#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_match_norm_validation_allele1	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_tumor_sample
PIK3CD	5293	broad.mit.edu	37	1	9775949	9775949	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:9775949A>G	ENST00000377346.4	+	5	608	c.413A>G	c.(412-414)gAc>gGc	p.D138G	PIK3CD_ENST00000361110.2_Missense_Mutation_p.D138G|PIK3CD_ENST00000536656.1_Missense_Mutation_p.D138G|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	138					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GAAGTGAACGACTTTCGCGCC	0.687																																						uc001aqb.3		NaN																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(412-414)GAC>GGC		catalytic phosphatidylinositol 3-kinase delta							18.0	19.0	19.0					1																	9775949		2201	4299	6500	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775949A>G		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.413A>G	1.37:g.9775949A>G	ENSP00000366563:p.Asp138Gly					PIK3CD_uc010oaf.1_Missense_Mutation_p.D138G|PIK3CD_uc001aqe.3_Missense_Mutation_p.D138G	p.D138G	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	5	621	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	138					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.413A>G	CCDS104.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967959	0.53507	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.48201	0.82;0.82;0.82	5.7	5.7	0.88788	.	0.045776	0.85682	D	0.000000	T	0.58552	0.2130	M	0.68952	2.095	0.80722	D	1	P;P;B	0.51791	0.57;0.948;0.275	B;P;B	0.50791	0.279;0.65;0.19	T	0.63594	-0.6602	10	0.72032	D	0.01	-59.0551	15.9765	0.80071	1.0:0.0:0.0:0.0	.	138;138;138	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	G	138	ENSP00000446444:D138G;ENSP00000366563:D138G;ENSP00000354410:D138G	ENSP00000353766:D138G	D	+	2	0	PIK3CD	9698536	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.092000	0.76930	2.172000	0.68678	0.533000	0.62120	GAC		0.687	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1		NM_005026		9	38	0	0	0	0.047766	0	9	38		
FBXO42	54455	broad.mit.edu	37	1	16579618	16579618	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:16579618G>A	ENST00000375592.3	-	8	1110	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	298										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACCCTCCGAGGATTAAGATAG	0.438																																						uc001ayg.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(892-894)ATC>ATT		F-box protein 42							68.0	61.0	63.0					1																	16579618		2203	4300	6503	SO:0001819	synonymous_variant	54455							g.chr1:16579618G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.894C>T	1.37:g.16579618G>A						FBXO42_uc001aye.3_Silent_p.I16I|FBXO42_uc001ayf.2_Silent_p.I205I	p.I298I	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	8	1110	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	298			Kelch 4.		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	ENST00000375592.3	37	c.894C>T	CCDS30613.1																																																																																				0.438	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1				41	16	0	0	0	0.124865	0	41	16		
HSPG2	3339	broad.mit.edu	37	1	22202880	22202880	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:22202880C>T	ENST00000374695.3	-	23	2924	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	949	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGACCAGGCTCCTCAGAGGCC	0.667																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(2845-2847)GAG>AAG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						42.0	38.0	40.0					1																	22202880		2202	4300	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22202880C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2845G>A	1.37:g.22202880C>T	ENSP00000363827:p.Glu949Lys					HSPG2_uc009vqd.2_Missense_Mutation_p.E950K	p.E949K	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	23	2885	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	949			Laminin IV type A 2.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2845G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	0.267	-0.995427	0.02145	.	.	ENSG00000142798	ENST00000374695	T	0.75477	-0.94	4.92	1.95	0.26073	Laminin B type IV (1);	1.182360	0.06536	N	0.742456	T	0.62841	0.2461	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.42103	-0.9471	10	0.19590	T	0.45	.	6.6863	0.23146	0.0:0.6806:0.1513:0.1681	.	949	P98160	PGBM_HUMAN	K	949	ENSP00000363827:E949K	ENSP00000363827:E949K	E	-	1	0	HSPG2	22075467	0.950000	0.32346	0.122000	0.21767	0.003000	0.03518	1.222000	0.32515	0.121000	0.18284	-1.069000	0.02264	GAG		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		4	16	0	0	0	0.009096	0	4	16		
MACF1	23499	broad.mit.edu	37	1	39799983	39799983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:39799983C>T	ENST00000372915.3	+	36	7825	c.7738C>T	c.(7738-7740)Cag>Tag	p.Q2580*	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Nonsense_Mutation_p.Q2575*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q1015*|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q2612*|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2580					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGAAATCCAGGAGGTTCA	0.378																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3043-3045)CAG>TAG		microfilament and actin filament cross-linker							61.0	64.0	63.0					1																	39799983		2201	4299	6500	SO:0001587	stop_gained	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799983C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7738C>T	1.37:g.39799983C>T	ENSP00000362006:p.Gln2580*					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.Q1015*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3174	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2580					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.3043C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.838258	0.97877	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	.	.	.	4.8	4.8	0.61643	.	0.326553	0.26470	N	0.024184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.5143	0.50511	0.0:0.9184:0.0:0.0816	.	.	.	.	X	2580;1015	.	ENSP00000289893:Q1015X	Q	+	1	0	MACF1	39572570	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	5.552000	0.67281	2.494000	0.84150	0.561000	0.74099	CAG		0.378	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		92	39	0	0	0	0.139131	0	92	39		
MACF1	23499	broad.mit.edu	37	1	39838193	39838193	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:39838193G>A	ENST00000372915.3	+	51	13240	c.13153G>A	c.(13153-13155)Gaa>Aaa	p.E4385K	MACF1_ENST00000545844.1_Missense_Mutation_p.E2318K|MACF1_ENST00000317713.7_Missense_Mutation_p.E2318K|MACF1_ENST00000564288.1_Missense_Mutation_p.E4380K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2820K|MACF1_ENST00000361689.2_Missense_Mutation_p.E2318K|MACF1_ENST00000567887.1_Missense_Mutation_p.E4417K|MACF1_ENST00000539005.1_Missense_Mutation_p.E2318K|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4385					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGGTGGAAGAAATCAATTG	0.403																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(8458-8460)GAA>AAA		microfilament and actin filament cross-linker							77.0	77.0	77.0					1																	39838193		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39838193G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13153G>A	1.37:g.39838193G>A	ENSP00000362006:p.Glu4385Lys					MACF1_uc010ois.1_Missense_Mutation_p.E2318K|MACF1_uc001cda.1_Missense_Mutation_p.E2226K|MACF1_uc001cdc.1_Missense_Mutation_p.E1405K|MACF1_uc001cdb.1_Missense_Mutation_p.E1405K	p.E2820K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		16	8589	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4385					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8458G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.532702|4.532702	0.85812|0.85812	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37;1.37;1.37|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.105490|.	0.41294|.	D|.	0.000918|.	T|T	0.65512|0.65512	0.2698|0.2698	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;B;D;B|.	0.76494|.	0.999;0.189;0.999;0.332|.	D;B;D;B|.	0.91635|.	0.999;0.219;0.989;0.279|.	T|T	0.58498|0.58498	-0.7626|-0.7626	10|5	0.07030|.	T|.	0.85|.	.|.	20.2786|20.2786	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4385;2318;2318;2283|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	K|K	2318;4385;2318;2318;2318;2820|1451	ENSP00000439537:E2318K;ENSP00000362006:E4385K;ENSP00000354573:E2318K;ENSP00000313438:E2318K;ENSP00000444364:E2318K;ENSP00000289893:E2820K|.	ENSP00000289893:E2820K|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39610780|39610780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	8.447000|8.447000	0.90332|0.90332	2.798000|2.798000	0.96311|0.96311	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		22	59	0	0	0	0.055883	0	22	59		
STIL	6491	broad.mit.edu	37	1	47767248	47767248	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:47767248G>A	ENST00000360380.3	-	6	801	c.438C>T	c.(436-438)ttC>ttT	p.F146F	STIL_ENST00000371877.3_Silent_p.F146F|STIL_ENST00000396221.2_Silent_p.F146F|STIL_ENST00000337817.5_Silent_p.F146F|STIL_ENST00000243182.6_Silent_p.F146F	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	146					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AAGCTGAACTGAAGTCATCTA	0.348																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(436-438)TTC>TTT		SCL/TAL1 interrupting locus isoform 2							87.0	88.0	87.0					1																	47767248		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47767248G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.438C>T	1.37:g.47767248G>A						TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.F146F|STIL_uc010omo.1_Silent_p.F146F|STIL_uc001crd.1_Silent_p.F146F|STIL_uc001cre.1_Silent_p.F146F|STIL_uc001crg.1_Silent_p.F146F	p.F146F	NM_003035	NP_003026	Q15468	STIL_HUMAN			5	593	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	146					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.438C>T	CCDS548.1																																																																																				0.348	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		46	29	0	0	0	0.139131	0	46	29		
FOXE3	2301	broad.mit.edu	37	1	47882467	47882467	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:47882467C>T	ENST00000335071.2	+	1	724	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	160					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACGGCAGCTTCCTGCGGCGCC	0.746																																						uc001crk.2		NaN																	0					0						c.(478-480)TTC>TTT		forkhead box E3							18.0	22.0	21.0					1																	47882467		2198	4289	6487	SO:0001819	synonymous_variant	2301				cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	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.chr1:47882467C>T	AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.480C>T	1.37:g.47882467C>T							p.F160F	NM_012186	NP_036318	Q13461	FOXE3_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	724	+			160			Fork-head.		Q5SVY9|Q9NQV9	Silent	SNP	ENST00000335071.2	37	c.480C>T	CCDS550.1																																																																																				0.746	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021836.1		NM_012186		35	21	0	0	0	0.064281	0	35	21		
INADL	10207	broad.mit.edu	37	1	62263087	62263087	+	Silent	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:62263087A>G	ENST00000371158.2	+	11	1503	c.1389A>G	c.(1387-1389)ccA>ccG	p.P463P	INADL_ENST00000316485.6_Silent_p.P463P	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	463					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CACTTGAACCACCTTCAGACA	0.448																																						uc001dab.2		NaN																	0				ovary(3)|skin(1)	4						c.(1387-1389)CCA>CCG		InaD-like							195.0	179.0	184.0					1																	62263087		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62263087A>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1389A>G	1.37:g.62263087A>G						INADL_uc009waf.1_Silent_p.P463P|INADL_uc001daa.2_Silent_p.P463P|INADL_uc001dad.3_Silent_p.P160P	p.P463P	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			11	1503	+			463					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.1389A>G	CCDS617.2																																																																																				0.448	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605		122	58	0	0	0	0.139131	0	122	58		
IL23R	149233	broad.mit.edu	37	1	67666436	67666436	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:67666436G>A	ENST00000347310.5	+	5	679	c.508G>A	c.(508-510)Gag>Aag	p.E170K	IL23R_ENST00000371002.1_Missense_Mutation_p.E170K|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	170	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GACAGAAGAAGAGCAACAGTA	0.383																																						uc001ddo.2		NaN																	0					0						c.(508-510)GAG>AAG		interleukin 23 receptor precursor							104.0	101.0	102.0					1																	67666436		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67666436G>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.508G>A	1.37:g.67666436G>A	ENSP00000321345:p.Glu170Lys					IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Missense_Mutation_p.E127K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Missense_Mutation_p.E15K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.E29K|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Missense_Mutation_p.E29K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Intron|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Missense_Mutation_p.E29K|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Missense_Mutation_p.E29K|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_Intron|IL23R_uc010oqf.1_Intron|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron	p.E170K	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			5	593	+			170			Extracellular (Potential).|Fibronectin type-III 1.		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.508G>A	CCDS637.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084375	0.55861	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000416525;ENST00000540911;ENST00000371002;ENST00000543799	T;T	0.08720	3.06;3.06	5.95	3.0	0.34707	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.332776	0.32161	N	0.006498	T	0.05456	0.0144	L	0.31664	0.95	0.80722	D	1	P;P;P;P;P;P;P	0.51351	0.51;0.944;0.51;0.649;0.818;0.617;0.944	B;P;B;B;B;B;P	0.53146	0.273;0.719;0.273;0.273;0.311;0.308;0.651	T	0.39800	-0.9596	10	0.24483	T	0.36	-22.6613	14.4759	0.67546	0.0:0.4205:0.5795:0.0	.	24;29;29;24;77;170;170	B6HY71;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-3;Q5VWK5	.;.;.;.;.;.;IL23R_HUMAN	K	170;29;29;29;29;170;125	ENSP00000321345:E170K;ENSP00000360041:E170K	ENSP00000321345:E170K	E	+	1	0	IL23R	67439024	1.000000	0.71417	0.944000	0.38274	0.964000	0.63967	1.270000	0.33086	0.376000	0.24707	0.655000	0.94253	GAG		0.383	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2		NM_144701		54	29	0	0	0	0.139131	0	54	29		
IL23R	149233	broad.mit.edu	37	1	67666498	67666498	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:67666498G>A	ENST00000347310.5	+	5	741	c.570G>A	c.(568-570)aaG>aaA	p.K190K	IL23R_ENST00000371002.1_Silent_p.K190K|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	190	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAGGTGGCAAGAAGTACTTGG	0.373																																						uc001ddo.2		NaN																	0					0						c.(568-570)AAG>AAA		interleukin 23 receptor precursor							139.0	138.0	138.0					1																	67666498		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67666498G>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.570G>A	1.37:g.67666498G>A						IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Silent_p.K147K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Silent_p.K35K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Silent_p.K49K|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Silent_p.K49K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Silent_p.K49K|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Silent_p.K49K|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron	p.K190K	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			5	655	+			190			Extracellular (Potential).|Fibronectin type-III 1.		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.570G>A	CCDS637.1																																																																																				0.373	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2		NM_144701		80	44	0	0	0	0.139131	0	80	44		
FUBP1	8880	broad.mit.edu	37	1	78429366	78429366	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:78429366C>T	ENST00000370768.2	-	13	1157	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	FUBP1_ENST00000370767.1_Missense_Mutation_p.R359Q|FUBP1_ENST00000436586.2_Missense_Mutation_p.R380Q	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	359	Gly-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACCTCTTCCTCGACCACCAGG	0.428			"""F, N"""		oligodendroglioma																																	uc001dii.2		NaN		Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					0				central_nervous_system(2)|lung(1)	3						c.(1075-1077)CGA>CAA		far upstream element-binding protein							69.0	66.0	67.0					1																	78429366		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429366C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1076G>A	1.37:g.78429366C>T	ENSP00000359804:p.Arg359Gln					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.R380Q	p.R359Q	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			13	1165	-			359			Gly-rich.		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.1076G>A	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445980	0.96187	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.45276	0.9;0.9;0.9	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	N	0.25485	0.75	0.80722	D	1	D;P	0.89917	1.0;0.807	D;B	0.66716	0.946;0.266	T	0.11251	-1.0595	10	0.28530	T	0.3	-14.7981	20.2241	0.98333	0.0:1.0:0.0:0.0	.	380;359	B4DT31;Q96AE4	.;FUBP1_HUMAN	Q	358;359;359;358;380	ENSP00000359803:R359Q;ENSP00000359804:R359Q;ENSP00000389536:R380Q	ENSP00000294623:R358Q	R	-	2	0	FUBP1	78201954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.785000	0.95823	0.655000	0.94253	CGA		0.428	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3		NM_003902		26	41	0	0	0	0.0918	0	26	41		
COL11A1	1301	broad.mit.edu	37	1	103461433	103461433	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:103461433G>C	ENST00000370096.3	-	28	2639	c.2327C>G	c.(2326-2328)tCt>tGt	p.S776C	COL11A1_ENST00000358392.2_Missense_Mutation_p.S788C|COL11A1_ENST00000512756.1_Missense_Mutation_p.S660C|COL11A1_ENST00000353414.4_Missense_Mutation_p.S737C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	776	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCACCTTTAGATCCCTTGAG	0.269																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2326-2328)TCT>TGT		alpha 1 type XI collagen isoform A							77.0	86.0	83.0					1																	103461433		2203	4295	6498	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103461433G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2327C>G	1.37:g.103461433G>C	ENSP00000359114:p.Ser776Cys					COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.S788C|COL11A1_uc001dun.2_Missense_Mutation_p.S737C|COL11A1_uc009weh.2_Missense_Mutation_p.S660C	p.S776C	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	28	2645	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	776			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2327C>G	CCDS778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.49|16.49	3.137138|3.137138	0.56936|0.56936	.|.	.|.	ENSG00000060718|ENSG00000060718	ENST00000370090|ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.|D;D;D;D	.|0.94280	.|-3.39;-3.39;-3.29;-3.29	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.266312	.|0.38272	.|N	.|0.001754	D|D	0.95787|0.95787	0.8629|0.8629	M|M	0.75777|0.75777	2.31|2.31	0.39736|0.39736	D|D	0.971679|0.971679	.|D;D;D;D	.|0.76494	.|0.999;0.993;0.993;0.988	.|D;P;P;P	.|0.87578	.|0.998;0.8;0.8;0.635	D|D	0.95870|0.95870	0.8890|0.8890	6|10	0.87932|0.59425	D|D	0|0.04	.|.	14.5373|14.5373	0.67969|0.67969	0.0:0.2679:0.7321:0.0|0.0:0.2679:0.7321:0.0	.|.	.|660;737;788;776	.|E9PCU0;P12107-3;P12107-2;P12107	.|.;.;.;COBA1_HUMAN	V|C	9|776;788;737;660	.|ENSP00000359114:S776C;ENSP00000351163:S788C;ENSP00000302551:S737C;ENSP00000426533:S660C	ENSP00000359108:L9V|ENSP00000302551:S737C	L|S	-|-	1|2	2|0	COL11A1|COL11A1	103234021|103234021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.041000|2.041000	0.41213|0.41213	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	CTA|TCT		0.269	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		18	119	0	0	0	0.055883	0	18	119		
