#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ESYT2	57488	broad.mit.edu	37	7	158557460	158557460	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:158557460C>G	ENST00000251527.5	-	9	1218	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	413	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.D385H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCATAGGGGTCTGACTTTCCC	0.433																																						ENST00000251527.5																			1	Substitution - Missense(1)	p.D385H(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1153-1155)Gac>Cac		extended synaptotagmin-like protein 2							149.0	138.0	142.0					7																	158557460		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158557460C>G	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1153G>C	7.37:g.158557460C>G	ENSP00000251527:p.Asp385His						p.D385H	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			9	1218	-			413			C2 1.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1153G>C	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591035	0.86851	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.18657	2.2;2.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79242	-0.1884	10	0.87932	D	0	-23.1765	18.7125	0.91662	0.0:1.0:0.0:0.0	.	413;385	A0FGR8-6;A0FGR8-2	.;.	H	385;413;355;209	ENSP00000251527:D385H;ENSP00000275418:D355H	ENSP00000251527:D385H	D	-	1	0	ESYT2	158250221	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.654000	0.83653	2.659000	0.90383	0.655000	0.94253	GAC		0.433	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		41	323	0	0	0	1	0	41	323				
BANF2	140836	broad.mit.edu	37	20	17716422	17716422	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:17716422A>C	ENST00000246090.5	+	4	501	c.239A>C	c.(238-240)cAc>cCc	p.H80P	BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000377805.3_Missense_Mutation_p.H80P	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	80						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H80P(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CAGACTTCTCACTGCCTCAAG	0.542																																						ENST00000246090.5																			1	Substitution - Missense(1)	p.H80P(1)	prostate(1)	large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						c.(238-240)cAc>cCc		barrier to autointegration factor 2							169.0	141.0	151.0					20																	17716422		2203	4300	6503	SO:0001583	missense	140836					cytoplasm|nucleus	DNA binding	g.chr20:17716422A>C	BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 179"""	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.239A>C	20.37:g.17716422A>C	ENSP00000246090:p.His80Pro					BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000377805.3_Missense_Mutation_p.H80P|BANF2_ENST00000467330.1_3'UTR	p.H80P	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN			4	501	+			80					D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	ENST00000246090.5	37	c.239A>C	CCDS13129.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738953	0.30774	.	.	ENSG00000125888	ENST00000545418;ENST00000377805;ENST00000246090	T;T;T	0.54279	0.58;0.58;0.58	5.43	-3.32	0.04973	.	0.631105	0.14915	N	0.291008	T	0.26268	0.0641	.	.	.	0.09310	N	1	B;B	0.20052	0.041;0.021	B;B	0.12156	0.007;0.005	T	0.08911	-1.0699	9	0.33141	T	0.24	.	0.296	0.00265	0.3051:0.2739:0.1644:0.2565	.	87;80	F5H3F6;Q9H503	.;BAFL_HUMAN	P	87;80;80	ENSP00000439128:H87P;ENSP00000367036:H80P;ENSP00000246090:H80P	ENSP00000246090:H80P	H	+	2	0	BANF2	17664422	0.000000	0.05858	0.006000	0.13384	0.967000	0.64934	-0.058000	0.11750	-0.244000	0.09639	0.459000	0.35465	CAC		0.542	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102261.2	NM_178477		37	86	0	0	0	1	0	37	86				
SCN5A	6331	broad.mit.edu	37	3	38618225	38618225	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38618225G>A	ENST00000333535.4	-	19	3587	c.3438C>T	c.(3436-3438)aaC>aaT	p.N1146N	SCN5A_ENST00000451551.2_Silent_p.N1092N|SCN5A_ENST00000455624.2_Silent_p.N1145N|SCN5A_ENST00000423572.2_Silent_p.N1145N|SCN5A_ENST00000449557.2_Silent_p.N1092N|SCN5A_ENST00000414099.2_Silent_p.N1146N|SCN5A_ENST00000413689.1_Silent_p.N1146N|SCN5A_ENST00000443581.1_Silent_p.N1145N|SCN5A_ENST00000425664.1_Silent_p.N1146N|SCN5A_ENST00000450102.2_Silent_p.N1092N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1146					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.N1146N(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCAGCGGTGTTGGTCATGT	0.617																																						ENST00000413689.1																			2	Substitution - coding silent(2)	p.N1146N(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3436-3438)aaC>aaT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						49.0	55.0	53.0					3																	38618225		2162	4271	6433	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38618225G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3438C>T	3.37:g.38618225G>A						SCN5A_ENST00000425664.1_Silent_p.N1146N|SCN5A_ENST00000414099.2_Silent_p.N1146N|SCN5A_ENST00000455624.2_Silent_p.N1145N|SCN5A_ENST00000451551.2_Silent_p.N1092N|SCN5A_ENST00000333535.4_Silent_p.N1146N|SCN5A_ENST00000450102.2_Silent_p.N1092N|SCN5A_ENST00000449557.2_Silent_p.N1092N|SCN5A_ENST00000443581.1_Silent_p.N1145N|SCN5A_ENST00000423572.2_Silent_p.N1145N	p.N1146N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	19	3631	-	Medulloblastoma(35;0.163)		1146					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.3438C>T	CCDS46796.1																																																																																				0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	24	0	0	0	1	0	3	24				
DNAJC13	23317	broad.mit.edu	37	3	132198111	132198111	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:132198111T>C	ENST00000260818.6	+	25	2998	c.2750T>C	c.(2749-2751)cTt>cCt	p.L917P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	917					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.L917P(1)|p.L300P(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTCTCTTCCTTAACAAGTTG	0.303																																						ENST00000260818.6																			2	Substitution - Missense(2)	p.L917P(1)|p.L300P(1)	prostate(2)	breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2749-2751)cTt>cCt		DnaJ (Hsp40) homolog, subfamily C, member 13							121.0	106.0	111.0					3																	132198111		2202	4298	6500	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132198111T>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2750T>C	3.37:g.132198111T>C	ENSP00000260818:p.Leu917Pro						p.L917P	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			25	2998	+			917					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2750T>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784851	0.90282	.	.	ENSG00000138246	ENST00000260818	T	0.69175	-0.38	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.072211	0.56097	D	0.000024	T	0.67951	0.2948	L	0.54323	1.7	0.80722	D	1	D	0.56968	0.978	P	0.45913	0.497	T	0.72937	-0.4140	10	0.87932	D	0	.	16.275	0.82640	0.0:0.0:0.0:1.0	.	917	O75165	DJC13_HUMAN	P	917	ENSP00000260818:L917P	ENSP00000260818:L917P	L	+	2	0	DNAJC13	133680801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.202000	0.77856	2.248000	0.74166	0.477000	0.44152	CTT		0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		15	153	0	0	0	1	0	15	153				
FBXO18	84893	broad.mit.edu	37	10	5948526	5948526	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:5948526G>A	ENST00000362091.4	+	3	799	c.684G>A	c.(682-684)ccG>ccA	p.P228P	FBXO18_ENST00000379999.5_Silent_p.P279P|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_De_novo_Start_InFrame	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	228					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.P279P(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTCCTCCCGGTGGAAGACC	0.567																																						ENST00000397269.3																			1	Substitution - coding silent(1)	p.P279P(1)	prostate(1)	NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40								F-box protein, helicase, 18							82.0	73.0	76.0					10																	5948526		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948526G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.684G>A	10.37:g.5948526G>A						FBXO18_ENST00000362091.4_Silent_p.P228P|FBXO18_ENST00000379999.5_Silent_p.P279P|FBXO18_ENST00000470089.1_3'UTR		NM_001258452.1	NP_001245381.1	Q8NFZ0	FBX18_HUMAN			0	853	+								Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Translation_Start_Site	SNP	ENST00000362091.4	37		CCDS7072.1																																																																																				0.567	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		42	138	0	0	0	1	0	42	138				
GBE1	2632	broad.mit.edu	37	3	81695585	81695585	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:81695585G>A	ENST00000429644.2	-	6	1383	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GBE1_ENST00000489715.1_Missense_Mutation_p.A206V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	247					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.A247V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ACCAAAGCTGGCATAGTAAGC	0.338									Glycogen Storage Disease, type IV																													ENST00000429644.2																			2	Substitution - Missense(2)	p.A247V(2)	prostate(2)	breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(739-741)gCc>gTc		glucan (1,4-alpha-), branching enzyme 1							109.0	105.0	107.0					3																	81695585		1863	4093	5956	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81695585G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.740C>T	3.37:g.81695585G>A	ENSP00000410833:p.Ala247Val					GBE1_ENST00000489715.1_Missense_Mutation_p.A206V	p.A247V	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	6	1383	-		Lung NSC(201;0.0117)	247					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.740C>T	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295629	0.95574	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.86865	-2.18;-2.18	5.32	5.32	0.75619	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047752	0.85682	D	0.000000	D	0.95245	0.8458	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.969;0.991	D	0.95864	0.8885	10	0.87932	D	0	-15.2709	19.1879	0.93651	0.0:0.0:1.0:0.0	.	206;247	E9PGM4;Q04446	.;GLGB_HUMAN	V	247;298;206;10	ENSP00000410833:A247V;ENSP00000419638:A206V	ENSP00000264326:A298V	A	-	2	0	GBE1	81778275	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.263000	0.95617	2.767000	0.95098	0.655000	0.94253	GCC		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			54	111	0	0	0	1	0	54	111				
TSTA3	7264	broad.mit.edu	37	8	144696809	144696809	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:144696809A>C	ENST00000425753.2	-	5	552	c.449T>G	c.(448-450)aTc>aGc	p.I150S	TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	150					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)	p.I150S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGCACGTCGATCATCCTCTT	0.662																																						ENST00000425753.2																			1	Substitution - Missense(1)	p.I150S(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(448-450)aTc>aGc		tissue specific transplantation antigen P35B	NADH(DB00157)						121.0	105.0	111.0					8																	144696809		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696809A>C	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.449T>G	8.37:g.144696809A>C	ENSP00000398803:p.Ile150Ser					TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S	p.I150S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		5	552	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		150					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.449T>G	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363785	0.82353	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	4.68	4.68	0.58851	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	M	0.81497	2.545	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.96396	0.9293	10	0.59425	D	0.04	-23.0735	12.9705	0.58510	1.0:0.0:0.0:0.0	.	150	Q13630	FCL_HUMAN	S	150	ENSP00000435386:I150S;ENSP00000398803:I150S;ENSP00000431587:I150S;ENSP00000437012:I150S	ENSP00000398803:I150S	I	-	2	0	TSTA3	144767952	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.562000	0.67346	1.748000	0.51833	0.383000	0.25322	ATC		0.662	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		27	119	0	0	0	1	0	27	119				
SERPINE1	5054	broad.mit.edu	37	7	100775172	100775172	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775172G>A	ENST00000223095.4	+	4	679	c.522G>A	c.(520-522)ttG>ttA	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAGCAACTTGCTTGGGAAAG	0.498																																						ENST00000223095.4																			1	Substitution - coding silent(1)	p.L174L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(520-522)ttG>ttA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						129.0	129.0	129.0					7																	100775172		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100775172G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.522G>A	7.37:g.100775172G>A						SERPINE1_ENST00000445463.2_Silent_p.L159L	p.L174L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			4	679	+	Lung NSC(181;0.136)|all_lung(186;0.182)		174					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.522G>A	CCDS5711.1																																																																																				0.498	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		19	311	0	0	0	1	0	19	311				
GAS2L2	246176	broad.mit.edu	37	17	34072056	34072056	+	Silent	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:34072056C>A	ENST00000254466.6	-	6	2487	c.2460G>T	c.(2458-2460)ctG>ctT	p.L820L	GAS2L2_ENST00000587565.1_Silent_p.L804L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	820					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGCTGCCCAGCACAGCTC	0.622																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2458-2460)ctG>ctT		growth arrest-specific 2 like 2							56.0	62.0	60.0					17																	34072056		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072056C>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2460G>T	17.37:g.34072056C>A						GAS2L2_ENST00000587565.1_Silent_p.L804L	p.L820L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2487	-		Ovarian(249;0.17)	820					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.2460G>T	CCDS11298.1																																																																																				0.622	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		5	232	1	0	1.23904e-05	1	1.27716e-05	5	232				
VAV3	10451	broad.mit.edu	37	1	108417620	108417620	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:108417620A>C	ENST00000370056.4	-	2	498	c.224T>G	c.(223-225)aTa>aGa	p.I75R	VAV3_ENST00000527011.1_Missense_Mutation_p.I75R|VAV3_ENST00000371846.4_Missense_Mutation_p.I10R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	75	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.I75R(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAATGTCCTTATGTTCTTCAA	0.398																																						ENST00000370056.4																			2	Substitution - Missense(2)	p.I75R(2)	prostate(2)	NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(223-225)aTa>aGa		vav 3 guanine nucleotide exchange factor							81.0	77.0	79.0					1																	108417620		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108417620A>C	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.224T>G	1.37:g.108417620A>C	ENSP00000359073:p.Ile75Arg					VAV3_ENST00000371846.4_Missense_Mutation_p.I10R|VAV3_ENST00000527011.1_Missense_Mutation_p.I75R	p.I75R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	2	498	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	75			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.224T>G	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.546321|4.546321	0.86022|0.86022	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.39997|.	1.05;1.05;1.05|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Calponin homology domain (5);|.	0.164825|.	0.51477|.	D|.	0.000100|.	D|.	0.86756|.	0.6009|.	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.988;0.999|.	D;D;D|.	0.81914|.	0.995;0.953;0.989|.	D|.	0.91319|.	0.5080|.	10|.	0.87932|.	D|.	0|.	.|.	15.4678|15.4678	0.75416|0.75416	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	75;75;75|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	R|E	75;75;10|70	ENSP00000359073:I75R;ENSP00000432540:I75R;ENSP00000360912:I10R|.	ENSP00000359073:I75R|.	I|X	-|-	2|1	0|0	VAV3|VAV3	108219143|108219143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.733000|8.733000	0.91539|0.91539	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATA|TAA		0.398	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		48	104	0	0	0	1	0	48	104				
AQR	9716	broad.mit.edu	37	15	35185937	35185937	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185937G>A	ENST00000156471.5	-	23	2723	c.2498C>T	c.(2497-2499)gCa>gTa	p.A833V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	833					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A833V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATCTGAACTGCCACATCTGT	0.413																																						ENST00000156471.5																			1	Substitution - Missense(1)	p.A833V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2497-2499)gCa>gTa		aquarius intron-binding spliceosomal factor							260.0	260.0	260.0					15																	35185937		1967	4152	6119	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35185937G>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2498C>T	15.37:g.35185937G>A	ENSP00000156471:p.Ala833Val						p.A833V	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	23	2723	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	833					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2498C>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908370	0.92107	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	T	0.80909	-1.43	5.57	4.64	0.57946	.	0.048018	0.85682	D	0.000000	D	0.87505	0.6194	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86872	0.2036	10	0.39692	T	0.17	-16.7041	16.4088	0.83699	0.0:0.1318:0.8682:0.0	.	833	O60306	AQR_HUMAN	V	833	ENSP00000156471:A833V	ENSP00000156471:A833V	A	-	2	0	AQR	32973229	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	9.837000	0.99465	1.339000	0.45563	0.655000	0.94253	GCA		0.413	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		70	144	0	0	0	1	0	70	144				
C7orf60	154743	broad.mit.edu	37	7	112555403	112555403	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:112555403G>C	ENST00000297145.4	-	2	425	c.260C>G	c.(259-261)gCa>gGa	p.A87G	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	87							rRNA (adenine) methyltransferase activity (GO:0016433)	p.A87G(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ACAAGTTTTTGCCCAATGATT	0.363																																						ENST00000297145.4																			1	Substitution - Missense(1)	p.A87G(1)	prostate(1)	breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(259-261)gCa>gGa		chromosome 7 open reading frame 60							162.0	153.0	156.0					7																	112555403		1878	4114	5992	SO:0001583	missense	154743							g.chr7:112555403G>C		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.260C>G	7.37:g.112555403G>C	ENSP00000297145:p.Ala87Gly					C7orf60_ENST00000485446.1_5'UTR	p.A87G	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			2	425	-			87					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.260C>G	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952150	0.53293	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.45	5.45	0.79879	.	0.103338	0.64402	D	0.000002	T	0.52693	0.1750	L	0.43152	1.355	0.58432	D	0.999996	P;B	0.39665	0.682;0.006	B;B	0.37731	0.257;0.001	T	0.48779	-0.9005	9	0.27082	T	0.32	-4.686	19.6493	0.95794	0.0:0.0:1.0:0.0	.	34;87	B4DST1;Q1RMZ1	.;CG060_HUMAN	G	87;69;34	.	ENSP00000297145:A87G	A	-	2	0	C7orf60	112342639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.216000	0.72212	2.711000	0.92665	0.591000	0.81541	GCA		0.363	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		49	147	0	0	0	1	0	49	147				
AGO2	27161	broad.mit.edu	37	8	141567320	141567320	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:141567320C>T	ENST00000220592.5	-	8	1006	c.894G>A	c.(892-894)caG>caA	p.Q298Q	AGO2_ENST00000519980.1_Silent_p.Q298Q	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	298	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.Q298Q(2)									GCCCGCTCTCCTGCTGCAGCG	0.592																																						ENST00000220592.5																			2	Substitution - coding silent(2)	p.Q298Q(2)	prostate(2)								c.(892-894)caG>caA		argonaute RISC catalytic component 2							85.0	88.0	87.0					8																	141567320		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141567320C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.894G>A	8.37:g.141567320C>T						AGO2_ENST00000519980.1_Silent_p.Q298Q	p.Q298Q	NM_012154.3	NP_036286.2					8	1006	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.894G>A	CCDS6380.1																																																																																				0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			6	286	0	0	0	1	0	6	286				
ZBTB43	23099	broad.mit.edu	37	9	129595973	129595973	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:129595973C>T	ENST00000373464.4	+	3	1449	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	ZBTB43_ENST00000449886.1_Silent_p.L395L|ZBTB43_ENST00000373457.1_Silent_p.L395L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L395L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGCACCTCGGTCTTCGGC	0.498																																						ENST00000373464.4																			1	Substitution - coding silent(1)	p.L395L(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1183-1185)ctC>ctT		zinc finger and BTB domain containing 43							77.0	72.0	74.0					9																	129595973		2203	4300	6503	SO:0001819	synonymous_variant	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595973C>T	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1185C>T	9.37:g.129595973C>T						ZBTB43_ENST00000373457.1_Silent_p.L395L|ZBTB43_ENST00000449886.1_Silent_p.L395L	p.L395L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1449	+			395					Q5JU96	Silent	SNP	ENST00000373464.4	37	c.1185C>T	CCDS6867.1																																																																																				0.498	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		71	124	0	0	0	1	0	71	124				
CHRDL2	25884	broad.mit.edu	37	11	74421957	74421957	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:74421957G>T	ENST00000376332.3	-	4	865	c.369C>A	c.(367-369)atC>atA	p.I123I	CHRDL2_ENST00000263671.5_Silent_p.I123I|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	123	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.I123I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGGCACTGAAGATCTCTCCGT	0.622																																						ENST00000376332.3																			1	Substitution - coding silent(1)	p.I123I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(367-369)atC>atA		chordin-like 2							173.0	160.0	165.0					11																	74421957		2200	4293	6493	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74421957G>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.369C>A	11.37:g.74421957G>T						CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.I123I	p.I123I	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			4	865	-	Hepatocellular(1;0.098)		123			VWFC 2.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.369C>A																																																																																					0.622	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			6	54	1	0	8.12818e-05	1	8.31433e-05	6	54				
