTGAAGGCGT	0.294		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		47	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)	p.L42R(6)|p.?(4)|p.Y27_N212>Y(2)|p.Y27fs*1(2)|p.L42P(1)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(124-126)CTT>GTT		phosphatase and tensin homolog							112.0	113.0	113.0					10																	89653826		2203	4295	6498	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653826C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.124C>G	10.37:g.89653826C>G	ENSP00000361021:p.Leu42Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L42V	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1155	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	42		L -> R (in glioma; retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.124C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452838	0.84209	.	.	ENSG00000171862	ENST00000371953	D	0.98617	-5.03	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	L	0.39245	1.2	0.80722	D	1	P	0.38020	0.615	B	0.29267	0.1	D	0.96059	0.9037	9	.	.	.	-8.6179	17.4682	0.87639	0.0:1.0:0.0:0.0	.	42	P60484	PTEN_HUMAN	V	42	ENSP00000361021:L42V	.	L	+	1	0	PTEN	89643806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.453000	0.66645	2.421000	0.82119	0.655000	0.94253	CTT		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SLC18A2	6571	broad.mit.edu	37	10	119014867	119014867	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:119014867C>T	ENST00000298472.5	+	7	923	c.780C>T	c.(778-780)ctC>ctT	p.L260L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	260					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCCTGGTACTCTTGGATGGAG	0.627																																						uc001ldd.1																			0					0						c.(778-780)CTC>CTT		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						56.0	54.0	55.0					10																	119014867		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119014867C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.780C>T	10.37:g.119014867C>T						SLC18A2_uc009xyy.1_Silent_p.L57L	p.L260L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	7	811	+		Colorectal(252;0.19)	260			Helical; (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.780C>T	CCDS7599.1																																																																																				0.627	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	
OR51E1	143503	broad.mit.edu	37	11	4673967	4673967	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:4673967G>C	ENST00000396952.5	+	2	861	c.211G>C	c.(211-213)Ggc>Cgc	p.G71R	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGCTTTCAGGCATTGACAT	0.453																																						uc001lzi.3																			0				large_intestine(3)|pancreas(1)	4						c.(211-213)GGC>CGC		olfactory receptor, family 51, subfamily E,							163.0	126.0	138.0					11																	4673967		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4673967G>C	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.211G>C	11.37:g.4673967G>C	ENSP00000380155:p.Gly71Arg						p.G71R	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	355	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	70			Helical; Name=2; (Potential).		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.211G>C	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890106	0.33348	.	.	ENSG00000180785	ENST00000396952	T	0.00547	6.66	4.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.872339	0.09785	N	0.756093	T	0.01092	0.0036	M	0.69523	2.12	0.09310	N	1	P	0.34909	0.475	B	0.41412	0.356	T	0.43925	-0.9361	10	0.62326	D	0.03	.	11.7118	0.51628	0.1017:0.0:0.8983:0.0	.	70	Q8TCB6	O51E1_HUMAN	R	71	ENSP00000380155:G71R	ENSP00000380155:G71R	G	+	1	0	OR51E1	4630543	0.000000	0.05858	1.000000	0.80357	0.886000	0.51366	0.014000	0.13333	2.413000	0.81919	0.655000	0.94253	GGC		0.453	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430	
OR4B1	119765	broad.mit.edu	37	11	48238725	48238725	+	Missense_Mutation	SNP	G	G	A	rs150231573	byFrequency	TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:48238725G>A	ENST00000309562.2	+	1	382	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGATTGCTACGTGGCCATTTG	0.473																																						uc010rhs.1																			0				skin(2)|ovary(1)|pancreas(1)	4						c.(364-366)GTG>ATG		olfactory receptor, family 4, subfamily B,		G	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	136.0	130.0	132.0		364	5.2	1.0	11	dbSNP_134	132	2,8594	2.2+/-6.3	0,2,4296	yes	missense	OR4B1	NM_001005470.1	21	0,3,6496	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	122/310	48238725	3,12995	2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238725G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.364G>A	11.37:g.48238725G>A	ENSP00000311605:p.Val122Met						p.V122M	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	364	+			122			Cytoplasmic (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.364G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194819	0.58017	2.27E-4	2.33E-4	ENSG00000175619	ENST00000309562	T	0.00366	7.79	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.150388	0.31697	N	0.007213	T	0.00608	0.0020	L	0.58925	1.835	0.37193	D	0.904023	D	0.55800	0.973	P	0.60173	0.87	T	0.76860	-0.2803	10	0.62326	D	0.03	.	9.8754	0.41200	0.0934:0.0:0.9066:0.0	.	122	Q8NGF8	OR4B1_HUMAN	M	122	ENSP00000311605:V122M	ENSP00000311605:V122M	V	+	1	0	OR4B1	48195301	0.356000	0.24930	0.978000	0.43139	0.381000	0.30169	0.648000	0.24828	2.428000	0.82296	0.385000	0.25706	GTG		0.473	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470	
MS4A14	84689	broad.mit.edu	37	11	60164081	60164081	+	Silent	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:60164081A>T	ENST00000300187.6	+	1	307	c.30A>T	c.(28-30)gcA>gcT	p.A10A	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.A10A|MS4A14_ENST00000395005.2_Silent_p.A10A|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	10						integral component of membrane (GO:0016021)		p.A10D(1)|p.A10A(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAGAAGGGCAACTCACGTCA	0.458																																						uc001npj.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	breast(1)	1						c.(28-30)GCA>GCT		membrane-spanning 4-domains, subfamily A, member							123.0	97.0	106.0					11																	60164081		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60164081A>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.30A>T	11.37:g.60164081A>T						MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Silent_p.A10A|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.A10A	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			1	595	+			10					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.30A>T	CCDS31569.1																																																																																				0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
P2RY2	5029	broad.mit.edu	37	11	72946285	72946285	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:72946285C>T	ENST00000311131.2	+	3	1548	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	P2RY2_ENST00000393597.2_Missense_Mutation_p.R361W|P2RY2_ENST00000393596.2_Missense_Mutation_p.R361W	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	361					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGACTCTAGGCGGACAGAGTC	0.582																																						uc001otj.2																			0		p.R361P(1)		ovary(2)|lung(1)|skin(1)	4						c.(1081-1083)CGG>TGG		purinergic receptor P2Y2	Suramin(DB04786)						89.0	93.0	92.0					11																	72946285		2171	4244	6415	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946285C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1081C>T	11.37:g.72946285C>T	ENSP00000310305:p.Arg361Trp					P2RY2_uc001otk.2_Missense_Mutation_p.R361W|P2RY2_uc001otl.2_Missense_Mutation_p.R361W	p.R361W	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	1414	+			361			Cytoplasmic (Potential).		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.1081C>T	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	5.120	0.207846	0.09704	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.73681	-0.77;-0.77;-0.77	3.87	0.74	0.18330	.	1.032440	0.07787	N	0.954254	T	0.48205	0.1487	N	0.08118	0	0.09310	N	1	P	0.51537	0.946	B	0.33521	0.165	T	0.43893	-0.9363	10	0.87932	D	0	.	7.096	0.25309	0.1855:0.4537:0.3608:0.0	.	361	P41231	P2RY2_HUMAN	W	361	ENSP00000377222:R361W;ENSP00000310305:R361W;ENSP00000377221:R361W	ENSP00000310305:R361W	R	+	1	2	P2RY2	72623933	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-0.152000	0.10159	0.171000	0.19730	0.561000	0.74099	CGG		0.582	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072	
GDPD5	81544	broad.mit.edu	37	11	75160035	75160035	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:75160035C>T	ENST00000336898.3	-	9	1538	c.701G>A	c.(700-702)cGc>cAc	p.R234H	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.R115H|GDPD5_ENST00000529721.1_Missense_Mutation_p.R234H|GDPD5_ENST00000526177.1_Missense_Mutation_p.R96H|GDPD5_ENST00000376282.3_Missense_Mutation_p.R115H	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	234	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.R234H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGGGGCCCCGCGGTGGCCAAT	0.607																																						uc001owo.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(700-702)CGC>CAC		glycerophosphodiester phosphodiesterase domain							46.0	48.0	48.0					11																	75160035		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75160035C>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.701G>A	11.37:g.75160035C>T	ENSP00000337972:p.Arg234His					GDPD5_uc001owp.3_Missense_Mutation_p.R234H|GDPD5_uc001own.3_5'UTR|GDPD5_uc009yuc.2_Missense_Mutation_p.R96H|GDPD5_uc009yud.2_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H	p.R234H	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN			10	1238	-			234			Extracellular (Potential).|GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.701G>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041352	0.93685	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000376282	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.27	5.27	0.74061	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.055956	0.64402	D	0.000001	D	0.82595	0.5071	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.97;0.985	D	0.88730	0.3236	10	0.87932	D	0	-28.3253	16.4369	0.83878	0.0:1.0:0.0:0.0	.	96;115;234	Q8WTR4-3;Q8WTR4-2;Q8WTR4	.;.;GDPD5_HUMAN	H	96;115;234;234;115	ENSP00000434050:R96H;ENSP00000437049:R115H;ENSP00000433214:R234H;ENSP00000337972:R234H;ENSP00000365459:R115H	ENSP00000337972:R234H	R	-	2	0	GDPD5	74837683	1.000000	0.71417	0.966000	0.40874	0.880000	0.50808	5.303000	0.65738	2.758000	0.94735	0.561000	0.74099	CGC		0.607	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792	