COL11A1	1301	broad.mit.edu	37	1	103468019	103468019	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:103468019C>G	ENST00000370096.3	-	23	2374	c.2062G>C	c.(2062-2064)Ggg>Cgg	p.G688R	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.G700R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G572R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G649R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	688	Collagen-like 5.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGAGGCCCAGGCTCCCCT	0.423																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2062-2064)GGG>CGG		alpha 1 type XI collagen isoform A							33.0	35.0	34.0					1																	103468019		2199	4299	6498	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103468019C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2062G>C	1.37:g.103468019C>G	ENSP00000359114:p.Gly688Arg					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G700R|COL11A1_uc001dun.2_Missense_Mutation_p.G649R|COL11A1_uc009weh.2_Missense_Mutation_p.G572R	p.G688R	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	23	2380	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	688			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2062G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062053	0.93846	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.94808	3.585	0.80722	D	1	P;D;D;D	0.63046	0.954;0.973;0.992;0.988	P;P;P;D	0.65443	0.726;0.893;0.893;0.935	D	0.97684	1.0174	10	0.72032	D	0.01	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	572;649;700;688	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	R	688;700;649;572	ENSP00000359114:G688R;ENSP00000351163:G700R;ENSP00000302551:G649R;ENSP00000426533:G572R	ENSP00000302551:G649R	G	-	1	0	COL11A1	103240607	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.220000	0.78008	2.937000	0.99478	0.650000	0.86243	GGG		0.423	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		7	7	0	0	0	0.047766	0	7	7		
ATXN7L2	127002	broad.mit.edu	37	1	110031674	110031674	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:110031674C>T	ENST00000369870.3	+	7	1004	c.989C>T	c.(988-990)aCc>aTc	p.T330I		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	330										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCAGCAGCACCTTCTCTGTT	0.617																																						uc001dxr.2		NaN																	0				ovary(2)	2						c.(988-990)ACC>ATC		ataxin 7-like 2							68.0	62.0	64.0					1																	110031674		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110031674C>T	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.989C>T	1.37:g.110031674C>T	ENSP00000358886:p.Thr330Ile					ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank	p.T330I	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	1004	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	330						Missense_Mutation	SNP	ENST00000369870.3	37	c.989C>T	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761436	0.49468	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.33654	1.4	5.97	5.06	0.68205	.	0.092705	0.47852	D	0.000219	T	0.16428	0.0395	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04053	-1.0981	10	0.42905	T	0.14	-7.035	12.4087	0.55455	0.0:0.9214:0.0:0.0786	.	330	Q5T6C5	AT7L2_HUMAN	I	330	ENSP00000358886:T330I	ENSP00000358886:T330I	T	+	2	0	ATXN7L2	109833197	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.373000	0.52394	1.542000	0.49330	0.655000	0.94253	ACC		0.617	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1		NM_153340		87	26	0	0	0	0.139131	0	87	26		
KCNC4	3749	broad.mit.edu	37	1	110766110	110766110	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:110766110C>T	ENST00000369787.3	+	2	1230	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y	KCNC4_ENST00000413138.3_Silent_p.Y401Y|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.Y401Y	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	401					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGATCTACTACGCTGAGCGCA	0.592																																						uc001dzh.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1201-1203)TAC>TAT		Shaw-related voltage-gated potassium channel							87.0	80.0	83.0					1																	110766110		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110766110C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1203C>T	1.37:g.110766110C>T						KCNC4_uc001dzf.2_Silent_p.Y401Y|KCNC4_uc009wfr.2_Silent_p.Y401Y|KCNC4_uc001dzg.2_Silent_p.Y401Y|KCNC4_uc001dzi.2_RNA	p.Y401Y	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	1260	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	401			Helical; Name=Segment S5; (Potential).		Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.1203C>T	CCDS821.1																																																																																				0.592	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2		NM_001039574		35	120	0	0	0	0.064281	0	35	120		
PDZK1	5174	broad.mit.edu	37	1	145747150	145747150	+	Missense_Mutation	SNP	G	G	T	rs376348039		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:145747150G>T	ENST00000344770.2	+	2	180	c.107G>T	c.(106-108)cGg>cTg	p.R36L	PDZK1_ENST00000451928.2_Missense_Mutation_p.R36L|PDZK1_ENST00000417171.1_Missense_Mutation_p.R36L	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	36	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CACCTGGTCCGGGTGGTTGAG	0.502																																						uc001eon.1		NaN																	0					0						c.(106-108)CGG>CTG		PDZ domain containing 1		G	LEU/ARG,LEU/ARG,LEU/ARG	0,4406		0,0,2203	128.0	135.0	133.0		107,107,107	5.8	1.0	1		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PDZK1	NM_001201325.1,NM_001201326.1,NM_002614.4	102,102,102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	36/520,36/409,36/520	145747150	1,13005	2203	4300	6503	SO:0001583	missense	5174				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	g.chr1:145747150G>T	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.107G>T	1.37:g.145747150G>T	ENSP00000342143:p.Arg36Leu					NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Missense_Mutation_p.R36L|PDZK1_uc010oza.1_Missense_Mutation_p.R36L	p.R36L	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		3	204	+	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		36			PDZ 1.		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	ENST00000344770.2	37	c.107G>T	CCDS924.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809661	0.70797	0.0	1.16E-4	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000451928;ENST00000344770	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.83	5.83	0.93111	PDZ/DHR/GLGF (4);	0.109605	0.64402	D	0.000006	T	0.34803	0.0910	N	0.20881	0.62	0.36092	D	0.843555	B;D	0.89917	0.0;1.0	B;D	0.97110	0.005;1.0	T	0.28776	-1.0033	10	0.72032	D	0.01	-4.002	17.6312	0.88108	0.0:0.0:1.0:0.0	.	36;36	E7EU02;Q5T2W1	.;NHRF3_HUMAN	L	36	ENSP00000409291:R36L;ENSP00000394485:R36L;ENSP00000403422:R36L;ENSP00000342143:R36L	ENSP00000342143:R36L	R	+	2	0	PDZK1	144458507	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	9.164000	0.94755	2.763000	0.94921	0.563000	0.77884	CGG		0.502	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2		NM_002614		22	491	1	0	1.10923e-09	0.076483	1.16626e-09	22	491		
BCL9	607	broad.mit.edu	37	1	147095710	147095710	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:147095710C>T	ENST00000234739.3	+	10	3971	c.3231C>T	c.(3229-3231)ctC>ctT	p.L1077L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1077	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGCCAACCCTCAGCCCAATGG	0.493			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NaN		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(3229-3231)CTC>CTT		B-cell CLL/lymphoma 9							155.0	163.0	160.0					1																	147095710		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147095710C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3231C>T	1.37:g.147095710C>T						BCL9_uc010ozr.1_Silent_p.L991L	p.L1077L	NM_004326	NP_004317	O00512	BCL9_HUMAN			10	3971	+	all_hematologic(923;0.115)		1077			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.3231C>T	CCDS30833.1																																																																																				0.493	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1		NM_004326		104	219	0	0	0	0.139131	0	104	219		
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						uc001fmi.1		NaN																	0					0						c.(1336-1338)CAG>CCG		hypothetical protein LOC22889							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q303P|KIAA0907_uc009wrl.1_RNA	p.Q446P	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1361	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1		NM_014949		7	39	0	0	0	0.105934	0	7	39		
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						uc001fqd.2		NaN																	0					0						c.(1066-1068)CAC>CCC		SH2 domain protein 2A isoform 2							16.0	18.0	17.0					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_uc001fqc.1_Missense_Mutation_p.H328P|SH2D2A_uc009wsh.2_Missense_Mutation_p.H366P|SH2D2A_uc001fqe.2_Missense_Mutation_p.H338P|SH2D2A_uc010phs.1_Missense_Mutation_p.H356P	p.H356P	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			8	1207	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1067A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1		NM_003975		5	22	0	0	0	0.080935	0	5	22		
SERPINC1	462	broad.mit.edu	37	1	173881128	173881128	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:173881128C>G	ENST00000367698.3	-	3	551	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	145					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GATGTTTTCTCAGATATGGTG	0.433																																						uc001gjt.2		NaN																	0				ovary(1)	1	GRCh37	CD002477	SERPINC1	D		c.(433-435)GAG>CAG		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						165.0	154.0	158.0					1																	173881128		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173881128C>G	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.433G>C	1.37:g.173881128C>G	ENSP00000356671:p.Glu145Gln						p.E145Q	NM_000488	NP_000479	P01008	ANT3_HUMAN			3	552	-			145					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.433G>C	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938945	0.92526	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82433	-1.61	5.66	5.66	0.87406	Serpin domain (3);	0.464356	0.26804	N	0.022415	D	0.87861	0.6284	M	0.73217	2.22	0.80722	D	1	D	0.57899	0.981	P	0.58620	0.842	D	0.87228	0.2258	10	0.51188	T	0.08	.	19.7525	0.96273	0.0:1.0:0.0:0.0	.	145	P01008	ANT3_HUMAN	Q	145	ENSP00000356671:E145Q	ENSP00000307953:E145Q	E	-	1	0	SERPINC1	172147751	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.487000	0.81328	2.669000	0.90835	0.591000	0.81541	GAG		0.433	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1		NM_000488		43	115	0	0	0	0.09836	0	43	115		
PPP1R12B	4660	broad.mit.edu	37	1	202549682	202549682	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:202549682C>G	ENST00000608999.1	+	24	3096	c.2943C>G	c.(2941-2943)tcC>tcG	p.S981S	PPP1R12B_ENST00000367270.4_3'UTR|PPP1R12B_ENST00000336894.4_Silent_p.S981S|PPP1R12B_ENST00000391959.3_Silent_p.S207S|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	981					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAAACTGTCCAAGTAGGCTA	0.478																																						uc001gya.1		NaN																	0				ovary(3)	3						c.(2941-2943)TCC>TCG		protein phosphatase 1, regulatory (inhibitor)							82.0	75.0	77.0					1																	202549682		2203	4300	6503	SO:0001819	synonymous_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202549682C>G	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2943C>G	1.37:g.202549682C>G						PPP1R12B_uc001gxz.1_3'UTR|PPP1R12B_uc001gyb.1_3'UTR|PPP1R12B_uc001gyc.1_Silent_p.S207S	p.S981S	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		24	3087	+			981					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	ENST00000608999.1	37	c.2943C>G	CCDS1426.1																																																																																				0.478	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3		NM_032105		44	28	0	0	0	0.104719	0	44	28		
ZC3H11A	9877	broad.mit.edu	37	1	203798669	203798669	+	Missense_Mutation	SNP	A	A	G	rs377447184		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:203798669A>G	ENST00000545588.1	+	5	4216	c.389A>G	c.(388-390)aAt>aGt	p.N130S	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.N130S|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.N130S|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.N130S|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.N130S	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	130					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCAGTCCAATCCTTCCCCT	0.483																																						uc001hac.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(388-390)AAT>AGT		zinc finger CCCH-type containing 11A		A	SER/ASN	0,4406		0,0,2203	85.0	84.0	84.0		389	5.9	1.0	1		84	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZC3H11A	NM_014827.4	46	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	130/811	203798669	1,12999	2203	4297	6500	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203798669A>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.389A>G	1.37:g.203798669A>G	ENSP00000438527:p.Asn130Ser					ZC3H11A_uc001had.2_Missense_Mutation_p.N130S|ZC3H11A_uc001hae.2_Missense_Mutation_p.N130S|ZC3H11A_uc001haf.2_Missense_Mutation_p.N130S|ZC3H11A_uc010pqm.1_Missense_Mutation_p.N76S|ZC3H11A_uc001hag.1_Missense_Mutation_p.N130S	p.N130S	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		8	1005	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		130					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.389A>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.805322	0.70682	0.0	1.16E-4	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.87	5.87	0.94306	.	0.216774	0.48286	D	0.000186	T	0.52677	0.1749	L	0.44542	1.39	0.45035	D	0.99805	D	0.67145	0.996	P	0.62813	0.907	T	0.46693	-0.9173	10	0.09084	T	0.74	-13.2525	11.5421	0.50672	0.8506:0.1494:0.0:0.0	.	130	O75152	ZC11A_HUMAN	S	130;130;76;130;130;130;130	ENSP00000356183:N130S;ENSP00000356181:N130S;ENSP00000333253:N130S;ENSP00000438527:N130S;ENSP00000356179:N130S	ENSP00000333253:N130S	N	+	2	0	ZC3H11A	202065292	0.998000	0.40836	0.971000	0.41717	0.981000	0.71138	4.700000	0.61803	2.371000	0.80710	0.533000	0.62120	AAT		0.483	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3		NM_014827		121	55	0	0	0	0.139131	0	121	55		
CENPF	1063	broad.mit.edu	37	1	214825065	214825065	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:214825065G>C	ENST00000366955.3	+	15	8164	c.7996G>C	c.(7996-7998)Gag>Cag	p.E2666Q	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2762	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCAATTGAAGGAGCTCACACT	0.348																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(7996-7998)GAG>CAG		centromere protein F							65.0	69.0	68.0					1																	214825065		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214825065G>C	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7996G>C	1.37:g.214825065G>C	ENSP00000355922:p.Glu2666Gln						p.E2666Q	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	15	8170	+			2762			Potential.|Sufficient for self-association.|Sufficient for centromere localization.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.7996G>C	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653067	0.29336	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	T	0.03212	4.01	3.72	1.22	0.21188	.	.	.	.	.	T	0.04048	0.0113	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.40459	-0.9562	9	0.36615	T	0.2	.	3.136	0.06439	0.2017:0.2755:0.5228:0.0	.	2762	P49454	CENPF_HUMAN	Q	2666;65	ENSP00000355922:E2666Q	ENSP00000355922:E2666Q	E	+	1	0	CENPF	212891688	0.093000	0.21703	0.005000	0.12908	0.610000	0.37248	0.276000	0.18716	0.648000	0.30732	0.609000	0.83330	GAG		0.348	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		46	20	0	0	0	0.117977	0	46	20		
TMEM63A	9725	broad.mit.edu	37	1	226055673	226055673	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:226055673C>T	ENST00000366835.3	-	7	699	c.429G>A	c.(427-429)caG>caA	p.Q143Q	TMEM63A_ENST00000474478.1_5'Flank|TMEM63A_ENST00000537914.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	143					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGATGTGCCTCTGGAAGGACA	0.542																																						uc001hpm.1		NaN																	0				ovary(1)|breast(1)	2						c.(427-429)CAG>CAA		transmembrane protein 63A							187.0	137.0	154.0					1																	226055673		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226055673C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.429G>A	1.37:g.226055673C>T						TMEM63A_uc010pvi.1_Silent_p.Q143Q	p.Q143Q	NM_014698	NP_055513	O94886	TM63A_HUMAN			7	679	-	Breast(184;0.197)		143					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.429G>A	CCDS31042.1																																																																																				0.542	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2		NM_014698		52	46	0	0	0	0.139131	0	52	46		
ZNF678	339500	broad.mit.edu	37	1	227842637	227842637	+	Missense_Mutation	SNP	G	G	C	rs527431317		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:227842637G>C	ENST00000343776.5	+	4	1031	c.686G>C	c.(685-687)aGa>aCa	p.R229T	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.R284T	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAACATAAGAGAATTCATACT	0.378																																						uc001hqw.1		NaN																	0				pancreas(1)	1						c.(685-687)AGA>ACA		zinc finger protein 678							68.0	77.0	74.0					1																	227842637		2203	4297	6500	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842637G>C	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.686G>C	1.37:g.227842637G>C	ENSP00000344828:p.Arg229Thr					ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	p.R229T	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN			4	1031	+		Prostate(94;0.0885)	284					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.686G>C		.	.	.	.	.	.	.	.	.	.	G	4.534	0.099176	0.08681	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.25414	1.8;1.8	1.62	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	M	0.66439	2.03	0.09310	N	1	D	0.56968	0.978	P	0.47603	0.551	T	0.15838	-1.0423	9	0.56958	D	0.05	.	6.0715	0.19891	0.3312:0.0:0.6688:0.0	.	229	Q5SXM1	ZN678_HUMAN	T	229;284	ENSP00000344828:R229T;ENSP00000440403:R284T	ENSP00000344828:R229T	R	+	2	0	ZNF678	225909260	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.273000	0.02823	-0.551000	0.06175	-0.902000	0.02854	AGA		0.378	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2		NM_178549		41	221	0	0	0	0.086207	0	41	221		