ANO4	121601	broad.mit.edu	37	12	101473041	101473041	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:101473041G>C	ENST00000392977.3	+	15	1593	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C	ANO4_ENST00000392979.3_Missense_Mutation_p.W426C|ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000550015.1_Missense_Mutation_p.W28C			Q32M45	ANO4_HUMAN	anoctamin 4	461					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.W426C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATAGACTGGGAAGAAGAGG	0.433										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.W426C(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1276-1278)tgG>tgC		anoctamin 4							140.0	135.0	137.0					12																	101473041		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101473041G>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1383G>C	12.37:g.101473041G>C	ENSP00000376703:p.Trp461Cys	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.W461C|ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000550015.1_Missense_Mutation_p.W28C	p.W426C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			14	1639	+			461					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1278G>C		.	.	.	.	.	.	.	.	.	.	G	19.92	3.915956	0.73098	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.979	D;D;P	0.91635	0.999;0.948;0.889	T	0.81752	-0.0789	10	0.87932	D	0	.	18.7198	0.91688	0.0:0.0:1.0:0.0	.	28;461;426	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	C	426;28;461;28	ENSP00000376705:W426C;ENSP00000299222:W28C;ENSP00000376703:W461C;ENSP00000450192:W28C	ENSP00000299222:W28C	W	+	3	0	ANO4	99997172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.110000	0.94302	2.493000	0.84123	0.655000	0.94253	TGG		0.433	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		63	159	0	0	0	1	0	63	159				
CLCN1	1180	broad.mit.edu	37	7	143043270	143043270	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:143043270C>A	ENST00000343257.2	+	18	2297	c.2210C>A	c.(2209-2211)gCc>gAc	p.A737D		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	737					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.A737D(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTACTACTGCCCCTCTGTCC	0.597																																						ENST00000343257.2																			1	Substitution - Missense(1)	p.A737D(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2209-2211)gCc>gAc		chloride channel, voltage-sensitive 1							91.0	87.0	88.0					7																	143043270		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043270C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2210C>A	7.37:g.143043270C>A	ENSP00000339867:p.Ala737Asp						p.A737D	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			18	2297	+	Melanoma(164;0.205)		737					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2210C>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137208	0.01742	.	.	ENSG00000188037	ENST00000343257	D	0.85013	-1.93	4.34	2.49	0.30216	.	0.649310	0.13502	N	0.383161	T	0.73513	0.3596	L	0.35723	1.085	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.54275	-0.8318	10	0.13108	T	0.6	.	5.3262	0.15908	0.1998:0.6929:0.0:0.1074	.	737	P35523	CLCN1_HUMAN	D	737	ENSP00000339867:A737D	ENSP00000339867:A737D	A	+	2	0	CLCN1	142753392	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.353000	0.20130	0.293000	0.22520	0.561000	0.74099	GCC		0.597	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		4	158	1	0	2.56e-06	1	2.65922e-06	4	158				
TBC1D10C	374403	broad.mit.edu	37	11	67173158	67173158	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:67173158G>A	ENST00000542590.1	+	4	467	c.453G>A	c.(451-453)tcG>tcA	p.S151S	TBC1D10C_ENST00000312390.5_Silent_p.S151S|TBC1D10C_ENST00000526387.1_Silent_p.S151S			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	151	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.S151S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTTTGTGTCGCCTCAGGGCC	0.642																																						ENST00000312390.5																			1	Substitution - coding silent(1)	p.S151S(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(451-453)tcG>tcA		TBC1 domain family, member 10C							73.0	71.0	72.0					11																	67173158		2200	4295	6495	SO:0001819	synonymous_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67173158G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.453G>A	11.37:g.67173158G>A						TBC1D10C_ENST00000526387.1_Silent_p.S151S|TBC1D10C_ENST00000542590.1_Silent_p.S151S	p.S151S	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		5	482	+			151			Rab-GAP TBC.		G3V1D6	Silent	SNP	ENST00000542590.1	37	c.453G>A	CCDS8162.1																																																																																				0.642	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		40	83	0	0	0	1	0	40	83				
MUC16	94025	broad.mit.edu	37	19	9071592	9071592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071592G>T	ENST00000397910.4	-	3	16057	c.15854C>A	c.(15853-15855)cCc>cAc	p.P5285H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5285H(2)|p.P918H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTCCAAGGGAAGGGTACT	0.517																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.P5285H(2)|p.P918H(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15853-15855)cCc>cAc		mucin 16, cell surface associated							165.0	160.0	161.0					19																	9071592		2050	4203	6253	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071592G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15854C>A	19.37:g.9071592G>T	ENSP00000381008:p.Pro5285His						p.P5285H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16057	-			5287			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15854C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.714	-0.059003	0.07317	.	.	ENSG00000181143	ENST00000397910	T	0.25250	1.81	1.83	1.83	0.25207	.	.	.	.	.	T	0.12305	0.0299	N	0.14661	0.345	.	.	.	D	0.53462	0.96	B	0.37550	0.253	T	0.12426	-1.0548	8	0.87932	D	0	.	7.1931	0.25837	0.0:0.0:1.0:0.0	.	5285	B5ME49	.	H	5285	ENSP00000381008:P5285H	ENSP00000381008:P5285H	P	-	2	0	MUC16	8932592	.	.	0.002000	0.10522	0.003000	0.03518	.	.	1.330000	0.45394	0.449000	0.29647	CCC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		44	117	1	0	4.14194e-30	1	4.91168e-30	44	117				
VIL1	7429	broad.mit.edu	37	2	219305571	219305571	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:219305571C>T	ENST00000248444.5	+	19	2444	c.2356C>T	c.(2356-2358)Ccc>Tcc	p.P786S	VIL1_ENST00000392114.2_Missense_Mutation_p.P475S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	786	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.P786S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGTGGACCCCAGCAGGAA	0.537																																						ENST00000248444.5																			1	Substitution - Missense(1)	p.P786S(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2356-2358)Ccc>Tcc		villin 1							45.0	44.0	44.0					2																	219305571		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219305571C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2356C>T	2.37:g.219305571C>T	ENSP00000248444:p.Pro786Ser					VIL1_ENST00000392114.2_Missense_Mutation_p.P475S	p.P786S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	19	2444	+		Renal(207;0.0474)	786			HP.|Headpiece.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.2356C>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841492	0.91197	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.14893	2.47;2.5	5.85	5.85	0.93711	Villin headpiece (3);	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.76838	2.35	0.80722	D	1	D	0.58268	0.982	P	0.58454	0.839	T	0.14531	-1.0469	10	0.51188	T	0.08	-30.1042	20.1729	0.98161	0.0:1.0:0.0:0.0	.	786	P09327	VILI_HUMAN	S	786;475	ENSP00000248444:P786S;ENSP00000375962:P475S	ENSP00000248444:P786S	P	+	1	0	VIL1	219013815	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.536000	0.82023	2.775000	0.95449	0.603000	0.83216	CCC		0.537	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		17	45	0	0	0	1	0	17	45				
FOXN1	8456	broad.mit.edu	37	17	26851603	26851603	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851603G>A	ENST00000226247.2	+	2	235	c.206G>A	c.(205-207)cGc>cAc	p.R69H	FOXN1_ENST00000579795.1_Missense_Mutation_p.R69H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R69H(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CACAGCCCCCGCATTGCGTCA	0.647																																						ENST00000226247.2																			2	Substitution - Missense(2)	p.R69H(2)	large_intestine(1)|prostate(1)	endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)cGc>cAc		forkhead box N1							44.0	48.0	47.0					17																	26851603		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851603G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.206G>A	17.37:g.26851603G>A	ENSP00000226247:p.Arg69His					FOXN1_ENST00000579795.1_Missense_Mutation_p.R69H	p.R69H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			2	235	+	Lung NSC(42;0.00431)		69		R -> C (in dbSNP:rs2071587).			B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.206G>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866705	0.51588	.	.	ENSG00000109101	ENST00000226247	D	0.92397	-3.03	5.54	5.54	0.83059	.	0.063200	0.64402	D	0.000002	D	0.84401	0.5464	N	0.08118	0	0.27921	N	0.93824	B	0.17268	0.021	B	0.04013	0.001	T	0.77400	-0.2602	10	0.72032	D	0.01	.	16.5484	0.84457	0.0:0.0:1.0:0.0	.	69	O15353	FOXN1_HUMAN	H	69	ENSP00000226247:R69H	ENSP00000226247:R69H	R	+	2	0	FOXN1	23875730	0.965000	0.33210	0.972000	0.41901	0.368000	0.29767	1.535000	0.36061	2.768000	0.95171	0.561000	0.74099	CGC		0.647	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			51	111	0	0	0	1	0	51	111				
SLC5A7	60482	broad.mit.edu	37	2	108614336	108614336	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:108614336C>G	ENST00000264047.2	+	5	767	c.491C>G	c.(490-492)tCt>tGt	p.S164C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	164					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.S164C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGCACATTTCTGTCATCATC	0.468																																						ENST00000264047.2																			1	Substitution - Missense(1)	p.S164C(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(490-492)tCt>tGt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						343.0	297.0	312.0					2																	108614336		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108614336C>G	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.491C>G	2.37:g.108614336C>G	ENSP00000264047:p.Ser164Cys					SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C	p.S164C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			5	767	+			164					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.491C>G	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947545	0.53186	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.89552	-2.53;-2.53;-2.53	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.90501	0.7024	L	0.53780	1.695	0.80722	D	1	B	0.31581	0.329	B	0.42798	0.398	D	0.90164	0.4230	10	0.66056	D	0.02	-26.8969	18.8187	0.92088	0.0:1.0:0.0:0.0	.	164	Q9GZV3	SC5A7_HUMAN	C	164;59;164	ENSP00000387346:S164C;ENSP00000445351:S59C;ENSP00000264047:S164C	ENSP00000264047:S164C	S	+	2	0	SLC5A7	107980768	1.000000	0.71417	0.922000	0.36590	0.153000	0.21895	7.818000	0.86416	2.451000	0.82905	0.655000	0.94253	TCT		0.468	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			174	372	0	0	0	1	0	174	372				
INTS4	92105	broad.mit.edu	37	11	77702308	77702308	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:77702308G>C	ENST00000534064.1	-	2	126	c.92C>G	c.(91-93)aCa>aGa	p.T31R	INTS4_ENST00000527522.1_Missense_Mutation_p.T31R|INTS4_ENST00000529807.1_Missense_Mutation_p.T31R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	31					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.T31R(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACTTGGTTTTGTTAGTCGGAG	0.443																																						ENST00000534064.1																		INTS4/GAB2(2)	1	Substitution - Missense(1)	p.T31R(1)	prostate(1)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(91-93)aCa>aGa		integrator complex subunit 4							196.0	172.0	180.0					11																	77702308		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77702308G>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.92C>G	11.37:g.77702308G>C	ENSP00000434466:p.Thr31Arg					INTS4_ENST00000529807.1_Missense_Mutation_p.T31R|INTS4_ENST00000527522.1_Missense_Mutation_p.T31R	p.T31R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		2	126	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		31					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.92C>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749099	0.89753	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	.	.	.	5.41	5.41	0.78517	.	0.056032	0.64402	D	0.000002	T	0.56906	0.2017	L	0.50333	1.59	0.80722	D	1	P	0.50272	0.933	B	0.41860	0.368	T	0.63902	-0.6532	9	0.87932	D	0	-17.0962	19.3872	0.94563	0.0:0.0:1.0:0.0	.	31	Q96HW7	INT4_HUMAN	R	31	.	ENSP00000407787:T31R	T	-	2	0	INTS4	77379956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.953000	0.93041	2.815000	0.96918	0.643000	0.83706	ACA		0.443	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		50	125	0	0	0	1	0	50	125				
ADAD2	161931	broad.mit.edu	37	16	84229837	84229837	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:84229837G>A	ENST00000315906.5	+	8	1439	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A545T|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	463	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.A545T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGTCCGGACCGCCCTGCACCT	0.697																																						ENST00000268624.3																			1	Substitution - Missense(1)	p.A545T(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1633-1635)Gcc>Acc		adenosine deaminase domain containing 2							52.0	59.0	57.0					16																	84229837		2200	4299	6499	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229837G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1387G>A	16.37:g.84229837G>A	ENSP00000325153:p.Ala463Thr					RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.A463T|RP11-486L19.2_ENST00000536986.1_RNA	p.A545T	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			9	1726	+			463			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1633G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995702	0.00435	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93189	-3.18;-3.18	5.02	2.35	0.29111	Adenosine deaminase/editase (2);	0.705056	0.14154	N	0.337807	T	0.74786	0.3762	N	0.00885	-1.115	0.09310	N	1	B;B	0.14805	0.001;0.011	B;B	0.04013	0.001;0.001	T	0.66567	-0.5891	10	0.15499	T	0.54	-12.9939	4.6917	0.12785	0.6436:0.2496:0.1067:0.0	.	463;545	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	T	463;545	ENSP00000325153:A463T;ENSP00000268624:A545T	ENSP00000268624:A545T	A	+	1	0	ADAD2	82787338	0.001000	0.12720	0.009000	0.14445	0.072000	0.16883	1.099000	0.31013	0.854000	0.35336	-0.459000	0.05422	GCC		0.697	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		71	94	0	0	0	1	0	71	94				
RIMBP3	85376	broad.mit.edu	37	22	20458475	20458475	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:20458475C>T	ENST00000426804.1	-	1	3311	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	943								p.G943R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGCACAGCCCTCTGTCCACC	0.577																																						ENST00000426804.1																			1	Substitution - Missense(1)	p.G943R(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(2827-2829)Ggg>Agg		RIMS binding protein 3							111.0	123.0	119.0					22																	20458475		2031	4195	6226	SO:0001583	missense	85376							g.chr22:20458475C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2827G>A	22.37:g.20458475C>T	ENSP00000391564:p.Gly943Arg						p.G943R	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3311	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.2827G>A	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732554	0.48939	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17213	2.29	3.87	3.87	0.44632	.	0.311468	0.29522	N	0.011911	T	0.11836	0.0288	N	0.17082	0.46	0.09310	N	1	P	0.51653	0.947	P	0.45660	0.489	T	0.17198	-1.0377	10	0.17832	T	0.49	-5.0567	11.7453	0.51817	0.0:1.0:0.0:0.0	.	849	Q9UFD9	RIM3A_HUMAN	R	849;943	ENSP00000391564:G943R	ENSP00000347318:G849R	G	-	1	0	RIMBP3	18838475	0.030000	0.19436	0.004000	0.12327	0.064000	0.16182	3.065000	0.49994	1.886000	0.54624	0.398000	0.26397	GGG		0.577	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		19	84	0	0	0	1	0	19	84				
NYNRIN	57523	broad.mit.edu	37	14	24885319	24885319	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:24885319G>C	ENST00000382554.3	+	9	4682	c.4364G>C	c.(4363-4365)tGg>tCg	p.W1455S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1455					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.W1455S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGTGGGCAGTGGTGGAGTTTG	0.592																																						ENST00000382554.3																			1	Substitution - Missense(1)	p.W1455S(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4363-4365)tGg>tCg		NYN domain and retroviral integrase containing							45.0	48.0	47.0					14																	24885319		2026	4164	6190	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885319G>C	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4364G>C	14.37:g.24885319G>C	ENSP00000371994:p.Trp1455Ser						p.W1455S	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	4682	+			1455					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.4364G>C	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041845	0.19748	.	.	ENSG00000205978	ENST00000382554	T	0.11930	2.73	5.39	0.947	0.19555	.	.	.	.	.	T	0.07818	0.0196	N	0.14661	0.345	0.19300	N	0.999977	B	0.06786	0.001	B	0.01281	0.0	T	0.34725	-0.9817	9	0.38643	T	0.18	.	8.3113	0.32073	0.0:0.3944:0.3086:0.297	.	1455	Q9P2P1	NYNRI_HUMAN	S	1455	ENSP00000371994:W1455S	ENSP00000371994:W1455S	W	+	2	0	NYNRIN	23955159	0.998000	0.40836	0.936000	0.37596	0.997000	0.91878	1.674000	0.37544	0.342000	0.23796	0.655000	0.94253	TGG		0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			36	62	0	0	0	1	0	36	62				
PSMD2	5708	broad.mit.edu	37	3	184026525	184026525	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:184026525G>C	ENST00000310118.4	+	21	3132	c.2574G>C	c.(2572-2574)aaG>aaC	p.K858N	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	858					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 protein catabolic process (GO:0042176)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.K858N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGGCTGGCAAGCCGAAGACTA	0.547											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			1	Substitution - Missense(1)	p.K858N(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(2572-2574)aaG>aaC		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						76.0	82.0	80.0					3																	184026525		2203	4300	6503	SO:0001583	missense	5708				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|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 protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184026525G>C	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2574G>C	3.37:g.184026525G>C	ENSP00000310129:p.Lys858Asn		OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N|EIF2B5_ENST00000444495.1_Intron	p.K858N	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	3132	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		858					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.2574G>C	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560141	0.27827	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.46451	0.87;0.87;0.87	5.72	3.95	0.45737	.	0.096682	0.64402	D	0.000002	T	0.61110	0.2321	M	0.72479	2.2	0.58432	D	0.999992	B;D	0.57899	0.042;0.981	B;D	0.69824	0.037;0.966	T	0.63225	-0.6685	10	0.72032	D	0.01	-25.7426	12.0362	0.53427	0.1402:0.0:0.8598:0.0	.	699;858	E9PCS3;Q13200	.;PSMD2_HUMAN	N	858;530;850;699;728	ENSP00000310129:K858N;ENSP00000402618:K699N;ENSP00000416028:K728N	ENSP00000310129:K858N	K	+	3	2	PSMD2	185509219	1.000000	0.71417	0.997000	0.53966	0.465000	0.32709	2.314000	0.43743	0.775000	0.33450	-0.136000	0.14681	AAG		0.547	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		31	106	0	0	0	1	0	31	106				
AQR	9716	broad.mit.edu	37	15	35185970	35185970	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185970A>C	ENST00000156471.5	-	23	2690	c.2465T>G	c.(2464-2466)gTg>gGg	p.V822G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	822					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V822G(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGTGGGCCCACAACCTAAAA	0.393																																						ENST00000156471.5																			1	Substitution - Missense(1)	p.V822G(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2464-2466)gTg>gGg		aquarius intron-binding spliceosomal factor							198.0	193.0	194.0					15																	35185970		1911	4138	6049	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35185970A>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2465T>G	15.37:g.35185970A>C	ENSP00000156471:p.Val822Gly						p.V822G	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	23	2690	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	822					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2465T>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132021	0.77662	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82344	-1.6	5.57	4.43	0.53597	.	0.055226	0.64402	D	0.000001	D	0.91885	0.7431	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92334	0.5876	10	0.72032	D	0.01	-15.8434	11.9319	0.52851	0.8696:0.0:0.0:0.1304	.	822	O60306	AQR_HUMAN	G	822	ENSP00000156471:V822G	ENSP00000156471:V822G	V	-	2	0	AQR	32973262	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.310000	0.96267	0.920000	0.36970	0.533000	0.62120	GTG		0.393	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		41	123	0	0	0	1	0	41	123				
OR5P2	120065	broad.mit.edu	37	11	7818051	7818051	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:7818051C>A	ENST00000329434.2	-	1	469	c.439G>T	c.(439-441)Gct>Tct	p.A147S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A147S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAACCAGCTATGTAAACT	0.403																																						ENST00000329434.2																			1	Substitution - Missense(1)	p.A147S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(439-441)Gct>Tct		olfactory receptor, family 5, subfamily P, member 2							63.0	75.0	71.0					11																	7818051		2099	4292	6391	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818051C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.439G>T	11.37:g.7818051C>A	ENSP00000331823:p.Ala147Ser					RP11-35J10.5_ENST00000527565.1_lincRNA	p.A147S	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	469	-			147					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.439G>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	4.575	0.106898	0.08780	.	.	ENSG00000183303	ENST00000329434	T	0.37584	1.19	5.5	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.173042	0.41500	D	0.000864	T	0.23330	0.0564	N	0.16602	0.42	0.09310	N	1	B	0.09022	0.002	B	0.15870	0.014	T	0.12293	-1.0553	10	0.23302	T	0.38	-2.6433	13.6176	0.62118	0.1557:0.8443:0.0:0.0	.	147	Q8WZ92	OR5P2_HUMAN	S	147	ENSP00000331823:A147S	ENSP00000331823:A147S	A	-	1	0	OR5P2	7774627	0.000000	0.05858	0.087000	0.20705	0.001000	0.01503	0.696000	0.25541	1.555000	0.49500	0.555000	0.69702	GCT		0.403	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		42	137	1	0	6.4771e-29	1	7.48217e-29	42	137				
TAF1L	138474	broad.mit.edu	37	9	32632549	32632549	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:32632549G>A	ENST00000242310.4	-	1	3118	c.3029C>T	c.(3028-3030)aCa>aTa	p.T1010I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1010					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.T1010I(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCTGCATCTGTTCCTGTCAC	0.458																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.T1010I(1)	prostate(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3028-3030)aCa>aTa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							267.0	246.0	253.0					9																	32632549		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632549G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3029C>T	9.37:g.32632549G>A	ENSP00000418379:p.Thr1010Ile						p.T1010I	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3118	-			1010					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3029C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645926	0.67358	.	.	ENSG00000122728	ENST00000242310	T	0.15603	2.41	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.044536	0.85682	D	0.000000	T	0.42765	0.1217	M	0.91354	3.2	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.40079	-0.9582	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1010	Q8IZX4	TAF1L_HUMAN	I	1010	ENSP00000418379:T1010I	ENSP00000418379:T1010I	T	-	2	0	TAF1L	32622549	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	3.409000	0.52657	0.507000	0.28148	0.195000	0.17529	ACA		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			154	334	0	0	0	1	0	154	334				