USP35	57558	broad.mit.edu	37	11	77920718	77920718	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:77920718G>A	ENST00000529308.1	+	10	2078	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	USP35_ENST00000530267.1_Missense_Mutation_p.C174Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.C337Y|USP35_ENST00000441408.2_Missense_Mutation_p.C192Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	606	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTGAGCGCTGTCGCCGCCGC	0.657																																						uc009yva.1																			0				lung(2)|ovary(1)	3						c.(1816-1818)TGT>TAT		ubiquitin specific protease 35							47.0	53.0	51.0					11																	77920718		2020	4151	6171	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77920718G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1817G>A	11.37:g.77920718G>A	ENSP00000431876:p.Cys606Tyr					USP35_uc001oze.2_Missense_Mutation_p.C362Y|USP35_uc001ozc.2_Missense_Mutation_p.C174Y|USP35_uc010rsp.1_Missense_Mutation_p.C38Y|USP35_uc001ozd.2_Missense_Mutation_p.C217Y|USP35_uc001ozf.2_Missense_Mutation_p.C337Y	p.C606Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2063	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		606						Missense_Mutation	SNP	ENST00000529308.1	37	c.1817G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	3.089	-0.187367	0.06299	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.12255	3.22;3.47;2.7;3.36	4.89	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.705821	0.12300	N	0.481191	T	0.07863	0.0197	N	0.22421	0.69	0.20489	N	0.999899	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.42327	-0.9458	10	0.15499	T	0.54	-3.3421	5.1508	0.15009	0.2466:0.1515:0.6018:0.0	.	606;192	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Y	174;606;192;337	ENSP00000435468:C174Y;ENSP00000431876:C606Y;ENSP00000400825:C192Y;ENSP00000434942:C337Y	ENSP00000400825:C192Y	C	+	2	0	USP35	77598366	0.996000	0.38824	0.774000	0.31636	0.849000	0.48306	2.029000	0.41098	0.661000	0.30985	0.586000	0.80456	TGT		0.657	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527	
HEPHL1	341208	broad.mit.edu	37	11	93803618	93803618	+	Missense_Mutation	SNP	G	G	A	rs200398960		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:93803618G>A	ENST00000315765.9	+	6	1150	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	381	Plastocyanin-like 3.		R -> C (in dbSNP:rs12291622).		copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAACAGAGGCGCTACTTTATA	0.443																																						uc001pep.2																			0				ovary(3)	3						c.(1141-1143)CGC>CAC		hephaestin-like 1 precursor		G	HIS/ARG	0,3690		0,0,1845	52.0	48.0	49.0		1142	-0.3	0.7	11		49	4,8174		0,4,4085	yes	missense	HEPHL1	NM_001098672.1	29	0,4,5930	AA,AG,GG		0.0489,0.0,0.0337	benign	381/1160	93803618	4,11864	1845	4089	5934	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93803618G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1142G>A	11.37:g.93803618G>A	ENSP00000313699:p.Arg381His					uc001pen.1_Intron	p.R381H	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			6	1299	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	381			Plastocyanin-like 3.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1142G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	1.879	-0.458357	0.04508	0.0	4.89E-4	ENSG00000181333	ENST00000315765	D	0.98876	-5.2	5.7	-0.323	0.12709	Cupredoxin (2);	0.680056	0.16003	N	0.234209	D	0.94221	0.8145	N	0.13299	0.325	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.86739	0.1953	10	0.25106	T	0.35	.	10.4347	0.44428	0.3591:0.0:0.6409:0.0	.	381	Q6MZM0	HPHL1_HUMAN	H	381	ENSP00000313699:R381H	ENSP00000313699:R381H	R	+	2	0	HEPHL1	93443266	0.000000	0.05858	0.737000	0.30932	0.849000	0.48306	-0.778000	0.04664	-0.352000	0.08237	0.650000	0.86243	CGC		0.443	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
FUT4	2526	broad.mit.edu	37	11	94278241	94278244	+	Frame_Shift_Del	DEL	CAAC	CAAC	-			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:94278241_94278244delCAAC	ENST00000358752.2	+	1	1225_1228	c.942_945delCAAC	c.(940-945)ttcaacfs	p.FN314fs	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	314					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTAACCTCTTCAACTGGACGCTCT	0.681																																						uc001pez.2																			0				skin(1)	1						c.(940-945)TTCAACfs		fucosyltransferase 4																																				SO:0001589	frameshift_variant	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278241_94278244delCAAC		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.942_945delCAAC	11.37:g.94278241_94278244delCAAC	ENSP00000351602:p.Phe314fs					PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	p.F314fs	NM_002033	NP_002024	P22083	FUT4_HUMAN			1	1225_1228	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	314_315			Lumenal (Potential).		B2RMS0	Frame_Shift_Del	DEL	ENST00000358752.2	37	c.942_945delCAAC	CCDS8301.1																																																																																				0.681	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033	
SOX5	6660	broad.mit.edu	37	12	24048786	24048786	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:24048786A>G	ENST00000451604.2	-	2	312	c.211T>C	c.(211-213)Tct>Cct	p.S71P	SOX5_ENST00000546136.1_Missense_Mutation_p.S58P|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000541847.1_Missense_Mutation_p.S61P|SOX5_ENST00000545921.1_Missense_Mutation_p.S61P|SOX5_ENST00000309359.1_Missense_Mutation_p.S58P|SOX5_ENST00000381381.2_Missense_Mutation_p.S58P|SOX5_ENST00000541536.1_Missense_Mutation_p.S58P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	71					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTCAGCAGAGAAACTGGCTGA	0.483																																						uc001rfw.2																			0				ovary(5)|lung(1)	6						c.(211-213)TCT>CCT		SRY (sex determining region Y)-box 5 isoform a							232.0	225.0	227.0					12																	24048786		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:24048786A>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.211T>C	12.37:g.24048786A>G	ENSP00000398273:p.Ser71Pro					SOX5_uc001rfx.2_Missense_Mutation_p.S58P|SOX5_uc001rfy.2_Missense_Mutation_p.S58P|SOX5_uc010siv.1_Missense_Mutation_p.S58P|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	p.S71P	NM_006940	NP_008871	P35711	SOX5_HUMAN			2	313	-			71					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.211T>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089730	0.36855	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000538083	D;D;D;D;D;D	0.97480	-4.37;-4.37;-4.4;-4.37;-4.4;-4.37	5.79	4.65	0.58169	.	0.221307	0.42053	D	0.000775	D	0.96084	0.8724	M	0.74258	2.255	0.42680	D	0.993543	B;P	0.37330	0.0;0.59	B;B	0.39971	0.0;0.315	D	0.94232	0.7477	10	0.34782	T	0.22	.	11.5995	0.50995	0.9307:0.0:0.0693:0.0	.	58;71	P35711-4;P35711	.;SOX5_HUMAN	P	58;58;58;71;58;61;61;58	ENSP00000437487:S58P;ENSP00000308927:S58P;ENSP00000370788:S58P;ENSP00000398273:S71P;ENSP00000441973:S58P;ENSP00000443520:S61P	ENSP00000308927:S58P	S	-	1	0	SOX5	23940053	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.863000	0.56016	1.031000	0.39867	0.528000	0.53228	TCT		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
OR8S1	341568	broad.mit.edu	37	12	48919470	48919470	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:48919470C>T	ENST00000310194.1	+	1	56	c.56C>T	c.(55-57)gCc>gTc	p.A19V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	19						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)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGCTGTCTGCCGACCCCAAC	0.512																																						uc010slu.1																			0				skin(1)	1						c.(55-57)GCC>GTC		olfactory receptor, family 8, subfamily S,							120.0	128.0	125.0					12																	48919470		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919470C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.56C>T	12.37:g.48919470C>T	ENSP00000310632:p.Ala19Val						p.A19V	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	56	+			19			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.56C>T	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392732	0.11638	.	.	ENSG00000197376	ENST00000310194	T	0.00438	7.42	5.02	-8.25	0.01025	.	1.480890	0.04627	N	0.403005	T	0.00210	0.0006	N	0.21545	0.675	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.45011	-0.9290	10	0.62326	D	0.03	-0.0339	0.5423	0.00647	0.4101:0.1719:0.1873:0.2307	.	19	Q8NH09	OR8S1_HUMAN	V	19	ENSP00000310632:A19V	ENSP00000310632:A19V	A	+	2	0	OR8S1	47205737	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.833000	0.01695	-1.340000	0.02227	-0.141000	0.14075	GCC		0.512	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1		
ADCY6	112	broad.mit.edu	37	12	49177053	49177053	+	Silent	SNP	G	G	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177053G>T	ENST00000307885.4	-	1	859	c.165C>A	c.(163-165)ccC>ccA	p.P55P	ADCY6_ENST00000550422.1_Silent_p.P55P|ADCY6_ENST00000357869.3_Silent_p.P55P	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	55					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCGCAGGGGTGGGGCTGGGTG	0.726																																						uc001rsh.3																			0					0						c.(163-165)CCC>CCA		adenylate cyclase 6 isoform a							12.0	15.0	14.0					12																	49177053		2190	4276	6466	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49177053G>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.165C>A	12.37:g.49177053G>T						ADCY6_uc001rsj.3_Silent_p.P55P|ADCY6_uc001rsi.3_Silent_p.P55P	p.P55P	NM_015270	NP_056085	O43306	ADCY6_HUMAN			1	825	-			55			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.165C>A	CCDS8767.1																																																																																				0.726	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983	
ADCY6	112	broad.mit.edu	37	12	49177063	49177063	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177063G>A	ENST00000307885.4	-	1	849	c.155C>T	c.(154-156)cCa>cTa	p.P52L	ADCY6_ENST00000550422.1_Missense_Mutation_p.P52L|ADCY6_ENST00000357869.3_Missense_Mutation_p.P52L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	52					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGGCTGGGTGGCTCTGCATC	0.716																																						uc001rsh.3																			0					0						c.(154-156)CCA>CTA		adenylate cyclase 6 isoform a							14.0	17.0	16.0					12																	49177063		2199	4294	6493	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49177063G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.155C>T	12.37:g.49177063G>A	ENSP00000311405:p.Pro52Leu					ADCY6_uc001rsj.3_Missense_Mutation_p.P52L|ADCY6_uc001rsi.3_Missense_Mutation_p.P52L	p.P52L	NM_015270	NP_056085	O43306	ADCY6_HUMAN			1	815	-			52			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.155C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961441	0.34565	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.78364	-1.17;-1.17;-1.17	5.13	5.13	0.70059	.	0.192856	0.44688	D	0.000439	T	0.57829	0.2080	N	0.14661	0.345	0.48901	D	0.999726	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.53344	-0.8452	10	0.22109	T	0.4	.	7.6114	0.28133	0.1726:0.0:0.8274:0.0	.	52;52	O43306-2;O43306	.;ADCY6_HUMAN	L	52	ENSP00000350536:P52L;ENSP00000446730:P52L;ENSP00000311405:P52L	ENSP00000311405:P52L	P	-	2	0	ADCY6	47463330	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	3.832000	0.55783	2.667000	0.90743	0.561000	0.74099	CCA		0.716	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983	
CEP290	80184	broad.mit.edu	37	12	88505570	88505570	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:88505570A>G	ENST00000552810.1	-	21	2461	c.2118T>C	c.(2116-2118)gaT>gaC	p.D706D	CEP290_ENST00000309041.7_Silent_p.D708D|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	706					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGGTAAGCTGATCAACTTGGG	0.368																																						uc001tar.2																			0				ovary(5)|breast(1)|pancreas(1)	7						c.(2116-2118)GAT>GAC		centrosomal protein 290kDa							52.0	50.0	51.0					12																	88505570		1806	4071	5877	SO:0001819	synonymous_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88505570A>G	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2118T>C	12.37:g.88505570A>G						CEP290_uc001tat.2_Silent_p.D499D|CEP290_uc009zsl.1_RNA	p.D706D	NM_025114	NP_079390	O15078	CE290_HUMAN			21	2462	-			706			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.2118T>C	CCDS55858.1																																																																																				0.368	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