OBSCN	84033	broad.mit.edu	37	1	228399583	228399583	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:228399583C>T	ENST00000422127.1	+	2	143	c.99C>T	c.(97-99)atC>atT	p.I33I	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Silent_p.I33I|OBSCN_ENST00000284548.11_Silent_p.I33I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	33	Ig-like 1.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCCAGATCGTGGGTAATC	0.692																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(97-99)ATC>ATT		obscurin, cytoskeletal calmodulin and							10.0	12.0	11.0					1																	228399583		2035	4168	6203	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228399583C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.99C>T	1.37:g.228399583C>T						OBSCN_uc001hsn.2_Silent_p.I33I|uc001hsm.1_Intron	p.I33I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			2	143	+		Prostate(94;0.0405)	33			Ig-like 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.99C>T	CCDS58065.1																																																																																				0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		7	18	0	0	0	0.02938	0	7	18		
SIPA1L2	57568	broad.mit.edu	37	1	232574863	232574863	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:232574863G>C	ENST00000366630.1	-	14	4380	c.4022C>G	c.(4021-4023)tCt>tGt	p.S1341C	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1341C|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S415C			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1341	Ser-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCTGGAATGAGAGGATATCTC	0.582																																						uc001hvg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(4021-4023)TCT>TGT		signal-induced proliferation-associated 1 like							25.0	27.0	26.0					1																	232574863		2042	4191	6233	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232574863G>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4022C>G	1.37:g.232574863G>C	ENSP00000355589:p.Ser1341Cys					SIPA1L2_uc001hvf.2_Missense_Mutation_p.S415C	p.S1341C	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			13	4180	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1341			Ser-rich.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4022C>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427111	0.83667	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.81163	-1.46;-1.46;2.48	5.29	5.29	0.74685	.	0.151459	0.45126	D	0.000396	D	0.89522	0.6739	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.87578	0.936;0.998	D	0.90105	0.4187	10	0.87932	D	0	-11.2364	19.12	0.93358	0.0:0.0:1.0:0.0	.	1341;415	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	C	1341;1341;415	ENSP00000355589:S1341C;ENSP00000262861:S1341C;ENSP00000309102:S415C	ENSP00000262861:S1341C	S	-	2	0	SIPA1L2	230641486	1.000000	0.71417	0.274000	0.24659	0.956000	0.61745	9.176000	0.94839	2.752000	0.94435	0.655000	0.94253	TCT		0.582	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839		19	76	0	0	0	0.043863	0	19	76		
LYST	1130	broad.mit.edu	37	1	235969730	235969730	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:235969730G>C	ENST00000389794.3	-	6	2880	c.2706C>G	c.(2704-2706)ctC>ctG	p.L902L	LYST_ENST00000536965.1_Silent_p.L902L|LYST_ENST00000389793.2_Silent_p.L902L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	902					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAGCCACACAGAGGAATAGGT	0.438																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2704-2706)CTC>CTG		lysosomal trafficking regulator							68.0	70.0	69.0					1																	235969730		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969730G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2706C>G	1.37:g.235969730G>C						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L902L	p.L902L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2881	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	902					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.2706C>G	CCDS31062.1																																																																																				0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				68	187	0	0	0	0.139131	0	68	187		
RYR2	6262	broad.mit.edu	37	1	237794757	237794757	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:237794757G>A	ENST00000366574.2	+	42	6788	c.6471G>A	c.(6469-6471)caG>caA	p.Q2157Q	RYR2_ENST00000360064.6_Silent_p.Q2155Q|RYR2_ENST00000542537.1_Silent_p.Q2141Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2157	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTTTACCAGCACCCTAATC	0.448																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6469-6471)CAG>CAA		cardiac muscle ryanodine receptor							101.0	102.0	102.0					1																	237794757		1997	4203	6200	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794757G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6471G>A	1.37:g.237794757G>A							p.Q2157Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6591	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2157			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6471G>A	CCDS55691.1																																																																																				0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		33	28	0	0	0	0.069456	0	33	28		
ZNF672	79894	broad.mit.edu	37	1	249142042	249142042	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:249142042C>G	ENST00000306562.3	+	4	1315	c.569C>G	c.(568-570)cCc>cGc	p.P190R		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCCGGAGCCCCACGCGACCC	0.716																																						uc001iex.2		NaN																	0					0						c.(568-570)CCC>CGC		zinc finger protein 672							8.0	9.0	9.0					1																	249142042		2196	4276	6472	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142042C>G	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.569C>G	1.37:g.249142042C>G	ENSP00000421915:p.Pro190Arg						p.P190R	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1264	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	190					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.569C>G	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232293	0.39498	.	.	ENSG00000171161	ENST00000306562	T	0.08370	3.1	3.97	2.04	0.26737	Zinc finger, C2H2 (1);	.	.	.	.	T	0.09905	0.0243	L	0.39692	1.235	0.09310	N	1	P	0.52316	0.952	P	0.49140	0.601	T	0.23261	-1.0193	8	.	.	.	.	5.7047	0.17901	0.0:0.7422:0.0:0.2578	.	190	Q499Z4	ZN672_HUMAN	R	190	ENSP00000421915:P190R	.	P	+	2	0	ZNF672	247108665	.	.	0.433000	0.26760	0.048000	0.14542	.	.	0.429000	0.26202	0.655000	0.94253	CCC		0.716	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2		NM_024836		6	17	0	0	0	0.02938	0	6	17		
ST8SIA6	338596	broad.mit.edu	37	10	17373460	17373460	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:17373460C>T	ENST00000377602.4	-	5	543	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	157					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTTTTGCTTTCCACCTCGTAA	0.393																																						uc001ipd.2		NaN																	0				ovary(1)	1						c.(469-471)GAA>AAA		ST8 alpha-N-acetyl-neuraminide							125.0	126.0	126.0					10																	17373460		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17373460C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.469G>A	10.37:g.17373460C>T	ENSP00000366827:p.Glu157Lys					ST8SIA6_uc010qce.1_RNA	p.E157K	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			5	469	-			157			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.469G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108667	0.77096	.	.	ENSG00000148488	ENST00000377602	T	0.30448	1.53	4.77	3.85	0.44370	.	0.211681	0.50627	D	0.000112	T	0.47967	0.1474	M	0.61703	1.905	0.37505	D	0.91692	D	0.63046	0.992	P	0.61328	0.887	T	0.54193	-0.8330	10	0.37606	T	0.19	-21.3717	14.6114	0.68519	0.1471:0.8529:0.0:0.0	.	157	P61647	SIA8F_HUMAN	K	157	ENSP00000366827:E157K	ENSP00000366827:E157K	E	-	1	0	ST8SIA6	17413466	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	5.229000	0.65316	1.322000	0.45245	0.655000	0.94253	GAA		0.393	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1		NM_001004470		22	63	0	0	0	0.062417	0	22	63		
MLLT10	8028	broad.mit.edu	37	10	21962602	21962602	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:21962602G>A	ENST00000307729.7	+	11	1553	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	MLLT10_ENST00000377072.3_Missense_Mutation_p.E459K|MLLT10_ENST00000377059.3_Missense_Mutation_p.E459K|MLLT10_ENST00000446906.2_Missense_Mutation_p.E459K			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	459	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTCTGGCATAGAAGAAGAAAC	0.398			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2		NaN		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		0				lung(1)|skin(1)	2						c.(1375-1377)GAA>AAA		myeloid/lymphoid or mixed-lineage leukemia							112.0	123.0	119.0					10																	21962602		2202	4300	6502	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962602G>A	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1375G>A	10.37:g.21962602G>A	ENSP00000307411:p.Glu459Lys					MLLT10_uc001iqt.2_Missense_Mutation_p.E459K|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.E459K|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001irb.2_RNA|MLLT10_uc001iqz.2_Missense_Mutation_p.E214K	p.E459K	NM_004641	NP_004632	P55197	AF10_HUMAN			11	1723	+			459			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1375G>A	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488310	0.64074	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.15372	2.45;2.43;2.43;2.43	5.36	4.43	0.53597	.	0.348439	0.32753	N	0.005693	T	0.33673	0.0871	L	0.47716	1.5	0.47245	D	0.999364	D;P;P;D	0.71674	0.998;0.953;0.948;0.963	D;P;B;P	0.78314	0.991;0.551;0.428;0.63	T	0.02676	-1.1125	10	0.25751	T	0.34	.	15.8872	0.79261	0.0:0.1358:0.8642:0.0	.	305;459;459;459	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	K	459;459;459;305;459;102;101	ENSP00000366272:E459K;ENSP00000401406:E459K;ENSP00000307411:E459K;ENSP00000366258:E459K	ENSP00000307411:E459K	E	+	1	0	MLLT10	22002608	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.562000	0.82300	1.236000	0.43740	0.585000	0.79938	GAA		0.398	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1				86	200	0	0	0	0.139131	0	86	200		
CCDC7	79741	broad.mit.edu	37	10	33000562	33000562	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:33000562T>A	ENST00000375030.2	+	10	1036	c.418T>A	c.(418-420)Tca>Aca	p.S140T	C10orf68_ENST00000375028.3_Missense_Mutation_p.S108T|C10orf68_ENST00000375025.4_Missense_Mutation_p.S132T			Q9H943	CJ068_HUMAN		132										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGATGAAGAATCAGGTGAAAA	0.338																																						uc001iwn.3		NaN																	0				skin(2)|ovary(1)	3						c.(394-396)TCA>ACA		chromosome 10 open reading frame 68							63.0	66.0	65.0					10																	33000562		2203	4298	6501	SO:0001583	missense	79741							g.chr10:33000562T>A																												ENST00000375030.2:c.418T>A	10.37:g.33000562T>A	ENSP00000364170:p.Ser140Thr					C10orf68_uc001iwl.1_Missense_Mutation_p.S140T|C10orf68_uc001iwm.1_Missense_Mutation_p.S108T|C10orf68_uc010qei.1_Missense_Mutation_p.S59T	p.S132T	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			7	867	+			132					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.394T>A		.	.	.	.	.	.	.	.	.	.	.	4.371	0.068485	0.08436	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.30182	1.58;1.54;1.69;1.56	2.71	-5.42	0.02640	.	.	.	.	.	T	0.17959	0.0431	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.24823	0.041;0.112;0.041;0.112	B;B;B;B	0.23574	0.047;0.047;0.047;0.047	T	0.18429	-1.0337	9	0.38643	T	0.18	.	0.2513	0.00206	0.2579:0.156:0.2573:0.3289	.	64;132;108;140	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	T	132;140;108;132;80	ENSP00000303710:S132T;ENSP00000364170:S140T;ENSP00000364168:S108T;ENSP00000364165:S132T	ENSP00000303710:S132T	S	+	1	0	C10orf68	33040568	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.721000	0.00811	-2.434000	0.00554	-0.467000	0.05162	TCA		0.338	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2				11	57	0	0	0	0.09319	0	11	57		
ANKRD30A	91074	broad.mit.edu	37	10	37508817	37508817	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:37508817G>A	ENST00000602533.1	+	34	4108	c.4009G>A	c.(4009-4011)Gaa>Aaa	p.E1337K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1337K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1456K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1393					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGAAAGCAGAAACAGAAGT	0.279																																						uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(4009-4011)GAA>AAA		ankyrin repeat domain 30A							8.0	8.0	8.0					10																	37508817		1783	3989	5772	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508817G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.4009G>A	10.37:g.37508817G>A	ENSP00000473551:p.Glu1337Lys						p.E1337K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	4108	+			1393					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.4009G>A		.	.	.	.	.	.	.	.	.	.	g	10.35	1.326677	0.24080	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.21191	2.02;2.02	2.65	2.65	0.31530	.	.	.	.	.	T	0.44371	0.1290	M	0.78285	2.405	0.27444	N	0.953624	D	0.57571	0.98	D	0.70227	0.968	T	0.18429	-1.0337	9	0.54805	T	0.06	.	10.6596	0.45694	0.0:0.0:1.0:0.0	.	1393	Q9BXX3	AN30A_HUMAN	K	1337;1456	ENSP00000354432:E1337K;ENSP00000363792:E1456K	ENSP00000354432:E1337K	E	+	1	0	ANKRD30A	37548823	0.998000	0.40836	0.819000	0.32651	0.171000	0.22731	3.063000	0.49978	1.293000	0.44690	0.471000	0.43371	GAA		0.279	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		2	12	0	0	0	0.115264	0	2	12		
RET	5979	broad.mit.edu	37	10	43620387	43620387	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:43620387C>A	ENST00000355710.3	+	18	3228	c.2996C>A	c.(2995-2997)gCg>gAg	p.A999E	RET_ENST00000340058.5_Missense_Mutation_p.A999E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	999	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCGGTGTTTGCGGACATCAGC	0.557		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(2995-2997)GCG>GAG		ret proto-oncogene isoform a	Sunitinib(DB01268)						114.0	110.0	111.0					10																	43620387		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43620387C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2996C>A	10.37:g.43620387C>A	ENSP00000347942:p.Ala999Glu					RET_uc001jak.1_Missense_Mutation_p.A999E|RET_uc010qez.1_Missense_Mutation_p.A745E	p.A999E	NM_020975	NP_066124	P07949	RET_HUMAN			18	3186	+		Ovarian(717;0.0423)	999			Protein kinase.|Cytoplasmic (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2996C>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307590	0.40795	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.82344	-1.6;-1.6	4.85	2.77	0.32553	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.324438	0.33309	N	0.005051	D	0.82999	0.5159	N	0.25957	0.775	0.40935	D	0.984429	P;P;D	0.67145	0.602;0.875;0.996	B;B;P	0.59889	0.24;0.325;0.865	D	0.84137	0.0415	10	0.44086	T	0.13	.	16.1229	0.81373	0.0:0.6247:0.3753:0.0	.	745;999;999	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	E	999	ENSP00000347942:A999E;ENSP00000344798:A999E	ENSP00000344798:A999E	A	+	2	0	RET	42940393	0.993000	0.37304	0.900000	0.35374	0.669000	0.39330	2.986000	0.49370	1.005000	0.39183	0.563000	0.77884	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		NM_020975		21	69	1	0	4.4004e-07	0.083992	4.57955e-07	21	69		
SYT15	83849	broad.mit.edu	37	10	46967428	46967428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:46967428G>A	ENST00000374321.4	-	4	715	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	SYT15_ENST00000374325.3_Nonsense_Mutation_p.Q217*|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Nonsense_Mutation_p.Q270*|SYT15_ENST00000503753.1_Nonsense_Mutation_p.Q217*	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	217	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCTGTACCTGAAAGATGAAG	0.602																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2		NaN																	0					0						c.(649-651)CAG>TAG		synaptotagmin XV isoform a							78.0	87.0	84.0					10																	46967428		2101	4239	6340	SO:0001587	stop_gained	83849					integral to membrane|plasma membrane		g.chr10:46967428G>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.649C>T	10.37:g.46967428G>A	ENSP00000363441:p.Gln217*					SYT15_uc001jdz.2_Nonsense_Mutation_p.Q217*|SYT15_uc001jeb.2_Nonsense_Mutation_p.Q95*|SYT15_uc010qfp.1_RNA	p.Q217*	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			4	802	-			217			Cytoplasmic (Potential).|C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Nonsense_Mutation	SNP	ENST00000374321.4	37	c.649C>T	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	37	6.327309	0.97476	.	.	ENSG00000204176	ENST00000416127;ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	.	.	.	4.92	4.92	0.64577	.	0.057532	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	16.0016	0.80297	0.0:0.0:1.0:0.0	.	.	.	.	X	217;7;217;217;56;270;217;101	.	ENSP00000363441:Q217X	Q	-	1	0	SYT15	46387434	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.354000	0.73036	2.438000	0.82558	0.655000	0.94253	CAG		0.602	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912		7	67	0	0	0	0.02938	0	7	67		
MYOZ1	58529	broad.mit.edu	37	10	75391879	75391879	+	Missense_Mutation	SNP	G	G	T	rs149293567		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:75391879G>T	ENST00000359322.4	-	6	1073	c.709C>A	c.(709-711)Cgc>Agc	p.R237S	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					AAGGTCATGCGTTTGGAGGCC	0.473																																						uc001jur.2		NaN																	0				ovary(2)	2						c.(709-711)CGC>AGC		myozenin 1							90.0	83.0	86.0					10																	75391879		2203	4300	6503	SO:0001583	missense	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75391879G>T	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.709C>A	10.37:g.75391879G>T	ENSP00000352272:p.Arg237Ser						p.R237S	NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN			6	1074	-	Prostate(51;0.0112)		237						Missense_Mutation	SNP	ENST00000359322.4	37	c.709C>A	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713760	0.68730	.	.	ENSG00000177791	ENST00000359322	T	0.63096	-0.02	5.63	4.67	0.58626	.	0.111853	0.64402	D	0.000006	T	0.56978	0.2022	L	0.41236	1.265	0.35915	D	0.83136	P	0.49862	0.929	P	0.45946	0.498	T	0.61461	-0.7058	10	0.23302	T	0.38	-10.1925	15.3441	0.74320	0.0:0.0:0.8598:0.1402	.	237	Q9NP98	MYOZ1_HUMAN	S	237	ENSP00000352272:R237S	ENSP00000352272:R237S	R	-	1	0	MYOZ1	75061885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.033000	0.49743	2.656000	0.90262	0.655000	0.94253	CGC		0.473	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1				11	60	1	0	0.000673444	0.069234	0.000680095	11	60		
TRIM8	81603	broad.mit.edu	37	10	104404923	104404923	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:104404923G>T	ENST00000302424.7	+	1	671	c.549G>T	c.(547-549)gaG>gaT	p.E183D	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	183					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCGACGTGGAGATCCGAAGGA	0.647																																						uc001kvz.2		NaN																	0				ovary(1)	1						c.(547-549)GAG>GAT		tripartite motif-containing 8							14.0	16.0	15.0					10																	104404923		1628	3232	4860	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104404923G>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.549G>T	10.37:g.104404923G>T	ENSP00000302120:p.Glu183Asp						p.E183D	NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	672	+		Colorectal(252;0.122)	183			Potential.		A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.549G>T	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266988	0.40095	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.44482	0.92	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.34250	0.0891	L	0.40543	1.245	0.53688	D	0.999976	B	0.21071	0.051	B	0.19666	0.026	T	0.11060	-1.0603	10	0.33141	T	0.24	.	12.4645	0.55751	0.081:0.0:0.919:0.0	.	183	Q9BZR9	TRIM8_HUMAN	D	183	ENSP00000302120:E183D	ENSP00000302120:E183D	E	+	3	2	TRIM8	104394913	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.177000	0.58276	2.250000	0.74265	0.462000	0.41574	GAG		0.647	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3		NM_030912		10	11	1	0	1.33987e-11	0.069234	1.42339e-11	10	11		