HYDIN	54768	broad.mit.edu	37	16	70867982	70867982	+	Missense_Mutation	SNP	C	C	G	rs200741838		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:70867982C>G	ENST00000393567.2	-	79	13637	c.13487G>C	c.(13486-13488)cGt>cCt	p.R4496P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4496					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R4447P(1)|p.R4495P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGAGGGACACGCTTCTTCGG	0.552																																						ENST00000393567.2																			2	Substitution - Missense(2)	p.R4447P(1)|p.R4495P(1)	prostate(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13486-13488)cGt>cCt		HYDIN, axonemal central pair apparatus protein							4.0	4.0	4.0					16																	70867982		1599	3662	5261	SO:0001583	missense	54768							g.chr16:70867982C>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13487G>C	16.37:g.70867982C>G	ENSP00000377197:p.Arg4496Pro						p.R4496P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			79	13637	-		Ovarian(137;0.0654)	4496					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13487G>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871255	0.51695	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01414	4.92	4.87	4.87	0.63330	.	0.000000	0.33235	U	0.005128	T	0.09862	0.0242	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03249	-1.1056	10	0.45353	T	0.12	.	17.6354	0.88120	0.0:1.0:0.0:0.0	.	4495	F8WD23	.	P	4496;4495	ENSP00000377197:R4496P	ENSP00000313052:R4495P	R	-	2	0	HYDIN	69425483	1.000000	0.71417	0.926000	0.36857	0.177000	0.22998	5.233000	0.65337	2.257000	0.74773	0.511000	0.50034	CGT		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			32	35	0	0	0	1	0	32	35				
LRRC74A	145497	broad.mit.edu	37	14	77294750	77294750	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:77294750C>A	ENST00000393774.3	+	2	329	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M|C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M	NM_194287.2	NP_919263.2												p.L69M(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAAACAGACCTGGAGATTGA	0.532																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			1	Substitution - Missense(1)	p.L69M(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(205-207)Ctg>Atg		chromosome 14 open reading frame 166B							61.0	62.0	61.0					14																	77294750		1903	4109	6012	SO:0001583	missense	145497							g.chr14:77294750C>A																												ENST00000393774.3:c.205C>A	14.37:g.77294750C>A	ENSP00000377369:p.Leu69Met					C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M|C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M|C14orf166B_ENST00000460005.1_3'UTR	p.L69M	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	2	329	+			69						Missense_Mutation	SNP	ENST00000393774.3	37	c.205C>A	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329272	0.60743	.	.	ENSG00000100565	ENST00000393774;ENST00000555189;ENST00000450042;ENST00000216453	T;T	0.46063	0.88;1.76	5.83	5.83	0.93111	.	.	.	.	.	T	0.65270	0.2675	M	0.71581	2.175	0.31924	N	0.613082	D	0.89917	1.0	D	0.75020	0.985	T	0.69416	-0.5151	9	0.56958	D	0.05	.	17.8777	0.88830	0.0:1.0:0.0:0.0	.	69	Q0VAA2	CN16B_HUMAN	M	69;69;52;26	ENSP00000377369:L69M;ENSP00000396260:L52M	ENSP00000216450:L69M	L	+	1	2	C14orf166B	76364503	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	1.484000	0.35508	2.762000	0.94881	0.655000	0.94253	CTG		0.532	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			27	89	1	0	1.7881e-09	1	1.9323e-09	27	89				
CSF3	1440	broad.mit.edu	37	17	38172080	38172080	+	Silent	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:38172080A>G	ENST00000225474.2	+	2	208	c.177A>G	c.(175-177)gcA>gcG	p.A59A	CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000331769.2_Silent_p.A55A|CSF3_ENST00000394148.3_Silent_p.A59A|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394149.3_Silent_p.A59A			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	59					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)	p.A55A(1)		endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				GCGATGGCGCAGCGCTCCAGG	0.642																																						ENST00000331769.2																			1	Substitution - coding silent(1)	p.A55A(1)	prostate(1)	endometrium(1)|ovary(1)|prostate(1)	3						c.(163-165)gcA>gcG		colony stimulating factor 3 (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						35.0	35.0	35.0					17																	38172080		2202	4299	6501	SO:0001819	synonymous_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38172080A>G		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	2438	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.177A>G	17.37:g.38172080A>G						CSF3_ENST00000225474.2_Silent_p.A59A|CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000394149.3_Silent_p.A59A|CSF3_ENST00000394148.3_Silent_p.A59A	p.A55A			P09919	CSF3_HUMAN			1	381	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	59					A8MXR7	Silent	SNP	ENST00000225474.2	37	c.165A>G	CCDS11357.1																																																																																				0.642	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220		5	42	0	0	0	1	0	5	42				
CLCN1	1180	broad.mit.edu	37	7	143043271	143043271	+	Silent	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:143043271C>A	ENST00000343257.2	+	18	2298	c.2211C>A	c.(2209-2211)gcC>gcA	p.A737A		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	737					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.A737A(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTACTACTGCCCCTCTGTCCC	0.597																																						ENST00000343257.2																			1	Substitution - coding silent(1)	p.A737A(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2209-2211)gcC>gcA		chloride channel, voltage-sensitive 1							90.0	87.0	88.0					7																	143043271		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043271C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2211C>A	7.37:g.143043271C>A							p.A737A	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			18	2298	+	Melanoma(164;0.205)		737					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.2211C>A	CCDS5881.1																																																																																				0.597	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		4	156	1	0	2.56e-06	1	2.65922e-06	4	156				
CEP63	80254	broad.mit.edu	37	3	134264447	134264447	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:134264447A>C	ENST00000337090.3	+	7	748	c.575A>C	c.(574-576)aAa>aCa	p.K192T	CEP63_ENST00000383229.3_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T|CEP63_ENST00000354446.3_Missense_Mutation_p.K192T			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	192					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.K192T(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCAATCGGAAACAGAAATTA	0.353																																						ENST00000337090.3																			1	Substitution - Missense(1)	p.K192T(1)	prostate(1)	kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(574-576)aAa>aCa		centrosomal protein 63kDa							81.0	77.0	79.0					3																	134264447		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134264447A>C	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.575A>C	3.37:g.134264447A>C	ENSP00000336524:p.Lys192Thr					CEP63_ENST00000383229.3_Missense_Mutation_p.K192T|CEP63_ENST00000354446.3_Missense_Mutation_p.K192T|CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T	p.K192T			Q96MT8	CEP63_HUMAN			7	748	+			192					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.575A>C	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.45|19.45	3.830751|3.830751	0.71258|0.71258	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612|ENST00000508778	T;T;T;T;T|.	0.37915|.	1.88;1.6;1.85;1.17;1.85|.	6.1|6.1	4.88|4.88	0.63580|0.63580	.|.	0.113557|.	0.64402|.	D|.	0.000010|.	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.73962|0.73962	2.25|2.25	0.40473|0.40473	D|D	0.980367|0.980367	D;P;D;P|.	0.89917|.	1.0;0.811;0.958;0.75|.	D;P;B;B|.	0.87578|.	0.998;0.455;0.425;0.232|.	T|T	0.74559|0.74559	-0.3625|-0.3625	10|5	0.40728|.	T|.	0.16|.	-23.0395|-23.0395	13.1444|13.1444	0.59452|0.59452	0.8669:0.1331:0.0:0.0|0.8669:0.1331:0.0:0.0	.|.	192;192;192;192|.	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3|.	CEP63_HUMAN;.;.;.|.	T|H	192|98	ENSP00000328382:K192T;ENSP00000346432:K192T;ENSP00000336524:K192T;ENSP00000372716:K192T;ENSP00000426129:K192T|.	ENSP00000328382:K192T|.	K|N	+|+	2|1	0|0	CEP63|CEP63	135747137|135747137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.588000|4.588000	0.60999|0.60999	2.340000|2.340000	0.79590|0.79590	0.528000|0.528000	0.53228|0.53228	AAA|AAC		0.353	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		34	119	0	0	0	1	0	34	119				
GPATCH2	55105	broad.mit.edu	37	1	217604605	217604605	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:217604605C>T	ENST00000366935.3	-	10	1579	c.1469G>A	c.(1468-1470)gGc>gAc	p.G490D		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	490	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.G490D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GATCCCCTTGCCATCTCGTCC	0.478																																						ENST00000366935.3																			1	Substitution - Missense(1)	p.G490D(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(1468-1470)gGc>gAc		G patch domain containing 2							130.0	134.0	133.0					1																	217604605		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217604605C>T	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1469G>A	1.37:g.217604605C>T	ENSP00000355902:p.Gly490Asp						p.G490D	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	10	1579	-			490			G-patch.		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1469G>A	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054229	0.93793	.	.	ENSG00000092978	ENST00000366935	T	0.31769	1.48	5.83	5.83	0.93111	D111/G-patch (3);	0.051465	0.85682	D	0.000000	T	0.63438	0.2511	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66995	-0.5782	10	0.72032	D	0.01	-34.0729	20.111	0.97911	0.0:1.0:0.0:0.0	.	490	Q9NW75	GPTC2_HUMAN	D	490	ENSP00000355902:G490D	ENSP00000355902:G490D	G	-	2	0	GPATCH2	215671228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.962000	0.76048	2.747000	0.94245	0.650000	0.86243	GGC		0.478	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		6	377	0	0	0	1	0	6	377				
PRMT5	10419	broad.mit.edu	37	14	23398392	23398392	+	Intron	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:23398392T>A	ENST00000324366.8	-	1	334				PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000553897.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000397441.2_Missense_Mutation_p.I15F|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.I15F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCTCCGGGATGACTAGTCTG	0.627																																						ENST00000397441.2																			1	Substitution - Missense(1)	p.I15F(1)	prostate(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(43-45)Atc>Ttc		protein arginine methyltransferase 5							67.0	74.0	71.0					14																	23398392		2203	4300	6503	SO:0001627	intron_variant	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23398392T>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.110+68A>T	14.37:g.23398392T>A						PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F|PRMT5_ENST00000553897.1_Intron	p.I15F	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	1	218	-	all_cancers(95;2.76e-05)		0					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.43A>T	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	7.209	0.594965	0.13875	.	.	ENSG00000100462	ENST00000397441;ENST00000397440;ENST00000216350	.	.	.	4.84	1.01	0.19927	.	.	.	.	.	T	0.19167	0.0460	N	0.14661	0.345	0.48341	D	0.999634	B;B;B	0.30763	0.038;0.002;0.294	B;B;B	0.21708	0.011;0.001;0.036	T	0.09975	-1.0650	8	0.09843	T	0.71	.	1.5917	0.02656	0.1721:0.0954:0.1792:0.5532	.	15;15;15	B4DX49;A8MTP3;A8MZ91	.;.;.	F	15	.	ENSP00000216350:I15F	I	-	1	0	PRMT5	22468232	0.704000	0.27836	0.204000	0.23530	0.574000	0.36063	0.348000	0.20031	0.014000	0.14944	0.460000	0.39030	ATC		0.627	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			41	91	0	0	0	1	0	41	91				
AQR	9716	broad.mit.edu	37	15	35185966	35185966	+	Silent	SNP	G	G	C	rs564319625	byFrequency	TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185966G>C	ENST00000156471.5	-	23	2694	c.2469C>G	c.(2467-2469)ggC>ggG	p.G823G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	823					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G823G(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACCAGGTGGGCCCACAACCT	0.398																																						ENST00000156471.5																			2	Substitution - coding silent(2)	p.G823G(2)	prostate(1)|endometrium(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2467-2469)ggC>ggG		aquarius intron-binding spliceosomal factor							204.0	201.0	202.0					15																	35185966		1924	4139	6063	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35185966G>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2469C>G	15.37:g.35185966G>C							p.G823G	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	23	2694	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	823					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.2469C>G	CCDS42013.1																																																																																				0.398	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		42	123	0	0	0	1	0	42	123				
MAPK8IP3	23162	broad.mit.edu	37	16	1816093	1816093	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:1816093G>A	ENST00000250894.4	+	21	2733	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R853Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	859					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.R859Q(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGCCGCGGAGCAACTGC	0.662																																						ENST00000250894.4																			1	Substitution - Missense(1)	p.R859Q(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2575-2577)cGg>cAg		mitogen-activated protein kinase 8 interacting protein 3							33.0	44.0	40.0					16																	1816093		2114	4226	6340	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1816093G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2576G>A	16.37:g.1816093G>A	ENSP00000250894:p.Arg859Gln					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R853Q	p.R859Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			21	2733	+			859					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2576G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246218	0.22796	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.29917	1.55;1.55	4.99	3.04	0.35103	.	0.114453	0.64402	D	0.000009	T	0.35595	0.0937	L	0.60455	1.87	0.58432	D	0.999993	P;P;P	0.52463	0.569;0.953;0.853	B;P;P	0.50352	0.129;0.638;0.447	T	0.05818	-1.0862	10	0.23302	T	0.38	-14.7528	10.4188	0.44338	0.1604:0.0:0.8396:0.0	.	860;853;859	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Q	859;853	ENSP00000250894:R859Q;ENSP00000348290:R853Q	ENSP00000250894:R859Q	R	+	2	0	MAPK8IP3	1756094	1.000000	0.71417	0.113000	0.21522	0.079000	0.17450	5.146000	0.64845	0.528000	0.28580	0.561000	0.74099	CGG		0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		6	55	0	0	0	1	0	6	55				
IGDCC3	9543	broad.mit.edu	37	15	65623027	65623027	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65623027C>G	ENST00000327987.4	-	10	1865	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	538	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.Q538H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCACAGCAGCTGCAAGGAGG	0.657																																						ENST00000327987.4																			1	Substitution - Missense(1)	p.Q538H(1)	prostate(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1612-1614)caG>caC		immunoglobulin superfamily, DCC subclass, member 3							27.0	32.0	31.0					15																	65623027		2200	4299	6499	SO:0001583	missense	9543							g.chr15:65623027C>G	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1614G>C	15.37:g.65623027C>G	ENSP00000332773:p.Gln538His						p.Q538H	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			10	1865	-			538			Fibronectin type-III 2.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1614G>C	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596125	0.66332	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.57595	0.39	5.38	4.45	0.53987	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.64567	1.98	0.45718	D	0.998629	D	0.89917	1.0	D	0.81914	0.995	T	0.65998	-0.6032	10	0.45353	T	0.12	-31.0763	10.4772	0.44672	0.0:0.8427:0.0:0.1573	.	538	Q8IVU1	IGDC3_HUMAN	H	538;401	ENSP00000332773:Q538H	ENSP00000332773:Q538H	Q	-	3	2	IGDCC3	63410080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.206000	0.32321	1.235000	0.43724	0.655000	0.94253	CAG		0.657	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		9	22	0	0	0	1	0	9	22				
SPAG6	9576	broad.mit.edu	37	10	22690118	22690118	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:22690118A>G	ENST00000376624.3	+	9	1368	c.1226A>G	c.(1225-1227)cAa>cGa	p.Q409R	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376603.2_Missense_Mutation_p.Q485R	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	409					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.Q409R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AATATCCTGCAAAAATGTACC	0.348																																						ENST00000376603.2																			1	Substitution - Missense(1)	p.Q409R(1)	prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(1453-1455)cAa>cGa		sperm associated antigen 6							104.0	101.0	102.0					10																	22690118		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22690118A>G	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1226A>G	10.37:g.22690118A>G	ENSP00000365811:p.Gln409Arg					RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R|SPAG6_ENST00000376624.3_Missense_Mutation_p.Q409R|SPAG6_ENST00000490361.1_3'UTR	p.Q485R			O75602	SPAG6_HUMAN			9	1596	+			409					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1454A>G	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602692	0.46423	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	T;T;T;T;T;T	0.65364	-0.15;-0.15;0.79;-0.15;0.79;-0.15	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.79343	2.45	0.58432	D	0.999994	B;B;B;B	0.19445	0.003;0.036;0.02;0.006	B;B;B;B	0.23150	0.008;0.029;0.044;0.02	T	0.66795	-0.5833	10	0.72032	D	0.01	-17.5752	15.1163	0.72404	1.0:0.0:0.0:0.0	.	384;485;409;409	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	R	409;485;170;384;170;409	ENSP00000365811:Q409R;ENSP00000365788:Q485R;ENSP00000365786:Q170R;ENSP00000441325:Q384R;ENSP00000411111:Q170R;ENSP00000323599:Q409R	ENSP00000323599:Q409R	Q	+	2	0	SPAG6	22730124	1.000000	0.71417	0.954000	0.39281	0.631000	0.37964	5.831000	0.69330	1.978000	0.57642	0.528000	0.53228	CAA		0.348	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			11	124	0	0	0	1	0	11	124				
VWA9	81556	broad.mit.edu	37	15	65890710	65890710	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65890710G>C	ENST00000395644.4	-	6	1032	c.697C>G	c.(697-699)Cct>Gct	p.P233A	VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A|VWA9_ENST00000431261.2_Missense_Mutation_p.P154A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	233								p.P233A(1)									ACAACAAAAGGTTCTGGCCTG	0.363																																						ENST00000395644.4																			1	Substitution - Missense(1)	p.P233A(1)	prostate(1)								c.(697-699)Cct>Gct		von Willebrand factor A domain containing 9							99.0	98.0	98.0					15																	65890710		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65890710G>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.697C>G	15.37:g.65890710G>C	ENSP00000379006:p.Pro233Ala					VWA9_ENST00000431261.2_Missense_Mutation_p.P154A|VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A|VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A	p.P233A							6	1032	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.697C>G		.	.	.	.	.	.	.	.	.	.	G	20.4	3.978390	0.74360	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	L	0.51422	1.61	0.80722	D	1	P;B;B;B	0.41450	0.75;0.073;0.104;0.104	B;B;B;B	0.40009	0.316;0.022;0.035;0.022	T	0.56366	-0.7991	9	0.40728	T	0.16	-9.3849	20.1931	0.98233	0.0:0.0:1.0:0.0	.	184;197;269;233	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	A	233;233;154;176;197	.	ENSP00000326379:P233A	P	-	1	0	C15orf44	63677763	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.782000	0.85680	2.771000	0.95319	0.563000	0.77884	CCT		0.363	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		47	100	0	0	0	1	0	47	100				
ZNF518A	9849	broad.mit.edu	37	10	97918959	97918959	+	RNA	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:97918959G>C	ENST00000534948.1	+	0	3737							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L960F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CACTTCCATTGGTTAATTCAC	0.363																																						ENST00000534948.1																			2	Substitution - Missense(2)	p.L960F(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							91.0	91.0	91.0					10																	97918959		1816	4068	5884			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97918959G>C	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918959G>C										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	3737	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.363	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		55	262	0	0	0	1	0	55	262				
RBM10	8241	broad.mit.edu	37	X	47039694	47039694	+	Silent	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chrX:47039694C>G	ENST00000377604.3	+	11	1888	c.1146C>G	c.(1144-1146)gcC>gcG	p.A382A	RBM10_ENST00000329236.7_Silent_p.A304A|RBM10_ENST00000345781.6_Silent_p.A305A|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	382	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.A382A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TTGAGTTTGCCAAGGGTTCTA	0.632																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			1	Substitution - coding silent(1)	p.A382A(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(1144-1146)gcC>gcG		RNA binding motif protein 10							56.0	41.0	47.0					X																	47039694		2202	4297	6499	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039694C>G	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1146C>G	X.37:g.47039694C>G						RBM10_ENST00000345781.6_Silent_p.A305A|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Silent_p.A304A	p.A382A	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			11	1888	+			382			RRM 2.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.1146C>G	CCDS14274.1																																																																																				0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		17	9	0	0	0	1	0	17	9				