ARL1	400	broad.mit.edu	37	12	101796696	101796696	+	Silent	SNP	C	C	T	rs375724509		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:101796696C>T	ENST00000261636.8	-	3	345	c.171G>A	c.(169-171)acG>acA	p.T57T	ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Silent_p.T40T|ARL1_ENST00000536227.1_Silent_p.T40T|ARL1_ENST00000551671.1_Silent_p.T57T|ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000539055.1_Silent_p.T11T	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	57					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.T57T(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GGTTTTTGTACGTCACCGTCT	0.358																																						uc001tib.2																			1	Substitution - coding silent(1)		large_intestine(1)	central_nervous_system(1)	1						c.(169-171)ACG>ACA		ADP-ribosylation factor-like 1		C		1,3651		0,1,1825	139.0	131.0	134.0		171	0.1	1.0	12		134	0,8172		0,0,4086	no	coding-synonymous	ARL1	NM_001177.4		0,1,5911	TT,TC,CC		0.0,0.0274,0.0085		57/182	101796696	1,11823	1826	4086	5912	SO:0001819	synonymous_variant	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101796696C>T	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.171G>A	12.37:g.101796696C>T						ARL1_uc010svn.1_Silent_p.T11T|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Silent_p.T57T	p.T57T	NM_001177	NP_001168	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	3	320	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	57					B4DWW1|P80417|Q53XB1	Silent	SNP	ENST00000261636.8	37	c.171G>A	CCDS44958.1																																																																																				0.358	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177	
SACS	26278	broad.mit.edu	37	13	23911703	23911703	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr13:23911703C>T	ENST00000382292.3	-	9	6585	c.6312G>A	c.(6310-6312)ggG>ggA	p.G2104G	SACS_ENST00000382298.3_Silent_p.G2104G|SACS_ENST00000402364.1_Silent_p.G1354G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2104					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAAAGGATGCCCCTCCAAGG	0.403																																						uc001uon.2																			0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(6310-6312)GGG>GGA		sacsin							61.0	62.0	62.0					13																	23911703		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911703C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6312G>A	13.37:g.23911703C>T						SACS_uc001uoo.2_Silent_p.G1957G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.G2104G	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6901	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2104					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.6312G>A	CCDS9300.2																																																																																				0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
HEATR5A	25938	broad.mit.edu	37	14	31816973	31816973	+	Missense_Mutation	SNP	C	C	T	rs569072683		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:31816973C>T	ENST00000389961.3	-	18	2830	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HEATR5A_ENST00000543095.2_Missense_Mutation_p.S950N|HEATR5A_ENST00000439348.1_Missense_Mutation_p.S944N|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S657N|HEATR5A_ENST00000404677.3_Missense_Mutation_p.S950N			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	944										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGAGAAGTGCTGTCCTGCGC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17779	0.0		0.0	False		,,,				2504	0.001					uc001wrf.3																			0				ovary(1)	1						c.(1969-1971)AGC>AAC		HEAT repeat containing 5A							55.0	55.0	55.0					14																	31816973		1897	4121	6018	SO:0001583	missense	25938						binding	g.chr14:31816973C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2831G>A	14.37:g.31816973C>T	ENSP00000374611:p.Ser944Asn					HEATR5A_uc010ami.2_Missense_Mutation_p.S555N|HEATR5A_uc001wrg.1_Missense_Mutation_p.S539N|HEATR5A_uc010tpk.1_Missense_Mutation_p.S950N	p.S657N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	13	2047	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		944					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.1970G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.244|1.244	-0.620491|-0.620491	0.03636|0.03636	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.66460	.|-0.21;-0.21;-0.21;-0.21;-0.21	5.06|5.06	1.0|1.0	0.19881|0.19881	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.395205	.|0.28796	.|N	.|0.014102	T|T	0.45357|0.45357	0.1338|0.1338	N|N	0.21194|0.21194	0.64|0.64	0.31668|0.31668	N|N	0.644722|0.644722	.|B;B;B	.|0.22211	.|0.008;0.066;0.002	.|B;B;B	.|0.23852	.|0.015;0.049;0.013	T|T	0.33929|0.33929	-0.9849|-0.9849	5|10	.|0.27082	.|T	.|0.32	.|.	5.5544|5.5544	0.17109|0.17109	0.0:0.5623:0.1294:0.3083|0.0:0.5623:0.1294:0.3083	.|.	.|950;944;944	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	T|N	578|944;944;657;950;950	.|ENSP00000374611:S944N;ENSP00000405407:S944N;ENSP00000408681:S657N;ENSP00000437968:S950N;ENSP00000384646:S950N	.|ENSP00000374611:S944N	A|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30886724|30886724	0.097000|0.097000	0.21791|0.21791	0.766000|0.766000	0.31476|0.31476	0.050000|0.050000	0.14768|0.14768	0.579000|0.579000	0.23788|0.23788	-0.094000|-0.094000	0.12374|0.12374	-1.193000|-1.193000	0.01689|0.01689	GCA|AGC		0.383	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
GPR132	29933	broad.mit.edu	37	14	105518249	105518249	+	Silent	SNP	G	G	A	rs371334440		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:105518249G>A	ENST00000329797.3	-	4	1136	c.225C>T	c.(223-225)aaC>aaT	p.N75N	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.N75N|GPR132_ENST00000392585.2_Silent_p.N66N	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	75					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGGCCAGCACGTTGCCCTGCA	0.647																																						uc001yqd.2																			0				ovary(2)|central_nervous_system(1)	3						c.(223-225)AAC>AAT		G protein-coupled receptor 132		G		1,4405	2.1+/-5.4	0,1,2202	68.0	64.0	65.0		225	2.6	1.0	14		65	0,8600		0,0,4300	no	coding-synonymous	GPR132	NM_013345.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		75/381	105518249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518249G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.225C>T	14.37:g.105518249G>A						GPR132_uc001yqc.2_Translation_Start_Site|GPR132_uc001yqe.2_Silent_p.N66N	p.N75N	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1124	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	75			Cytoplasmic (Potential).		A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.225C>T	CCDS9997.1																																																																																				0.647	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345	
NUTM1	256646	broad.mit.edu	37	15	34640826	34640826	+	Missense_Mutation	SNP	C	C	T	rs138533937		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:34640826C>T	ENST00000333756.4	+	2	828	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	NUTM1_ENST00000438749.3_Missense_Mutation_p.R243W|NUTM1_ENST00000537011.1_Missense_Mutation_p.R253W	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	225						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCCTTGGCCCGGAGGCACCT	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17676	0.0		0.0	False		,,,				2504	0.0					uc001zif.2										T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(673-675)CGG>TGG		nuclear protein in testis		C	TRP/ARG	0,4402		0,0,2201	61.0	64.0	63.0		673	2.8	0.7	15	dbSNP_134	63	2,8594	2.2+/-6.3	0,2,4296	yes	missense	C15orf55	NM_175741.1	101	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	225/1133	34640826	2,12996	2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34640826C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.673C>T	15.37:g.34640826C>T	ENSP00000329448:p.Arg225Trp					C15orf55_uc010ucc.1_Missense_Mutation_p.R253W|C15orf55_uc010ucd.1_Missense_Mutation_p.R243W	p.R225W	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	828	+		all_lung(180;2.78e-08)	225					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.673C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593596	0.66219	0.0	2.33E-4	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28895	1.59;1.59;1.59	5.69	2.76	0.32466	Nuclear Testis  protein, N-terminal (1);	0.457311	0.20812	N	0.085239	T	0.50446	0.1616	M	0.81802	2.56	0.29409	N	0.861377	D;D;B	0.89917	1.0;1.0;0.445	D;D;B	0.87578	0.998;0.996;0.11	T	0.49437	-0.8940	10	0.87932	D	0	.	4.0721	0.09887	0.2896:0.4926:0.1403:0.0774	.	243;253;225	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	W	253;243;225;225	ENSP00000444896:R253W;ENSP00000407031:R243W;ENSP00000329448:R225W	ENSP00000329448:R225W	R	+	1	2	C15orf55	32428118	0.218000	0.23608	0.748000	0.31131	0.908000	0.53690	-0.175000	0.09825	0.327000	0.23409	0.655000	0.94253	CGG		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
TRPM7	54822	broad.mit.edu	37	15	50935595	50935595	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:50935595A>G	ENST00000313478.7	-	5	758	c.477T>C	c.(475-477)ggT>ggC	p.G159G	TRPM7_ENST00000560955.1_Silent_p.G159G	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	159					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTTTAATAAGACCTTTTCCAA	0.383																																						uc001zyt.3																			0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(475-477)GGT>GGC		transient receptor potential cation channel,							126.0	117.0	119.0					15																	50935595		1845	4113	5958	SO:0001819	synonymous_variant	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50935595A>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.477T>C	15.37:g.50935595A>G						TRPM7_uc010bew.1_Silent_p.G159G	p.G159G	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	5	741	-			159			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37	c.477T>C	CCDS42035.1																																																																																				0.383	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
KIF7	374654	broad.mit.edu	37	15	90189143	90189143	+	Missense_Mutation	SNP	G	G	A	rs150543610		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:90189143G>A	ENST00000394412.3	-	8	1979	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	635	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTAAGGTCCGCCTGGGCGGc	0.652																																						uc002bof.2																			0				ovary(2)|lung(1)	3						c.(1903-1905)CGG>TGG		kinesin family member 7		G	TRP/ARG	2,4398	4.2+/-10.8	0,2,2198	76.0	72.0	73.0		1903	-3.0	0.0	15	dbSNP_134	73	0,8598		0,0,4299	no	missense	KIF7	NM_198525.2	101	0,2,6497	AA,AG,GG		0.0,0.0455,0.0154	benign	635/1344	90189143	2,12996	2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90189143G>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1903C>T	15.37:g.90189143G>A	ENSP00000377934:p.Arg635Trp					KIF7_uc010upw.1_Missense_Mutation_p.R122W	p.R635W	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		8	1980	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		635					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.1903C>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	g	5.928	0.355251	0.11239	4.55E-4	0.0	ENSG00000166813	ENST00000394412	T	0.72051	-0.62	3.84	-2.96	0.05547	.	1.363710	0.05123	N	0.491022	T	0.71576	0.3356	L	0.51422	1.61	0.09310	N	0.999991	D;D	0.76494	0.994;0.999	B;P	0.50082	0.432;0.63	T	0.68096	-0.5499	10	0.72032	D	0.01	.	12.0615	0.53564	0.0:0.0:0.3292:0.6708	.	122;635	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	W	635	ENSP00000377934:R635W	ENSP00000377934:R635W	R	-	1	2	KIF7	87990147	0.000000	0.05858	0.028000	0.17463	0.051000	0.14879	-0.075000	0.11431	-0.676000	0.05238	-0.287000	0.09952	CGG		0.652	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.2																			10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