CFAP43	80217	broad.mit.edu	37	10	105927390	105927390	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:105927390C>T	ENST00000278064.2	-	22	2915	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	WDR96_ENST00000428666.1_Missense_Mutation_p.E934K|WDR96_ENST00000357060.3_Missense_Mutation_p.E933K																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTAAGACACTCTGCTTCAATC	0.358																																						uc001kxw.2		NaN																	0					0						c.(2797-2799)GAG>AAG		hypothetical protein LOC80217							95.0	99.0	97.0					10																	105927390		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105927390C>T																												ENST00000278064.2:c.2590G>A	10.37:g.105927390C>T	ENSP00000278064:p.Glu864Lys					C10orf79_uc009xxq.2_Missense_Mutation_p.E241K|C10orf79_uc001kxx.3_Missense_Mutation_p.E934K	p.E933K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	22	2913	-		Colorectal(252;0.178)	933			Potential.			Missense_Mutation	SNP	ENST00000278064.2	37	c.2797G>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.161065	0.78226	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	T;T;T	0.14766	2.49;2.48;2.51	5.74	3.87	0.44632	.	0.152294	0.40222	N	0.001151	T	0.18215	0.0437	M	0.62723	1.935	0.25909	N	0.983251	B;D;P	0.56035	0.214;0.974;0.919	B;P;P	0.51415	0.117;0.669;0.604	T	0.10636	-1.0621	10	0.05721	T	0.95	.	11.2928	0.49261	0.0:0.832:0.0:0.168	.	934;934;933	G5E9L1;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	K	933;934;864	ENSP00000349568:E933K;ENSP00000400289:E934K;ENSP00000278064:E864K	ENSP00000278064:E864K	E	-	1	0	WDR96	105917380	0.906000	0.30813	0.994000	0.49952	0.907000	0.53573	1.837000	0.39201	2.712000	0.92718	0.650000	0.86243	GAG		0.358	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1				17	40	0	0	0	0.0333	0	17	40		
DMBT1	1755	broad.mit.edu	37	10	124348677	124348677	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:124348677T>A	ENST00000338354.3	+	17	2107	c.2001T>A	c.(1999-2001)gaT>gaA	p.D667E	DMBT1_ENST00000344338.3_Missense_Mutation_p.D657E|DMBT1_ENST00000368909.3_Missense_Mutation_p.D667E|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D657E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	667	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGTCCTGGATGATGTGCGCT	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(1999-2001)GAT>GAA		deleted in malignant brain tumors 1 isoform b							165.0	121.0	135.0					10																	124348677		2002	4118	6120	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124348677T>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2001T>A	10.37:g.124348677T>A	ENSP00000342210:p.Asp667Glu					DMBT1_uc001lgl.1_Missense_Mutation_p.D657E|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D667E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	p.D667E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			17	2107	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	667			SRCR 5.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2001T>A		.	.	.	.	.	.	.	.	.	.	T	10.01	1.233795	0.22626	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.19	-0.463	0.12164	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.49305	D	0.000151	T	0.65770	0.2723	M	0.93420	3.415	0.80722	D	1	D;D;D	0.76494	0.957;0.999;0.999	P;D;D	0.72625	0.616;0.963;0.978	T	0.65590	-0.6131	10	0.37606	T	0.19	.	9.0869	0.36587	0.0:0.3697:0.0:0.6303	.	667;657;667	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	E	667;667;667;667;667;667;657;667;657	ENSP00000342210:D667E;ENSP00000343175:D657E;ENSP00000357905:D667E;ENSP00000357951:D657E	ENSP00000342210:D667E	D	+	3	2	DMBT1	124338667	0.000000	0.05858	0.507000	0.27676	0.210000	0.24377	-0.916000	0.04029	-0.057000	0.13199	0.397000	0.26171	GAT		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		110	94	0	0	0	0.139131	0	110	94		
DMBT1	1755	broad.mit.edu	37	10	124402857	124402857	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:124402857C>T	ENST00000338354.3	+	53	7291	c.7185C>T	c.(7183-7185)gtC>gtT	p.V2395V	DMBT1_ENST00000344338.3_Silent_p.V2385V|DMBT1_ENST00000368909.3_Silent_p.V2395V|DMBT1_ENST00000330163.4_Silent_p.V1767V|DMBT1_ENST00000368955.3_Silent_p.V2385V|DMBT1_ENST00000359586.6_Silent_p.V1115V|DMBT1_ENST00000368956.2_Silent_p.V1767V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2395					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.V2395V(3)|p.V2524V(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGTGGACGTCGTCCTGGGTC	0.647																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	5	Substitution - coding silent(5)		endometrium(3)|large_intestine(2)	central_nervous_system(7)	7						c.(7183-7185)GTC>GTT		deleted in malignant brain tumors 1 isoform b							65.0	67.0	66.0					10																	124402857		2029	4170	6199	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402857C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7185C>T	10.37:g.124402857C>T						DMBT1_uc001lgl.1_Silent_p.V2385V|DMBT1_uc001lgm.1_Silent_p.V1767V|DMBT1_uc009xzz.1_Silent_p.V2394V|DMBT1_uc010qtx.1_Silent_p.V1115V|DMBT1_uc009yab.1_Silent_p.V1098V|DMBT1_uc009yac.1_Silent_p.V689V	p.V2395V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			53	7291	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2395					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.7185C>T																																																																																					0.647	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		17	41	0	0	0	0.0333	0	17	41		
TCERG1L	256536	broad.mit.edu	37	10	132891546	132891546	+	Missense_Mutation	SNP	C	C	A	rs201034812		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:132891546C>A	ENST00000368642.4	-	12	1725	c.1640G>T	c.(1639-1641)cGg>cTg	p.R547L	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	547	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCTCTGATCCCGGCCGTATTT	0.443																																						uc001lkp.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(1639-1641)CGG>CTG		transcription elongation regulator 1-like							93.0	96.0	95.0					10																	132891546		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132891546C>A	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1640G>T	10.37:g.132891546C>A	ENSP00000357631:p.Arg547Leu						p.R547L	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	12	1726	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	547			FF 2.		Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1640G>T	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	c	13.56	2.275037	0.40194	.	.	ENSG00000176769	ENST00000368642	T	0.29917	1.55	4.82	3.92	0.45320	FF domain (4);	0.123240	0.32769	N	0.005661	T	0.41096	0.1144	L	0.52573	1.65	0.40657	D	0.982097	D	0.58620	0.983	P	0.54629	0.757	T	0.39643	-0.9604	10	0.87932	D	0	-4.2563	12.372	0.55260	0.0:0.918:0.0:0.082	.	547	Q5VWI1	TCRGL_HUMAN	L	547	ENSP00000357631:R547L	ENSP00000357631:R547L	R	-	2	0	TCERG1L	132781536	0.994000	0.37717	0.999000	0.59377	0.077000	0.17291	1.622000	0.36997	1.036000	0.39998	-0.213000	0.12676	CGG		0.443	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2		NM_174937		8	96	1	0	0.000157383	0.038147	0.000160124	8	96		
LSP1	4046	broad.mit.edu	37	11	1905742	1905742	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:1905742G>C	ENST00000311604.3	+	7	823	c.648G>C	c.(646-648)aaG>aaC	p.K216N	LSP1_ENST00000406638.2_Missense_Mutation_p.K154N|LSP1_ENST00000405957.2_Missense_Mutation_p.K154N|LSP1_ENST00000381775.1_Missense_Mutation_p.K344N|LSP1_ENST00000485341.1_3'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	216					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ACAGTGTGAAGAAATCCCAGC	0.572																																						uc001lui.2		NaN																	0				large_intestine(1)	1						c.(646-648)AAG>AAC		lymphocyte-specific protein 1 isoform 1							140.0	124.0	129.0					11																	1905742		2202	4299	6501	SO:0001583	missense	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1905742G>C	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.648G>C	11.37:g.1905742G>C	ENSP00000308383:p.Lys216Asn					LSP1_uc001luj.2_Missense_Mutation_p.K344N|LSP1_uc001luk.2_Missense_Mutation_p.K154N|LSP1_uc001lul.2_Missense_Mutation_p.K154N|LSP1_uc001lum.2_Missense_Mutation_p.K154N	p.K216N	NM_002339	NP_002330	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	7	823	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	216					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	c.648G>C	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.292942	0.40594	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000406638;ENST00000417766;ENST00000432093	T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28	3.19	2.2	0.27929	.	0.642355	0.12324	U	0.478999	T	0.71324	0.3326	M	0.64170	1.965	0.37179	D	0.903418	D;D	0.76494	0.999;0.993	D;D	0.75020	0.985;0.973	T	0.73701	-0.3900	10	0.87932	D	0	-21.9022	11.689	0.51503	0.0:0.1815:0.8185:0.0	.	344;216	E9PFP3;P33241	.;LSP1_HUMAN	N	216;344;154;207;154;154;154	ENSP00000308383:K216N;ENSP00000371194:K344N;ENSP00000383932:K154N;ENSP00000400346:K207N;ENSP00000384022:K154N;ENSP00000416363:K154N;ENSP00000412405:K154N	ENSP00000308383:K216N	K	+	3	2	LSP1	1862318	1.000000	0.71417	0.976000	0.42696	0.196000	0.23810	3.239000	0.51360	0.613000	0.30089	0.306000	0.20318	AAG		0.572	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3		NM_002339		14	43	0	0	0	0.105934	0	14	43		
SPON1	10418	broad.mit.edu	37	11	14276159	14276159	+	RNA	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:14276159T>A	ENST00000310358.7	+	0	1511							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TAGTCCCGACTGGAACGTAGG	0.542																																						uc001mle.2		NaN																	0					0						c.(976-978)TGG>AGG		spondin 1, extracellular matrix protein							106.0	109.0	108.0					11																	14276159		2088	4216	6304			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276159T>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276159T>A							p.W326R	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	9	1514	+			326			Spondin.		A8K6W5|O94862|Q8NCD7|Q8WUR5	Missense_Mutation	SNP	ENST00000310358.7	37	c.976T>A		.	.	.	.	.	.	.	.	.	.	T	23.7	4.448464	0.84101	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.67	5.67	0.87782	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	.	.	.	0.80722	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	D	0.83820	0.0246	7	0.66056	D	0.02	.	13.8658	0.63588	0.0:0.0:0.0:1.0	.	326	Q9HCB6	SPON1_HUMAN	R	325	.	ENSP00000309297:W325R	W	+	1	0	SPON1	14232735	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.616000	0.83018	2.161000	0.67846	0.459000	0.35465	TGG		0.542	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript			NM_145584		14	42	0	0	0	0.132662	0	14	42		
LDLRAD3	143458	broad.mit.edu	37	11	36248840	36248840	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:36248840G>A	ENST00000315571.5	+	5	681	c.660G>A	c.(658-660)ctG>ctA	p.L220L	LDLRAD3_ENST00000524419.1_Silent_p.L210L|LDLRAD3_ENST00000528989.1_Silent_p.L171L|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	220					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TGTCCCGCCTGGTGGTCCTGG	0.627																																						uc001mwk.1		NaN																	0				central_nervous_system(1)	1						c.(658-660)CTG>CTA		low density lipoprotein receptor class A domain							53.0	49.0	50.0					11																	36248840		2202	4297	6499	SO:0001819	synonymous_variant	143458					integral to membrane	receptor activity	g.chr11:36248840G>A	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.660G>A	11.37:g.36248840G>A						LDLRAD3_uc010rey.1_Silent_p.L171L|LDLRAD3_uc010rez.1_Silent_p.L99L|LDLRAD3_uc010rfa.1_Intron	p.L220L	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			5	697	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	220			Cytoplasmic (Potential).		B7Z1U3|B9EG81|Q8NBJ0	Silent	SNP	ENST00000315571.5	37	c.660G>A	CCDS31462.1																																																																																				0.627	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1		NM_174902		34	41	0	0	0	0.045705	0	34	41		
OR5D13	390142	broad.mit.edu	37	11	55541543	55541543	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:55541543G>A	ENST00000361760.1	+	1	630	c.630G>A	c.(628-630)gtG>gtA	p.V210V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCAATGAGGTGAGCAGCCTAA	0.403																																						uc010ril.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(628-630)GTG>GTA		olfactory receptor, family 5, subfamily D,							141.0	135.0	137.0					11																	55541543		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541543G>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.630G>A	11.37:g.55541543G>A							p.V210V	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	630	+		all_epithelial(135;0.196)	210			Helical; Name=5; (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.630G>A	CCDS31507.1																																																																																				0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1		NM_001001967		24	124	0	0	0	0.069288	0	24	124		
GIF	2694	broad.mit.edu	37	11	59609985	59609985	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:59609985C>G	ENST00000257248.2	-	4	489	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	GIF_ENST00000541311.1_Missense_Mutation_p.E123Q	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	148					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AAGGTCGCCTCAGAGTTCTTC	0.577																																					NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2		NaN																	0				ovary(1)|liver(1)	2						c.(442-444)GAG>CAG		gastric intrinsic factor (vitamin B synthesis)							106.0	90.0	95.0					11																	59609985		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59609985C>G	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.442G>C	11.37:g.59609985C>G	ENSP00000257248:p.Glu148Gln					GIF_uc010rkz.1_3'UTR	p.E148Q	NM_005142	NP_005133	P27352	IF_HUMAN			4	490	-			148					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.442G>C	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597590	0.28445	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.35973	1.28;1.28	5.87	5.87	0.94306	.	0.258061	0.34603	N	0.003838	T	0.31638	0.0803	M	0.63428	1.95	0.21386	N	0.999709	P	0.42483	0.781	B	0.29716	0.106	T	0.42085	-0.9472	10	0.22706	T	0.39	-16.2134	16.0731	0.80948	0.0:1.0:0.0:0.0	.	148	P27352	IF_HUMAN	Q	148;123	ENSP00000257248:E148Q;ENSP00000440427:E123Q	ENSP00000257248:E148Q	E	-	1	0	GIF	59366561	0.005000	0.15991	0.137000	0.22149	0.570000	0.35934	1.351000	0.34022	2.941000	0.99782	0.655000	0.94253	GAG		0.577	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1		NM_005142		22	61	0	0	0	0.055883	0	22	61		
SLC22A25	387601	broad.mit.edu	37	11	62951183	62951183	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:62951183C>G	ENST00000306494.6	-	5	936	c.937G>C	c.(937-939)Gac>Cac	p.D313H	SLC22A25_ENST00000403374.2_Missense_Mutation_p.D147H|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTTAGGATGTCTTCAGCATTC	0.438																																						uc001nwr.1		NaN																	0				ovary(3)|skin(1)	4						c.(937-939)GAC>CAC		putative UST1-like organic anion transporter							330.0	293.0	306.0					11																	62951183		2201	4297	6498	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62951183C>G	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.937G>C	11.37:g.62951183C>G	ENSP00000307443:p.Asp313His					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.D313H	p.D313H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			5	937	-			313			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.937G>C	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119165	0.37436	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.74947	-0.23;-0.89	2.01	2.01	0.26516	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.554792	0.19693	N	0.108217	D	0.83317	0.5228	M	0.82823	2.61	0.09310	N	1	D;D	0.71674	0.996;0.998	D;D	0.68353	0.957;0.951	T	0.71189	-0.4666	10	0.72032	D	0.01	.	7.7101	0.28673	0.0:1.0:0.0:0.0	.	311;313	A4IF29;Q6T423	.;S22AP_HUMAN	H	313;147	ENSP00000307443:D313H;ENSP00000384208:D147H	ENSP00000307443:D313H	D	-	1	0	SLC22A25	62707759	0.013000	0.17824	0.026000	0.17262	0.291000	0.27294	0.611000	0.24268	1.469000	0.48083	0.121000	0.15741	GAC		0.438	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3		NM_199352		94	173	0	0	0	0.139131	0	94	173		
SF1	7536	broad.mit.edu	37	11	64544068	64544068	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:64544068C>T	ENST00000377390.3	-	2	399	c.62G>A	c.(61-63)cGc>cAc	p.R21H	SF1_ENST00000377394.3_Missense_Mutation_p.R21H|SF1_ENST00000334944.5_Missense_Mutation_p.R21H|SF1_ENST00000227503.9_Missense_Mutation_p.R21H|SF1_ENST00000377387.1_Missense_Mutation_p.R146H|SF1_ENST00000422298.2_5'UTR|AP001462.6_ENST00000594089.1_lincRNA|SF1_ENST00000433274.2_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	21					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TTGGTTCCAGCGGCTCCTCTT	0.428																																						uc001obb.1		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(61-63)CGC>CAC		splicing factor 1 isoform 1							129.0	124.0	126.0					11																	64544068		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64544068C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.62G>A	11.37:g.64544068C>T	ENSP00000366607:p.Arg21His					SF1_uc010rnn.1_5'UTR|SF1_uc001oaz.1_Missense_Mutation_p.R146H|SF1_uc001oba.1_Missense_Mutation_p.R21H|SF1_uc001obc.1_Missense_Mutation_p.R21H|SF1_uc001obd.1_Missense_Mutation_p.R21H|SF1_uc001obe.1_5'UTR|SF1_uc010rno.1_5'UTR|SF1_uc001obf.2_Missense_Mutation_p.R21H	p.R21H	NM_004630	NP_004621	Q15637	SF01_HUMAN			2	439	-			21	R->K: No effect.|R->A: Decreases interaction with U2AF2 and spliceosome assembly.				B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.62G>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694901	0.88830	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000416674	T;T;T;T;T	0.68624	-0.26;-0.31;-0.28;-0.04;-0.34	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.75615	2.305	0.80722	D	1	P;D;D;P;D;D	0.60575	0.687;0.966;0.966;0.943;0.966;0.988	B;B;B;B;P;P	0.46825	0.109;0.378;0.378;0.328;0.528;0.528	T	0.77040	-0.2735	10	0.59425	D	0.04	.	16.4884	0.84191	0.0:1.0:0.0:0.0	.	21;21;21;21;21;146	Q14820;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	H	146;21;21;21;21;21	ENSP00000366604:R146H;ENSP00000366607:R21H;ENSP00000227503:R21H;ENSP00000366611:R21H;ENSP00000334414:R21H	ENSP00000227503:R21H	R	-	2	0	SF1	64300644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.493000	0.84123	0.563000	0.77884	CGC		0.428	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1		NM_004630		41	71	0	0	0	0.09836	0	41	71		
ADRBK1	156	broad.mit.edu	37	11	67051208	67051208	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:67051208C>T	ENST00000308595.5	+	16	1649	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCCCCTTTTTCCGCTCCCTGG	0.617																																						uc009yrn.1		NaN																	0				large_intestine(1)	1						c.(1357-1359)TTC>TTT		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						79.0	92.0	87.0					11																	67051208		2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67051208C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1359C>T	11.37:g.67051208C>T						ADRBK1_uc009yrm.1_Intron	p.F453F	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		16	1625	+			453			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1359C>T	CCDS8156.1																																																																																				0.617	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1		NM_001619		20	80	0	0	0	0.049695	0	20	80		