PLCH2	9651	broad.mit.edu	37	1	2419086	2419086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:2419086C>A	ENST00000419816.2	+	8	1438	c.1164C>A	c.(1162-1164)taC>taA	p.Y388*	PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000449969.1_Nonsense_Mutation_p.Y361*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	388	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.Y388*(1)|p.Y235*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCATGGCTACACTCTGACTT	0.592																																						ENST00000449969.1																			2	Substitution - Nonsense(2)	p.Y388*(1)|p.Y235*(1)	prostate(2)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(1081-1083)taC>taA		phospholipase C, eta 2							45.0	50.0	48.0					1																	2419086		2047	4192	6239	SO:0001587	stop_gained	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2419086C>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1164C>A	1.37:g.2419086C>A	ENSP00000389803:p.Tyr388*					PLCH2_ENST00000419816.2_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron	p.Y361*			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	8	1244	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	388			PI-PLC X-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Nonsense_Mutation	SNP	ENST00000419816.2	37	c.1083C>A		.	.	.	.	.	.	.	.	.	.	C	45	11.356288	0.99551	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	.	.	.	4.77	0.0768	0.14405	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3291	0.38010	0.0:0.5606:0.0:0.4394	.	.	.	.	X	361;388;388;235;176	.	ENSP00000278878:Y176X	Y	+	3	2	PLCH2	2408946	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	2.463000	0.45058	0.106000	0.17784	0.561000	0.74099	TAC		0.592	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		5	64	1	0	1.024e-07	1	1.08902e-07	5	64				
DST	667	broad.mit.edu	37	6	56341001	56341001	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:56341001T>C	ENST00000361203.3	-	87	20857	c.20850A>G	c.(20848-20850)aaA>aaG	p.K6950K	DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000370754.5_Silent_p.K7239K|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.K4973K			Q03001	DYST_HUMAN	dystonin	6948					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.K4647K(1)|p.K7061K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATGACTTCTTTATCCTTAT	0.423																																						ENST00000370754.5																			2	Substitution - coding silent(2)	p.K4647K(1)|p.K7061K(1)	prostate(2)	NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(21715-21717)aaA>aaG		dystonin							86.0	82.0	83.0					6																	56341001		1909	4121	6030	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56341001T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20850A>G	6.37:g.56341001T>C						DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Silent_p.K6950K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000421834.2_Silent_p.K4973K	p.K7239K			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		92	21716	-	Lung NSC(77;0.103)		7059			EF-hand 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.21717A>G																																																																																					0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	43	0	0	0	1	0	7	43				
VPS13D	55187	broad.mit.edu	37	1	12337950	12337950	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:12337950T>G	ENST00000358136.3	+	19	4435	c.4305T>G	c.(4303-4305)aaT>aaG	p.N1435K	VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.N1435K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTCTTTGAATTGCACCCAGT	0.498																																						ENST00000358136.3																			1	Substitution - Missense(1)	p.N1435K(1)	prostate(1)	NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(4303-4305)aaT>aaG		vacuolar protein sorting 13 homolog D (S. cerevisiae)							129.0	127.0	128.0					1																	12337950		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12337950T>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4305T>G	1.37:g.12337950T>G	ENSP00000350854:p.Asn1435Lys					VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K	p.N1435K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	4435	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1435						Missense_Mutation	SNP	ENST00000358136.3	37	c.4305T>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.22|16.22	3.061030|3.061030	0.55432|0.55432	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53857	.|0.6;0.62	6.16|6.16	-5.33|-5.33	0.02713|0.02713	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31857|0.31857	0.0810|0.0810	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22276	.|0.012;0.067	.|B;B	.|0.17098	.|0.017;0.017	T|T	0.08554|0.08554	-1.0716|-1.0716	5|10	.|0.17369	.|T	.|0.5	.|.	11.4777|11.4777	0.50308|0.50308	0.1032:0.5876:0.0:0.3092|0.1032:0.5876:0.0:0.3092	.|.	.|1435;1435	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	S|K	258|1435	.|ENSP00000348666:N1435K;ENSP00000350854:N1435K	.|ENSP00000348666:N1435K	I|N	+|+	2|3	0|2	VPS13D|VPS13D	12260537|12260537	0.926000|0.926000	0.31397|0.31397	0.714000|0.714000	0.30535|0.30535	0.654000|0.654000	0.38779|0.38779	0.031000|0.031000	0.13710|0.13710	-0.899000|-0.899000	0.03901|0.03901	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		88	179	0	0	0	1	0	88	179				
CUX2	23316	broad.mit.edu	37	12	111785947	111785947	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:111785947G>A	ENST00000261726.6	+	22	4433	c.4279G>A	c.(4279-4281)Gcc>Acc	p.A1427T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1427	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A1427T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCACCTGGCGCCCCCCCTGC	0.657																																						ENST00000261726.6																			1	Substitution - Missense(1)	p.A1427T(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4279-4281)Gcc>Acc		cut-like homeobox 2							44.0	53.0	50.0					12																	111785947		2032	4169	6201	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785947G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4279G>A	12.37:g.111785947G>A	ENSP00000261726:p.Ala1427Thr						p.A1427T	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4433	+			1427			Pro-rich.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4279G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	7.576	0.667832	0.14710	.	.	ENSG00000111249	ENST00000261726	T	0.46063	0.88	5.43	2.42	0.29668	.	0.372096	0.30193	N	0.010189	T	0.22820	0.0551	N	0.13043	0.29	0.27504	N	0.951905	B	0.09022	0.002	B	0.04013	0.001	T	0.14755	-1.0461	10	0.27785	T	0.31	-5.0495	8.6338	0.33935	0.3261:0.0:0.6739:0.0	.	1427	O14529	CUX2_HUMAN	T	1427	ENSP00000261726:A1427T	ENSP00000261726:A1427T	A	+	1	0	CUX2	110270330	0.000000	0.05858	0.461000	0.27105	0.986000	0.74619	0.099000	0.15210	0.195000	0.20347	0.655000	0.94253	GCC		0.657	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	121	0	0	0	1	0	12	121				
EDN2	1907	broad.mit.edu	37	1	41948239	41948239	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:41948239A>T	ENST00000372587.4	-	3	311	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	81					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)	p.L81Q(1)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGGTTTCCCAGGCCGTAAGG	0.617																																						ENST00000372587.4																			1	Substitution - Missense(1)	p.L81Q(1)	prostate(1)	endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(241-243)cTg>cAg		endothelin 2							22.0	30.0	27.0					1																	41948239		2193	4283	6476	SO:0001583	missense	1907				artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	g.chr1:41948239A>T	M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.242T>A	1.37:g.41948239A>T	ENSP00000361668:p.Leu81Gln					EDN2_ENST00000490783.1_5'UTR	p.L81Q	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN			3	311	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	81					Q5T1R3	Missense_Mutation	SNP	ENST00000372587.4	37	c.242T>A	CCDS462.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423647	0.83559	.	.	ENSG00000127129	ENST00000372587	D	0.92199	-2.99	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	D	0.96131	0.8739	M	0.86953	2.85	0.48632	D	0.999683	D	0.89917	1.0	D	0.80764	0.994	D	0.96607	0.9449	10	0.87932	D	0	-11.8953	12.7118	0.57094	1.0:0.0:0.0:0.0	.	81	P20800	EDN2_HUMAN	Q	81	ENSP00000361668:L81Q	ENSP00000361668:L81Q	L	-	2	0	EDN2	41720826	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.433000	0.73404	2.214000	0.71695	0.533000	0.62120	CTG		0.617	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1	NM_001956		7	20	0	0	0	1	0	7	20				
PCNX	22990	broad.mit.edu	37	14	71514563	71514563	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:71514563G>A	ENST00000304743.2	+	22	4646	c.4200G>A	c.(4198-4200)ttG>ttA	p.L1400L	PCNX_ENST00000439984.3_Silent_p.L1289L|PCNX_ENST00000238570.5_Silent_p.L1400L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1400						integral component of membrane (GO:0016021)		p.L1400L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTGAAGTTGCTACGATCCT	0.373																																						ENST00000304743.2																			1	Substitution - coding silent(1)	p.L1400L(1)	prostate(1)	NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4198-4200)ttG>ttA		pecanex homolog (Drosophila)							234.0	199.0	211.0					14																	71514563		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71514563G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4200G>A	14.37:g.71514563G>A						PCNX_ENST00000439984.3_Silent_p.L1289L|PCNX_ENST00000238570.5_Silent_p.L1400L	p.L1400L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	22	4646	+			1400					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.4200G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	8.138	0.784534	0.16189	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.32	4.41	0.53225	.	.	.	.	.	T	0.56702	0.2003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53373	-0.8448	4	.	.	.	.	6.8466	0.23992	0.139:0.1659:0.6951:0.0	.	.	.	.	Y	459	.	.	C	+	2	0	PCNX	70584316	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	2.303000	0.43646	2.640000	0.89533	0.591000	0.81541	TGC		0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		46	233	0	0	0	1	0	46	233				
F13B	2165	broad.mit.edu	37	1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:197030932T>C	ENST00000367412.1	-	3	476	c.433A>G	c.(433-435)Acc>Gcc	p.T145A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	145	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.T145A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCTACAGGTTGGTTGAGAA	0.373																																						ENST00000367412.1																			2	Substitution - Missense(2)	p.T145A(2)	prostate(1)|skin(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(433-435)Acc>Gcc		coagulation factor XIII, B polypeptide							129.0	111.0	117.0					1																	197030932		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030932T>C	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.433A>G	1.37:g.197030932T>C	ENSP00000356382:p.Thr145Ala						p.T145A	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			3	476	-			145			Sushi 2.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.433A>G	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.462181	0.26248	.	.	ENSG00000143278	ENST00000367412	T	0.65916	-0.18	5.85	-9.51	0.00581	Complement control module (2);Sushi/SCR/CCP (3);	0.833937	0.09797	N	0.754625	T	0.45776	0.1359	L	0.54908	1.71	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.15578	-1.0432	10	0.30078	T	0.28	.	6.9834	0.24715	0.1635:0.5554:0.0932:0.1879	.	145	P05160	F13B_HUMAN	A	145	ENSP00000356382:T145A	ENSP00000356382:T145A	T	-	1	0	F13B	195297555	0.000000	0.05858	0.075000	0.20258	0.887000	0.51463	-0.915000	0.04033	-2.131000	0.00815	-0.408000	0.06270	ACC		0.373	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		36	79	0	0	0	1	0	36	79				
NLRP3	114548	broad.mit.edu	37	1	247587856	247587856	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:247587856C>A	ENST00000336119.3	+	3	1857	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	371	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L371M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGGAGATCCTGGGTTTCTC	0.547																																						ENST00000366497.2																			1	Substitution - Missense(1)	p.L371M(1)	prostate(1)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1111-1113)Ctg>Atg		NLR family, pyrin domain containing 3							61.0	62.0	62.0					1																	247587856		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587856C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1111C>A	1.37:g.247587856C>A	ENSP00000337383:p.Leu371Met					NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M|NLRP3_ENST00000336119.3_Missense_Mutation_p.L371M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000474792.1_3'UTR	p.L371M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1891	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	371			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1111C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267702	0.40095	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	3.84	1.92	0.25849	NACHT nucleoside triphosphatase (1);	0.186157	0.26535	N	0.023835	D	0.83298	0.5224	L	0.54323	1.7	0.28452	N	0.916304	D;D;D;D;D	0.89917	1.0;0.994;1.0;0.999;0.998	D;D;D;D;D	0.91635	0.995;0.945;0.999;0.988;0.996	T	0.73183	-0.4063	10	0.48119	T	0.1	.	5.1247	0.14878	0.0:0.6704:0.2138:0.1158	.	371;371;371;371;371	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	371	ENSP00000375704:L371M;ENSP00000355453:L371M;ENSP00000337383:L371M;ENSP00000294752:L371M;ENSP00000355452:L371M;ENSP00000375703:L371M	ENSP00000337383:L371M	L	+	1	2	NLRP3	245654479	0.023000	0.18921	1.000000	0.80357	0.721000	0.41392	0.243000	0.18106	0.570000	0.29347	0.563000	0.77884	CTG		0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		58	129	1	0	1.4709e-25	1	1.65631e-25	58	129				
SNRNP200	23020	broad.mit.edu	37	2	96970455	96970455	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:96970455T>G	ENST00000323853.5	-	2	274	c.197A>C	c.(196-198)gAa>gCa	p.E66A	AC021188.4_ENST00000421534.1_RNA|SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	66					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E66A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCTCTTCTTTCCTCCTGCAT	0.517																																						ENST00000323853.5																			1	Substitution - Missense(1)	p.E66A(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(196-198)gAa>gCa		small nuclear ribonucleoprotein 200kDa (U5)							133.0	118.0	123.0					2																	96970455		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96970455T>G	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.197A>C	2.37:g.96970455T>G	ENSP00000317123:p.Glu66Ala					SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A	p.E66A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			2	274	-			66					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.197A>C	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398002	0.62177	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.42900	0.96;0.96	5.64	5.64	0.86602	.	0.050799	0.85682	D	0.000000	T	0.40094	0.1103	L	0.51853	1.615	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18587	-1.0332	10	0.48119	T	0.1	-11.2314	14.8359	0.70183	0.0:0.0:0.0:1.0	.	66	O75643	U520_HUMAN	A	66	ENSP00000317123:E66A;ENSP00000326937:E66A	ENSP00000317123:E66A	E	-	2	0	SNRNP200	96334182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.568000	0.82369	2.147000	0.66899	0.460000	0.39030	GAA		0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		41	105	0	0	0	1	0	41	105				
SCN11A	11280	broad.mit.edu	37	3	38946767	38946767	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38946767G>T	ENST00000302328.3	-	11	1717	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M|SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	507					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L507M(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGTGGTCCAGTGATAGATTC	0.512																																						ENST00000302328.3																			1	Substitution - Missense(1)	p.L507M(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1519-1521)Ctg>Atg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						254.0	228.0	237.0					3																	38946767		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38946767G>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1519C>A	3.37:g.38946767G>T	ENSP00000307599:p.Leu507Met					SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M|SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M	p.L507M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	11	1717	-			507					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1519C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	1.166	-0.642321	0.03531	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96073	-3.9;-3.9;-3.85;-3.76	5.08	-3.09	0.05331	.	1004.730000	0.00357	N	0.000023	D	0.84115	0.5401	N	0.03224	-0.385	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.82938	-0.0209	10	0.06099	T	0.92	.	3.5906	0.07987	0.0937:0.2735:0.3873:0.2456	.	507	Q9UI33	SCNBA_HUMAN	M	507	ENSP00000307599:L507M;ENSP00000400945:L507M;ENSP00000416757:L507M;ENSP00000408028:L507M	ENSP00000307599:L507M	L	-	1	2	SCN11A	38921771	0.000000	0.05858	0.044000	0.18714	0.826000	0.46750	-0.778000	0.04664	-0.329000	0.08527	-1.119000	0.02030	CTG		0.512	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		85	190	1	0	4.64247e-43	1	5.60442e-43	85	190				
FAM90A1	55138	broad.mit.edu	37	12	8374854	8374854	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:8374854A>G	ENST00000538603.1	-	7	1517	c.959T>C	c.(958-960)aTc>aCc	p.I320T	FAM90A1_ENST00000307435.6_Missense_Mutation_p.I320T	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	320							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I320T(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACCTCCCTGGATGGCGCTTTC	0.642																																						ENST00000538603.1																			1	Substitution - Missense(1)	p.I320T(1)	prostate(1)	endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(958-960)aTc>aCc		family with sequence similarity 90, member A1							12.0	14.0	13.0					12																	8374854		2037	4070	6107	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8374854A>G	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.959T>C	12.37:g.8374854A>G	ENSP00000445418:p.Ile320Thr					FAM90A1_ENST00000307435.6_Missense_Mutation_p.I320T	p.I320T	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1517	-			320					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.959T>C	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.867541	0.00063	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.11385	2.78;2.78	1.02	-2.04	0.07343	.	.	.	.	.	T	0.03871	0.0109	N	0.10809	0.05	0.09310	N	1	B	0.25169	0.119	B	0.28991	0.097	T	0.38067	-0.9678	9	0.02654	T	1	5.0E-4	3.0048	0.06025	0.3897:0.3773:0.233:0.0	.	320	Q86YD7	F90A1_HUMAN	T	320	ENSP00000307798:I320T;ENSP00000445418:I320T	ENSP00000307798:I320T	I	-	2	0	FAM90A1	8266121	0.016000	0.18221	0.000000	0.03702	0.006000	0.05464	0.296000	0.19083	-2.088000	0.00861	-1.285000	0.01374	ATC		0.642	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		4	47	0	0	0	1	0	4	47				
FSTL5	56884	broad.mit.edu	37	4	162577600	162577600	+	Silent	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:162577600A>G	ENST00000306100.5	-	7	1210	c.774T>C	c.(772-774)acT>acC	p.T258T	FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000536695.1_Silent_p.T257T|FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	258	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T258T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGTTGCTGCAGTGATGCTTA	0.398																																						ENST00000306100.5																			1	Substitution - coding silent(1)	p.T258T(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(772-774)acT>acC		follistatin-like 5							100.0	92.0	95.0					4																	162577600		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162577600A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.774T>C	4.37:g.162577600A>G						FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Silent_p.T257T	p.T258T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1210	-	all_hematologic(180;0.24)		258			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.774T>C	CCDS3802.1																																																																																				0.398	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		18	88	0	0	0	1	0	18	88				
MASP1	5648	broad.mit.edu	37	3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:186971086T>G	ENST00000337774.5	-	6	1151	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	254	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.K254N(2)|p.K254K(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAAAACTTTTGGACCAA	0.498																																						ENST00000337774.5																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.K254N(2)|p.K254K(2)	large_intestine(2)|prostate(2)	NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(760-762)aaA>aaC		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							139.0	156.0	150.0					3																	186971086		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186971086T>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.762A>C	3.37:g.186971086T>G	ENSP00000336792:p.Lys254Asn					MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000495249.1_Intron	p.K254N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	6	1151	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		254			CUB 2.|Interaction with FCN2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.762A>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177640	0.38413	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.63	-7.61	0.01299	CUB (5);	0.412203	0.29537	N	0.011880	T	0.12860	0.0312	N	0.26092	0.79	0.09310	N	0.999999	B;B;B;B;B	0.18166	0.002;0.002;0.0;0.001;0.026	B;B;B;B;B	0.17433	0.003;0.007;0.004;0.004;0.018	T	0.05920	-1.0856	10	0.59425	D	0.04	.	2.6917	0.05122	0.4128:0.0662:0.2909:0.2301	.	228;254;141;254;254	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	N	254;254;141;141;254;228	ENSP00000336792:K254N;ENSP00000296280:K254N;ENSP00000376264:K141N;ENSP00000169293:K254N;ENSP00000376262:K228N	ENSP00000169293:K254N	K	-	3	2	MASP1	188453780	0.010000	0.17322	0.000000	0.03702	0.191000	0.23601	0.567000	0.23608	-0.934000	0.03733	-0.313000	0.08912	AAA		0.498	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		159	436	0	0	0	1	0	159	436				
SPEG	10290	broad.mit.edu	37	2	220348803	220348803	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:220348803C>T	ENST00000312358.7	+	30	6750	c.6618C>T	c.(6616-6618)ccC>ccT	p.P2206P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2206	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P2206P(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCAGCCCCCCGCACCCCAGC	0.677																																						ENST00000312358.7																			2	Substitution - coding silent(2)	p.P2206P(2)	prostate(2)	breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(6616-6618)ccC>ccT		SPEG complex locus							30.0	41.0	37.0					2																	220348803		2023	4159	6182	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220348803C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6618C>T	2.37:g.220348803C>T						SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.P2206P	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	6750	+		Renal(207;0.0183)	2206			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.6618C>T	CCDS42824.1																																																																																				0.677	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		32	44	0	0	0	1	0	32	44				