UMOD	7369	broad.mit.edu	37	16	20357616	20357616	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr16:20357616A>T	ENST00000570689.1	-	5	1160	c.1014T>A	c.(1012-1014)aaT>aaA	p.N338K	UMOD_ENST00000424589.1_Missense_Mutation_p.N371K|UMOD_ENST00000396134.2_Missense_Mutation_p.N371K|UMOD_ENST00000396142.2_Missense_Mutation_p.N338K|UMOD_ENST00000302509.4_Missense_Mutation_p.N338K|UMOD_ENST00000396138.4_Missense_Mutation_p.N387K			P07911	UROM_HUMAN	uromodulin	338	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCTTCATGTCATTGGCCCCAC	0.557																																						uc002dgz.2																			0				ovary(1)|skin(1)	2						c.(1012-1014)AAT>AAA		uromodulin precursor							83.0	78.0	80.0					16																	20357616		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357616A>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1014T>A	16.37:g.20357616A>T	ENSP00000460548:p.Asn338Lys					UMOD_uc002dha.2_Missense_Mutation_p.N338K|UMOD_uc002dhb.2_Missense_Mutation_p.N371K	p.N338K	NM_003361	NP_003352	P07911	UROM_HUMAN			5	1143	-			338			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1014T>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.636379	0.29068	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.68	-0.0647	0.13771	Zona pellucida sperm-binding protein (3);	0.401425	0.21259	N	0.077504	T	0.68796	0.3040	L	0.31476	0.935	0.09310	N	1	P;B	0.43231	0.801;0.031	B;B	0.38106	0.265;0.062	T	0.60949	-0.7161	10	0.41790	T	0.15	-4.9059	8.2532	0.31739	0.4938:0.0:0.5061:0.0	.	371;338	E9PEA4;P07911	.;UROM_HUMAN	K	338;371;371;338;316;338	ENSP00000379438:N371K;ENSP00000416346:N371K;ENSP00000306279:N338K;ENSP00000379446:N338K	ENSP00000306279:N338K	N	-	3	2	UMOD	20265117	0.001000	0.12720	0.310000	0.25168	0.981000	0.71138	0.640000	0.24705	-0.078000	0.12730	0.260000	0.18958	AAT		0.557	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		
FRG2KP	102724018	broad.mit.edu	37	16	31580425	31580425	+	RNA	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr16:31580425G>A	ENST00000565692.1	-	0	0																											CCTACACTGCGCAGATATTTC	0.438																																						uc010vfr.1																			0					0						c.(394-396)CGC>TGC		SubName: Full=CSDA protein variant; Flags: Fragment;																																						440359							g.chr16:31580425G>A																													16.37:g.31580425G>A							p.R132C	NR_027011						1	421	-									Missense_Mutation	SNP	ENST00000565692.1	37	c.394C>T																																																																																					0.438	CTD-2014E2.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432903.1		
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs587782329		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7577535C>A	ENST00000269305.4	-	7	935	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R249M|TP53_ENST00000413465.2_Missense_Mutation_p.R249M|TP53_ENST00000445888.2_Missense_Mutation_p.R249M|TP53_ENST00000359597.4_Missense_Mutation_p.R249M|TP53_ENST00000455263.2_Missense_Mutation_p.R249M	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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(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)	GAGGATGGGCCTCCGGTTCAT	0.567		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		100	Substitution - Missense(74)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)	lung(22)|upper_aerodigestive_tract(12)|breast(8)|large_intestine(7)|liver(7)|stomach(6)|haematopoietic_and_lymphoid_tissue(5)|biliary_tract(5)|oesophagus(5)|skin(4)|bone(4)|central_nervous_system(3)|ovary(3)|adrenal_gland(2)|urinary_tract(2)|pancreas(2)|peritoneum(1)|soft_tissue(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(745-747)AGG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							154.0	113.0	127.0					17																	7577535		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577535C>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.746G>T	17.37:g.7577535C>A	ENSP00000269305:p.Arg249Met	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.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M	p.R249M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	940	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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.746G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284101	0.80803	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	4.62	3.64	0.41730	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	0.99871	0.9939	M	0.92367	3.3	0.52501	D	0.999959	P;D;P;P;D	0.89917	0.932;1.0;0.945;0.86;1.0	P;D;P;P;D	0.87578	0.622;0.998;0.795;0.453;0.991	D	0.96551	0.9408	10	0.87932	D	0	-3.0658	12.8645	0.57932	0.0:0.8349:0.1651:0.0	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	M	249;249;249;249;249;249;238;117	ENSP00000410739:R249M;ENSP00000352610:R249M;ENSP00000269305:R249M;ENSP00000398846:R249M;ENSP00000391127:R249M;ENSP00000391478:R249M;ENSP00000425104:R117M	ENSP00000269305:R249M	R	-	2	0	TP53	7518260	0.835000	0.29415	0.998000	0.56505	0.801000	0.45260	7.609000	0.82925	1.295000	0.44724	0.462000	0.41574	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CHD3	1107	broad.mit.edu	37	17	7811263	7811263	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7811263G>A	ENST00000330494.7	+	34	5228	c.5078G>A	c.(5077-5079)cGg>cAg	p.R1693Q	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.R1659Q|CHD3_ENST00000380358.4_Missense_Mutation_p.R1752Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1693	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GATGAGCCACGGTCCAATGGG	0.567																																						uc002gje.2																			0				breast(1)	1						c.(5077-5079)CGG>CAG		chromodomain helicase DNA binding protein 3							109.0	102.0	104.0					17																	7811263		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7811263G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5078G>A	17.37:g.7811263G>A	ENSP00000332628:p.Arg1693Gln					CHD3_uc002gjd.2_Missense_Mutation_p.R1752Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1659Q|CHD3_uc002gjh.2_Missense_Mutation_p.R270Q|CHD3_uc002gjj.2_5'Flank	p.R1693Q	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			34	5228	+		Prostate(122;0.202)	1693			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.5078G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057060	0.36277	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235	D;D;D	0.89810	-2.57;-2.51;-2.51	4.83	4.83	0.62350	.	0.000000	0.40554	N	0.001073	T	0.71634	0.3363	N	0.08118	0	0.33582	D	0.599998	B;P;P;P	0.41420	0.136;0.702;0.749;0.517	B;B;B;B	0.31495	0.011;0.13;0.131;0.065	T	0.76898	-0.2789	10	0.17369	T	0.5	-19.3747	10.4508	0.44520	0.0902:0.0:0.9098:0.0	.	270;1659;1693;1752	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	Q	1752;1659;1693;21	ENSP00000369716:R1752Q;ENSP00000350907:R1659Q;ENSP00000332628:R1693Q	ENSP00000332628:R1693Q	R	+	2	0	CHD3	7751988	0.004000	0.15560	1.000000	0.80357	0.998000	0.95712	1.612000	0.36889	2.509000	0.84616	0.561000	0.74099	CGG		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
MYH2	4620	broad.mit.edu	37	17	10428377	10428377	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:10428377A>G	ENST00000245503.5	-	34	5052	c.4668T>C	c.(4666-4668)tcT>tcC	p.S1556S	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.S1556S|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1556					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGTTCAAGAGATGCCTTAA	0.388																																						uc010coi.2																			0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4666-4668)TCT>TCC		myosin heavy chain IIa							79.0	81.0	80.0					17																	10428377		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428377A>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4668T>C	17.37:g.10428377A>G						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.S1556S|MYH2_uc010coj.2_Intron	p.S1556S	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			34	4796	-			1556			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4668T>C	CCDS11156.1																																																																																				0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
ABCA8	10351	broad.mit.edu	37	17	66924136	66924136	+	Silent	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:66924136A>T	ENST00000269080.2	-	9	1331	c.1194T>A	c.(1192-1194)atT>atA	p.I398I	ABCA8_ENST00000586539.1_Silent_p.I398I|ABCA8_ENST00000430352.2_Silent_p.I398I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	398					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGTTGCTACAATGAGATTTG	0.328																																						uc002jhp.2																			0				ovary(2)|skin(1)	3						c.(1192-1194)ATT>ATA		ATP-binding cassette, sub-family A member 8							66.0	67.0	67.0					17																	66924136		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66924136A>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1194T>A	17.37:g.66924136A>T						ABCA8_uc002jhq.2_Silent_p.I398I|ABCA8_uc010wqq.1_Silent_p.I398I|ABCA8_uc010wqr.1_Silent_p.I337I|ABCA8_uc002jhr.2_Silent_p.I398I	p.I398I	NM_007168	NP_009099	O94911	ABCA8_HUMAN			9	1373	-	Breast(10;4.56e-13)		398			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.1194T>A	CCDS11680.1																																																																																				0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
DSG3	1830	broad.mit.edu	37	18	29052349	29052349	+	Missense_Mutation	SNP	A	A	G	rs574305228		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr18:29052349A>G	ENST00000257189.4	+	13	2083	c.2000A>G	c.(1999-2001)cAt>cGt	p.H667R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	667					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)			GGAACAATTCATCAGTGGGGA	0.448													A|||	1	0.000199681	0.0	0.0014	5008	,	,		16847	0.0		0.0	False		,,,				2504	0.0					uc002kws.2																			0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1999-2001)CAT>CGT		desmoglein 3 preproprotein							95.0	97.0	96.0					18																	29052349		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.chr18:29052349A>G	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.2000A>G	18.37:g.29052349A>G	ENSP00000257189:p.His667Arg					DSG3_uc002kwt.2_5'Flank	p.H667R	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2109	+			667			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2000A>G	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.131126	0.37630	.	.	ENSG00000134757	ENST00000257189	T	0.49432	0.78	5.73	4.57	0.56435	.	0.000000	0.50627	D	0.000114	T	0.38983	0.1061	L	0.54323	1.7	0.31845	N	0.622959	B	0.31599	0.33	B	0.27887	0.084	T	0.48305	-0.9047	10	0.37606	T	0.19	.	8.1798	0.31305	0.7859:0.0:0.2141:0.0	.	667	P32926	DSG3_HUMAN	R	667	ENSP00000257189:H667R	ENSP00000257189:H667R	H	+	2	0	DSG3	27306347	0.541000	0.26417	0.989000	0.46669	0.994000	0.84299	1.260000	0.32968	0.995000	0.38917	0.383000	0.25322	CAT		0.448	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
ZFR2	23217	broad.mit.edu	37	19	3823274	3823274	+	Silent	SNP	C	C	A	rs371065673		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:3823274C>A	ENST00000262961.4	-	8	1351	c.1341G>T	c.(1339-1341)gcG>gcT	p.A447A		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	447							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCACCGGCTGCGCATCAGAGC	0.622																																						uc002lyw.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(1339-1341)GCG>GCT		zinc finger RNA binding protein 2 isoform 1							88.0	94.0	92.0					19																	3823274		1894	4108	6002	SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3823274C>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1341G>T	19.37:g.3823274C>A						ZFR2_uc010xhx.1_RNA	p.A447A	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	8	1353	-			447						Silent	SNP	ENST00000262961.4	37	c.1341G>T	CCDS45921.1																																																																																				0.622	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174	