ANKRD13D	338692	broad.mit.edu	37	11	67068616	67068616	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:67068616T>C	ENST00000447274.2	+	11	2143	c.968T>C	c.(967-969)aTt>aCt	p.I323T	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.I60T|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.I410T|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.I323T|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.I323T			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	323						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCGTCAAAATTGGTGAGAGG	0.632																																						uc001okc.1		NaN																	0				ovary(1)	1						c.(967-969)ATT>ACT		ankyrin repeat domain 13 family, member D							90.0	81.0	84.0					11																	67068616		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67068616T>C	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.968T>C	11.37:g.67068616T>C	ENSP00000402616:p.Ile323Thr					ANKRD13D_uc001okd.1_Missense_Mutation_p.I410T|ANKRD13D_uc001oke.1_Missense_Mutation_p.I323T|ANKRD13D_uc001okg.1_Missense_Mutation_p.I106T|ANKRD13D_uc001okh.1_Missense_Mutation_p.I106T|ANKRD13D_uc001oki.1_Missense_Mutation_p.I60T|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	p.I323T	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		12	1479	+			323					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.968T>C		.	.	.	.	.	.	.	.	.	.	T	22.8	4.334473	0.81801	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	M	0.76002	2.32	0.80722	D	1	D;P;D	0.65815	0.984;0.845;0.995	D;P;P	0.69479	0.964;0.646;0.893	T	0.75235	-0.3389	10	0.87932	D	0	-18.1367	14.0132	0.64509	0.0:0.0:0.0:1.0	.	60;410;323	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	T	323;410;323;323;60	ENSP00000402616:I323T;ENSP00000427130:I410T;ENSP00000310874:I323T;ENSP00000444404:I323T;ENSP00000443977:I60T	ENSP00000310874:I323T	I	+	2	0	ANKRD13D	66825192	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.116000	0.71571	1.976000	0.57569	0.459000	0.35465	ATT		0.632	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2		NM_207354		10	35	0	0	0	0.058154	0	10	35		
AQP11	282679	broad.mit.edu	37	11	77301521	77301521	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:77301521G>A	ENST00000313578.3	+	1	842	c.484G>A	c.(484-486)Gac>Aac	p.D162N	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	162					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CATCCGAGTCGACTTGCTCAA	0.567																																						uc001oyj.2		NaN																	0					0						c.(484-486)GAC>AAC		aquaporin 11							106.0	98.0	101.0					11																	77301521		2200	4292	6492	SO:0001583	missense	282679					cell surface|integral to membrane	transporter activity	g.chr11:77301521G>A	AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.484G>A	11.37:g.77301521G>A	ENSP00000318770:p.Asp162Asn					AQP11_uc009yuu.2_Intron	p.D162N	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		1	842	+	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		162						Missense_Mutation	SNP	ENST00000313578.3	37	c.484G>A	CCDS8251.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860489	0.32884	.	.	ENSG00000178301	ENST00000313578	T	0.40225	1.04	5.54	5.54	0.83059	Aquaporin-like (2);	0.296302	0.37715	N	0.001963	T	0.44829	0.1312	M	0.62723	1.935	0.09310	N	1	D	0.71674	0.998	P	0.50570	0.644	T	0.42999	-0.9418	10	0.20519	T	0.43	-16.2538	8.6057	0.33771	0.0828:0.0:0.7625:0.1547	.	162	Q8NBQ7	AQP11_HUMAN	N	162	ENSP00000318770:D162N	ENSP00000318770:D162N	D	+	1	0	AQP11	76979169	0.605000	0.26941	0.913000	0.36048	0.659000	0.38960	1.601000	0.36773	2.606000	0.88127	0.491000	0.48974	GAC		0.567	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1		NM_173039		35	76	0	0	0	0.050027	0	35	76		
DYNC2H1	79659	broad.mit.edu	37	11	103049829	103049829	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:103049829G>T	ENST00000375735.2	+	39	6358	c.6214G>T	c.(6214-6216)Gat>Tat	p.D2072Y	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D2072Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2072	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTCTGGATGATAATCGACT	0.388																																						uc001pho.2		NaN																	0					0						c.(6214-6216)GAT>TAT		dynein, cytoplasmic 2, heavy chain 1							143.0	136.0	138.0					11																	103049829		1885	4124	6009	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103049829G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6214G>T	11.37:g.103049829G>T	ENSP00000364887:p.Asp2072Tyr					DYNC2H1_uc001phn.1_Missense_Mutation_p.D2072Y|DYNC2H1_uc009yxe.1_Intron	p.D2072Y	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	39	6358	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2072			AAA 2 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6214G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366285	0.82463	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.95001	-3.58;-3.58	5.27	5.27	0.74061	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	D	0.98242	0.9418	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99232	1.0882	9	0.87932	D	0	.	19.2492	0.93917	0.0:0.0:1.0:0.0	.	2072;2072	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	2072	ENSP00000364887:D2072Y;ENSP00000381167:D2072Y	ENSP00000364887:D2072Y	D	+	1	0	DYNC2H1	102555039	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.962000	0.87912	2.635000	0.89317	0.585000	0.79938	GAT		0.388	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652		12	44	1	0	5.50884e-06	0.09319	5.66109e-06	12	44		
HTR3A	3359	broad.mit.edu	37	11	113856847	113856847	+	Missense_Mutation	SNP	C	C	T	rs139246177	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:113856847C>T	ENST00000504030.2	+	6	1100	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	HTR3A_ENST00000299961.5_Missense_Mutation_p.R204W|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.R219W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R225W|HTR3A_ENST00000355556.2_Missense_Mutation_p.R225W			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	219					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R219W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GCCCTACTTTCGGGAGTTCAG	0.478																																						uc010rxb.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(673-675)CGG>TGG		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	168.0	174.0	172.0		673,610,673	4.3	0.0	11	dbSNP_134	172	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	101,101,101	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	225/485,204/464,225/517	113856847	1,12993	2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856847C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.655C>T	11.37:g.113856847C>T	ENSP00000424189:p.Arg219Trp					HTR3A_uc010rxa.1_Missense_Mutation_p.R225W|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Missense_Mutation_p.R204W	p.R225W	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	906	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	219			Extracellular (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.673C>T		.	.	.	.	.	.	.	.	.	.	C	10.14	1.267837	0.23136	0.0	1.16E-4	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.19	4.27	0.50696	.	0.524214	0.21569	N	0.072432	D	0.84023	0.5381	L	0.54965	1.715	0.23043	N	0.998384	D;B;D	0.69078	0.997;0.085;0.997	P;B;P	0.56916	0.72;0.009;0.809	T	0.76987	-0.2755	10	0.72032	D	0.01	-8.5225	13.06	0.59002	0.4111:0.5889:0.0:0.0	.	204;225;225	B4DSY6;G5E986;Q7KZM7	.;.;.	W	219;225;225;219;204	ENSP00000424189:R219W;ENSP00000347754:R225W;ENSP00000364648:R225W;ENSP00000424776:R219W;ENSP00000299961:R204W	ENSP00000299961:R204W	R	+	1	2	HTR3A	113362057	0.012000	0.17670	0.002000	0.10522	0.024000	0.10985	2.421000	0.44688	1.285000	0.44548	0.655000	0.94253	CGG		0.478	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2		NM_000869		53	131	0	0	0	0.139131	0	53	131		
DDX6	1656	broad.mit.edu	37	11	118625512	118625512	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:118625512C>T	ENST00000526070.2	-	13	1721	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	DDX6_ENST00000534980.1_Missense_Mutation_p.G454E|DDX6_ENST00000264018.4_Missense_Mutation_p.G454E	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	454	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		AATTTCTGTTCCCAGCTGCTC	0.423			T	IGH@	B-NHL																																	uc001pub.2		NaN		Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				ovary(1)	1						c.(1360-1362)GGA>GAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 6							115.0	110.0	111.0					11																	118625512		1869	4101	5970	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118625512C>T	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1361G>A	11.37:g.118625512C>T	ENSP00000433704:p.Gly454Glu					DDX6_uc001pua.2_Missense_Mutation_p.G154E|DDX6_uc001puc.2_Missense_Mutation_p.G454E	p.G454E	NM_004397	NP_004388	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	13	1722	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	454			Helicase C-terminal.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.1361G>A	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018617	0.75275	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.29655	1.56;1.56;1.56	5.51	5.51	0.81932	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	L	0.36672	1.1	0.80722	D	1	B	0.24132	0.098	B	0.18871	0.023	T	0.05582	-1.0876	10	0.72032	D	0.01	.	19.0221	0.92919	0.0:1.0:0.0:0.0	.	454	P26196	DDX6_HUMAN	E	454	ENSP00000264018:G454E;ENSP00000442266:G454E;ENSP00000433704:G454E	ENSP00000264018:G454E	G	-	2	0	DDX6	118130722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	GGA		0.423	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2		NM_004397		31	55	0	0	0	0.134883	0	31	55		
BCL9L	283149	broad.mit.edu	37	11	118779098	118779098	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:118779098T>C	ENST00000334801.3	-	2	1257	c.293A>G	c.(292-294)cAg>cGg	p.Q98R	BCL9L_ENST00000526143.1_5'UTR|MIR4492_ENST00000581627.1_RNA	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	98					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACCCCTGCCTGGGGGTTCTT	0.647																																						uc001pug.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(292-294)CAG>CGG		B-cell CLL/lymphoma 9-like							75.0	72.0	73.0					11																	118779098		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118779098T>C	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.293A>G	11.37:g.118779098T>C	ENSP00000335320:p.Gln98Arg					BCL9L_uc009zal.2_Missense_Mutation_p.Q93R	p.Q98R	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	2	1258	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	98					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.293A>G	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884771	0.51908	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085;ENST00000532899	T;T	0.67171	-0.25;-0.25	5.5	4.31	0.51392	.	0.000000	0.48286	D	0.000183	T	0.56277	0.1974	L	0.46157	1.445	0.43467	D	0.995679	B;B	0.28713	0.22;0.141	B;B	0.27887	0.084;0.039	T	0.52660	-0.8546	10	0.20046	T	0.44	-10.6181	11.7712	0.51960	0.0:0.0:0.2606:0.7394	.	93;98	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	R	98;61;98;98;98	ENSP00000335320:Q98R;ENSP00000432804:Q98R	ENSP00000335320:Q98R	Q	-	2	0	BCL9L	118284308	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.097000	0.30988	2.085000	0.62840	0.459000	0.35465	CAG		0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1		NM_182557		28	42	0	0	0	0.116897	0	28	42		
ETS1	2113	broad.mit.edu	37	11	128354726	128354726	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:128354726G>A	ENST00000319397.6	-	5	1031	c.722C>T	c.(721-723)aCc>aTc	p.T241I	ETS1_ENST00000345075.4_Missense_Mutation_p.T241I|ETS1_ENST00000392668.4_Missense_Mutation_p.T285I|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Missense_Mutation_p.T241I|ETS1_ENST00000531611.1_Missense_Mutation_p.T241I	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	241	Activation domain; required for transcription activation.			MCMGRTSR -> FLPPPLPP (in Ref. 11; AAA52409). {ECO:0000305}.	angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ACCACGACTGGTCCTCCCCAT	0.418																																						uc010sbs.1		NaN																	0				lung(4)|central_nervous_system(1)|pleura(1)	6						c.(721-723)ACC>ATC		v-ets erythroblastosis virus E26 oncogene							98.0	91.0	93.0					11																	128354726		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128354726G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.722C>T	11.37:g.128354726G>A	ENSP00000324578:p.Thr241Ile					ETS1_uc001qej.2_Missense_Mutation_p.T285I|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.T241I	p.T241I	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	5	1038	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	241	MCMGRTSR -> FLPPPLPP (in Ref. 6; AAA52409).				A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.722C>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188290	0.21954	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.41758	2.57;2.77;0.99;2.8;2.57	5.43	5.43	0.79202	.	0.454001	0.26136	N	0.026137	T	0.15522	0.0374	N	0.00926	-1.1	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.20739	-1.0266	10	0.13853	T	0.58	.	12.5726	0.56344	0.0761:0.0:0.9239:0.0	.	241;241;285	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	I	241;285;241;241;241	ENSP00000340485:T241I;ENSP00000376436:T285I;ENSP00000435666:T241I;ENSP00000324578:T241I;ENSP00000433500:T241I	ENSP00000324578:T241I	T	-	2	0	ETS1	127859936	1.000000	0.71417	0.984000	0.44739	0.753000	0.42808	5.064000	0.64338	2.521000	0.84997	0.655000	0.94253	ACC		0.418	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2		NM_005238		21	63	0	0	0	0.076483	0	21	63		
GNB3	2784	broad.mit.edu	37	12	6948245	6948245	+	5'Flank	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:6948245C>T	ENST00000229264.3	+	0	0				GNB3_ENST00000435982.2_5'Flank|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGCCGTGACTCGGGGACGGCG	0.677																																						uc001qra.1		NaN																	0					0						c.(1987-1989)CGG>TGG		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						35.0	40.0	39.0					12																	6948245		2088	4207	6295	SO:0001631	upstream_gene_variant	10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6948245C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6948245C>T	Exception_encountered					LEPREL2_uc001qqz.1_Missense_Mutation_p.R470W|LEPREL2_uc001qrb.1_Missense_Mutation_p.R470W|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank|GNB3_uc009zfe.2_5'Flank	p.R663W	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			16	2021	+			663			Fe2OG dioxygenase.		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.1987C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267038	0.59540	.	.	ENSG00000110811	ENST00000451242;ENST00000396725;ENST00000290510	T;T	0.60040	0.22;0.22	4.99	4.01	0.46588	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.579940	0.19687	N	0.108361	T	0.71796	0.3382	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.69654	0.965	T	0.62798	-0.6778	9	0.87932	D	0	-11.3634	11.7008	0.51569	0.1423:0.7345:0.1232:0.0	.	663	Q8IVL6	P3H3_HUMAN	W	90;662;478	ENSP00000379951:R662W;ENSP00000290510:R478W	ENSP00000290510:R478W	R	+	1	2	LEPREL2	6818506	0.000000	0.05858	0.065000	0.19835	0.975000	0.68041	0.325000	0.19628	2.319000	0.78375	0.561000	0.74099	CGG		0.677	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1		NM_002075		6	25	0	0	0	0.021553	0	6	25		
TAS2R20	259295	broad.mit.edu	37	12	11150218	11150218	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:11150218T>A	ENST00000538986.1	-	1	256	c.257A>T	c.(256-258)aAt>aTt	p.N86I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	86					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TGCCCAGGCATTAGAAATAAA	0.343																																						uc001qzm.2		NaN																	0					0						c.(256-258)AAT>ATT		taste receptor, type 2, member 20							53.0	58.0	57.0					12																	11150218		2198	4296	6494	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150218T>A	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.257A>T	12.37:g.11150218T>A	ENSP00000441624:p.Asn86Ile					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.N86I	NM_176889	NP_795370	P59543	T2R20_HUMAN			1	257	-			86			Helical; Name=3; (Potential).		P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.257A>T	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	T	1.886	-0.456643	0.04540	.	.	ENSG00000255837	ENST00000538986	T	0.35973	1.28	2.77	-0.302	0.12796	.	1.372730	0.06168	N	0.677107	T	0.23171	0.0560	L	0.41824	1.3	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.23547	-1.0185	10	0.05833	T	0.94	.	3.9267	0.09267	0.5744:0.1845:0.0:0.2411	.	86	P59543	T2R20_HUMAN	I	86	ENSP00000441624:N86I	ENSP00000441624:N86I	N	-	2	0	TAS2R20	11041485	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	1.302000	0.33459	-0.180000	0.10637	-0.468000	0.05107	AAT		0.343	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2		NM_176889		62	56	0	0	0	0.139131	0	62	56		
PLEKHA5	54477	broad.mit.edu	37	12	19406895	19406895	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:19406895C>T	ENST00000299275.6	+	4	255	c.249C>T	c.(247-249)acC>acT	p.T83T	PLEKHA5_ENST00000424268.1_5'UTR|PLEKHA5_ENST00000538714.1_Silent_p.T83T|PLEKHA5_ENST00000429027.2_Silent_p.T83T|PLEKHA5_ENST00000543806.1_5'UTR|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000359180.3_Silent_p.T83T|PLEKHA5_ENST00000355397.3_Silent_p.T83T|PLEKHA5_ENST00000309364.4_Silent_p.T83T|PLEKHA5_ENST00000317589.4_Silent_p.T83T	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	83	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGAAAGTGACCTGCAAACATC	0.323																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(247-249)ACC>ACT		pleckstrin homology domain containing, family A							174.0	178.0	177.0					12																	19406895		2203	4300	6503	SO:0001819	synonymous_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19406895C>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.249C>T	12.37:g.19406895C>T						PLEKHA5_uc010sie.1_Silent_p.T83T|PLEKHA5_uc001rea.2_Silent_p.T83T|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_5'UTR|PLEKHA5_uc010sig.1_5'UTR|PLEKHA5_uc010sih.1_5'UTR	p.T83T	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			4	335	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		83			WW 2.		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	c.249C>T	CCDS8682.1																																																																																				0.323	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1		NM_019012		109	79	0	0	0	0.139131	0	109	79		
C12orf71	728858	broad.mit.edu	37	12	27235288	27235288	+	Silent	SNP	A	A	G	rs374528252		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:27235288A>G	ENST00000429849.2	-	1	159	c.129T>C	c.(127-129)gaT>gaC	p.D43D		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	43										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TGGAAGGTGCATCTTCCCAGG	0.547																																						uc001rhq.2		NaN																	0					0						c.(127-129)GAT>GAC		hypothetical protein LOC728858		G		2,3850		0,2,1924	54.0	53.0	53.0		129	-0.4	0.0	12		53	0,8250		0,0,4125	no	coding-synonymous	C12orf71	NM_001080406.1		0,2,6049	GG,GA,AA		0.0,0.0519,0.0165		43/270	27235288	2,12100	1926	4125	6051	SO:0001819	synonymous_variant	728858							g.chr12:27235288A>G		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.129T>C	12.37:g.27235288A>G							p.D43D	NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN			1	168	-			43						Silent	SNP	ENST00000429849.2	37	c.129T>C	CCDS44851.1																																																																																				0.547	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1		NM_001080406		9	43	0	0	0	0.058154	0	9	43		