PGBD1	84547	broad.mit.edu	37	6	28269738	28269738	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:28269738G>C	ENST00000405948.2	+	7	2527	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R	PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	703						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G703R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAATGCTGTGGGCATAGAACC	0.398																																						ENST00000405948.2																			1	Substitution - Missense(1)	p.G703R(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2107-2109)Ggc>Cgc		piggyBac transposable element derived 1							176.0	170.0	172.0					6																	28269738		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269738G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2107G>C	6.37:g.28269738G>C	ENSP00000385213:p.Gly703Arg					PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R	p.G703R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2527	+			703					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.2107G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159802	0.57368	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.16743	2.32;2.32	4.1	4.1	0.47936	.	0.282673	0.22302	N	0.061846	T	0.26304	0.0642	M	0.64997	1.995	0.32055	N	0.596426	D	0.76494	0.999	D	0.83275	0.996	T	0.01532	-1.1331	10	0.59425	D	0.04	-16.1538	12.0452	0.53475	0.0:0.0:1.0:0.0	.	703	Q96JS3	PGBD1_HUMAN	R	703	ENSP00000385213:G703R;ENSP00000259883:G703R	ENSP00000259883:G703R	G	+	1	0	PGBD1	28377717	0.998000	0.40836	0.994000	0.49952	0.929000	0.56500	3.053000	0.49901	2.286000	0.76751	0.591000	0.81541	GGC		0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			24	251	0	0	0	1	0	24	251				
OR2AE1	81392	broad.mit.edu	37	7	99474214	99474214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:99474214G>T	ENST00000316368.2	-	1	466	c.443C>A	c.(442-444)tCa>tAa	p.S148*		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S148*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCCAACCATGACATGACAGC	0.502																																						ENST00000316368.2																			1	Substitution - Nonsense(1)	p.S148*(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(442-444)tCa>tAa		olfactory receptor, family 2, subfamily AE, member 1							146.0	136.0	139.0					7																	99474214		2203	4300	6503	SO:0001587	stop_gained	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474214G>T	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.443C>A	7.37:g.99474214G>T	ENSP00000313936:p.Ser148*						p.S148*	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	466	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		148					B2RPD2	Nonsense_Mutation	SNP	ENST00000316368.2	37	c.443C>A	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394837	0.25205	.	.	ENSG00000244623	ENST00000316368	.	.	.	3.49	3.49	0.39957	.	0.254751	0.20794	N	0.085575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2965	0.60301	0.0:0.0:1.0:0.0	.	.	.	.	X	148	.	ENSP00000313936:S148X	S	-	2	0	OR2AE1	99312150	0.112000	0.22096	0.019000	0.16419	0.079000	0.17450	1.926000	0.40084	2.252000	0.74401	0.390000	0.25778	TCA		0.502	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			54	122	1	0	4.1673e-28	1	4.77281e-28	54	122				
BSCL2	26580	broad.mit.edu	37	11	62462097	62462097	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:62462097C>G	ENST00000403550.1	-	4	804	c.381G>C	c.(379-381)ttG>ttC	p.L127F	BSCL2_ENST00000433053.1_Missense_Mutation_p.L191F|BSCL2_ENST00000278893.7_Missense_Mutation_p.L127F|BSCL2_ENST00000407022.3_Missense_Mutation_p.L127F|BSCL2_ENST00000421906.1_Missense_Mutation_p.L127F|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.L191F|BSCL2_ENST00000360796.5_Missense_Mutation_p.L191F|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	127					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.L127F(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAATGGTGACCAAGAACATGC	0.522											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433053.1																			1	Substitution - Missense(1)	p.L127F(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(571-573)ttG>ttC		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							146.0	114.0	124.0					11																	62462097		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62462097C>G		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.381G>C	11.37:g.62462097C>G	ENSP00000385561:p.Leu127Phe		OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1061	BSCL2_ENST00000421906.1_Missense_Mutation_p.L127F|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.L191F|BSCL2_ENST00000407022.3_Missense_Mutation_p.L127F|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.L127F|BSCL2_ENST00000278893.7_Missense_Mutation_p.L127F|BSCL2_ENST00000405837.1_Missense_Mutation_p.L191F	p.L191F			Q96G97	BSCL2_HUMAN			5	1129	-			127					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.573G>C	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818331	0.50633	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000531524;ENST00000524862	D;D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.3	0.897	0.19258	.	0.060873	0.64402	U	0.000013	T	0.77545	0.4146	N	0.19112	0.55	0.37500	D	0.916715	B;B;P;B	0.34934	0.153;0.284;0.476;0.148	B;B;B;B	0.35413	0.074;0.2;0.202;0.109	T	0.72110	-0.4389	10	0.72032	D	0.01	-28.4365	5.4357	0.16480	0.0:0.5817:0.1457:0.2726	.	127;127;191;127	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	F	191;191;127;191;127;127;127;127;58;191	ENSP00000385332:L191F;ENSP00000414002:L191F;ENSP00000278893:L127F;ENSP00000354032:L191F;ENSP00000385561:L127F;ENSP00000384080:L127F;ENSP00000413209:L127F;ENSP00000413340:L127F;ENSP00000436026:L58F;ENSP00000433888:L191F	ENSP00000278893:L127F	L	-	3	2	BSCL2	62218673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.396000	0.44468	0.188000	0.20168	0.563000	0.77884	TTG		0.522	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		23	67	0	0	0	1	0	23	67				
SERPINE1	5054	broad.mit.edu	37	7	100775170	100775170	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775170T>C	ENST00000223095.4	+	4	677	c.520T>C	c.(520-522)Ttg>Ctg	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GATCAGCAACTTGCTTGGGAA	0.493																																						ENST00000223095.4																			1	Substitution - coding silent(1)	p.L174L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(520-522)Ttg>Ctg		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						128.0	129.0	129.0					7																	100775170		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100775170T>C	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.520T>C	7.37:g.100775170T>C						SERPINE1_ENST00000445463.2_Silent_p.L159L	p.L174L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			4	677	+	Lung NSC(181;0.136)|all_lung(186;0.182)		174					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.520T>C	CCDS5711.1																																																																																				0.493	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		20	317	0	0	0	1	0	20	317				
ZNF536	9745	broad.mit.edu	37	19	30935327	30935327	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:30935327C>T	ENST00000355537.3	+	2	1005	c.858C>T	c.(856-858)cgC>cgT	p.R286R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	286					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R286R(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAAGAAGCGCGAGGAGCTGG	0.662																																						ENST00000355537.3																			2	Substitution - coding silent(2)	p.R286R(2)	prostate(1)|endometrium(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(856-858)cgC>cgT		zinc finger protein 536							32.0	37.0	35.0					19																	30935327		2202	4300	6502	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935327C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.858C>T	19.37:g.30935327C>T							p.R286R	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1005	+	Esophageal squamous(110;0.0834)		286					A2RU18	Silent	SNP	ENST00000355537.3	37	c.858C>T	CCDS32984.1																																																																																				0.662	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		34	75	0	0	0	1	0	34	75				
FSCB	84075	broad.mit.edu	37	14	44976183	44976183	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:44976183C>A	ENST00000340446.4	-	1	299	c.8G>T	c.(7-9)gGc>gTc	p.G3V	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	3						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.G3V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGGGATTTGCCTACCATTGG	0.413																																						ENST00000340446.4																			1	Substitution - Missense(1)	p.G3V(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(7-9)gGc>gTc		fibrous sheath CABYR binding protein							245.0	231.0	236.0					14																	44976183		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44976183C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.8G>T	14.37:g.44976183C>A	ENSP00000344579:p.Gly3Val						p.G3V	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	299	-			3					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.8G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500704	0.26861	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12879	2.64	5.4	4.25	0.50352	.	.	.	.	.	T	0.07458	0.0188	N	0.08118	0	0.35682	D	0.814117	B	0.10296	0.003	B	0.04013	0.001	T	0.11397	-1.0589	9	0.72032	D	0.01	-11.7569	8.5476	0.33430	0.0:0.0886:0.0:0.9114	.	3	Q5H9T9	FSCB_HUMAN	V	3	ENSP00000344579:G3V	ENSP00000344579:G3V	G	-	2	0	FSCB	44045933	1.000000	0.71417	0.996000	0.52242	0.611000	0.37282	2.244000	0.43124	0.993000	0.38866	-0.417000	0.06048	GGC		0.413	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		105	274	1	0	4.98428e-49	1	6.07176e-49	105	274				
FANCM	57697	broad.mit.edu	37	14	45639925	45639925	+	Silent	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:45639925T>G	ENST00000267430.5	+	12	2221	c.2136T>G	c.(2134-2136)tcT>tcG	p.S712S	FANCM_ENST00000542564.2_Silent_p.S686S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	712					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.S712S(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGTTTTCTTCTTTACAAAATG	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			1	Substitution - coding silent(1)	p.S712S(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2134-2136)tcT>tcG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							66.0	73.0	71.0					14																	45639925		2201	4295	6496	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45639925T>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2136T>G	14.37:g.45639925T>G						FANCM_ENST00000542564.2_Silent_p.S686S	p.S712S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			12	2221	+			712					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.2136T>G	CCDS32070.1																																																																																				0.323	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		62	122	0	0	0	1	0	62	122				
NUP54	53371	broad.mit.edu	37	4	77036593	77036593	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:77036593C>A	ENST00000264883.3	-	12	1590	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y|NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	484					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.D484Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTTCTAGATCGTCTTTAATG	0.333																																						ENST00000264883.3																			1	Substitution - Missense(1)	p.D484Y(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(1450-1452)Gat>Tat		nucleoporin 54kDa							151.0	139.0	143.0					4																	77036593		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77036593C>A	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1450G>T	4.37:g.77036593C>A	ENSP00000264883:p.Asp484Tyr					NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y|NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y	p.D484Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			12	1590	-			484					B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.1450G>T	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207673	0.79240	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.043908	0.85682	D	0.000000	T	0.76593	0.4009	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74348	0.95;0.983;0.945	T	0.77797	-0.2453	9	0.87932	D	0	-17.1458	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	436;268;484	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	Y	484;268;436;304	.	ENSP00000264883:D484Y	D	-	1	0	NUP54	77255617	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.729000	0.68538	2.873000	0.98535	0.561000	0.74099	GAT		0.333	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			44	92	1	0	2.58029e-29	1	3.00659e-29	44	92				
IGSF10	285313	broad.mit.edu	37	3	151161667	151161667	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:151161667C>G	ENST00000282466.3	-	5	5067	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1690	Ig-like C2-type 3.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.D1690H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAGATAAATCAAGTCCTGAG	0.398																																						ENST00000282466.3																			1	Substitution - Missense(1)	p.D1690H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(5068-5070)Gat>Cat		immunoglobulin superfamily, member 10							34.0	33.0	33.0					3																	151161667		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161667C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5068G>C	3.37:g.151161667C>G	ENSP00000282466:p.Asp1690His						p.D1690H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5067	-			1690			Ig-like C2-type 3.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.5068G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390618	0.42410	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68479	-0.33	5.25	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.654694	0.13322	N	0.396619	T	0.66934	0.2840	L	0.28649	0.875	0.09310	N	1	P	0.52316	0.952	P	0.57776	0.827	T	0.55554	-0.8123	9	.	.	.	.	10.4078	0.44274	0.0:0.9077:0.0:0.0923	.	1690	Q6WRI0	IGS10_HUMAN	H	1690;317	ENSP00000282466:D1690H	.	D	-	1	0	IGSF10	152644357	0.073000	0.21202	0.980000	0.43619	0.967000	0.64934	1.982000	0.40638	2.458000	0.83093	0.585000	0.79938	GAT		0.398	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		24	96	0	0	0	1	0	24	96				
TPTE	7179	broad.mit.edu	37	21	10921956	10921956	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr21:10921956G>C	ENST00000361285.4	-	18	1396	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	TPTE_ENST00000298232.7_Missense_Mutation_p.S338C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S318C	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	356	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S338Y(1)|p.S356Y(1)|p.S338C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATATTTCAGAGGCAATAAG	0.343																																						ENST00000298232.7																			3	Substitution - Missense(3)	p.S338Y(1)|p.S356Y(1)|p.S338C(1)	lung(2)|prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1012-1014)tCt>tGt		transmembrane phosphatase with tensin homology							141.0	121.0	128.0					21																	10921956		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921956G>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1067C>G	21.37:g.10921956G>C	ENSP00000355208:p.Ser356Cys					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S356C|TPTE_ENST00000342420.5_Missense_Mutation_p.S318C	p.S338C	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1380	-			356			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1013C>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.216	-0.160629	0.06502	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86432	-2.12;-2.12;-2.12	2.26	-1.06	0.10002	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.279979	0.44483	N	0.000445	T	0.75391	0.3843	L	0.41356	1.27	0.09310	N	0.999996	B;B;B	0.14012	0.009;0.004;0.005	B;B;B	0.18561	0.02;0.02;0.022	T	0.61461	-0.7058	10	0.51188	T	0.08	-5.384	1.0677	0.01615	0.2282:0.3952:0.2255:0.1511	.	318;338;356	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	C	338;356;318	ENSP00000298232:S338C;ENSP00000355208:S356C;ENSP00000344441:S318C	ENSP00000298232:S338C	S	-	2	0	TPTE	9943827	0.017000	0.18338	0.002000	0.10522	0.006000	0.05464	1.397000	0.34543	-0.456000	0.07043	-1.490000	0.00973	TCT		0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			28	170	0	0	0	1	0	28	170				
SNTB1	6641	broad.mit.edu	37	8	121554095	121554095	+	Silent	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:121554095T>A	ENST00000395601.3	-	7	1893	c.1479A>T	c.(1477-1479)ggA>ggT	p.G493G	SNTB1_ENST00000517992.1_Silent_p.G493G|MTBP_ENST00000519841.1_Intron	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	493	SU.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.G493G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GCATCCTGATTCCATCATCTG	0.363																																						ENST00000395601.3																			1	Substitution - coding silent(1)	p.G493G(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(1477-1479)ggA>ggT		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							135.0	126.0	129.0					8																	121554095		2203	4300	6503	SO:0001819	synonymous_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121554095T>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1479A>T	8.37:g.121554095T>A						SNTB1_ENST00000517992.1_Silent_p.G493G|MTBP_ENST00000519841.1_Intron	p.G493G	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		7	1893	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		493			SU.		A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	c.1479A>T	CCDS6334.1																																																																																				0.363	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		10	219	0	0	0	1	0	10	219				
FAM71E1	112703	broad.mit.edu	37	19	50979132	50979132	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:50979132G>A	ENST00000600100.1	-	2	682	c.318C>T	c.(316-318)gaC>gaT	p.D106D	EMC10_ENST00000376918.3_5'Flank|FAM71E1_ENST00000595790.1_Silent_p.D106D|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000598585.1_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	106								p.D106D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CCCGAAACTGGTCGAATTCGC	0.627																																						ENST00000600100.1																			1	Substitution - coding silent(1)	p.D106D(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(316-318)gaC>gaT		family with sequence similarity 71, member E1							50.0	49.0	49.0					19																	50979132		2203	4300	6503	SO:0001819	synonymous_variant	112703							g.chr19:50979132G>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.318C>T	19.37:g.50979132G>A						FAM71E1_ENST00000595790.1_Silent_p.D106D	p.D106D			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	2	682	-		all_neural(266;0.131)	106					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.318C>T																																																																																					0.627	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			12	48	0	0	0	1	0	12	48				
CSPG4	1464	broad.mit.edu	37	15	75981610	75981610	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:75981610G>C	ENST00000308508.5	-	3	1888	c.1796C>G	c.(1795-1797)tCt>tGt	p.S599C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	599	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.S599C(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGAGGCCAGAGGAGGTGCC	0.672																																						ENST00000308508.5																			1	Substitution - Missense(1)	p.S599C(1)	prostate(1)	breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1795-1797)tCt>tGt		chondroitin sulfate proteoglycan 4							20.0	23.0	22.0					15																	75981610		2193	4288	6481	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981610G>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1796C>G	15.37:g.75981610G>C	ENSP00000312506:p.Ser599Cys						p.S599C	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1888	-			599			Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1796C>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	7.824	0.718403	0.15372	.	.	ENSG00000173546	ENST00000308508	T	0.20881	2.04	5.21	1.97	0.26223	.	1.679820	0.03131	N	0.165248	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B	0.31859	0.343	B	0.34301	0.179	T	0.31110	-0.9955	10	0.66056	D	0.02	.	1.2849	0.02049	0.1802:0.1704:0.4451:0.2043	.	599	Q6UVK1	CSPG4_HUMAN	C	599	ENSP00000312506:S599C	ENSP00000312506:S599C	S	-	2	0	CSPG4	73768665	.	.	0.012000	0.15200	0.360000	0.29518	.	.	1.165000	0.42670	0.555000	0.69702	TCT		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		8	54	0	0	0	1	0	8	54				
MUC16	94025	broad.mit.edu	37	19	9071591	9071591	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071591G>T	ENST00000397910.4	-	3	16058	c.15855C>A	c.(15853-15855)ccC>ccA	p.P5285P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5285P(2)|p.P918P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCCAAGGGAAGGGTAC	0.522																																						ENST00000397910.4																			3	Substitution - coding silent(3)	p.P5285P(2)|p.P918P(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15853-15855)ccC>ccA		mucin 16, cell surface associated							163.0	158.0	159.0					19																	9071591		2051	4202	6253	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071591G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15855C>A	19.37:g.9071591G>T							p.P5285P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16058	-			5287			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.15855C>A	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		43	118	1	0	2.58029e-29	1	3.00659e-29	43	118				
FOXN1	8456	broad.mit.edu	37	17	26851604	26851604	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851604C>T	ENST00000226247.2	+	2	236	c.207C>T	c.(205-207)cgC>cgT	p.R69R	FOXN1_ENST00000579795.1_Silent_p.R69R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R69R(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACAGCCCCCGCATTGCGTCAC	0.652																																						ENST00000226247.2																			1	Substitution - coding silent(1)	p.R69R(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)cgC>cgT		forkhead box N1							43.0	48.0	46.0					17																	26851604		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851604C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.207C>T	17.37:g.26851604C>T						FOXN1_ENST00000579795.1_Silent_p.R69R	p.R69R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			2	236	+	Lung NSC(42;0.00431)		69		R -> C (in dbSNP:rs2071587).			B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.207C>T	CCDS11232.1																																																																																				0.652	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			51	107	0	0	0	1	0	51	107				
FAM83A	84985	broad.mit.edu	37	8	124219675	124219675	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124219675C>T	ENST00000518448.1	+	5	3066	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.							p.A351V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTGTGTCCGCGTCTTCAGGG	0.731																																						ENST00000518448.1																			1	Substitution - Missense(1)	p.A351V(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1051-1053)gCg>gTg		family with sequence similarity 83, member A							8.0	10.0	10.0					8																	124219675		2127	4196	6323	SO:0001583	missense	84985							g.chr8:124219675C>T	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1052C>T	8.37:g.124219675C>T	ENSP00000428876:p.Ala351Val					FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000546351.1_Intron	p.A351V			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3066	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		351			Ser-rich.		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.1052C>T	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	C	5.760	0.324639	0.10900	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.08102	3.13;3.13	4.16	-2.97	0.05530	.	2.848170	0.01218	N	0.008039	T	0.04634	0.0126	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34601	-0.9822	10	0.27082	T	0.32	0.1336	3.8231	0.08843	0.107:0.1653:0.1452:0.5825	.	351	Q86UY5	FA83A_HUMAN	V	351	ENSP00000428876:A351V;ENSP00000323034:A351V	ENSP00000323034:A351V	A	+	2	0	FAM83A	124288856	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.476000	0.02333	-0.527000	0.06374	0.436000	0.28706	GCG		0.731	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		6	28	0	0	0	1	0	6	28				