RFX1	5989	broad.mit.edu	37	19	14079442	14079442	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:14079442C>T	ENST00000254325.4	-	12	1901	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	556					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGCTGCTGCCCCACCGCCAC	0.662																																						uc002mxv.2																			0				lung(1)|pancreas(1)	2						c.(1666-1668)GGG>GAG		regulatory factor X1							59.0	64.0	62.0					19																	14079442		2203	4298	6501	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14079442C>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1667G>A	19.37:g.14079442C>T	ENSP00000254325:p.Gly556Glu						p.G556E	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		12	1939	-			556						Missense_Mutation	SNP	ENST00000254325.4	37	c.1667G>A	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650606	0.47362	.	.	ENSG00000132005	ENST00000254325	T	0.59502	0.26	5.33	5.33	0.75918	.	0.419611	0.26855	N	0.022155	T	0.59985	0.2234	M	0.66939	2.045	0.35726	D	0.817566	P	0.47409	0.895	P	0.45232	0.474	T	0.70802	-0.4773	10	0.44086	T	0.13	-34.6237	13.5261	0.61594	0.0:0.843:0.157:0.0	.	556	P22670	RFX1_HUMAN	E	556	ENSP00000254325:G556E	ENSP00000254325:G556E	G	-	2	0	RFX1	13940442	0.955000	0.32602	1.000000	0.80357	0.451000	0.32288	3.131000	0.50515	2.503000	0.84419	0.561000	0.74099	GGG		0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918	
CPAMD8	27151	broad.mit.edu	37	19	17013524	17013524	+	Silent	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:17013524G>A	ENST00000443236.1	-	35	4792	c.4761C>T	c.(4759-4761)gaC>gaT	p.D1587D		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1540						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCATCATCGTCAGCTGGGG	0.662																																						uc002nfb.2																			0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4759-4761)GAC>GAT		C3 and PZP-like, alpha-2-macroglobulin domain																																				SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17013524G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4761C>T	19.37:g.17013524G>A						CPAMD8_uc002nfd.1_Silent_p.D52D	p.D1587D	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			35	4793	-			1540			Poly-Asp.		Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.4761C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.203212	0.01581	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.83	-3.0	0.05480	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51140	-0.8743	4	.	.	.	.	11.0516	0.47894	0.5823:0.0:0.4177:0.0	.	.	.	.	M	1598	.	.	T	-	2	0	CPAMD8	16874524	0.989000	0.36119	0.015000	0.15790	0.121000	0.20230	0.197000	0.17197	-1.262000	0.02459	-1.764000	0.00666	ACG		0.662	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
CEACAM20	125931	broad.mit.edu	37	19	45021085	45021085	+	RNA	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:45021085C>T	ENST00000454753.1	-	0	1509							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TAGATCCCGTCGTGTTCCCAG	0.592																																						uc010ejn.1																			0				large_intestine(2)	2						c.(1231-1233)GAC>AAC		carcinoembryonic antigen-related cell adhesion							60.0	65.0	64.0					19																	45021085		2057	4191	6248			125931					integral to membrane		g.chr19:45021085C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45021085C>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.D411N|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	p.D411N	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			6	1247	-		Prostate(69;0.0352)	411			Ig-like C2-type 4.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000454753.1	37	c.1231G>A																																																																																					0.592	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444	
VN1R2	317701	broad.mit.edu	37	19	53761868	53761868	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:53761868C>T	ENST00000341702.3	+	1	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	80					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458																																						uc002qbi.2																			0					0						c.(238-240)CAC>CAT		vomeronasal 1 receptor 2							40.0	40.0	40.0					19																	53761868		2191	4286	6477	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53761868C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.240C>T	19.37:g.53761868C>T							p.H80H	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	324	+			80			Cytoplasmic (Potential).		A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.240C>T	CCDS12862.1																																																																																				0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
GPN1	11321	broad.mit.edu	37	2	27861753	27861753	+	Splice_Site	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:27861753C>T	ENST00000610189.1	+	9	579	c.572C>T	c.(571-573)aCt>aTt	p.T191I	GPN1_ENST00000424214.1_Splice_Site_p.T112I|GPN1_ENST00000503738.1_Splice_Site_p.T96I|GPN1_ENST00000458167.2_Splice_Site_p.T96I|GPN1_ENST00000407583.3_Splice_Site_p.T179I|GPN1_ENST00000515877.1_Splice_Site_p.T112I|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000264718.3_Splice_Site_p.T205I	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						CTGGTACAGACTGACATCATT	0.393																																						uc010ymc.1																			0					0						c.(613-615)ACT>ATT		GPN-loop GTPase 1 isoform a							109.0	97.0	101.0					2																	27861753		2203	4300	6503	SO:0001630	splice_region_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861753C>T	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.571-1C>T	2.37:g.27861753C>T						GPN1_uc010ezf.2_Missense_Mutation_p.T179I|GPN1_uc010yma.1_Missense_Mutation_p.T112I|GPN1_uc010ymb.1_Missense_Mutation_p.T96I|GPN1_uc010ymd.1_Missense_Mutation_p.T86I|GPN1_uc010yme.1_Missense_Mutation_p.T205I|GPN1_uc010ezg.1_Missense_Mutation_p.T86I	p.T205I	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			9	635	+			191						Missense_Mutation	SNP	ENST00000610189.1	37	c.614C>T		.	.	.	.	.	.	.	.	.	.	C	15.79	2.936816	0.52972	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	N	0.01417	-0.88	0.80722	D	1	B;B;B;B	0.27951	0.195;0.17;0.085;0.053	B;B;B;B	0.40659	0.085;0.336;0.241;0.096	T	0.25882	-1.0119	10	0.06365	T	0.9	-14.4529	16.8827	0.86067	0.0:1.0:0.0:0.0	.	191;205;96;179	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	I	112;96;96;112;179;205	ENSP00000424678:T112I;ENSP00000427269:T96I;ENSP00000412170:T96I;ENSP00000398115:T112I;ENSP00000384255:T179I;ENSP00000264718:T205I	ENSP00000264718:T205I	T	+	2	0	GPN1	27715257	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.175000	0.77632	2.773000	0.95371	0.655000	0.94253	ACT		0.393	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266	Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179496000	179496000	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:179496000A>C	ENST00000591111.1	-	187	39076	c.38852T>G	c.(38851-38853)cTt>cGt	p.L12951R	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L12024R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L5527R|TTN_ENST00000359218.5_Missense_Mutation_p.L5652R|TTN_ENST00000342175.6_Missense_Mutation_p.L5719R|TTN_ENST00000589042.1_Missense_Mutation_p.L14592R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12951	Ig-like 86.				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)			ATAATCTTGAAGTTTTCCTGT	0.348																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(36070-36072)CTT>CGT		titin isoform N2-A							51.0	47.0	48.0					2																	179496000		1819	4086	5905	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179496000A>C	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.38852T>G	2.37:g.179496000A>C	ENSP00000465570:p.Leu12951Arg					TTN_uc010zfh.1_Missense_Mutation_p.L5719R|TTN_uc010zfi.1_Missense_Mutation_p.L5652R|TTN_uc010zfj.1_Missense_Mutation_p.L5527R	p.L12024R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		186	36295	-			12951					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.36071T>G		.	.	.	.	.	.	.	.	.	.	A	14.25	2.477947	0.44044	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78635	0.4314	H	0.95043	3.615	0.58432	D	0.999998	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;1.0	D	0.85345	0.1098	9	0.87932	D	0	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	5527;5652;5719;12951	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	12024;5527;5719;5652;5527	ENSP00000343764:L12024R;ENSP00000434586:L5527R;ENSP00000340554:L5719R;ENSP00000352154:L5652R	ENSP00000340554:L5719R	L	-	2	0	TTN	179204245	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.281000	0.95811	2.261000	0.74972	0.533000	0.62120	CTT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAH7	56171	broad.mit.edu	37	2	196753131	196753131	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:196753131C>G	ENST00000312428.6	-	33	5357	c.5257G>C	c.(5257-5259)Gag>Cag	p.E1753Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1753	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGTGAGGCTCCATGTAAATC	0.393																																						uc002utj.3																			0				skin(10)|ovary(2)	12						c.(5257-5259)GAG>CAG		dynein, axonemal, heavy chain 7							53.0	48.0	50.0					2																	196753131		1896	4114	6010	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196753131C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5257G>C	2.37:g.196753131C>G	ENSP00000311273:p.Glu1753Gln						p.E1753Q	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			33	5358	-			1753			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5257G>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236061	0.95240	.	.	ENSG00000118997	ENST00000312428	D	0.89196	-2.48	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95392	0.8504	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95223	0.8335	10	0.62326	D	0.03	.	19.71	0.96094	0.0:1.0:0.0:0.0	.	1753	Q8WXX0	DYH7_HUMAN	Q	1753	ENSP00000311273:E1753Q	ENSP00000311273:E1753Q	E	-	1	0	DNAH7	196461376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.653000	0.83643	2.827000	0.97445	0.655000	0.94253	GAG		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
ZDBF2	57683	broad.mit.edu	37	2	207171009	207171009	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:207171009A>G	ENST00000374423.3	+	5	2143	c.1757A>G	c.(1756-1758)gAt>gGt	p.D586G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	586							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGATTGTGATGTTTCTCTT	0.428																																						uc002vbp.2																			0				ovary(3)	3						c.(1756-1758)GAT>GGT		zinc finger, DBF-type containing 2							109.0	95.0	99.0					2																	207171009		1888	4115	6003	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171009A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1757A>G	2.37:g.207171009A>G	ENSP00000363545:p.Asp586Gly						p.D586G	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	2007	+			586					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1757A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189333	0.57909	.	.	ENSG00000204186	ENST00000374423	T	0.45276	0.9	4.09	1.72	0.24424	.	0.173462	0.27896	N	0.017413	T	0.31670	0.0804	M	0.64404	1.975	0.09310	N	1	P	0.43024	0.798	B	0.39465	0.3	T	0.18241	-1.0343	10	0.11794	T	0.64	.	5.9527	0.19255	0.8021:0.0:0.1979:0.0	.	586	Q9HCK1	ZDBF2_HUMAN	G	586	ENSP00000363545:D586G	ENSP00000363545:D586G	D	+	2	0	ZDBF2	206879254	0.096000	0.21769	0.069000	0.20011	0.980000	0.70556	0.404000	0.20999	0.385000	0.24970	0.528000	0.53228	GAT		0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