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:31237922G>C	ENST00000407793.2	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000251758.5_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612										Multiple Myeloma(12;0.14)																												uc001rjt.1		NaN																	11	Substitution - Missense(11)		lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1)	breast(3)	3						c.(499-501)AGA>ACA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							18.0	20.0	19.0					12																	31237922		2203	4299	6502	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237922G>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.500G>C	12.37:g.31237922G>C	ENSP00000384703:p.Arg167Thr	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	p.R167T	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			5	751	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		167			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.500G>C	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.810541	0.00600	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.59224	4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17	3.87	0.233	0.15386	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.241085	0.41938	N	0.000785	T	0.18635	0.0447	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.12430	T	0.62	.	5.1988	0.15252	0.0:0.4995:0.1963:0.3042	.	167;167;167;167	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	167;167;167;141;138;141;167;167	ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T	ENSP00000228264:R141T	R	+	2	0	DDX11	31129189	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.680000	0.25306	-0.264000	0.09365	-1.993000	0.00448	AGA		0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1		NM_030653		3	14	0	0	0	0.009096	0	3	14		
NELL2	4753	broad.mit.edu	37	12	45173749	45173749	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:45173749G>C	ENST00000429094.2	-	4	896	c.392C>G	c.(391-393)tCa>tGa	p.S131*	NELL2_ENST00000333837.4_Nonsense_Mutation_p.S154*|NELL2_ENST00000437801.2_Nonsense_Mutation_p.S181*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.S130*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.S131*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.S130*|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000551601.1_Nonsense_Mutation_p.S130*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	131	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTGACTGCCTGAGCGGTAATG	0.468																																						uc001rog.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(391-393)TCA>TGA		NEL-like protein 2 isoform b precursor							170.0	152.0	158.0					12																	45173749		2203	4300	6503	SO:0001587	stop_gained	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173749G>C	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.392C>G	12.37:g.45173749G>C	ENSP00000390680:p.Ser131*					NELL2_uc001rof.3_Nonsense_Mutation_p.S130*|NELL2_uc001roh.2_Nonsense_Mutation_p.S131*|NELL2_uc009zkd.2_Nonsense_Mutation_p.S130*|NELL2_uc010skz.1_Nonsense_Mutation_p.S181*|NELL2_uc010sla.1_Nonsense_Mutation_p.S154*|NELL2_uc001roi.1_Nonsense_Mutation_p.S131*|NELL2_uc010slb.1_Nonsense_Mutation_p.S130*|NELL2_uc001roj.2_Nonsense_Mutation_p.S131*	p.S131*	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	987	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	131			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000429094.2	37	c.392C>G	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256068	0.95336	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	.	.	.	5.5	5.5	0.81552	.	0.185321	0.47852	D	0.000207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.6354	19.4004	0.94627	0.0:0.0:1.0:0.0	.	.	.	.	X	130;131;130;131;130;154;181;130;131;128	.	ENSP00000327988:S154X	S	-	2	0	NELL2	43460016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.577000	0.86979	0.655000	0.94253	TCA		0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1		NM_006159		28	132	0	0	0	0.116897	0	28	132		
PLEKHA8P1	51054	broad.mit.edu	37	12	45567959	45567959	+	RNA	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:45567959C>G	ENST00000256692.5	-	0	726					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAGAGCAGCTCAGAGGTGAAG	0.443																																						uc001rom.1		NaN																	0					0						c.(190-192)GAG>CAG		pleckstrin homology domain containing, family A							212.0	198.0	203.0					12																	45567959		2203	4300	6503			51054							g.chr12:45567959C>G	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567959C>G						PLEKHA9_uc009zke.2_Missense_Mutation_p.E64Q	p.E64Q	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	727	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.190G>C																																																																																					0.443	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1		NR_037144		50	154	0	0	0	0.139131	0	50	154		
AQP6	363	broad.mit.edu	37	12	50368531	50368531	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:50368531C>T	ENST00000315520.5	+	3	901	c.564C>T	c.(562-564)atC>atT	p.I188I	AQP6_ENST00000551733.1_Silent_p.I14I	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	188					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTCCCCAGATCCACTTCACTG	0.607											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rvr.1		NaN																	0					0						c.(562-564)ATC>ATT		aquaporin 6							79.0	70.0	73.0					12																	50368531		2203	4300	6503	SO:0001819	synonymous_variant	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50368531C>T	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.564C>T	12.37:g.50368531C>T			OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	969	AQP6_uc001rvp.1_Silent_p.I14I|AQP6_uc001rvq.1_RNA	p.I188I	NM_001652	NP_001643	Q13520	AQP6_HUMAN			3	901	+			188			Helical; (Potential).			Silent	SNP	ENST00000315520.5	37	c.564C>T	CCDS31798.1																																																																																				0.607	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2		NM_001652, NM_053286		33	21	0	0	0	0.059317	0	33	21		
RACGAP1	29127	broad.mit.edu	37	12	50390835	50390835	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:50390835G>C	ENST00000427314.2	-	12	1255	c.1032C>G	c.(1030-1032)gtC>gtG	p.V344V	RACGAP1_ENST00000551016.1_Silent_p.V344V|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000454520.2_Silent_p.V344V|RACGAP1_ENST00000312377.5_Silent_p.V344V|RACGAP1_ENST00000434422.1_Silent_p.V344V|RACGAP1_ENST00000547905.1_Silent_p.V344V	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTCCAATCTTGACAGGTGTTC	0.443																																						uc001rvt.2		NaN																	0				kidney(1)	1						c.(1030-1032)GTC>GTG		Rac GTPase activating protein 1							87.0	79.0	82.0					12																	50390835		2203	4300	6503	SO:0001819	synonymous_variant	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50390835G>C		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1032C>G	12.37:g.50390835G>C						RACGAP1_uc009zlm.1_Silent_p.V344V|RACGAP1_uc001rvs.2_Silent_p.V344V|RACGAP1_uc001rvu.2_Silent_p.V344V	p.V344V	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			12	1342	-			344						Silent	SNP	ENST00000427314.2	37	c.1032C>G	CCDS8795.1																																																																																				0.443	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1		NM_013277		22	78	0	0	0	0.069288	0	22	78		
DNAJC14	85406	broad.mit.edu	37	12	56216185	56216185	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:56216185G>A	ENST00000357606.3	-	7	2159	c.1870C>T	c.(1870-1872)Cgg>Tgg	p.R624W	DNAJC14_ENST00000317287.5_Missense_Mutation_p.R624W|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S253L|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.R624W			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	624					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCTGGAATCCGAGAACCAAAT	0.453											OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001shx.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1870-1872)CGG>TGG		dopamine receptor interacting protein							103.0	108.0	106.0					12																	56216185		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56216185G>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1870C>T	12.37:g.56216185G>A	ENSP00000350223:p.Arg624Trp		OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	DNAJC14_uc001shu.1_Missense_Mutation_p.R624W|DNAJC14_uc009zob.1_Missense_Mutation_p.R624W	p.R624W	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			6	2074	-			624					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1870C>T	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.171423|4.171423	0.78452|0.78452	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287;ENST00000540330|ENST00000546837	T;T;T|T	0.36878|0.33865	1.23;1.23;1.23|1.39	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.120396|.	0.53938|.	D|.	0.000056|.	T|T	0.40119|0.40119	0.1104|0.1104	L|L	0.40543|0.40543	1.245|1.245	0.52099|0.52099	D|D	0.99994|0.99994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.72075|.	0.976;0.976|.	T|T	0.04078|0.04078	-1.0979|-1.0979	10|6	0.87932|.	D|.	0|.	-4.0683|-4.0683	12.6935|12.6935	0.56990|0.56990	0.0:0.0:0.8354:0.1646|0.0:0.0:0.8354:0.1646	.|.	624;624|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	W|L	624;624;334;624;120|253	ENSP00000350223:R624W;ENSP00000316240:R624W;ENSP00000317500:R624W|ENSP00000447000:S253L	ENSP00000316240:R624W|.	R|S	-|-	1|2	2|0	DNAJC14|RP11-762I7.5	54502452|54502452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.505000|2.505000	0.45424|0.45424	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.453	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1		NM_032364		23	87	0	0	0	0.0918	0	23	87		
IKZF4	64375	broad.mit.edu	37	12	56427078	56427078	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:56427078A>T	ENST00000262032.5	+	11	1337	c.970A>T	c.(970-972)Aag>Tag	p.K324*	IKZF4_ENST00000547791.1_Nonsense_Mutation_p.K279*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.K324*|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.K222*|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	324					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CACCAAACGCAAGCGTTCCAC	0.502																																						uc001sjb.1		NaN																	0				ovary(1)	1						c.(970-972)AAG>TAG		zinc finger protein, subfamily 1A, 4							130.0	124.0	126.0					12																	56427078		1964	4159	6123	SO:0001587	stop_gained	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56427078A>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.970A>T	12.37:g.56427078A>T	ENSP00000262032:p.Lys324*					IKZF4_uc010sqa.1_Nonsense_Mutation_p.K277*|IKZF4_uc001sjc.1_Nonsense_Mutation_p.K324*|IKZF4_uc001sjd.1_Nonsense_Mutation_p.K222*|IKZF4_uc009zoi.1_Nonsense_Mutation_p.K279*|IKZF4_uc001sje.1_Nonsense_Mutation_p.K283*	p.K324*	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	1129	+			324					Q96JP3	Nonsense_Mutation	SNP	ENST00000262032.5	37	c.970A>T	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	A	37	6.076865	0.97262	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	.	.	.	4.9	4.9	0.64082	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5911	13.6515	0.62314	1.0:0.0:0.0:0.0	.	.	.	.	X	324;222;324;279	.	ENSP00000262032:K324X	K	+	1	0	IKZF4	54713345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.059000	0.61396	0.374000	0.22700	AAG		0.502	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1		NM_022465		26	247	0	0	0	0.144211	0	26	247		
OS9	10956	broad.mit.edu	37	12	58110272	58110272	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:58110272G>C	ENST00000315970.7	+	8	1011	c.970G>C	c.(970-972)Gga>Cga	p.G324R	OS9_ENST00000389142.5_Missense_Mutation_p.G324R|OS9_ENST00000439210.2_Missense_Mutation_p.G265R|OS9_ENST00000257966.8_Missense_Mutation_p.G325R|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.G324R|OS9_ENST00000551035.1_Missense_Mutation_p.G292R|OS9_ENST00000389146.6_Missense_Mutation_p.G324R|OS9_ENST00000435406.2_Missense_Mutation_p.G272R|OS9_ENST00000413095.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	324					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCAGGCCCCAGGAGGGGAGGA	0.597																																						uc001spj.2		NaN																	0				ovary(1)	1						c.(970-972)GGA>CGA		osteosarcoma amplified 9, endoplasmic reticulum							28.0	23.0	25.0					12																	58110272		2202	4296	6498	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58110272G>C	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.970G>C	12.37:g.58110272G>C	ENSP00000318165:p.Gly324Arg					OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.G324R|OS9_uc001spl.2_Missense_Mutation_p.G324R|OS9_uc001spm.2_Missense_Mutation_p.G324R|OS9_uc001spn.2_Missense_Mutation_p.G325R|OS9_uc010sry.1_Missense_Mutation_p.G292R|OS9_uc010srz.1_Missense_Mutation_p.G265R	p.G324R	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		8	1029	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		324					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.970G>C	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768104	0.49680	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	4.25	1.17	0.20885	.	1.025950	0.07738	N	0.946468	T	0.38957	0.1060	L	0.27053	0.805	0.09310	N	1	B;B;B;D;B;B;B	0.59767	0.012;0.008;0.004;0.986;0.002;0.0;0.001	B;B;B;P;B;B;B	0.54060	0.009;0.015;0.004;0.741;0.002;0.001;0.002	T	0.24440	-1.0160	10	0.48119	T	0.1	.	4.7217	0.12922	0.2087:0.1779:0.6134:0.0	.	265;292;325;324;324;324;324	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	R	324;324;265;324;292;325;272;324	ENSP00000450010:G324R;ENSP00000318165:G324R;ENSP00000407360:G265R;ENSP00000373798:G324R;ENSP00000447866:G292R;ENSP00000257966:G325R;ENSP00000389632:G272R;ENSP00000373794:G324R	ENSP00000257966:G325R	G	+	1	0	OS9	56396539	0.000000	0.05858	0.000000	0.03702	0.952000	0.60782	0.260000	0.18424	0.433000	0.26313	0.591000	0.81541	GGA		0.597	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1		NM_006812		2	6	0	0	0	0.115264	0	2	6		
APPL2	55198	broad.mit.edu	37	12	105593247	105593247	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:105593247G>A	ENST00000258530.3	-	10	992	c.767C>T	c.(766-768)tCt>tTt	p.S256F	APPL2_ENST00000539978.2_Missense_Mutation_p.S213F|APPL2_ENST00000551662.1_Missense_Mutation_p.S262F|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCATCAACAGAAAGTAATTC	0.473																																						uc001tlf.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(766-768)TCT>TTT		adaptor protein, phosphotyrosine interaction, PH							140.0	127.0	131.0					12																	105593247		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105593247G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.767C>T	12.37:g.105593247G>A	ENSP00000258530:p.Ser256Phe					APPL2_uc010swt.1_Missense_Mutation_p.S213F|APPL2_uc001tlg.1_Missense_Mutation_p.S10F|APPL2_uc010swu.1_Missense_Mutation_p.S262F|APPL2_uc009zuq.2_Missense_Mutation_p.S213F	p.S256F	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			10	985	-			256			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.767C>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994890	0.54041	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.25749	2.59;1.78;2.39	5.93	4.11	0.48088	.	0.051555	0.85682	D	0.000000	T	0.39835	0.1093	M	0.67953	2.075	0.80722	D	1	P;P;P	0.51147	0.942;0.811;0.542	P;P;B	0.53649	0.731;0.584;0.433	T	0.24048	-1.0171	10	0.62326	D	0.03	-12.7446	11.7916	0.52073	0.0658:0.1238:0.8104:0.0	.	262;213;256	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	F	256;213;262	ENSP00000258530:S256F;ENSP00000444472:S213F;ENSP00000446917:S262F	ENSP00000258530:S256F	S	-	2	0	APPL2	104117377	1.000000	0.71417	0.038000	0.18304	0.129000	0.20672	6.203000	0.72137	0.856000	0.35383	0.655000	0.94253	TCT		0.473	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3		NM_018171		40	29	0	0	0	0.092188	0	40	29		
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000539066.1_Splice_Site_p.L310F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																						uc001tlp.2		NaN																	4	Substitution - Missense(4)		kidney(3)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1102-1104)CTT>TTT		DNA-directed RNA polymerase III B isoform 1							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	p.L368F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1102C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082	Missense_Mutation	4	9	0	0	0	0.021553	0	4	9		
ACACB	32	broad.mit.edu	37	12	109702055	109702055	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:109702055A>G	ENST00000338432.7	+	50	6925	c.6806A>G	c.(6805-6807)gAc>gGc	p.D2269G	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.D2199G|ACACB_ENST00000377848.3_Missense_Mutation_p.D2269G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2269	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GATCTCTCCGACAAGGACCGA	0.552											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tob.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6805-6807)GAC>GGC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						92.0	100.0	97.0					12																	109702055		2203	4299	6502	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109702055A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6806A>G	12.37:g.109702055A>G	ENSP00000341044:p.Asp2269Gly		OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1421	ACACB_uc001toc.2_Missense_Mutation_p.D2269G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.D935G	p.D2269G	NM_001093	NP_001084	O00763	ACACB_HUMAN			50	6925	+			2269			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6806A>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	9.157	1.017617	0.19355	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.34072	1.38;1.38;1.38	4.79	4.79	0.61399	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.572015	0.20472	N	0.091661	T	0.20333	0.0489	N	0.05306	-0.075	0.58432	D	0.999998	B	0.20550	0.046	B	0.21546	0.035	T	0.07195	-1.0785	10	0.22706	T	0.39	.	14.6577	0.68847	1.0:0.0:0.0:0.0	.	2269	O00763	ACACB_HUMAN	G	2269;2269;2199;1500	ENSP00000341044:D2269G;ENSP00000367079:D2269G;ENSP00000367085:D2199G	ENSP00000341044:D2269G	D	+	2	0	ACACB	108186438	0.980000	0.34600	0.035000	0.18076	0.002000	0.02628	3.347000	0.52200	1.936000	0.56123	0.533000	0.62120	GAC		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093		33	123	0	0	0	0.059317	0	33	123		
UBE3B	89910	broad.mit.edu	37	12	109939197	109939197	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:109939197G>A	ENST00000342494.3	+	13	1735	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L	UBE3B_ENST00000434735.2_Silent_p.L380L|UBE3B_ENST00000280774.5_Silent_p.L380L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	380					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAATGCACTTGATCACCAAAC	0.557																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(1138-1140)TTG>TTA		ubiquitin protein ligase E3B							214.0	197.0	202.0					12																	109939197		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109939197G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1140G>A	12.37:g.109939197G>A						UBE3B_uc001toq.2_Silent_p.L380L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L380L	p.L380L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			13	1743	+			380					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.1140G>A	CCDS9129.1																																																																																				0.557	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		111	76	0	0	0	0.139131	0	111	76		