ATP13A3	79572	broad.mit.edu	37	3	194126843	194126843	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:194126843C>T	ENST00000439040.1	-	33	4277	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	ATP13A3_ENST00000256031.4_Silent_p.E1162E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1162						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E1162E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCCACTGACTCCTAAGAAA	0.428																																						ENST00000439040.1																			1	Substitution - coding silent(1)	p.E1162E(1)	prostate(1)	NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3484-3486)gaG>gaA		ATPase type 13A3							68.0	65.0	66.0					3																	194126843		2009	4200	6209	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194126843C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3486G>A	3.37:g.194126843C>T						ATP13A3_ENST00000256031.4_Silent_p.E1162E	p.E1162E			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	33	4277	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1162					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.3486G>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	9.847	1.192735	0.21954	.	.	ENSG00000133657	ENST00000429136	.	.	.	5.79	1.95	0.26073	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	-10.1752	3.1459	0.06472	0.1178:0.5561:0.1272:0.1988	.	.	.	.	I	98	.	.	V	-	1	0	ATP13A3	195608132	0.991000	0.36638	0.996000	0.52242	0.544000	0.35116	0.658000	0.24979	0.064000	0.16427	-0.157000	0.13467	GTC		0.428	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		14	133	0	0	0	1	0	14	133				
ZNF432	9668	broad.mit.edu	37	19	52538071	52538071	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:52538071T>A	ENST00000594154.1	-	5	1073	c.861A>T	c.(859-861)aaA>aaT	p.K287N	ZNF432_ENST00000221315.5_Missense_Mutation_p.K287N			O94892	ZN432_HUMAN	zinc finger protein 432	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K287N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATATGTAGGGTTTCTCTCCAG	0.388																																						ENST00000594154.1																			1	Substitution - Missense(1)	p.K287N(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(859-861)aaA>aaT		zinc finger protein 432							96.0	96.0	96.0					19																	52538071		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538071T>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.861A>T	19.37:g.52538071T>A	ENSP00000470488:p.Lys287Asn					ZNF432_ENST00000221315.5_Missense_Mutation_p.K287N	p.K287N			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1073	-		all_neural(266;0.117)	287						Missense_Mutation	SNP	ENST00000594154.1	37	c.861A>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961192	0.53400	.	.	ENSG00000256087	ENST00000221315	T	0.26067	1.76	2.9	2.9	0.33743	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45736	0.1357	M	0.74389	2.26	0.23624	N	0.997261	D	0.71674	0.998	D	0.75020	0.985	T	0.17899	-1.0354	9	0.87932	D	0	.	6.2213	0.20683	0.0:0.1295:0.0:0.8705	.	287	O94892	ZN432_HUMAN	N	287	ENSP00000221315:K287N	ENSP00000221315:K287N	K	-	3	2	ZNF432	57229883	0.035000	0.19736	0.997000	0.53966	0.989000	0.77384	-0.463000	0.06696	1.333000	0.45449	0.477000	0.44152	AAA		0.388	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		48	225	0	0	0	1	0	48	225				
ZNF410	57862	broad.mit.edu	37	14	74370665	74370665	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:74370665G>A	ENST00000555044.1	+	6	777	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K|RP5-1021I20.4_ENST00000556551.2_3'UTR|RP5-1021I20.6_ENST00000602874.1_RNA|ZNF410_ENST00000412490.3_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E195K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGTTACAGGAGAAAATGTCCA	0.428																																						ENST00000555044.1																			1	Substitution - Missense(1)	p.E195K(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(583-585)Gaa>Aaa		zinc finger protein 410							97.0	88.0	91.0					14																	74370665		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74370665G>A	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.583G>A	14.37:g.74370665G>A	ENSP00000451763:p.Glu195Lys					ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K	p.E195K	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	6	777	+			195					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.583G>A	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094557	0.94149	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521	T;T;T;T;T	0.08896	3.1;3.11;3.06;3.1;3.04	4.84	4.84	0.62591	.	0.000000	0.35646	U	0.003079	T	0.24470	0.0593	.	.	.	0.80722	D	1	D;D;D;P	0.71674	0.998;0.986;0.996;0.956	D;D;D;P	0.75484	0.986;0.968;0.981;0.899	T	0.01977	-1.1236	9	0.19590	T	0.45	.	18.1392	0.89633	0.0:0.0:1.0:0.0	.	122;212;195;195	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	K	122;195;184;212;195;142	ENSP00000442228:E122K;ENSP00000323293:E195K;ENSP00000407130:E212K;ENSP00000451763:E195K;ENSP00000334170:E142K	ENSP00000323293:E195K	E	+	1	0	ZNF410	73440418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.944000	0.75940	2.523000	0.85059	0.655000	0.94253	GAA		0.428	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		39	105	0	0	0	1	0	39	105				
NTN5	126147	broad.mit.edu	37	19	49165010	49165010	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:49165010C>T	ENST00000270235.4	-	7	1489	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	465	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular region (GO:0005576)		p.R465Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CTGCTGCAGCCGCTTCAGGGG	0.766																																						ENST00000270235.4																			1	Substitution - Missense(1)	p.R465Q(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(1393-1395)cGg>cAg		netrin 5							5.0	5.0	5.0					19																	49165010		1461	3120	4581	SO:0001583	missense	126147					extracellular region		g.chr19:49165010C>T		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1394G>A	19.37:g.49165010C>T	ENSP00000270235:p.Arg465Gln					SEC1P_ENST00000430145.2_RNA	p.R465Q	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			7	1489	-			465			NTR.		Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.1394G>A	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578446	0.65878	.	.	ENSG00000142233	ENST00000270235	T	0.23950	1.88	5.27	1.95	0.26073	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.125505	0.50627	N	0.000108	T	0.35278	0.0926	L	0.48986	1.54	0.39234	D	0.963726	D	0.89917	1.0	D	0.63957	0.92	T	0.14282	-1.0478	10	0.52906	T	0.07	.	6.0395	0.19726	0.155:0.6789:0.0:0.1661	.	465	Q8WTR8	NET5_HUMAN	Q	465	ENSP00000270235:R465Q	ENSP00000270235:R465Q	R	-	2	0	NTN5	53856822	0.001000	0.12720	0.998000	0.56505	0.430000	0.31655	0.154000	0.16343	0.721000	0.32231	-0.140000	0.14226	CGG		0.766	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		2	1	0	0	0	1	0	2	1				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	40	0	0	0	1	0	3	40				
PCDHA1	56147	broad.mit.edu	37	5	140166478	140166478	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:140166478T>A	ENST00000504120.2	+	1	603	c.603T>A	c.(601-603)gaT>gaA	p.D201E	PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.D201E(2)		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)			AATATTTGGATAGAGAAGAAA	0.453																																						ENST00000504120.2																			2	Substitution - Missense(2)	p.D201E(2)	prostate(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(601-603)gaT>gaA									71.0	77.0	75.0					5																	140166478		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166478T>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.603T>A	5.37:g.140166478T>A	ENSP00000420840:p.Asp201Glu					PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E	p.D201E	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	603	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.603T>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	t	17.94	3.510880	0.64522	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.63255	-0.03;-0.03;-0.03	4.13	-1.51	0.08664	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	U	0.000412	D	0.84969	0.5590	H	0.99435	4.565	0.26357	N	0.977109	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.986	T	0.76594	-0.2902	10	0.87932	D	0	.	9.114	0.36746	0.0:0.685:0.0:0.315	.	201;201;201	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	E	201	ENSP00000420840:D201E;ENSP00000378129:D201E;ENSP00000367373:D201E	ENSP00000367373:D201E	D	+	3	2	PCDHA1	140146662	0.185000	0.23213	0.460000	0.27093	0.995000	0.86356	0.297000	0.19101	-0.652000	0.05408	0.528000	0.53228	GAT		0.453	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		11	121	0	0	0	1	0	11	121				
CACYBP	27101	broad.mit.edu	37	1	174979201	174979201	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:174979201G>A	ENST00000367679.2	+	6	1121	c.673G>A	c.(673-675)Gac>Aac	p.D225N	CACYBP_ENST00000367681.2_Missense_Mutation_p.D182N|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	225	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.D225N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCCAAAGGAGACACGGAATT	0.378																																						ENST00000367681.2																			1	Substitution - Missense(1)	p.D225N(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(544-546)Gac>Aac		calcyclin binding protein							100.0	96.0	98.0					1																	174979201		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174979201G>A	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.673G>A	1.37:g.174979201G>A	ENSP00000356652:p.Asp225Asn					CACYBP_ENST00000367679.2_Missense_Mutation_p.D225N|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N	p.D182N	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			6	1184	+			225			Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.544G>A	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279517	0.95489	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	6.02	6.02	0.97574	SGS (1);	0.244102	0.46758	D	0.000270	T	0.71039	0.3293	M	0.72118	2.19	0.80722	D	1	D	0.56035	0.974	P	0.47981	0.563	T	0.73467	-0.3973	9	0.62326	D	0.03	-24.3566	20.5407	0.99260	0.0:0.0:1.0:0.0	.	225	Q9HB71	CYBP_HUMAN	N	182;198;225;182	.	ENSP00000356652:D225N	D	+	1	0	CACYBP	173245824	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.168000	0.71908	2.865000	0.98341	0.655000	0.94253	GAC		0.378	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		30	77	0	0	0	1	0	30	77				
SLC35C2	51006	broad.mit.edu	37	20	44979077	44979077	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:44979077C>A	ENST00000372227.1	-	10	1594	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	352					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D352Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTCATTGTCACCTTCCTCC	0.642																																						ENST00000372227.1																			1	Substitution - Missense(1)	p.D352Y(1)	prostate(1)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16						c.(1054-1056)Gac>Tac		solute carrier family 35 (GDP-fucose transporter), member C2							80.0	67.0	71.0					20																	44979077		2203	4300	6503	SO:0001583	missense	51006				transport	integral to membrane		g.chr20:44979077C>A		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.1054G>T	20.37:g.44979077C>A	ENSP00000361301:p.Asp352Tyr					SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y	p.D352Y			Q9NQQ7	S35C2_HUMAN			10	1594	-		Myeloproliferative disorder(115;0.0122)	352					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	c.1054G>T	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211413	0.58343	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605	T;T	0.78364	-1.17;0.8	4.63	3.67	0.42095	.	0.536765	0.17902	N	0.158155	T	0.72819	0.3508	N	0.19112	0.55	0.09310	N	0.999997	P;B;P;P	0.48694	0.471;0.272;0.914;0.86	B;B;P;P	0.53988	0.421;0.226;0.739;0.552	T	0.63800	-0.6555	10	0.72032	D	0.01	-4.5989	8.9276	0.35650	0.0:0.8974:0.0:0.1026	.	381;217;331;352	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	Y	331;352;352;219;352;220;381	ENSP00000318960:D331Y;ENSP00000361303:D219Y	ENSP00000243896:D352Y	D	-	1	0	SLC35C2	44412484	0.681000	0.27614	0.014000	0.15608	0.959000	0.62525	1.633000	0.37113	1.138000	0.42230	0.655000	0.94253	GAC		0.642	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		33	135	1	0	1.03484e-13	1	1.12738e-13	33	135				
FAT3	120114	broad.mit.edu	37	11	92570900	92570900	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:92570900C>T	ENST00000298047.6	+	16	10313	c.10296C>T	c.(10294-10296)gtC>gtT	p.V3432V	FAT3_ENST00000409404.2_Silent_p.V3432V|FAT3_ENST00000525166.1_Silent_p.V3282V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3432	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V3432V(2)|p.V7V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCAACTGTCAACATTGATA	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			3	Substitution - coding silent(3)	p.V3432V(2)|p.V7V(1)	prostate(3)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10294-10296)gtC>gtT		FAT atypical cadherin 3							128.0	127.0	127.0					11																	92570900		1991	4174	6165	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92570900C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10296C>T	11.37:g.92570900C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.V3282V|FAT3_ENST00000409404.2_Silent_p.V3432V	p.V3432V			Q8TDW7	FAT3_HUMAN			16	10313	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3432			Cadherin 31.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.10296C>T																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		32	66	0	0	0	1	0	32	66				
GPR37L1	9283	broad.mit.edu	37	1	202092294	202092294	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:202092294C>T	ENST00000367282.5	+	1	309	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	68					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.P68L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GCGGAGTACCCCCGGCCCATT	0.672																																						ENST00000367282.4																			1	Substitution - Missense(1)	p.P68L(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(202-204)cCc>cTc		G protein-coupled receptor 37 like 1							48.0	44.0	45.0					1																	202092294		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092294C>T	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.203C>T	1.37:g.202092294C>T	ENSP00000356251:p.Pro68Leu						p.P68L	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	309	+			68					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.203C>T	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112406	0.77210	.	.	ENSG00000170075	ENST00000367282	D	0.87571	-2.27	5.13	4.21	0.49690	.	0.242185	0.35615	N	0.003095	D	0.89594	0.6760	L	0.59436	1.845	0.80722	D	1	D	0.61697	0.99	P	0.56343	0.796	D	0.89701	0.3905	10	0.59425	D	0.04	-39.2225	13.0574	0.58988	0.1611:0.8389:0.0:0.0	.	68	O60883	ETBR2_HUMAN	L	68	ENSP00000356251:P68L	ENSP00000356251:P68L	P	+	2	0	GPR37L1	200358917	0.993000	0.37304	0.997000	0.53966	0.901000	0.52897	3.282000	0.51693	1.131000	0.42111	0.462000	0.41574	CCC		0.672	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		6	45	0	0	0	1	0	6	45				
SMARCAL1	50485	broad.mit.edu	37	2	217279676	217279676	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:217279676C>G	ENST00000357276.4	+	3	579	c.249C>G	c.(247-249)gaC>gaG	p.D83E	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	83					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.D83E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTAATGCTGACCAAAGACCTC	0.478									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			1	Substitution - Missense(1)	p.D83E(1)	prostate(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(247-249)gaC>gaG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							66.0	69.0	68.0					2																	217279676		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279676C>G	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.249C>G	2.37:g.217279676C>G	ENSP00000349823:p.Asp83Glu					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E	p.D83E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	579	+		Renal(323;0.0458)	83					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.249C>G	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333060	0.24167	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.75	1.93	0.25924	.	0.820054	0.10944	N	0.616843	T	0.19248	0.0462	L	0.32530	0.975	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.22347	-1.0219	10	0.52906	T	0.07	-4.8712	8.1794	0.31302	0.0:0.6476:0.0:0.3524	.	83	Q9NZC9	SMAL1_HUMAN	E	83	ENSP00000405077:D83E;ENSP00000349823:D83E;ENSP00000398969:D83E;ENSP00000350940:D83E;ENSP00000402967:D83E	ENSP00000349823:D83E	D	+	3	2	SMARCAL1	216987921	0.302000	0.24454	0.727000	0.30756	0.785000	0.44390	0.294000	0.19047	0.219000	0.20840	0.563000	0.77884	GAC		0.478	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			27	134	0	0	0	1	0	27	134				
EPHB2	2048	broad.mit.edu	37	1	23110993	23110993	+	Missense_Mutation	SNP	C	C	T	rs139122679		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:23110993C>T	ENST00000400191.3	+	3	253	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	EPHB2_ENST00000374632.3_Missense_Mutation_p.R79W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R79W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R73W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R79W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	79	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R79W(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGTTTATCCGGCGCCGTGG	0.577																																						ENST00000400191.3																			1	Substitution - Missense(1)	p.R79W(1)	prostate(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(235-237)Cgg>Tgg		EPH receptor B2		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	65.0	59.0	61.0		235,235	4.4	1.0	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHB2	NM_004442.6,NM_017449.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	79/988,79/987	23110993	1,13005	2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23110993C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.235C>T	1.37:g.23110993C>T	ENSP00000383053:p.Arg79Trp					EPHB2_ENST00000374627.1_Missense_Mutation_p.R73W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R79W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R79W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R79W	p.R79W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	253	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	79					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.235C>T		.	.	.	.	.	.	.	.	.	.	C	14.40	2.524929	0.44969	0.0	1.16E-4	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81	5.29	4.38	0.52667	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.11560	0.145	0.58432	D	0.999994	B;B;B;B	0.26318	0.146;0.014;0.014;0.011	B;B;B;B	0.25614	0.062;0.013;0.013;0.008	T	0.53436	-0.8439	10	0.33141	T	0.24	.	14.8179	0.70048	0.0:0.855:0.145:0.0	.	79;79;97;79	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	79;79;79;79;79;73	ENSP00000444174:R79W;ENSP00000363761:R79W;ENSP00000383053:R79W;ENSP00000363763:R79W;ENSP00000363758:R73W	ENSP00000363755:R79W	R	+	1	2	EPHB2	22983580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.609000	0.54117	1.460000	0.47911	0.484000	0.47621	CGG		0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		20	33	0	0	0	1	0	20	33				
TMEM255B	348013	broad.mit.edu	37	13	114514745	114514745	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:114514745C>T	ENST00000375353.3	+	9	877	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	284	Pro-rich.					integral component of membrane (GO:0016021)		p.L284L(1)									CTCCTCTGCCCTGGCTTCGTC	0.657																																						ENST00000375353.3																			1	Substitution - coding silent(1)	p.L284L(1)	prostate(1)								c.(850-852)Ctg>Ttg		transmembrane protein 255B							50.0	56.0	54.0					13																	114514745		2203	4300	6503	SO:0001819	synonymous_variant	348013							g.chr13:114514745C>T	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.850C>T	13.37:g.114514745C>T						TMEM255B_ENST00000467169.1_3'UTR	p.L284L	NM_182614.2	NP_872420.1					9	877	+									Silent	SNP	ENST00000375353.3	37	c.850C>T	CCDS45071.1																																																																																				0.657	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		39	107	0	0	0	1	0	39	107				
LRRC36	55282	broad.mit.edu	37	16	67405081	67405081	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:67405081G>C	ENST00000329956.6	+	9	1449	c.1430G>C	c.(1429-1431)tGg>tCg	p.W477S	LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I|LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	477								p.W477S(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGATTCAAATGGAAGGACAAT	0.463																																						ENST00000329956.6																			1	Substitution - Missense(1)	p.W477S(1)	prostate(1)	endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1429-1431)tGg>tCg		leucine rich repeat containing 36							149.0	135.0	140.0					16																	67405081		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67405081G>C	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1430G>C	16.37:g.67405081G>C	ENSP00000329943:p.Trp477Ser					LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I	p.W477S	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	9	1449	+		Ovarian(137;0.192)	477					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1430G>C	CCDS32467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.941012|1.941012	0.34283|0.34283	.|.	.|.	ENSG00000159708|ENSG00000159708	ENST00000541146|ENST00000329956;ENST00000290940;ENST00000435835	T|T;T;T	0.44482|0.40756	0.92|3.36;1.02;1.6	5.84|5.84	3.88|3.88	0.44766|0.44766	.|.	.|0.224065	.|0.31010	.|N	.|0.008435	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.14661|0.14661	0.345|0.345	0.41384|0.41384	D|D	0.987579|0.987579	B|B;B;B;B	0.09022|0.16396	0.002|0.017;0.008;0.005;0.017	B|B;B;B;B	0.09377|0.14023	0.004|0.006;0.01;0.009;0.006	T|T	0.06588|0.06588	-1.0818|-1.0818	9|10	0.87932|0.44086	D|T	0|0.13	-3.5718|-3.5718	8.2478|8.2478	0.31700|0.31700	0.1749:0.0:0.8251:0.0|0.1749:0.0:0.8251:0.0	.|.	1|356;209;356;477	B7Z4G3|B7Z7B3;Q9NV11;Q1X8D7-2;Q1X8D7	.|.;.;.;LRC36_HUMAN	I|S	1|477;209;356	ENSP00000445861:M1I|ENSP00000329943:W477S;ENSP00000290940:W209S;ENSP00000411122:W356S	ENSP00000445861:M1I|ENSP00000290940:W209S	M|W	+|+	3|2	0|0	LRRC36|LRRC36	65962582|65962582	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.937000|0.937000	0.28951|0.28951	1.492000|1.492000	0.48499|0.48499	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.463	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		25	238	0	0	0	1	0	25	238				
PKDREJ	10343	broad.mit.edu	37	22	46658215	46658215	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:46658215G>T	ENST00000253255.5	-	1	1004	c.1005C>A	c.(1003-1005)tcC>tcA	p.S335S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	335	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.S335S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCGCCTGCAGGGAACTCCTGA	0.552																																						ENST00000253255.5																			1	Substitution - coding silent(1)	p.S335S(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1003-1005)tcC>tcA		polycystin (PKD) family receptor for egg jelly							121.0	128.0	126.0					22																	46658215		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658215G>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1005C>A	22.37:g.46658215G>T							p.S335S	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1004	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	335			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1005C>A	CCDS14073.1																																																																																				0.552	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		50	196	1	0	3.28156e-27	1	3.72651e-27	50	196				