MMP9	4318	broad.mit.edu	37	20	44639814	44639814	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:44639814G>A	ENST00000372330.3	+	5	701	c.682G>A	c.(682-684)Gcg>Acg	p.A228T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	228	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CGCAGATGGCGCGGCCTGCCA	0.637																																						uc002xqz.2																			0		p.A228A(1)		ovary(1)|pancreas(1)	2						c.(682-684)GCG>ACG		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						94.0	105.0	102.0					20																	44639814		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639814G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.682G>A	20.37:g.44639814G>A	ENSP00000361405:p.Ala228Thr						p.A228T	NM_004994	NP_004985	P14780	MMP9_HUMAN			5	701	+		Myeloproliferative disorder(115;0.0122)	228			Fibronectin type-II 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.682G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395562	0.96009	.	.	ENSG00000100985	ENST00000372330	T	0.10099	2.91	4.56	4.56	0.56223	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.103114	0.64402	D	0.000002	T	0.25865	0.0630	M	0.85710	2.77	0.80722	D	1	D	0.53885	0.963	P	0.48270	0.572	T	0.15206	-1.0445	10	0.54805	T	0.06	.	16.8574	0.86009	0.0:0.0:1.0:0.0	.	228	P14780	MMP9_HUMAN	T	228	ENSP00000361405:A228T	ENSP00000361405:A228T	A	+	1	0	MMP9	44073221	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	5.388000	0.66249	2.514000	0.84764	0.650000	0.86243	GCG		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
SALL4	57167	broad.mit.edu	37	20	50408434	50408434	+	Silent	SNP	C	C	A	rs143754390	byFrequency	TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:50408434C>A	ENST00000217086.4	-	2	699	c.588G>T	c.(586-588)cgG>cgT	p.R196R	SALL4_ENST00000395997.3_Silent_p.R196R|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	196					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCGCGCTCCGCTGATTCA	0.602																																						uc002xwh.3																			0				ovary(2)	2						c.(586-588)CGG>CGT		sal-like 4							93.0	93.0	93.0					20																	50408434		2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408434C>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.588G>T	20.37:g.50408434C>A						SALL4_uc010gii.2_Silent_p.R196R|SALL4_uc002xwi.3_Intron	p.R196R	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	689	-			196					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.588G>T	CCDS13438.1																																																																																				0.602	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
ZNF860	344787	broad.mit.edu	37	3	32031844	32031844	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:32031844T>G	ENST00000360311.4	+	2	1822	c.1273T>G	c.(1273-1275)Tct>Gct	p.S425A		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TGAAGAGAGATCTTACAAGTG	0.348																																						uc011axg.1																			0				ovary(1)	1						c.(1273-1275)TCT>GCT		zinc finger protein 860							73.0	72.0	73.0					3																	32031844		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031844T>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1273T>G	3.37:g.32031844T>G	ENSP00000373274:p.Ser425Ala						p.S425A	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	1822	+			425					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1273T>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	T	8.716	0.913176	0.17907	.	.	ENSG00000197385	ENST00000360311	T	0.14893	2.47	0.336	-0.672	0.11377	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	N	0.25647	0.755	0.21652	N	0.999608	B	0.15141	0.012	B	0.14578	0.011	T	0.38929	-0.9638	8	.	.	.	.	4.4004	0.11383	0.0:0.6506:0.0:0.3494	.	425	A6NHJ4	ZN860_HUMAN	A	425	ENSP00000373274:S425A	.	S	+	1	0	ZNF860	32006848	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	0.288000	0.18939	-0.575000	0.05982	-0.578000	0.04140	TCT		0.348	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1		
SETD2	29072	broad.mit.edu	37	3	47127761	47127761	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:47127761T>C	ENST00000409792.3	-	11	5363	c.5321A>G	c.(5320-5322)cAt>cGt	p.H1774R	SETD2_ENST00000492397.1_5'Flank|snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1774					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGACAGCCCATGACGTTCCAG	0.498			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2				Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(5320-5322)CAT>CGT		SET domain containing 2							139.0	120.0	126.0					3																	47127761		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47127761T>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5321A>G	3.37:g.47127761T>C	ENSP00000386759:p.His1774Arg					SETD2_uc003cqv.2_Missense_Mutation_p.H1841R|SETD2_uc003cqt.1_5'Flank	p.H1774R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	11	5374	-		Acute lymphoblastic leukemia(5;0.0169)	1774					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.5321A>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600233	0.87055	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.90133	-2.62	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000019	D	0.94857	0.8338	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.95203	0.8318	10	0.62326	D	0.03	.	15.5762	0.76387	0.0:0.0:0.0:1.0	.	1774;1774	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1774	ENSP00000386759:H1774R	ENSP00000386759:H1774R	H	-	2	0	SETD2	47102765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.477000	0.81069	2.081000	0.62600	0.528000	0.53228	CAT		0.498	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
APEH	327	broad.mit.edu	37	3	49723304	49723304	+	IGR	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:49723304C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.P413P	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682																																						uc003cxg.2																			0				lung(1)	1						c.(1237-1239)CCG>CCA		macrophage stimulating 1 (hepatocyte growth							56.0	53.0	54.0					3																	49723304		2194	4278	6472	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723304C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723304C>T						MST1_uc011bcs.1_Missense_Mutation_p.R452H	p.P413P	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1311	-			399			Kringle 4.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1239G>A	CCDS2801.1																																																																																				0.682	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		
SLMAP	7871	broad.mit.edu	37	3	57898233	57898233	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:57898233G>T	ENST00000428312.1	+	18	1868	c.1774G>T	c.(1774-1776)Gca>Tca	p.A592S	SLMAP_ENST00000295952.3_Missense_Mutation_p.A575S|SLMAP_ENST00000495364.1_Missense_Mutation_p.A126S|SLMAP_ENST00000442599.2_Missense_Mutation_p.A60S|SLMAP_ENST00000416870.1_Missense_Mutation_p.A85S|SLMAP_ENST00000494088.1_Missense_Mutation_p.A85S|SLMAP_ENST00000449503.2_Missense_Mutation_p.A554S|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.A575S			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	592					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAAGCAGCAGCAAAGGTTGC	0.483																																						uc003dje.1																			0					0						c.(1774-1776)GCA>TCA		sarcolemma associated protein							97.0	92.0	94.0					3																	57898233		2203	4300	6503	SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57898233G>T	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1774G>T	3.37:g.57898233G>T	ENSP00000398661:p.Ala592Ser					SLMAP_uc003djd.1_Missense_Mutation_p.A575S|SLMAP_uc003djf.1_Missense_Mutation_p.A554S|SLMAP_uc003djg.1_Missense_Mutation_p.A186S|SLMAP_uc011bez.1_Missense_Mutation_p.A60S|SLMAP_uc011bfa.1_Missense_Mutation_p.A126S|SLMAP_uc003djh.2_Missense_Mutation_p.A85S|SLMAP_uc003dji.1_Missense_Mutation_p.A126S|SLMAP_uc011bfb.1_Missense_Mutation_p.A126S|SLMAP_uc011bfc.1_Missense_Mutation_p.A85S	p.A592S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	18	1979	+			592			Cytoplasmic (Potential).|Potential.		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1774G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.0|21.0|21.0	4.078792|4.078792|4.078792	0.76528|0.76528|0.76528	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088;ENST00000466255|ENST00000417128|ENST00000416658;ENST00000438794	T;T;T;T;T;T;T;T|.|.	0.43294|.|.	0.95;0.95;0.95;1.53;0.95;0.95;0.95;0.95|.|.	5.18|5.18|5.18	5.18|5.18|5.18	0.71444|0.71444|0.71444	Prefoldin beta-like (1);|.|.	0.204155|.|.	0.49916|.|.	D|.|.	0.000122|.|.	T|T|T	0.47911|0.47911|0.47911	0.1471|0.1471|0.1471	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.26158|0.26158|0.26158	N|N|N	0.980049|0.980049|0.980049	B;B;B;B;B;B;B;B|.|.	0.22541|.|.	0.036;0.014;0.029;0.071;0.015;0.023;0.009;0.023|.|.	B;B;B;B;B;B;B;B|.|.	0.36092|.|.	0.217;0.013;0.087;0.167;0.087;0.012;0.011;0.029|.|.	T|T|T	0.41574|0.41574|0.41574	-0.9501|-0.9501|-0.9501	10|5|5	0.46703|.|.	T|.|.	0.11|.|.	-0.578|-0.578|-0.578	19.0507|19.0507|19.0507	0.93043|0.93043|0.93043	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	85;60;126;85;186;554;592;575|.|.	B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3|.|.	.;.;.;.;.;.;SLMAP_HUMAN;.|.|.	S|H|I	575;575;85;592;554;186;60;126;85;85|175|199;129	ENSP00000295951:A575S;ENSP00000295952:A575S;ENSP00000412342:A85S;ENSP00000398661:A592S;ENSP00000412945:A554S;ENSP00000388978:A60S;ENSP00000419543:A126S;ENSP00000418218:A85S|.|.	ENSP00000295951:A575S|.|.	A|Q|S	+|+|+	1|3|2	0|2|0	SLMAP|SLMAP|SLMAP	57873273|57873273|57873273	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	5.121000|5.121000|5.121000	0.64691|0.64691|0.64691	2.584000|2.584000|2.584000	0.87258|0.87258|0.87258	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|CAG|AGC		0.483	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159	
ACTRT3	84517	broad.mit.edu	37	3	169487253	169487253	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:169487253G>A	ENST00000330368.2	-	1	430	c.56C>T	c.(55-57)gCg>gTg	p.A19V	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	19						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											AGCCACGCCCGCCTTGATCAT	0.672																																						uc003ffs.1																			0					0						c.(55-57)GCG>GTG		actin related protein M1							23.0	31.0	28.0					3																	169487253		2167	4271	6438	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169487253G>A	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.56C>T	3.37:g.169487253G>A	ENSP00000333037:p.Ala19Val						p.A19V	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		1	431	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		19					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.56C>T	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102059	0.94245	.	.	ENSG00000184378	ENST00000330368	D	0.97480	-4.4	4.4	4.4	0.53042	.	0.146689	0.31660	N	0.007279	D	0.97589	0.9210	L	0.58669	1.825	0.53688	D	0.999977	D	0.89917	1.0	D	0.63033	0.91	D	0.98281	1.0508	10	0.87932	D	0	.	16.2788	0.82658	0.0:0.0:1.0:0.0	.	19	Q9BYD9	ARPM1_HUMAN	V	19	ENSP00000333037:A19V	ENSP00000333037:A19V	A	-	2	0	AC078802.1	170969947	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	4.499000	0.60380	2.438000	0.82558	0.555000	0.69702	GCG		0.672	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487	