KNTC1	9735	broad.mit.edu	37	12	123024233	123024233	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:123024233A>G	ENST00000333479.7	+	5	554	c.377A>G	c.(376-378)cAg>cGg	p.Q126R	KNTC1_ENST00000450485.2_Missense_Mutation_p.Q126R	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	126					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GCATTTGTTCAGAAAGCTAAC	0.279																																						uc001ucv.2		NaN																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(376-378)CAG>CGG		Rough Deal homolog, centromere/kinetochore							30.0	29.0	29.0					12																	123024233		1790	4063	5853	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123024233A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.377A>G	12.37:g.123024233A>G	ENSP00000328236:p.Gln126Arg					KNTC1_uc010taf.1_Missense_Mutation_p.Q126R	p.Q126R	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	5	540	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		126					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.377A>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736712	0.30774	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.17054	2.3;2.36	4.97	1.12	0.20585	.	0.374339	0.27109	N	0.020883	T	0.10165	0.0249	L	0.29908	0.895	0.80722	D	1	B;B	0.32245	0.0;0.361	B;B	0.28139	0.001;0.086	T	0.20042	-1.0287	10	0.44086	T	0.13	-2.1969	6.7803	0.23642	0.7207:0.1288:0.1505:0.0	.	126;126	E7ES84;P50748	.;KNTC1_HUMAN	R	126	ENSP00000397992:Q126R;ENSP00000328236:Q126R	ENSP00000328236:Q126R	Q	+	2	0	KNTC1	121590186	1.000000	0.71417	0.980000	0.43619	0.870000	0.49936	1.501000	0.35693	-0.245000	0.09625	-1.431000	0.01090	CAG		0.279	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				3	1	0	0	0	0.115264	0	3	1		
EP400	57634	broad.mit.edu	37	12	132502842	132502842	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:132502842C>T	ENST00000333577.4	+	22	4415	c.4306C>T	c.(4306-4308)Ccg>Tcg	p.P1436S	EP400_ENST00000389561.2_Missense_Mutation_p.P1400S|EP400_ENST00000389562.2_Missense_Mutation_p.P1399S|EP400_ENST00000330386.6_Missense_Mutation_p.P1400S|EP400_ENST00000332482.4_Missense_Mutation_p.P1363S			Q96L91	EP400_HUMAN	E1A binding protein p400	1436					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAAAAGATACCGCGGAAACT	0.502																																						uc001ujn.2		NaN																	0		p.R1400W(1)		central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4198-4200)CCG>TCG		E1A binding protein p400							56.0	58.0	57.0					12																	132502842		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502842C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4306C>T	12.37:g.132502842C>T	ENSP00000333602:p.Pro1436Ser					EP400_uc001ujl.2_Missense_Mutation_p.P1399S|EP400_uc001ujm.2_Missense_Mutation_p.P1400S	p.P1400S	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	20	4233	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1436					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4198C>T		.	.	.	.	.	.	.	.	.	.	C	5.532	0.283139	0.10458	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89681	-2.54;-2.54;-2.54;-2.54;-2.55	5.43	1.63	0.23807	.	0.151139	0.64402	N	0.000016	T	0.72260	0.3438	N	0.04508	-0.205	0.25874	N	0.983671	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.60016	-0.7345	10	0.33141	T	0.24	.	7.4027	0.26973	0.6241:0.1352:0.0:0.2407	.	1400;1400;1399	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	S	1436;1400;1399;1363;1400;1400;1400	ENSP00000333602:P1436S;ENSP00000374212:P1400S;ENSP00000374213:P1399S;ENSP00000331737:P1363S;ENSP00000330620:P1400S	ENSP00000330620:P1400S	P	+	1	0	EP400	131068795	0.921000	0.31238	0.009000	0.14445	0.004000	0.04260	3.560000	0.53763	0.021000	0.15133	-0.262000	0.10625	CCG		0.502	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		31	47	0	0	0	0.134883	0	31	47		
N6AMT2	221143	broad.mit.edu	37	13	21331724	21331724	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:21331724T>A	ENST00000382758.1	-	2	61	c.14A>T	c.(13-15)gAa>gTa	p.E5V	N6AMT2_ENST00000382754.4_Missense_Mutation_p.E5V|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	5						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTCATCATCTTCCAAATCACT	0.403																																						uc001uno.1		NaN																	0					0						c.(13-15)GAA>GTA		N-6 adenine-specific DNA methyltransferase 2							97.0	92.0	94.0					13																	21331724		2203	4300	6503	SO:0001583	missense	221143						methyltransferase activity|nucleic acid binding	g.chr13:21331724T>A	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.14A>T	13.37:g.21331724T>A	ENSP00000372206:p.Glu5Val					N6AMT2_uc009zzr.1_Missense_Mutation_p.E5V|N6AMT2_uc001unp.2_RNA	p.E5V	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	2	95	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	5					B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	c.14A>T	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380017	0.61845	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.47177	0.85;0.85	5.27	5.27	0.74061	.	0.552988	0.19466	N	0.113567	T	0.44540	0.1298	L	0.57536	1.79	0.35355	D	0.787742	B	0.29862	0.259	B	0.21546	0.035	T	0.58142	-0.7688	10	0.62326	D	0.03	.	13.441	0.61112	0.0:0.0:0.0:1.0	.	5	Q8WVE0	N6MT2_HUMAN	V	5	ENSP00000372206:E5V;ENSP00000372202:E5V	ENSP00000372202:E5V	E	-	2	0	N6AMT2	20229724	0.975000	0.34042	0.043000	0.18650	0.323000	0.28346	3.355000	0.52262	2.127000	0.65507	0.528000	0.53228	GAA		0.403	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1		NM_174928		11	79	0	0	0	0.080935	0	11	79		
RNF17	56163	broad.mit.edu	37	13	25416223	25416223	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:25416223C>G	ENST00000255324.5	+	19	2579	c.2527C>G	c.(2527-2529)Ctt>Gtt	p.L843V	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.L843V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	843					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L843F(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCGATTCTCTTGGTGCTCC	0.333																																						uc001upr.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(2527-2529)CTT>GTT		ring finger protein 17							157.0	149.0	152.0					13																	25416223		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25416223C>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2527C>G	13.37:g.25416223C>G	ENSP00000255324:p.Leu843Val					RNF17_uc010tdd.1_Missense_Mutation_p.L702V|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.L843V|RNF17_uc001ups.2_Missense_Mutation_p.L782V|RNF17_uc010aac.2_Missense_Mutation_p.L41V|RNF17_uc010aad.2_5'Flank	p.L843V	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	19	2568	+		Lung SC(185;0.0225)|Breast(139;0.077)	843					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2527C>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.783956	0.00628	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.12039	3.5;3.5;2.72	5.29	-2.41	0.06562	Staphylococcal nuclease (SNase-like) (1);	1.271950	0.05476	N	0.554000	T	0.07548	0.0190	N	0.24115	0.695	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.11329	0.006;0.001;0.006	T	0.37934	-0.9684	10	0.29301	T	0.29	0.9095	0.9056	0.01284	0.284:0.3224:0.1032:0.2904	.	843;843;843	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	V	843;843;702;167	ENSP00000255324:L843V;ENSP00000371346:L843V;ENSP00000388892:L167V	ENSP00000255324:L843V	L	+	1	0	RNF17	24314223	0.000000	0.05858	0.008000	0.14137	0.020000	0.10135	-0.615000	0.05597	-0.414000	0.07495	-0.237000	0.12165	CTT		0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1		NM_031994		7	70	0	0	0	0.038147	0	7	70		
SMAD9	4093	broad.mit.edu	37	13	37439763	37439763	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:37439763G>C	ENST00000399275.2	-	4	1053	c.914C>G	c.(913-915)tCa>tGa	p.S305*	SMAD9_ENST00000379826.4_Nonsense_Mutation_p.S305*|SMAD9_ENST00000350148.5_Nonsense_Mutation_p.S268*			O15198	SMAD9_HUMAN	SMAD family member 9	305	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CCTGTTATTTGAAGGGTCGGT	0.453																																						uc001uvw.2		NaN																	0					0						c.(913-915)TCA>TGA		SMAD family member 9 isoform a							106.0	104.0	105.0					13																	37439763		2203	4300	6503	SO:0001587	stop_gained	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37439763G>C		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.914C>G	13.37:g.37439763G>C	ENSP00000382216:p.Ser305*					SMAD9_uc001uvx.2_Nonsense_Mutation_p.S268*|SMAD9_uc010tep.1_Nonsense_Mutation_p.S98*	p.S305*	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	5	1257	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	305			MH2.		A2A2Y6|O14989|Q5TBA1	Nonsense_Mutation	SNP	ENST00000399275.2	37	c.914C>G	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	39	7.796514	0.98495	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	.	.	.	5.23	4.38	0.52667	.	0.056586	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3663	0.60687	0.0765:0.0:0.9235:0.0	.	.	.	.	X	305;268;305	.	ENSP00000239885:S268X	S	-	2	0	SMAD9	36337763	1.000000	0.71417	0.819000	0.32651	0.858000	0.48976	7.811000	0.86092	1.346000	0.45694	-0.150000	0.13652	TCA		0.453	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2		NM_005905		23	45	0	0	0	0.076483	0	23	45		
LHFP	10186	broad.mit.edu	37	13	39918097	39918097	+	Missense_Mutation	SNP	C	C	G	rs142420975		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:39918097C>G	ENST00000379589.3	-	4	1041	c.579G>C	c.(577-579)aaG>aaC	p.K193N		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	193						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GCTTCTGTTTCTTGCCCGAAA	0.557			T	HMGA2	lipoma																																	uc001uxf.2		NaN		Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				soft_tissue(2)|lung(1)|breast(1)	4						c.(577-579)AAG>AAC		lipoma HMGIC fusion partner precursor							113.0	94.0	100.0					13																	39918097		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:39918097C>G	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.579G>C	13.37:g.39918097C>G	ENSP00000368908:p.Lys193Asn						p.K193N	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	4	1090	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	193					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.579G>C	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615556	0.87359	.	.	ENSG00000183722	ENST00000379589	T	0.75477	-0.94	5.14	5.14	0.70334	.	0.080968	0.50627	D	0.000106	T	0.82079	0.4959	L	0.55103	1.725	0.51767	D	0.999932	D	0.67145	0.996	D	0.63192	0.912	T	0.81293	-0.0998	9	.	.	.	.	17.5976	0.88016	0.0:1.0:0.0:0.0	.	193	Q9Y693	LHFP_HUMAN	N	193	ENSP00000368908:K193N	.	K	-	3	2	LHFP	38816097	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.560000	0.60802	2.402000	0.81655	0.557000	0.71058	AAG		0.557	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1		NM_005780		45	43	0	0	0	0.124865	0	45	43		
PCDH8	5100	broad.mit.edu	37	13	53420180	53420180	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:53420180C>T	ENST00000377942.3	-	1	2595	c.2392G>A	c.(2392-2394)Gga>Aga	p.G798R	PCDH8_ENST00000338862.4_Intron	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	798					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCGAGGCTccgccgcccgcc	0.756																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NaN																	0				breast(1)	1						c.(2392-2394)GGA>AGA		protocadherin 8 isoform 1 precursor							5.0	8.0	7.0					13																	53420180		1556	3498	5054	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420180C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2392G>A	13.37:g.53420180C>T	ENSP00000367177:p.Gly798Arg					PCDH8_uc001vhj.2_Intron	p.G798R	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2595	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	798			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2392G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824368	0.71143	.	.	ENSG00000136099	ENST00000377942;ENST00000418407;ENST00000448969	T	0.52295	0.67	4.58	4.58	0.56647	.	0.167529	0.28338	N	0.015714	T	0.48409	0.1498	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.32428	-0.9907	10	0.15499	T	0.54	.	17.5702	0.87933	0.0:1.0:0.0:0.0	.	798	O95206	PCDH8_HUMAN	R	798;324;641	ENSP00000367177:G798R	ENSP00000367177:G798R	G	-	1	0	PCDH8	52318181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.508000	0.53378	2.359000	0.80004	0.655000	0.94253	GGA		0.756	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2		NM_002590		4	12	0	0	0	0.009096	0	4	12		
DCT	1638	broad.mit.edu	37	13	95114445	95114445	+	Splice_Site	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:95114445T>A	ENST00000377028.5	-	5	1277		c.e5-2		DCT_ENST00000446125.1_Splice_Site|DCT_ENST00000490854.1_Splice_Site	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase						cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCATCCAAGCTAAGATTTGTA	0.433																																						uc001vlv.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.e5-1		dopachrome tautomerase isoform 1							78.0	70.0	72.0					13																	95114445		2203	4300	6503	SO:0001630	splice_region_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95114445T>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.864-2A>T	13.37:g.95114445T>A						DCT_uc010afh.2_Splice_Site_p.S288_splice	p.S288_splice	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	5	1291	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)						Q09GT4	Splice_Site	SNP	ENST00000377028.5	37	c.864_splice	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	t	17.72	3.460150	0.63401	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7521	0.77994	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCT	93912446	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.747000	0.85070	2.139000	0.66308	0.398000	0.26397	.		0.433	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			Intron	9	47	0	0	0	0.047766	0	9	47		
NALCN	259232	broad.mit.edu	37	13	101944717	101944717	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:101944717C>G	ENST00000251127.6	-	8	881	c.800G>C	c.(799-801)gGa>gCa	p.G267A	NALCN_ENST00000376196.3_Splice_Site_p.G267A|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	267					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATACTAGTTCCTGTCATGAC	0.433																																						uc001vox.1		NaN																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(799-801)GGA>GCA		voltage gated channel like 1							59.0	54.0	56.0					13																	101944717		2203	4300	6503	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944717C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.800-1G>C	13.37:g.101944717C>G						NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.G267A|NALCN_uc001vpa.2_Missense_Mutation_p.G267A	p.G267A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			8	989	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		267			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.800G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753097	0.15778	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.97505	-4.41;-4.41	6.16	6.16	0.99307	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	N	0.21508	0.67	0.80722	D	1	B;B	0.24317	0.101;0.016	B;B	0.35039	0.194;0.071	D	0.89337	0.3651	10	0.02654	T	1	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	267;267	F2Z323;Q8IZF0	.;NALCN_HUMAN	A	267	ENSP00000251127:G267A;ENSP00000365367:G267A	ENSP00000251127:G267A	G	-	2	0	NALCN	100742718	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GGA		0.433	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867	Missense_Mutation	23	28	0	0	0	0.076483	0	23	28		
MCF2L	23263	broad.mit.edu	37	13	113729380	113729380	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:113729380G>A	ENST00000375608.3	+	12	1333	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	MCF2L_ENST00000423482.2_Silent_p.A393A|MCF2L_ENST00000421756.1_Silent_p.A399A|MCF2L_ENST00000375604.2_Silent_p.A452A|MCF2L_ENST00000535094.2_Silent_p.A395A|MCF2L_ENST00000442652.2_Silent_p.A425A|MCF2L_ENST00000375597.4_Silent_p.A393A|MCF2L_ENST00000397030.1_Silent_p.A428A|MCF2L_ENST00000434480.2_Silent_p.A401A|MCF2L_ENST00000375601.3_Silent_p.A399A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	425					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACTACGCGGTAGACTCCA	0.657																																						uc001vsu.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1354-1356)GCG>GCA		MCF.2 cell line derived transforming							78.0	87.0	84.0					13																	113729380		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729380G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1275G>A	13.37:g.113729380G>A						MCF2L_uc001vsq.2_Silent_p.A452A|MCF2L_uc010tjr.1_Silent_p.A395A|MCF2L_uc001vsr.2_Silent_p.A399A|MCF2L_uc001vss.3_Silent_p.A393A|MCF2L_uc010tjs.1_Silent_p.A393A|MCF2L_uc001vst.1_Silent_p.A357A	p.A452A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			11	1378	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	425			Spectrin.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1356G>A		.	.	.	.	.	.	.	.	.	.	G	0.278	-0.988361	0.02162	.	.	ENSG00000126217	ENST00000397017	.	.	.	4.74	-9.47	0.00594	.	.	.	.	.	T	0.40473	0.1118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58381	-0.7646	4	.	.	.	.	2.8797	0.05644	0.1413:0.1307:0.2861:0.4419	.	.	.	.	S	56	.	.	G	+	1	0	MCF2L	112777381	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	-1.975000	0.01498	-5.039000	0.00023	-1.996000	0.00446	GGT		0.657	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4				28	62	0	0	0	0.125774	0	28	62		
RNASE4	6038	broad.mit.edu	37	14	21167916	21167916	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:21167916G>C	ENST00000555835.1	+	2	1062	c.386G>C	c.(385-387)aGa>aCa	p.R129T	AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000304704.4_Missense_Mutation_p.R129T|RNASE4_ENST00000397995.2_Missense_Mutation_p.R129T|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.R129T	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	129					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GCGAGCACTAGACGTGTTGTC	0.527																																					Esophageal Squamous(59;1059 1362 26290 51151)	uc001vxy.3		NaN																	0				central_nervous_system(1)	1						c.(385-387)AGA>ACA		ribonuclease, RNase A family, 4 precursor							129.0	117.0	121.0					14																	21167916		2203	4300	6503	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167916G>C	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.386G>C	14.37:g.21167916G>C	ENSP00000452245:p.Arg129Thr					RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.R129T	p.R129T	NM_002937	NP_002928	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	949	+	all_cancers(95;0.00304)		129						Missense_Mutation	SNP	ENST00000555835.1	37	c.386G>C	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358462	0.61403	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.8	5.8	0.92144	Ribonuclease A, domain (4);	0.121598	0.50627	D	0.000103	T	0.68247	0.2980	M	0.86268	2.805	0.09310	N	1	D	0.69078	0.997	D	0.72338	0.977	T	0.64736	-0.6337	10	0.87932	D	0	-22.404	15.9084	0.79447	0.0:0.0:1.0:0.0	.	129	P34096	RNAS4_HUMAN	T	129	ENSP00000452245:R129T;ENSP00000381081:R129T;ENSP00000451624:R129T;ENSP00000381087:R129T;ENSP00000307096:R129T;ENSP00000381085:R129T	ENSP00000307096:R129T	R	+	2	0	AL163636.2;RNASE4	20237756	0.103000	0.21917	0.020000	0.16555	0.669000	0.39330	3.282000	0.51693	2.902000	0.99343	0.650000	0.86243	AGA		0.527	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3				88	104	0	0	0	0.139131	0	88	104		