KIF24	347240	broad.mit.edu	37	9	34257426	34257426	+	Missense_Mutation	SNP	C	C	T	rs374423056		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:34257426C>T	ENST00000402558.2	-	10	2203	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	KIF24_ENST00000379174.3_Missense_Mutation_p.A593T|KIF24_ENST00000345050.2_Missense_Mutation_p.A593T|KIF24_ENST00000379166.2_Missense_Mutation_p.A727T			Q5T7B8	KIF24_HUMAN	kinesin family member 24	727					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A209T(1)|p.A727T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTGTGGTGGGCGTTGCCAAAG	0.567																																						ENST00000379166.2																			2	Substitution - Missense(2)	p.A209T(1)|p.A727T(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2179-2181)Gcc>Acc		kinesin family member 24		C	THR/ALA	0,4406		0,0,2203	205.0	200.0	202.0		2179	-11.3	0.0	9		202	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF24	NM_194313.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	727/1369	34257426	1,13005	2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257426C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2179G>A	9.37:g.34257426C>T	ENSP00000384433:p.Ala727Thr					KIF24_ENST00000402558.2_Missense_Mutation_p.A727T|KIF24_ENST00000345050.2_Missense_Mutation_p.A593T|KIF24_ENST00000379174.3_Missense_Mutation_p.A593T	p.A727T	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2298	-			727					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.2179G>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	1.941	-0.443495	0.04604	0.0	1.16E-4	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.70631	-0.3;-0.5;-0.3;-0.5	5.8	-11.3	0.00108	.	2.832070	0.01222	N	0.008139	T	0.37544	0.1007	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26360	-1.0105	10	0.13470	T	0.59	.	9.9493	0.41630	0.0:0.3313:0.3281:0.3406	.	727	Q5T7B8	KIF24_HUMAN	T	727;593;727;593;727	ENSP00000384433:A727T;ENSP00000368472:A593T;ENSP00000368464:A727T;ENSP00000340179:A593T	ENSP00000340179:A593T	A	-	1	0	KIF24	34247426	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.206000	0.03011	-1.161000	0.02800	-1.119000	0.02030	GCC		0.567	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			134	303	0	0	0	1	0	134	303				
PTCHD4	442213	broad.mit.edu	37	6	47976509	47976509	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:47976509G>C	ENST00000339488.4	-	2	801	c.768C>G	c.(766-768)gaC>gaG	p.D256E	PTCHD4_ENST00000543600.1_Missense_Mutation_p.D239E	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	256	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.D256E(1)									TGCGCAAGCAGTCCTTCATGG	0.567																																						ENST00000543600.1																			1	Substitution - Missense(1)	p.D256E(1)	prostate(1)								c.(715-717)gaC>gaG		patched domain containing 4							62.0	63.0	63.0					6																	47976509		2035	4206	6241	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976509G>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.768C>G	6.37:g.47976509G>C	ENSP00000341914:p.Asp256Glu					PTCHD4_ENST00000339488.4_Missense_Mutation_p.D256E	p.D239E			Q6ZW05	CF138_HUMAN			2	756	-			256			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.717C>G	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.865476|3.865476	0.71949|0.71949	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.88277|.	-2.36;-2.36|.	6.16|6.16	3.45|3.45	0.39498|0.39498	Sterol-sensing domain (1);|.	0.046628|.	0.85682|.	N|.	0.000000|.	T|T	0.62122|0.62122	0.2402|0.2402	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999994|0.999994	D;B|.	0.65815|.	0.995;0.003|.	D;B|.	0.64595|.	0.927;0.007|.	T|T	0.63409|0.63409	-0.6644|-0.6644	10|5	0.33940|.	T|.	0.23|.	.|.	9.9147|9.9147	0.41427|0.41427	0.1245:0.1152:0.7603:0.0|0.1245:0.1152:0.7603:0.0	.|.	256;239|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	E|V	256;239|256	ENSP00000341914:D256E;ENSP00000439864:D239E|.	ENSP00000341914:D256E|.	D|L	-|-	3|1	2|2	C6orf138|C6orf138	48084468|48084468	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	6.456000|6.456000	0.73501|0.73501	0.488000|0.488000	0.27723|0.27723	-0.172000|-0.172000	0.13284|0.13284	GAC|CTG		0.567	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		8	73	0	0	0	1	0	8	73				
SLC5A2	6524	broad.mit.edu	37	16	31498984	31498984	+	Nonsense_Mutation	SNP	C	C	G	rs188105101	byFrequency	TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:31498984C>G	ENST00000330498.3	+	7	808	c.789C>G	c.(787-789)taC>taG	p.Y263*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	263					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.Y263*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCGACTCCTACCACCTGCTCC	0.652																																						ENST00000330498.3																			1	Substitution - Nonsense(1)	p.Y263*(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(787-789)taC>taG		solute carrier family 5 (sodium/glucose cotransporter), member 2							38.0	38.0	38.0					16																	31498984		2197	4300	6497	SO:0001587	stop_gained	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31498984C>G		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.789C>G	16.37:g.31498984C>G	ENSP00000327943:p.Tyr263*					AC026471.6_ENST00000565137.1_RNA	p.Y263*	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			7	808	+			263					A2RRD2	Nonsense_Mutation	SNP	ENST00000330498.3	37	c.789C>G	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249819	0.80024	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.14	-1.8	0.07907	.	0.073772	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	8.3884	0.32514	0.0:0.3291:0.0:0.6709	.	.	.	.	X	263	.	ENSP00000327943:Y263X	Y	+	3	2	SLC5A2	31406485	0.020000	0.18652	0.996000	0.52242	0.934000	0.57294	-0.704000	0.05058	-0.177000	0.10690	-0.379000	0.06801	TAC		0.652	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			10	89	0	0	0	1	0	10	89				
KIAA1377	57562	broad.mit.edu	37	11	101832589	101832589	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:101832589T>C	ENST00000263468.8	+	6	1093	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	275			S -> Y (in dbSNP:rs11225089).					p.S275P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCATTCCACATCCATCCAGCG	0.373																																						ENST00000263468.8																			1	Substitution - Missense(1)	p.S275P(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(823-825)Tcc>Ccc		KIAA1377							70.0	69.0	69.0					11																	101832589		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101832589T>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.823T>C	11.37:g.101832589T>C	ENSP00000263468:p.Ser275Pro					KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P	p.S275P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1093	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	275		S -> Y (in dbSNP:rs11225089).			Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.823T>C	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	T	2.811	-0.246867	0.05867	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08984	3.03;3.03	5.79	0.367	0.16140	.	0.872596	0.09897	N	0.741566	T	0.10121	0.0248	M	0.73598	2.24	0.09310	N	1	B	0.17667	0.023	B	0.16722	0.016	T	0.39396	-0.9616	10	0.56958	D	0.05	-0.4923	2.0185	0.03504	0.1061:0.2089:0.2148:0.4702	.	275	Q9P2H0	K1377_HUMAN	P	275;76	ENSP00000263468:S275P;ENSP00000443184:S76P	ENSP00000263468:S275P	S	+	1	0	KIAA1377	101337799	0.018000	0.18449	0.008000	0.14137	0.168000	0.22595	0.359000	0.20233	0.126000	0.18424	0.533000	0.62120	TCC		0.373	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		42	90	0	0	0	1	0	42	90				
STAC	6769	broad.mit.edu	37	3	36524554	36524554	+	Silent	SNP	C	C	T	rs145962483	byFrequency	TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:36524554C>T	ENST00000273183.3	+	3	759	c.459C>T	c.(457-459)ggC>ggT	p.G153G	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	153					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.G153G(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCACAGATGGCCTGGCACCCC	0.562																																						ENST00000273183.3																			1	Substitution - coding silent(1)	p.G153G(1)	prostate(1)	endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(457-459)ggC>ggT		SH3 and cysteine rich domain							84.0	69.0	74.0					3																	36524554		2203	4300	6503	SO:0001819	synonymous_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36524554C>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.459C>T	3.37:g.36524554C>T						STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	p.G153G	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			3	759	+			153					B2R8S8	Silent	SNP	ENST00000273183.3	37	c.459C>T	CCDS2662.1																																																																																				0.562	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		33	90	0	0	0	1	0	33	90				
ERCC2	2068	broad.mit.edu	37	19	45858935	45858935	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:45858935G>A	ENST00000391945.4	-	16	1608	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	ERCC2_ENST00000391944.3_Missense_Mutation_p.R433W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	511	Mediates interaction with MMS19.		R -> Q (in XP-D).		7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.R511W(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATATCCTCCCGGGTCTCAAAT	0.547			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.R511W(1)	prostate(1)	large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1531-1533)Cgg>Tgg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							118.0	98.0	105.0					19																	45858935		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45858935G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1531C>T	19.37:g.45858935G>A	ENSP00000375809:p.Arg511Trp					ERCC2_ENST00000391944.3_Missense_Mutation_p.R433W	p.R511W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	16	1608	-		Ovarian(192;0.0728)|all_neural(266;0.112)	511		R -> Q (in XP-D).	Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1531C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202888	0.79127	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.88201	-2.12;-2.35	5.68	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.957	D	0.96187	0.9135	10	0.87932	D	0	-37.7542	11.6119	0.51064	0.0:0.0:0.8153:0.1847	.	433;511;204	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	W	461;487;511;433	ENSP00000375809:R511W;ENSP00000375808:R433W	ENSP00000375805:R461W	R	-	1	2	ERCC2	50550775	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.456000	0.44997	1.350000	0.45770	0.561000	0.74099	CGG		0.547	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		22	63	0	0	0	1	0	22	63				
TDRD5	163589	broad.mit.edu	37	1	179638343	179638343	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:179638343T>C	ENST00000367614.1	+	16	2861	c.2502T>C	c.(2500-2502)aaT>aaC	p.N834N	TDRD5_ENST00000294848.8_Silent_p.N834N|TDRD5_ENST00000444136.1_Silent_p.N888N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	834					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.N834N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGACATAAATGGTTCTTCAG	0.403																																						ENST00000444136.1																			1	Substitution - coding silent(1)	p.N834N(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(2662-2664)aaT>aaC		tudor domain containing 5							95.0	101.0	99.0					1																	179638343		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179638343T>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2502T>C	1.37:g.179638343T>C						TDRD5_ENST00000294848.8_Silent_p.N834N|TDRD5_ENST00000367614.1_Silent_p.N834N	p.N888N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			17	2914	+			860					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.2664T>C	CCDS1332.1																																																																																				0.403	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		69	148	0	0	0	1	0	69	148				
UNC13C	440279	broad.mit.edu	37	15	54305247	54305247	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:54305247G>T	ENST00000260323.11	+	1	147	c.147G>T	c.(145-147)caG>caT	p.Q49H	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	49					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.Q49H(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGCTGGCCAGACCAAATCCC	0.398																																						ENST00000545554.1																			2	Substitution - Missense(2)	p.Q49H(2)	prostate(2)	breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(145-147)caG>caT		unc-13 homolog C (C. elegans)							96.0	99.0	98.0					15																	54305247		1842	4080	5922	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305247G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.147G>T	15.37:g.54305247G>T	ENSP00000260323:p.Gln49His					UNC13C_ENST00000260323.11_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H	p.Q49H			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	147	+			49					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.147G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	1.004	-0.689910	0.03328	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79749	-1.3;-1.3;-1.3	4.82	1.55	0.23275	.	.	.	.	.	T	0.59985	0.2234	N	0.08118	0	0.26701	N	0.971167	B	0.02656	0.0	B	0.04013	0.001	T	0.49744	-0.8907	9	0.39692	T	0.17	.	6.4354	0.21821	0.157:0.5452:0.2978:0.0	.	49	Q8NB66	UN13C_HUMAN	H	49	ENSP00000260323:Q49H;ENSP00000438156:Q49H;ENSP00000442569:Q49H	ENSP00000260323:Q49H	Q	+	3	2	UNC13C	52092539	0.999000	0.42202	0.895000	0.35142	0.132000	0.20833	0.704000	0.25661	0.388000	0.25054	0.655000	0.94253	CAG		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		43	82	1	0	2.13384e-23	1	2.36309e-23	43	82				
CNOT4	4850	broad.mit.edu	37	7	135106938	135106938	+	Silent	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:135106938A>C	ENST00000315544.5	-	3	618	c.339T>G	c.(337-339)gtT>gtG	p.V113V	CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V|CNOT4_ENST00000428680.2_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000356162.4_Silent_p.V113V	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	113	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V113V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATAAACCTACAACAAAGACGA	0.348																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			2	Substitution - coding silent(2)	p.V113V(2)	prostate(2)	autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(337-339)gtT>gtG		CCR4-NOT transcription complex, subunit 4							150.0	141.0	144.0					7																	135106938		1857	4091	5948	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106938A>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.339T>G	7.37:g.135106938A>C						CNOT4_ENST00000356162.4_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000315544.5_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V	p.V113V	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			3	618	-			113			RRM.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.339T>G	CCDS55166.1																																																																																				0.348	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		54	128	0	0	0	1	0	54	128				
TGFBR3	7049	broad.mit.edu	37	1	92262994	92262994	+	Silent	SNP	A	A	T	rs373417209		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:92262994A>T	ENST00000525962.1	-	2	157	c.96T>A	c.(94-96)ccT>ccA	p.P32P	TGFBR3_ENST00000370399.2_Silent_p.P32P|TGFBR3_ENST00000212355.4_Silent_p.P32P			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	32					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.P32P(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGCACTGACAGGTGACAGTT	0.552																																						ENST00000212355.4																			1	Substitution - coding silent(1)	p.P32P(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(94-96)ccT>ccA		transforming growth factor, beta receptor III							75.0	74.0	74.0					1																	92262994		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92262994A>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.96T>A	1.37:g.92262994A>T						TGFBR3_ENST00000525962.1_Silent_p.P32P|TGFBR3_ENST00000370399.2_Silent_p.P32P	p.P32P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	3	561	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	32					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.96T>A	CCDS30770.1																																																																																				0.552	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		42	96	0	0	0	1	0	42	96				
BCL6B	255877	broad.mit.edu	37	17	6930071	6930071	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:6930071C>G	ENST00000293805.5	+	7	1194	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	368					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P368A(2)		skin(1)	1						TTTTAACCGGCCAGCAAACCT	0.577																																						ENST00000293805.5																			2	Substitution - Missense(2)	p.P368A(2)	prostate(2)	skin(1)	1						c.(1102-1104)Cca>Gca		B-cell CLL/lymphoma 6, member B							61.0	69.0	66.0					17																	6930071		1979	4160	6139	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6930071C>G	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1102C>G	17.37:g.6930071C>G	ENSP00000293805:p.Pro368Ala						p.P368A	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			7	1194	+			368					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.1102C>G	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.681023	0.68042	.	.	ENSG00000161940	ENST00000293805	T	0.34275	1.37	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055008	0.64402	D	0.000001	T	0.29061	0.0722	N	0.17764	0.52	0.45108	D	0.998124	P	0.37824	0.609	B	0.40825	0.341	T	0.03202	-1.1061	10	0.15066	T	0.55	.	17.8727	0.88815	0.0:1.0:0.0:0.0	.	368	Q8N143	BCL6B_HUMAN	A	368	ENSP00000293805:P368A	ENSP00000293805:P368A	P	+	1	0	BCL6B	6870795	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	3.974000	0.56852	2.826000	0.97356	0.563000	0.77884	CCA		0.577	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		8	103	0	0	0	1	0	8	103				
TTBK2	146057	broad.mit.edu	37	15	43044437	43044437	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:43044437G>C	ENST00000267890.6	-	14	3115	c.3007C>G	c.(3007-3009)Cta>Gta	p.L1003V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1003					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1003V(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCTCCTCTAGCAATTTATCA	0.468																																						ENST00000267890.6																			1	Substitution - Missense(1)	p.L1003V(1)	prostate(1)	NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3007-3009)Cta>Gta		tau tubulin kinase 2							96.0	92.0	94.0					15																	43044437		1900	4117	6017	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044437G>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3007C>G	15.37:g.43044437G>C	ENSP00000267890:p.Leu1003Val						p.L1003V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3115	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1003					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.3007C>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476056	0.26511	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.38560	1.13	5.78	2.75	0.32379	.	0.222890	0.30999	N	0.008451	T	0.32346	0.0826	L	0.43152	1.355	0.80722	D	1	B;B	0.21381	0.055;0.033	B;B	0.21917	0.037;0.016	T	0.12400	-1.0549	10	0.51188	T	0.08	.	7.5568	0.27829	0.0664:0.117:0.6887:0.1279	.	934;1003	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	V	1003;933;1408	ENSP00000267890:L1003V	ENSP00000263802:L1408V	L	-	1	2	TTBK2	40831729	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.885000	0.39678	0.726000	0.32339	0.563000	0.77884	CTA		0.468	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		13	150	0	0	0	1	0	13	150				
ACTG1	71	broad.mit.edu	37	17	79478427	79478427	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:79478427C>T	ENST00000575842.1	-	3	1015	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	197					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.G197S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AAGCTGTAGCCTCGCTCAGTG	0.642																																						ENST00000575842.1																			1	Substitution - Missense(1)	p.G197S(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(589-591)Ggc>Agc		actin, gamma 1							55.0	57.0	56.0					17																	79478427		2203	4300	6503	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478427C>T		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.589G>A	17.37:g.79478427C>T	ENSP00000458162:p.Gly197Ser					ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S	p.G197S			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		3	1015	-	all_neural(118;0.0878)|Melanoma(429;0.242)		197					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.589G>A	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	c	17.15	3.316457	0.60524	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94723	-3.5	4.56	3.59	0.41128	.	0.000000	0.64402	D	0.000001	D	0.98049	0.9357	H	0.97240	3.965	0.53688	D	0.999978	D	0.71674	0.998	D	0.85130	0.997	D	0.98054	1.0389	10	0.87932	D	0	.	11.4231	0.49993	0.0:0.91:0.0:0.0899	.	197	P63261	ACTG_HUMAN	S	197;155	ENSP00000331514:G197S	ENSP00000331514:G197S	G	-	1	0	ACTG1	77093022	1.000000	0.71417	0.550000	0.28217	0.817000	0.46193	7.396000	0.79891	0.941000	0.37499	0.553000	0.69018	GGC		0.642	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		39	86	0	0	0	1	0	39	86				
PREX2	80243	broad.mit.edu	37	8	69002823	69002823	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:69002823C>T	ENST00000288368.4	+	20	2400	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	708	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.A708V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAACTGTGGCTGCAGCAGCT	0.368																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.A708V(2)	prostate(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2122-2124)gCt>gTt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							84.0	81.0	82.0					8																	69002823		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69002823C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2123C>T	8.37:g.69002823C>T	ENSP00000288368:p.Ala708Val					PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	p.A708V	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			20	2400	+			708			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2123C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502545	0.96371	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.66638	-0.22	5.89	5.89	0.94794	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91777	0.5432	10	0.87932	D	0	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	708;708;708	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	V	708	ENSP00000288368:A708V	ENSP00000288368:A708V	A	+	2	0	PREX2	69165377	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	7.555000	0.82223	2.788000	0.95919	0.585000	0.79938	GCT		0.368	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		54	63	0	0	0	1	0	54	63				
KANK1	23189	broad.mit.edu	37	9	711931	711931	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:711931T>C	ENST00000382303.1	+	7	1817	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P	KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	389	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.S231P(2)|p.S389P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGTGAGGCCTCCTCAGAGCT	0.577																																						ENST00000382303.1																			3	Substitution - Missense(3)	p.S231P(2)|p.S389P(1)	prostate(3)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(1165-1167)Tcc>Ccc		KN motif and ankyrin repeat domains 1							69.0	56.0	60.0					9																	711931		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:711931T>C	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1165T>C	9.37:g.711931T>C	ENSP00000371740:p.Ser389Pro					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P	p.S389P	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	1817	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	389					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1165T>C	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	T	6.713	0.500272	0.12762	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.00912	5.55;5.55;5.55	5.93	-7.75	0.01236	.	1.447460	0.04025	N	0.300354	T	0.00496	0.0016	N	0.05230	-0.09	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.49606	-0.8922	10	0.21540	T	0.41	0.5162	1.5318	0.02537	0.2772:0.2171:0.3512:0.1545	.	389;389	Q5W0W1;Q14678	.;KANK1_HUMAN	P	389;389;389;231	ENSP00000371740:S389P;ENSP00000371734:S389P;ENSP00000371730:S231P	ENSP00000346479:S389P	S	+	1	0	KANK1	701931	0.000000	0.05858	0.039000	0.18376	0.504000	0.33889	-1.394000	0.02518	-0.912000	0.03837	0.533000	0.62120	TCC		0.577	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		22	68	0	0	0	1	0	22	68				