KIAA1109	84162	broad.mit.edu	37	4	123238013	123238013	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr4:123238013C>G	ENST00000264501.4	+	62	11039	c.10666C>G	c.(10666-10668)Ctg>Gtg	p.L3556V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L3556V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3556V			Q2LD37	K1109_HUMAN	KIAA1109	3556					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATAGATGATCTGAAGTATGT	0.328																																						uc003ieh.2																			0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10666-10668)CTG>GTG		fragile site-associated protein							88.0	88.0	88.0					4																	123238013		1822	4084	5906	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123238013C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10666C>G	4.37:g.123238013C>G	ENSP00000264501:p.Leu3556Val					KIAA1109_uc003iel.1_Missense_Mutation_p.L1491V	p.L3556V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			60	10711	+			3556					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10666C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.034719|4.034719	0.75617|0.75617	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000419325	T;T;T;T|.	0.61040|.	0.94;0.94;0.38;0.14|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.72431|0.72431	0.3459|0.3459	M|M	0.68593|0.68593	2.085|2.085	0.54753|0.54753	D|D	0.99998|0.99998	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.75484|.	0.986;0.978|.	T|T	0.71351|0.71351	-0.4619|-0.4619	10|5	0.87932|.	D|.	0|.	.|.	14.8521|14.8521	0.70306|0.70306	0.0:0.9294:0.0:0.0706|0.0:0.9294:0.0:0.0706	.|.	3556;3556|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	V|C	3556;3556;3556;239|1513	ENSP00000264501:L3556V;ENSP00000373390:L3556V;ENSP00000389925:L3556V;ENSP00000410874:L239V|.	ENSP00000264501:L3556V|.	L|S	+|+	1|2	2|0	KIAA1109|KIAA1109	123457463|123457463	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.937000|0.937000	0.57800|0.57800	4.655000|4.655000	0.61476|0.61476	2.637000|2.637000	0.89404|0.89404	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
CEP44	80817	broad.mit.edu	37	4	175229838	175229838	+	Splice_Site	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr4:175229838A>G	ENST00000503780.1	+	7	921		c.e7-1		CEP44_ENST00000426172.1_Splice_Site|CEP44_ENST00000296519.4_Splice_Site|CEP44_ENST00000457424.2_Splice_Site	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa							centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TTCTCTATGCAGAAGAAAGCT	0.328																																						uc003itr.2																			0					0						c.e7-2		HBV PreS1-transactivated protein 3 isoform a							88.0	89.0	89.0					4																	175229838		2203	4300	6503	SO:0001630	splice_region_variant	80817					centrosome|midbody|spindle pole		g.chr4:175229838A>G	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.508-1A>G	4.37:g.175229838A>G						KIAA1712_uc010iro.2_Splice_Site_p.K170_splice|KIAA1712_uc003its.2_Splice_Site	p.K170_splice	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)	7	922	+		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)						A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Splice_Site	SNP	ENST00000503780.1	37	c.508_splice	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537348	0.45176	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000515299;ENST00000426172;ENST00000296519	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4128	0.49935	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP44	175466413	1.000000	0.71417	0.943000	0.38184	0.743000	0.42351	4.245000	0.58734	2.114000	0.64651	0.528000	0.53228	.		0.328	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633	Intron
ZNF608	57507	broad.mit.edu	37	5	124080387	124080387	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:124080387T>G	ENST00000306315.5	-	1	731	c.296A>C	c.(295-297)aAa>aCa	p.K99T	ZNF608_ENST00000504926.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	99							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCTGGTCTCTTTGTGTGAATT	0.507																																						uc003ktq.1																			0				skin(3)|ovary(2)|lung(1)	6						c.(295-297)AAA>ACA		zinc finger protein 608							79.0	76.0	77.0					5																	124080387		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124080387T>G	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.296A>C	5.37:g.124080387T>G	ENSP00000307746:p.Lys99Thr					ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.K99T|ZNF608_uc003ktt.1_Missense_Mutation_p.K99T	p.K99T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	419	-		all_cancers(142;0.186)|Prostate(80;0.081)	99					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.296A>C	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170286	0.57584	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.49432	0.78	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.53110	0.1776	L	0.51422	1.61	0.40151	D	0.976947	D	0.56968	0.978	P	0.50659	0.647	T	0.57653	-0.7774	10	0.54805	T	0.06	-16.0979	15.3023	0.73962	0.0:0.0:0.0:1.0	.	99	Q9ULD9	ZN608_HUMAN	T	99	ENSP00000307746:K99T	ENSP00000307746:K99T	K	-	2	0	ZNF608	124108286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.003000	0.70701	2.158000	0.67659	0.533000	0.62120	AAA		0.507	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
PCDHA1	56147	broad.mit.edu	37	5	140166327	140166327	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:140166327G>A	ENST00000504120.2	+	1	452	c.452G>A	c.(451-453)cGt>cAt	p.R151H	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R151H|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R151H	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	151					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAATTCGCGTTTTCCGATA	0.448																																						uc003lhb.2																			0				skin(1)	1						c.(451-453)CGT>CAT		protocadherin alpha 1 isoform 1 precursor							87.0	97.0	94.0					5																	140166327		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166327G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.452G>A	5.37:g.140166327G>A	ENSP00000420840:p.Arg151His					PCDHA1_uc003lha.2_Missense_Mutation_p.R151H|PCDHA1_uc003lgz.2_Missense_Mutation_p.R151H	p.R151H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	452	+			151			Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.452G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.939752	0.34189	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.52983	0.64;0.64;0.64	4.13	2.16	0.27623	Cadherin (2);Cadherin-like (1);	0.814614	0.10017	N	0.726395	T	0.43122	0.1233	M	0.80183	2.485	0.09310	N	1	B;P;B	0.36753	0.146;0.568;0.414	B;B;B	0.31614	0.052;0.133;0.049	T	0.48305	-0.9047	10	0.54805	T	0.06	.	2.6662	0.05051	0.1722:0.1434:0.5374:0.147	.	151;151;151	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	H	151	ENSP00000420840:R151H;ENSP00000378129:R151H;ENSP00000367373:R151H	ENSP00000367373:R151H	R	+	2	0	PCDHA1	140146511	0.000000	0.05858	0.046000	0.18839	0.913000	0.54294	0.458000	0.21892	0.857000	0.35407	0.650000	0.86243	CGT		0.448	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
MYLIP	29116	broad.mit.edu	37	6	16141881	16141881	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr6:16141881G>C	ENST00000356840.3	+	3	502	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	MIR4639_ENST00000584938.1_RNA|MYLIP_ENST00000349606.4_5'UTR	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	102	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCACATCAAGGAGGCCCTCTT	0.512																																						uc003nbq.2																			0				pancreas(1)	1						c.(304-306)GAG>CAG		myosin regulatory light chain interacting							86.0	83.0	84.0					6																	16141881		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16141881G>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.304G>C	6.37:g.16141881G>C	ENSP00000349298:p.Glu102Gln					MYLIP_uc003nbr.2_5'UTR	p.E102Q	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		3	541	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	102			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.304G>C	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045020	0.55110	.	.	ENSG00000007944	ENST00000356840	T	0.78364	-1.17	5.33	5.33	0.75918	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.28400	0.85	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.69079	-0.5240	10	0.02654	T	1	.	19.037	0.92983	0.0:0.0:1.0:0.0	.	102	Q8WY64	MYLIP_HUMAN	Q	102	ENSP00000349298:E102Q	ENSP00000349298:E102Q	E	+	1	0	MYLIP	16249860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.413000	0.97351	2.504000	0.84457	0.563000	0.77884	GAG		0.512	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	
C7orf65	401335	broad.mit.edu	37	7	47698593	47698593	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:47698593C>A	ENST00000408988.2	+	3	258	c.223C>A	c.(223-225)Cta>Ata	p.L75I		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	75										endometrium(1)|lung(2)	3						CAGGGAGCTGCTATTTCTGTT	0.502																																						uc010kyp.1																			0					0						c.(223-225)CTA>ATA		hypothetical protein LOC401335							78.0	73.0	74.0					7																	47698593		1568	3582	5150	SO:0001583	missense	401335							g.chr7:47698593C>A		CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.223C>A	7.37:g.47698593C>A	ENSP00000386198:p.Leu75Ile						p.L75I	NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN			3	258	+			75					A4D2F8	Missense_Mutation	SNP	ENST00000408988.2	37	c.223C>A	CCDS43580.1	.	.	.	.	.	.	.	.	.	.	C	6.904	0.536292	0.13188	.	.	ENSG00000221845	ENST00000408988	.	.	.	1.32	-0.795	0.10915	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.09310	N	1	P	0.44659	0.84	B	0.39935	0.314	T	0.14254	-1.0479	8	0.87932	D	0	.	1.8732	0.03213	0.3212:0.4509:0.0:0.2279	.	75	Q6ZTY9	CG065_HUMAN	I	75	.	ENSP00000386198:L75I	L	+	1	2	C7orf65	47665118	0.002000	0.14202	0.001000	0.08648	0.086000	0.17979	0.120000	0.15647	-0.293000	0.08986	0.561000	0.74099	CTA		0.502	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065	
MUC17	140453	broad.mit.edu	37	7	100701312	100701312	+	Missense_Mutation	SNP	C	C	T	rs534194993		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:100701312C>T	ENST00000306151.4	+	13	13533	c.13469C>T	c.(13468-13470)aCg>aTg	p.T4490M	RN7SKP54_ENST00000410704.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4490					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGGTAATGACGACATCATTT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		16188	0.0		0.0	False		,,,				2504	0.001					uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(13468-13470)ACG>ATG		mucin 17 precursor							102.0	95.0	98.0					7																	100701312		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100701312C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13469C>T	7.37:g.100701312C>T	ENSP00000302716:p.Thr4490Met					MUC17_uc010lho.1_RNA	p.T4490M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			13	13522	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4490			Cytoplasmic (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.13469C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.095	0.015603	0.07959	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	3.54	-4.5	0.03493	.	.	.	.	.	T	0.00637	0.0021	N	0.00686	-1.255	0.09310	N	1	B	0.19583	0.037	B	0.06405	0.002	T	0.46062	-0.9218	9	0.33940	T	0.23	.	0.0747	0.00025	0.3193:0.2058:0.1623:0.3126	.	4490	Q685J3	MUC17_HUMAN	M	4490	ENSP00000302716:T4490M	ENSP00000302716:T4490M	T	+	2	0	MUC17	100488032	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	-0.157000	0.10085	-0.778000	0.04566	-1.769000	0.00663	ACG		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:107416977C>G	ENST00000340010.5	-	15	1781	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378																																						uc003ver.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1597-1599)GAA>CAA		solute carrier family 26, member 3							115.0	108.0	111.0					7																	107416977		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107416977C>G	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1597G>C	7.37:g.107416977C>G	ENSP00000345873:p.Glu533Gln					SLC26A3_uc003ves.2_Missense_Mutation_p.E498Q	p.E533Q	NM_000111	NP_000102	P40879	S26A3_HUMAN			15	1808	-			533			STAS.			Missense_Mutation	SNP	ENST00000340010.5	37	c.1597G>C	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	4.567	0.105228	0.08731	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94232	-3.38;-3.38	5.82	4.93	0.64822	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.397106	0.29948	N	0.010784	D	0.90195	0.6935	L	0.42245	1.32	0.44168	D	0.996978	B;B	0.26445	0.121;0.149	B;B	0.28553	0.047;0.091	D	0.85357	0.1105	10	0.36615	T	0.2	.	13.2746	0.60180	0.0:0.8209:0.1142:0.0649	.	498;533	G5E9U3;P40879	.;S26A3_HUMAN	Q	498;533	ENSP00000415817:E498Q;ENSP00000345873:E533Q	ENSP00000345873:E533Q	E	-	1	0	SLC26A3	107204213	0.993000	0.37304	0.710000	0.30468	0.048000	0.14542	2.976000	0.49289	0.827000	0.34685	-1.094000	0.02160	GAA		0.378	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