SALL3	27164	broad.mit.edu	37	18	76754200	76754200	+	Missense_Mutation	SNP	G	G	A	rs147654064		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr18:76754200G>A	ENST00000537592.2	+	2	2209	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	SALL3_ENST00000536229.3_Missense_Mutation_p.V604M|SALL3_ENST00000575389.2_Missense_Mutation_p.V737M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	737					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V737M(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCCTGCGCGTGCAGCACTC	0.652																																						ENST00000536229.3																			2	Substitution - Missense(2)	p.V737M(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1810-1812)Gtg>Atg		spalt-like transcription factor 3		G	MET/VAL	0,4406		0,0,2203	62.0	53.0	57.0		2209	5.3	0.9	18	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SALL3	NM_171999.2	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	737/1301	76754200	2,13004	2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754200G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2209G>A	18.37:g.76754200G>A	ENSP00000441823:p.Val737Met					SALL3_ENST00000537592.2_Missense_Mutation_p.V737M|SALL3_ENST00000575389.2_Missense_Mutation_p.V737M	p.V604M			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2519	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	737					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1810G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579367	0.28180	0.0	2.33E-4	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08807	3.05	5.33	5.33	0.75918	.	0.000000	0.50627	D	0.000101	T	0.18759	0.0450	N	0.26042	0.785	0.80722	D	1	P;D	0.89917	0.763;1.0	B;D	0.71184	0.269;0.972	T	0.02431	-1.1160	10	0.40728	T	0.16	-42.7284	19.053	0.93053	0.0:0.0:1.0:0.0	.	469;737	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	737;737;469	ENSP00000441823:V737M	ENSP00000299466:V737M	V	+	1	0	SALL3	74855188	1.000000	0.71417	0.914000	0.36105	0.690000	0.40134	7.905000	0.87416	2.499000	0.84300	0.655000	0.94253	GTG		0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		28	21	0	0	0	1	0	28	21				
PARK2	5071	broad.mit.edu	37	6	161969991	161969991	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:161969991C>A	ENST00000366898.1	-	9	1080	c.978G>T	c.(976-978)caG>caT	p.Q326H	PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	326					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.Q326H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CGCCCCCCATCTGCAGGACAC	0.577																																						ENST00000366898.1																			1	Substitution - Missense(1)	p.Q326H(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(976-978)caG>caT		parkin RBR E3 ubiquitin protein ligase							68.0	60.0	63.0					6																	161969991		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161969991C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.978G>T	6.37:g.161969991C>A	ENSP00000355865:p.Gln326His					PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H	p.Q326H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1080	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	326					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.978G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492333	0.44352	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.72	1.24	0.21308	Zinc finger, C6HC-type (1);	0.217169	0.39615	N	0.001318	D	0.90501	0.7024	M	0.76002	2.32	0.30639	N	0.756641	B;D;B;B;B	0.67145	0.029;0.996;0.23;0.23;0.074	B;D;B;B;B	0.66979	0.032;0.948;0.142;0.142;0.079	D	0.85728	0.1329	10	0.66056	D	0.02	.	7.9271	0.29880	0.0:0.6567:0.1197:0.2237	.	345;177;298;326;135	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	H	326;298;177;135;135;135;326	ENSP00000355865:Q326H;ENSP00000355863:Q298H;ENSP00000355862:Q177H;ENSP00000355860:Q135H;ENSP00000343589:Q135H;ENSP00000355858:Q326H	ENSP00000343589:Q135H	Q	-	3	2	PARK2	161889981	1.000000	0.71417	0.993000	0.49108	0.790000	0.44656	1.154000	0.31688	0.296000	0.22592	0.650000	0.86243	CAG		0.577	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			60	150	1	0	1.31726e-23	1	1.47094e-23	60	150				
UBE4B	10277	broad.mit.edu	37	1	10231330	10231330	+	Silent	SNP	G	G	A	rs142901446		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:10231330G>A	ENST00000253251.8	+	24	3920	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T	UBE4B_ENST00000343090.6_Silent_p.T1156T|UBE4B_ENST00000377157.3_Silent_p.T911T					ubiquitination factor E4B									p.T1027T(1)|p.T1156T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACCAACTGACGGATATTTACT	0.478																																						ENST00000377157.3																			2	Substitution - coding silent(2)	p.T1027T(1)|p.T1156T(1)	prostate(2)	NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2731-2733)acG>acA		ubiquitination factor E4B		G	,	1,4405	2.1+/-5.4	0,1,2202	129.0	128.0	128.0		3468,3081	-9.4	0.4	1	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UBE4B	NM_001105562.2,NM_006048.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1156/1303,1027/1174	10231330	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10231330G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3081G>A	1.37:g.10231330G>A						UBE4B_ENST00000253251.8_Silent_p.T1027T|UBE4B_ENST00000343090.6_Silent_p.T1156T	p.T911T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	24	3794	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1156						Silent	SNP	ENST00000253251.8	37	c.2733G>A	CCDS110.1																																																																																				0.478	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		81	232	0	0	0	1	0	81	232				
GRHL2	79977	broad.mit.edu	37	8	102570788	102570788	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:102570788C>A	ENST00000251808.3	+	4	764	c.426C>A	c.(424-426)agC>agA	p.S142R	GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	142					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S142R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACAGCATCAGCTTCCCCGAGA	0.517																																						ENST00000251808.3																			1	Substitution - Missense(1)	p.S142R(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(424-426)agC>agA		grainyhead-like 2 (Drosophila)							128.0	125.0	126.0					8																	102570788		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102570788C>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.426C>A	8.37:g.102570788C>A	ENSP00000251808:p.Ser142Arg					GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R	p.S142R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		4	764	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		142					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.426C>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	4.394	0.072747	0.08436	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11930	2.73;2.74	5.1	2.95	0.34219	.	1.060780	0.07091	N	0.838699	T	0.14614	0.0353	L	0.54323	1.7	0.09310	N	1	B;P	0.36465	0.181;0.554	B;B	0.31337	0.074;0.128	T	0.24870	-1.0148	10	0.62326	D	0.03	-2.1926	8.6137	0.33817	0.0:0.7126:0.0:0.2874	.	142;142	B4DL28;Q6ISB3	.;GRHL2_HUMAN	R	142;126;142	ENSP00000251808:S142R;ENSP00000379260:S126R	ENSP00000251808:S142R	S	+	3	2	GRHL2	102639964	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.149000	0.16243	1.149000	0.42402	0.637000	0.83480	AGC		0.517	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		70	235	1	0	4.09166e-32	1	4.89538e-32	70	235				
IQGAP1	8826	broad.mit.edu	37	15	91016148	91016148	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:91016148T>A	ENST00000268182.5	+	19	2379	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	752	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.L752Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCACCAGGCTGCAGGCTCGC	0.498																																						ENST00000268182.5																			1	Substitution - Missense(1)	p.L752Q(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2254-2256)cTg>cAg		IQ motif containing GTPase activating protein 1							102.0	103.0	102.0					15																	91016148		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91016148T>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2255T>A	15.37:g.91016148T>A	ENSP00000268182:p.Leu752Gln					IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q	p.L752Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		19	2379	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		752			IQ 1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.2255T>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	T	32	5.172805	0.94807	.	.	ENSG00000140575	ENST00000268182	T	0.32988	1.43	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000004	T	0.62829	0.2460	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70252	-0.4923	10	0.87932	D	0	-17.0613	15.7258	0.77756	0.0:0.0:0.0:1.0	.	752	P46940	IQGA1_HUMAN	Q	752	ENSP00000268182:L752Q	ENSP00000268182:L752Q	L	+	2	0	IQGAP1	88817152	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.927000	0.87577	2.311000	0.77944	0.533000	0.62120	CTG		0.498	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		63	123	0	0	0	1	0	63	123				
RBP3	5949	broad.mit.edu	37	10	48390797	48390797	+	Silent	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:48390797C>A	ENST00000224600.4	-	1	194	c.81G>T	c.(79-81)ctG>ctT	p.L27L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	27	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.L27L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTCCAGCACCAGGCTTGGCT	0.602																																						ENST00000224600.4																			1	Substitution - coding silent(1)	p.L27L(1)	prostate(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(79-81)ctG>ctT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						45.0	42.0	43.0					10																	48390797		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390797C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.81G>T	10.37:g.48390797C>A							p.L27L	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	194	-			27			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.81G>T	CCDS7218.1																																																																																				0.602	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		23	64	1	0	4.7796e-09	1	5.12374e-09	23	64				
CRTAC1	55118	broad.mit.edu	37	10	99655149	99655149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:99655149G>A	ENST00000370597.3	-	11	1694	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.R447*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.R447*	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	447						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R447*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCACCACTCGCAGCCAGTTG	0.642																																						ENST00000370597.3																			1	Substitution - Nonsense(1)	p.R447*(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1339-1341)Cga>Tga		cartilage acidic protein 1							57.0	54.0	55.0					10																	99655149		2203	4300	6503	SO:0001587	stop_gained	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99655149G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1339C>T	10.37:g.99655149G>A	ENSP00000359629:p.Arg447*					CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.R447*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.R447*	p.R447*	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	11	1694	-		Colorectal(252;0.24)	447					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Nonsense_Mutation	SNP	ENST00000370597.3	37	c.1339C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	41	8.840426	0.98974	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	.	.	.	5.06	3.15	0.36227	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8142	12.9715	0.58515	0.0:0.0:0.5769:0.4231	.	.	.	.	X	343;447;447;439;447	.	ENSP00000298819:R447X	R	-	1	2	CRTAC1	99645139	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	4.554000	0.60760	0.491000	0.27793	0.462000	0.41574	CGA		0.642	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		42	93	0	0	0	1	0	42	93				
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	lincRNA	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:1593386A>C	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTGGCCATTCACGTGCCTCAG	0.597																																						ENST00000436493.2																			0																																																			0							g.chr5:1593386A>C																													5.37:g.1593386A>C														0	239	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.597	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	89	0	0	0	1	0	4	89				
COL8A2	1296	broad.mit.edu	37	1	36563769	36563770	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:36563769_36563770insC	ENST00000397799.1	-	4	1736_1737	c.1512_1513insG	c.(1510-1515)gggcccfs	p.P505fs	COL8A2_ENST00000303143.4_Frame_Shift_Ins_p.P505fs|COL8A2_ENST00000481785.1_Frame_Shift_Ins_p.P440fs			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	505	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCCGTGGGCCCAGCCGTGC	0.762																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1510-1515)ggccacfs		collagen, type VIII, alpha 2																																				SO:0001589	frameshift_variant	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563769_36563770insC	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1513dupG	1.37:g.36563772_36563772dupC	ENSP00000380901:p.Pro505fs					COL8A2_ENST00000481785.1_Frame_Shift_Ins_p.H440fs|COL8A2_ENST00000303143.4_Frame_Shift_Ins_p.H505fs	p.H505fs			P25067	CO8A2_HUMAN			4	1736_1737	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	505			Triple-helical region.		Q5JV31|Q8TEJ5	Frame_Shift_Ins	INS	ENST00000397799.1	37	c.1512_1513insG	CCDS403.1																																																																																				0.762	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		4	8						4	8	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						ENST00000313860.7																			2	Deletion - Frameshift(2)	p.E810fs*3(1)|p.E425fs*3(1)	ovary(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1261-1266)cggafs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648508_41648509delGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs					LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs	p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1317_1318	+			421					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.1263_1264delGA	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		7	253						7	253	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124350061	124350065	+	Splice_Site	DEL	ACTTC	ACTTC	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124350061_124350065delACTTC	ENST00000287394.5	-	21	2962	c.2855delGAAGT	c.(2854-2856)gga>ga	p.G952fs	ATAD2_ENST00000521903.1_Splice_Site_p.G270fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	952					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCCTGCAAAACTTCACATGAATGG	0.41																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.e21-1		ATPase family, AAA domain containing 2																																				SO:0001630	splice_region_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124350061_124350065delACTTC	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2855-1GAAGT>-	8.37:g.124350061_124350065delACTTC						ATAD2_ENST00000521903.1_Splice_Site_p.270_splice	p.952_splice	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		21	2962	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		952					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Splice_Site	DEL	ENST00000287394.5	37	c.2854_splice	CCDS6343.1																																																																																				0.410	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	Frame_Shift_Del	18	130						18	130	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)aagfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1585-1587)agfs		collagen, type XXII, alpha 1							251.0	246.0	248.0					8																	139809072		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139809072delT	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1586delA	8.37:g.139809072delT	ENSP00000303153:p.Lys529fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		12	2032	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		529			Collagen-like 2.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.1586delA	CCDS6376.1																																																																																				0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	785						7	785	---	---	---	---
RNASEH2C	84153	broad.mit.edu	37	11	65487262	65487273	+	In_Frame_Del	DEL	CGGGCACCTGTG	CGGGCACCTGTG	-	rs560684217		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:65487262_65487273delCGGGCACCTGTG	ENST00000308418.4	-	4	664_675	c.476_487delCACAGGTGCCCG	c.(475-489)gcacaggtgcccgag>gag	p.AQVP159del	RNASEH2C_ENST00000527610.1_In_Frame_Del_p.237_241RTGAR>R|RNASEH2C_ENST00000528220.1_In_Frame_Del_p.AQVP76del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	159					RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)				cervix(1)	1						TCTCAGTCCTCGGGCACCTGTGCGTGAATCTG	0.528																																						ENST00000308418.4																			0				cervix(1)	1						c.(475-489)gag>g		ribonuclease H2, subunit C																																				SO:0001651	inframe_deletion	84153				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr11:65487262_65487273delCGGGCACCTGTG	AF312034	CCDS8111.1	11q13.1	2014-09-17							24116	protein-coding gene	gene with protein product	"""Aicardi-Goutieres syndrome 3"""	610330				8244390, 16845400	Standard	NM_032193		Approved	AYP1, AGS3	uc001ofn.3	Q8TDP1		ENST00000308418.4:c.476_487delCACAGGTGCCCG	11.37:g.65487262_65487273delCGGGCACCTGTG	ENSP00000308193:p.Ala159_Pro162del					RNASEH2C_ENST00000527610.1_In_Frame_Del_p.RTGAR237del|RNASEH2C_ENST00000528220.1_In_Frame_Del_p.AQVPE76del	p.AQVPE159del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN			4	664_675	-			159					Q9H7F5	In_Frame_Del	DEL	ENST00000308418.4	37	c.476_487delCACAGGTGCCCG	CCDS8111.1																																																																																				0.528	RNASEH2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390693.2	NM_032193		15	81						15	81	---	---	---	---
C12orf57	113246	broad.mit.edu	37	12	7053872	7053877	+	Intron	DEL	GAGGGC	GAGGGC	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:7053872_7053877delGAGGGC	ENST00000229281.5	+	2	328				RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000537087.1_Intron|U47924.31_ENST00000607421.1_RNA|PTPN6_ENST00000399448.1_5'Flank|PTPN6_ENST00000447931.2_5'Flank|C12orf57_ENST00000540506.2_Intron|C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000544681.1_In_Frame_Del_p.EG96del	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57							cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						TGGGTCGGGAGAGGGCGCCGGATCTG	0.636											OREG0011073|OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																										ENST00000544681.1																			0				kidney(1)|large_intestine(1)	2						c.(286-291)del		chromosome 12 open reading frame 57																																				SO:0001627	intron_variant	113246							g.chr12:7053872_7053877delGAGGGC	U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.229+57GAGGGC>-	12.37:g.7053872_7053877delGAGGGC			OREG0011073|OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	638	C12orf57_ENST00000540506.2_Intron|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000542222.1_Intron	p.EG96del			Q99622	C10_HUMAN			2	591_596	+			0					B2R4Q6	In_Frame_Del	DEL	ENST00000229281.5	37	c.286_291delGAGGGC	CCDS8571.1																																																																																				0.636	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		13	62						13	62	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32906912	32906912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:32906912delA	ENST00000380152.3	+	10	1530	c.1297delA	c.(1297-1299)aacfs	p.N433fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.N433fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	433					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGACACAGAGAACAAAAGAAA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1297-1299)acfs	Homologous recombination	breast cancer 2, early onset							80.0	96.0	91.0					13																	32906912		2201	4296	6497	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32906912delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1297delA	13.37:g.32906912delA	ENSP00000369497:p.Asn433fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.N433fs	p.N433fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1524	+		Lung SC(185;0.0262)	433					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.1297delA	CCDS9344.1																																																																																				0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		82	149						82	149	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51322517	51322527	+	Frame_Shift_Del	DEL	GGCTTATTGGG	GGCTTATTGGG	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:51322517_51322527delGGCTTATTGGG	ENST00000301420.2	-	5	747_757	c.712_722delCCCAATAAGCC	c.(712-723)cccaataagcctfs	p.PNKP238fs	KLK1_ENST00000448701.2_Frame_Shift_Del_p.PNKP136fs|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GGCGACAGAAGGCTTATTGGGGGTGCCACAA	0.583																																						ENST00000448701.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(406-417)tfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51322517_51322527delGGCTTATTGGG	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.712_722delCCCAATAAGCC	19.37:g.51322517_51322527delGGCTTATTGGG	ENSP00000301420:p.Pro238fs					KLK1_ENST00000301420.2_Frame_Shift_Del_p.PNKP238fs	p.PNKP136fs			P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	6	1730_1740	-		all_neural(266;0.0199)	238			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Del	DEL	ENST00000301420.2	37	c.406_416delCCCAATAAGCC	CCDS12804.1																																																																																				0.583	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		13	147						13	147	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25246361	25246381	+	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	CCTGGACAAAATTGTGCATTA	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA	ENST00000400359.4	+	5	424_444	c.417_437delCCTGGACAAAATTGTGCATTA	c.(415-438)gtcctggacaaaattgtgcattac>gtc	p.LDKIVHY140del	SGSM1_ENST00000400358.4_In_Frame_Del_p.LDKIVHY140del	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	140	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGAGAAGGTCCTGGACAAAATTGTGCATTACCTTGTGGAA	0.557											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(415-438)gtc>gt		small G protein signaling modulator 1																																				SO:0001651	inframe_deletion	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.417_437delCCTGGACAAAATTGTGCATTA	22.37:g.25246361_25246381delCCTGGACAAAATTGTGCATTA	ENSP00000383212:p.Leu140_Tyr146del		OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	SGSM1_ENST00000400359.4_In_Frame_Del_p.VLDKIVHY139del	p.VLDKIVHY139del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			5	474_494	+			139			RUN.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	In_Frame_Del	DEL	ENST00000400359.4	37	c.417_437delCCTGGACAAAATTGTGCATTA	CCDS46674.1																																																																																				0.557	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		7	36						7	36	---	---	---	---