OR6B1	135946	broad.mit.edu	37	7	143701298	143701298	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:143701298A>T	ENST00000408922.2	+	1	277	c.209A>T	c.(208-210)gAg>gTg	p.E70V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	70						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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCCTTCTTGGAGACCTGGTAC	0.458																																						uc003wdt.1																			0				ovary(1)	1						c.(208-210)GAG>GTG		olfactory receptor, family 6, subfamily B,							128.0	130.0	129.0					7																	143701298		2101	4264	6365	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701298A>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.209A>T	7.37:g.143701298A>T	ENSP00000386151:p.Glu70Val						p.E70V	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	209	+	Melanoma(164;0.0783)		70			Helical; Name=2; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.209A>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303077	0.81136	.	.	ENSG00000221813	ENST00000408922	T	0.00448	7.38	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37261	U	0.002173	T	0.01940	0.0061	H	0.95780	3.72	0.50632	D	0.999887	D	0.89917	1.0	D	0.87578	0.998	T	0.13656	-1.0501	10	0.87932	D	0	.	12.9393	0.58333	1.0:0.0:0.0:0.0	.	70	O95007	OR6B1_HUMAN	V	70	ENSP00000386151:E70V	ENSP00000386151:E70V	E	+	2	0	OR6B1	143332231	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	4.212000	0.58514	2.154000	0.67381	0.455000	0.32223	GAG		0.458	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1		
RUNX1T1	862	broad.mit.edu	37	8	93027036	93027036	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:93027036G>A	ENST00000523629.1	-	4	693	c.239C>T	c.(238-240)aCg>aTg	p.T80M	RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T80M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T43M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T43M|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T53M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T91M|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.T43M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T43M|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T53M	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	80					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGAATGGCTCGTGCCATTAGT	0.473																																						uc003yfd.2																			0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(238-240)ACG>ATG		acute myelogenous leukemia 1 translocation 1							39.0	43.0	42.0					8																	93027036		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93027036G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.239C>T	8.37:g.93027036G>A	ENSP00000428543:p.Thr80Met					RUNX1T1_uc003yfc.1_Missense_Mutation_p.T53M|RUNX1T1_uc003yfe.1_Missense_Mutation_p.T43M|RUNX1T1_uc010mao.2_Missense_Mutation_p.T53M|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T91M|RUNX1T1_uc003yfh.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfb.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yff.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfg.1_Missense_Mutation_p.T43M	p.T80M	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		3	323	-			80					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.239C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312525	0.60414	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375;ENST00000520974;ENST00000518832	T;T;T;T;T;T;T;T;T;T;T	0.49139	1.4;1.41;1.4;1.43;1.43;1.43;1.37;1.41;0.83;0.79;1.42	6.05	6.05	0.98169	.	0.184062	0.56097	D	0.000025	T	0.43831	0.1265	N	0.03608	-0.345	0.58432	D	0.999994	B;B;D;B;D	0.56968	0.146;0.226;0.963;0.135;0.978	B;B;P;B;P	0.56343	0.012;0.019;0.563;0.019;0.796	T	0.53287	-0.8460	10	0.40728	T	0.16	-10.7425	20.6013	0.99457	0.0:0.0:1.0:0.0	.	91;91;53;80;53	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	M	80;53;80;43;43;43;91;53;43;80;43;80;43;80;80;53;43;43;80;80;53;53;80;80;43	ENSP00000428543:T80M;ENSP00000379520:T53M;ENSP00000265814:T80M;ENSP00000353504:T43M;ENSP00000390137:T43M;ENSP00000428742:T43M;ENSP00000402257:T91M;ENSP00000430728:T53M;ENSP00000429728:T43M;ENSP00000431094:T80M;ENSP00000427763:T43M	ENSP00000265814:T80M	T	-	2	0	RUNX1T1	93096212	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.574000	0.60900	2.878000	0.98634	0.650000	0.86243	ACG		0.473	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
KCNK9	51305	broad.mit.edu	37	8	140630517	140630517	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:140630517C>T	ENST00000520439.1	-	2	1172	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KCNK9_ENST00000303015.1_Missense_Mutation_p.R370H|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	370					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GGACTTCCGGCGTTTCATCAG	0.453																																						uc003yvf.1																			0				ovary(2)|lung(1)	3						c.(1108-1110)CGC>CAC		potassium channel, subfamily K, member 9							118.0	114.0	115.0					8																	140630517		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630517C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.1109G>A	8.37:g.140630517C>T	ENSP00000430676:p.Arg370His					KCNK9_uc003yvg.1_Missense_Mutation_p.R370H|KCNK9_uc003yve.1_RNA	p.R370H	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	1173	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	370			Cytoplasmic (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.1109G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520749	0.44866	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.35789	1.29;1.29;1.29	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.75264	2.295	0.33991	D	0.649134	D	0.89917	1.0	D	0.91635	0.999	T	0.71652	-0.4528	10	0.87932	D	0	.	12.9203	0.58228	0.162:0.838:0.0:0.0	.	370	Q9NPC2	KCNK9_HUMAN	H	370	ENSP00000429847:R370H;ENSP00000302166:R370H;ENSP00000430676:R370H	ENSP00000302166:R370H	R	-	2	0	KCNK9	140699699	0.925000	0.31364	0.046000	0.18839	0.317000	0.28152	7.093000	0.76937	2.684000	0.91462	0.563000	0.77884	CGC		0.453	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601	
PLEC	5339	broad.mit.edu	37	8	144992145	144992145	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:144992145C>T	ENST00000322810.4	-	32	12424	c.12255G>A	c.(12253-12255)tcG>tcA	p.S4085S	PLEC_ENST00000436759.2_Silent_p.S3975S|PLEC_ENST00000527096.1_Silent_p.S3971S|PLEC_ENST00000398774.2_Silent_p.S3916S|PLEC_ENST00000354589.3_Silent_p.S3948S|PLEC_ENST00000354958.2_Silent_p.S3926S|PLEC_ENST00000356346.3_Silent_p.S3934S|PLEC_ENST00000357649.2_Silent_p.S3952S|PLEC_ENST00000345136.3_Silent_p.S3948S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4085	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGGTACACCGAGAGCCGTT	0.612																																						uc003zaf.1																			0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(12253-12255)TCG>TCA		plectin isoform 1							26.0	31.0	29.0					8																	144992145		2111	4222	6333	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992145C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12255G>A	8.37:g.144992145C>T						PLEC_uc003zab.1_Silent_p.S3948S|PLEC_uc003zac.1_Silent_p.S3952S|PLEC_uc003zad.2_Silent_p.S3948S|PLEC_uc003zae.1_Silent_p.S3916S|PLEC_uc003zag.1_Silent_p.S3926S|PLEC_uc003zah.2_Silent_p.S3934S|PLEC_uc003zaj.2_Silent_p.S3975S	p.S4085S	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	12425	-			4085			Plectin 22.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12255G>A	CCDS43772.1																																																																																				0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R903H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567																																						uc003zsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2863-2865)CGC>CAC		nucleolar protein family 6 alpha isoform							148.0	131.0	137.0					9																	33464075		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33464075C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2864G>A	9.37:g.33464075C>T	ENSP00000368784:p.Arg955His					SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R9H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R952H|NOL6_uc011lob.1_Missense_Mutation_p.R903H|NOL6_uc003ztb.1_Missense_Mutation_p.R955H	p.R955H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	22	2965	-			955					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2864G>A		.	.	.	.	.	.	.	.	.	.	C	11.60	1.687040	0.29962	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.65	4.76	0.60689	.	0.144743	0.56097	D	0.000022	T	0.35393	0.0930	L	0.58101	1.795	0.39089	D	0.961056	B;B;B;B	0.25486	0.127;0.044;0.104;0.054	B;B;B;B	0.23018	0.028;0.017;0.023;0.043	T	0.24977	-1.0145	10	0.29301	T	0.29	.	7.4292	0.27118	0.0:0.7211:0.0:0.2789	.	903;952;955;955	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	H	9;955;955;511;955;903	ENSP00000368783:R9H;ENSP00000297990:R955H;ENSP00000368784:R955H;ENSP00000395915:R903H	ENSP00000297990:R955H	R	-	2	0	NOL6	33454075	1.000000	0.71417	0.982000	0.44146	0.019000	0.09904	3.448000	0.52943	1.534000	0.49203	0.655000	0.94253	CGC		0.567	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	
CXorf65	158830	broad.mit.edu	37	X	70325861	70325861	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chrX:70325861C>T	ENST00000374251.5	-	3	287	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	80										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTGGCCCACGTTCCACCTT	0.453																																						uc011mpo.1																			0				central_nervous_system(1)	1						c.(238-240)CGT>CAT		hypothetical protein LOC158830							146.0	113.0	124.0					X																	70325861		2203	4300	6503	SO:0001583	missense	158830							g.chrX:70325861C>T	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.239G>A	X.37:g.70325861C>T	ENSP00000363369:p.Arg80His					CXorf65_uc011mpp.1_Missense_Mutation_p.R32H	p.R80H	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN			3	253	-			80						Missense_Mutation	SNP	ENST00000374251.5	37	c.239G>A	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449630	0.43531	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.49432	0.78;0.78	4.87	4.01	0.46588	.	0.435071	0.21676	N	0.070781	T	0.54870	0.1885	L	0.42245	1.32	0.29070	N	0.88335	D	0.76494	0.999	D	0.68943	0.961	T	0.51060	-0.8753	10	0.62326	D	0.03	5.3552	6.8608	0.24066	0.0:0.7901:0.0:0.2099	.	80	A6NEN9	CX065_HUMAN	H	80	ENSP00000363369:R80H;ENSP00000411354:R80H	ENSP00000363369:R80H	R	-	2	0	CXorf65	70242586	0.315000	0.24571	0.732000	0.30844	0.291000	0.27294	0.063000	0.14410	1.047000	0.40274	0.529000	0.55759	CGT		0.453	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265	