BAZ1A	11177	broad.mit.edu	37	14	35227931	35227931	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:35227931C>G	ENST00000382422.2	-	24	4692	c.4365G>C	c.(4363-4365)ttG>ttC	p.L1455F	BAZ1A_ENST00000360310.1_Missense_Mutation_p.L1455F|BAZ1A_ENST00000358716.4_Missense_Mutation_p.L1423F			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1455	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAACAAGTTTCAAAAAAGGCC	0.373																																						uc001wsk.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(4363-4365)TTG>TTC		bromodomain adjacent to zinc finger domain, 1A							78.0	74.0	76.0					14																	35227931		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35227931C>G	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4365G>C	14.37:g.35227931C>G	ENSP00000371859:p.Leu1455Phe					BAZ1A_uc001wsl.2_Missense_Mutation_p.L1423F	p.L1455F	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	25	4933	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1455			Bromo.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.4365G>C	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.191474	0.78902	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.31510	1.49;1.49;1.49	5.46	3.6	0.41247	Bromodomain (6);Bromodomain, conserved site (1);	0.060495	0.64402	D	0.000008	T	0.31358	0.0794	M	0.64080	1.96	0.51233	D	0.999919	B;B	0.15141	0.01;0.012	B;B	0.16722	0.009;0.016	T	0.16217	-1.0410	10	0.52906	T	0.07	.	11.4494	0.50142	0.0:0.8062:0.1248:0.0691	.	1423;1455	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	F	1423;1455;1455;1107	ENSP00000351555:L1423F;ENSP00000371859:L1455F;ENSP00000353458:L1455F	ENSP00000351555:L1423F	L	-	3	2	BAZ1A	34297682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.514000	0.60482	1.272000	0.44329	0.655000	0.94253	TTG		0.373	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1				24	62	0	0	0	0.069288	0	24	62		
ZFYVE26	23503	broad.mit.edu	37	14	68264823	68264823	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:68264823C>T	ENST00000347230.4	-	11	2294	c.2156G>A	c.(2155-2157)aGa>aAa	p.R719K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R719K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	719					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGTCCATCTCTGCTTCCTGA	0.557																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(2155-2157)AGA>AAA		zinc finger, FYVE domain containing 26							72.0	74.0	73.0					14																	68264823		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68264823C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2156G>A	14.37:g.68264823C>T	ENSP00000251119:p.Arg719Lys					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R719K|ZFYVE26_uc010tta.1_Missense_Mutation_p.R719K	p.R719K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	11	2295	-			719					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.2156G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552809	0.27739	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26373	1.89;1.74	5.95	2.1	0.27182	.	0.467569	0.25900	N	0.027571	T	0.16385	0.0394	L	0.32530	0.975	0.26570	N	0.973586	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.001	T	0.25984	-1.0116	10	0.15952	T	0.53	-5.8756	9.7337	0.40376	0.0:0.6757:0.0:0.3243	.	719;719;719	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	K	719;698;719	ENSP00000251119:R719K;ENSP00000450603:R719K	ENSP00000251119:R719K	R	-	2	0	ZFYVE26	67334576	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	2.148000	0.42235	0.422000	0.26005	-0.150000	0.13652	AGA		0.557	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		62	71	0	0	0	0.139131	0	62	71		
VASH1	22846	broad.mit.edu	37	14	77242405	77242405	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:77242405G>A	ENST00000167106.4	+	5	1334	c.701G>A	c.(700-702)cGc>cAc	p.R234H	RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000554743.1_5'Flank	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	234					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CCCGCCTTCCGCACGCTCAGC	0.672																																						uc001xst.2		NaN																	0					0						c.(700-702)CGC>CAC		vasohibin 1							29.0	28.0	28.0					14																	77242405		2199	4298	6497	SO:0001583	missense	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77242405G>A	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.701G>A	14.37:g.77242405G>A	ENSP00000167106:p.Arg234His						p.R234H	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	5	1631	+			234					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.701G>A	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286647	0.95517	.	.	ENSG00000071246	ENST00000167106	.	.	.	5.22	5.22	0.72569	.	0.108387	0.64402	D	0.000006	T	0.74114	0.3674	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.76274	-0.3019	9	0.66056	D	0.02	-20.3064	18.7697	0.91887	0.0:0.0:1.0:0.0	.	234	Q7L8A9	VASH1_HUMAN	H	234	.	ENSP00000167106:R234H	R	+	2	0	VASH1	76312158	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.959000	0.87885	2.433000	0.82419	0.655000	0.94253	CGC		0.672	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1		NM_014909		7	19	0	0	0	0.038147	0	7	19		
FLRT2	23768	broad.mit.edu	37	14	86089433	86089433	+	Silent	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:86089433A>G	ENST00000330753.4	+	2	2342	c.1575A>G	c.(1573-1575)acA>acG	p.T525T	FLRT2_ENST00000554746.1_Silent_p.T525T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	525					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCAGCAACACAGCGTCCAGCC	0.577																																						uc001xvr.2		NaN																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1573-1575)ACA>ACG		fibronectin leucine rich transmembrane protein 2							96.0	95.0	96.0					14																	86089433		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089433A>G	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1575A>G	14.37:g.86089433A>G						FLRT2_uc010atd.2_Silent_p.T525T	p.T525T	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2342	+			525			Extracellular (Potential).		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.1575A>G	CCDS9877.1																																																																																				0.577	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1				21	143	0	0	0	0.055883	0	21	143		
MOAP1	64112	broad.mit.edu	37	14	93650482	93650482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:93650482C>A	ENST00000556883.1	-	2	590	c.106G>T	c.(106-108)Gag>Tag	p.E36*	TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Nonsense_Mutation_p.E36*|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	36					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		agagcctcctcgatttctgcc	0.537																																						uc001ybj.2		NaN																	0				skin(2)|ovary(1)	3						c.(106-108)GAG>TAG		modulator of apoptosis 1							118.0	131.0	127.0					14																	93650482		2203	4300	6503	SO:0001587	stop_gained	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650482C>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.106G>T	14.37:g.93650482C>A	ENSP00000451594:p.Glu36*					C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	p.E36*	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	3	476	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	36					B2RDF6|Q9H833|Q9HAS1	Nonsense_Mutation	SNP	ENST00000556883.1	37	c.106G>T	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	38	6.863744	0.97893	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	.	.	.	3.11	-0.912	0.10504	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-15.2041	4.3306	0.11062	0.0:0.413:0.3471:0.24	.	.	.	.	X	36	.	ENSP00000298894:E36X	E	-	1	0	MOAP1	92720235	0.151000	0.22747	0.032000	0.17829	0.926000	0.56050	0.220000	0.17660	-0.189000	0.10482	-0.142000	0.14014	GAG		0.537	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1				122	147	1	0	7.97055e-49	0.139131	8.90698e-49	122	147		
BCL11B	64919	broad.mit.edu	37	14	99641436	99641436	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:99641436C>T	ENST00000357195.3	-	4	1746	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	BCL11B_ENST00000443726.2_Silent_p.A385A|BCL11B_ENST00000345514.2_Silent_p.A508A	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	579	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cgccgccccccgcgcccggga	0.721			T	TLX3	T-ALL																																	uc001yga.2		NaN		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(1735-1737)GCG>GCA		B-cell CLL/lymphoma 11B isoform 1							8.0	10.0	9.0					14																	99641436		2012	3947	5959	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641436C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1737G>A	14.37:g.99641436C>T						BCL11B_uc001ygb.2_Silent_p.A508A	p.A579A	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	2004	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	579			Gly-rich.		Q9H162	Silent	SNP	ENST00000357195.3	37	c.1737G>A	CCDS9950.1																																																																																				0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2		NM_138576		8	19	0	0	0	0.047766	0	8	19		
HSP90AA1	3320	broad.mit.edu	37	14	102549376	102549376	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:102549376C>T	ENST00000216281.8	-	9	1955	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E405K|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E706K	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	584					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CATACCTTTTCAACTTTTTTC	0.343																																						uc001yku.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(1750-1752)GAA>AAA		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						94.0	85.0	88.0					14																	102549376		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549376C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1750G>A	14.37:g.102549376C>T	ENSP00000216281:p.Glu584Lys					HSP90AA1_uc001ykv.3_Missense_Mutation_p.E706K|HSP90AA1_uc001ykw.1_Missense_Mutation_p.E405K|HSP90AA1_uc001ykx.1_Missense_Mutation_p.E573K	p.E584K	NM_005348	NP_005339	P07900	HS90A_HUMAN			9	1940	-			584					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1750G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.035680	0.93630	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.13420	2.59;2.59;2.59	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	T	0.37019	0.0988	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.998	D;D;D	0.69479	0.961;0.956;0.964	T	0.31223	-0.9951	10	0.87932	D	0	-28.8515	17.4478	0.87583	0.0:1.0:0.0:0.0	.	405;706;584	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	K	584;706;405	ENSP00000216281:E584K;ENSP00000335153:E706K;ENSP00000396189:E405K	ENSP00000216281:E584K	E	-	1	0	HSP90AA1	101619129	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	7.442000	0.80503	2.192000	0.70111	0.655000	0.94253	GAA		0.343	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348		35	34	0	0	0	0.050027	0	35	34		
HERC2	8924	broad.mit.edu	37	15	28456214	28456214	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:28456214G>T	ENST00000261609.7	-	44	7111	c.7003C>A	c.(7003-7005)Cac>Aac	p.H2335N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTATCCTGGTGGGAGAGCAGC	0.502																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(7003-7005)CAC>AAC		hect domain and RLD 2							68.0	66.0	67.0					15																	28456214		2202	4297	6499	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28456214G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7003C>A	15.37:g.28456214G>T	ENSP00000261609:p.His2335Asn						p.H2335N	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	44	7109	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2335						Missense_Mutation	SNP	ENST00000261609.7	37	c.7003C>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648229	0.47258	.	.	ENSG00000128731	ENST00000261609	T	0.37584	1.19	4.84	4.84	0.62591	.	0.121657	0.53938	D	0.000041	T	0.35278	0.0926	L	0.54323	1.7	0.80722	D	1	B	0.34214	0.442	B	0.29353	0.101	T	0.20240	-1.0281	10	0.39692	T	0.17	.	18.1363	0.89620	0.0:0.0:1.0:0.0	.	2335	O95714	HERC2_HUMAN	N	2335	ENSP00000261609:H2335N	ENSP00000261609:H2335N	H	-	1	0	HERC2	26129809	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.803000	0.85983	2.497000	0.84241	0.561000	0.74099	CAC		0.502	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		19	116	1	0	1.56452e-12	0.043863	1.67073e-12	19	116		
SEMA6D	80031	broad.mit.edu	37	15	48057100	48057100	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:48057100C>T	ENST00000316364.5	+	13	1713	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	SEMA6D_ENST00000536845.2_Missense_Mutation_p.S425L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S425L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S425L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S425L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S425L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S425L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S425L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S425L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S425L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S425L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S425L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	425	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACGGCCATCTCAGTGGACCAT	0.512																																						uc010bek.2		NaN																	0				skin(3)|breast(1)	4						c.(1273-1275)TCA>TTA		semaphorin 6D isoform 4 precursor							81.0	71.0	74.0					15																	48057100		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48057100C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1274C>T	15.37:g.48057100C>T	ENSP00000324857:p.Ser425Leu					SEMA6D_uc001zvw.2_Missense_Mutation_p.S425L|SEMA6D_uc001zvx.1_Missense_Mutation_p.S425L|SEMA6D_uc001zvy.2_Missense_Mutation_p.S425L|SEMA6D_uc001zvz.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwa.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwb.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwc.2_Missense_Mutation_p.S425L	p.S425L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	13	1634	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	425			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1274C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863730	0.51482	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.59	4.65	0.58169	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.102320	0.64402	D	0.000002	T	0.15132	0.0365	N	0.14661	0.345	0.28752	N	0.901381	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.15870	0.0;0.001;0.0;0.014;0.0	T	0.12630	-1.0540	10	0.87932	D	0	.	15.4108	0.74917	0.1443:0.8557:0.0:0.0	.	425;425;425;425;425	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	L	425	ENSP00000442040:S425L;ENSP00000446152:S425L;ENSP00000324857:S425L;ENSP00000374084:S425L;ENSP00000374083:S425L;ENSP00000346786:S425L;ENSP00000350770:S425L;ENSP00000374079:S425L;ENSP00000348276:S425L;ENSP00000374076:S425L	ENSP00000324857:S425L	S	+	2	0	SEMA6D	45844392	1.000000	0.71417	0.552000	0.28243	0.164000	0.22412	6.104000	0.71498	1.296000	0.44742	0.655000	0.94253	TCA		0.512	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		NM_024966		22	60	0	0	0	0.055883	0	22	60		
MYO9A	4649	broad.mit.edu	37	15	72122642	72122642	+	Missense_Mutation	SNP	C	C	T	rs142345927	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:72122642C>T	ENST00000356056.5	-	40	7320	c.6848G>A	c.(6847-6849)cGt>cAt	p.R2283H	MYO9A_ENST00000444904.1_Missense_Mutation_p.R2264H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2283H|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2354H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2283	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R2283H(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCGACGAATACGCCCCTTTCC	0.443													C|||	8	0.00159744	0.0	0.0043	5008	,	,		19733	0.0		0.005	False		,,,				2504	0.0					uc002atl.3		NaN																	1	Substitution - Missense(1)	p.R2283H(1)	ovary(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(6847-6849)CGT>CAT		myosin IXA		C	HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	84.0	85.0	85.0		6848	3.8	0.9	15	dbSNP_134	85	37,8557	25.1+/-72.6	0,37,4260	yes	missense	MYO9A	NM_006901.2	29	0,40,6456	TT,TC,CC		0.4305,0.0682,0.3079	probably-damaging	2283/2549	72122642	40,12952	2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72122642C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6848G>A	15.37:g.72122642C>T	ENSP00000348349:p.Arg2283His					MYO9A_uc002atj.2_Missense_Mutation_p.R214H|MYO9A_uc002atk.2_Missense_Mutation_p.R1078H	p.R2283H	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			40	7321	-			2283			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6848G>A	CCDS10239.1	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	18.98	3.738190	0.69304	6.82E-4	0.004305	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84873	-1.9;-1.91;-1.9	4.73	3.81	0.43845	.	.	.	.	.	T	0.72598	0.3480	L	0.36672	1.1	0.40501	D	0.980645	B;B	0.22541	0.071;0.007	B;B	0.14578	0.011;0.002	T	0.73616	-0.3926	9	0.44086	T	0.13	.	13.4795	0.61328	0.0:0.9237:0.0:0.0763	.	2283;2047	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	H	2283;2354;2264	ENSP00000348349:R2283H;ENSP00000399162:R2354H;ENSP00000398250:R2264H	ENSP00000348349:R2283H	R	-	2	0	MYO9A	69909696	0.958000	0.32768	0.941000	0.38009	0.998000	0.95712	2.206000	0.42779	1.348000	0.45733	0.655000	0.94253	CGT		0.443	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901		4	89	0	0	0	0.009096	0	4	89		
ULK3	25989	broad.mit.edu	37	15	75134485	75134485	+	Silent	SNP	G	G	A	rs188373666	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:75134485G>A	ENST00000440863.2	-	3	386	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	ULK3_ENST00000568667.1_Silent_p.L110L|ULK3_ENST00000569437.1_Silent_p.L99L	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	99	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						AAGCGAGACAGGTCGCCCCCT	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		16414	0.0		0.001	False		,,,				2504	0.001					uc010bkf.1		NaN																	0				breast(2)	2						c.(295-297)CTG>TTG		unc-51-like kinase 3		G		0,4274		0,0,2137	105.0	114.0	111.0		295	3.7	1.0	15		111	7,8479		0,7,4236	no	coding-synonymous	ULK3	NM_001099436.1		0,7,6373	AA,AG,GG		0.0825,0.0,0.0549		99/473	75134485	7,12753	2137	4243	6380	SO:0001819	synonymous_variant	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134485G>A	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.295C>T	15.37:g.75134485G>A						ULK3_uc010ulp.1_Silent_p.L9L|ULK3_uc010ulq.1_Silent_p.L110L|ULK3_uc010ulr.1_Intron|ULK3_uc002ayv.2_Silent_p.L99L|ULK3_uc010uls.1_Intron|ULK3_uc010ult.1_Silent_p.L9L|ULK3_uc010ulu.1_Silent_p.L9L	p.L99L	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN			3	401	-			99			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Silent	SNP	ENST00000440863.2	37	c.295C>T	CCDS45305.1																																																																																				0.547	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4		NM_015518		5	104	0	0	0	0.014758	0	5	104		
AEN	64782	broad.mit.edu	37	15	89173447	89173447	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:89173447G>A	ENST00000332810.3	+	4	1051	c.900G>A	c.(898-900)atG>atA	p.M300I	AEN_ENST00000379231.3_Missense_Mutation_p.M300I	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	300					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AACAGTACATGGAGGACCAGT	0.647																																						uc002bmt.2		NaN																	0					0						c.(898-900)ATG>ATA		interferon stimulated exonuclease gene							32.0	31.0	32.0					15																	89173447		2200	4298	6498	SO:0001583	missense	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89173447G>A	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.900G>A	15.37:g.89173447G>A	ENSP00000331944:p.Met300Ile					AEN_uc010bnm.1_Missense_Mutation_p.M300I	p.M300I	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN			4	1051	+			300					C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	37	c.900G>A	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295551	0.81025	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.19394	2.16;2.15	5.63	4.7	0.59300	.	36.250800	0.00496	N	0.000149	T	0.39886	0.1095	M	0.69823	2.125	0.41445	D	0.987943	P;P	0.52577	0.891;0.954	P;P	0.47206	0.487;0.541	T	0.11275	-1.0594	10	0.45353	T	0.12	-6.7758	14.9036	0.70699	0.0:0.0:0.8554:0.1445	.	300;300	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	I	300	ENSP00000331944:M300I;ENSP00000368533:M300I	ENSP00000331944:M300I	M	+	3	0	AEN	86974451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.806000	0.62569	1.347000	0.45714	0.563000	0.77884	ATG		0.647	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1		NM_022767		5	8	0	0	0	0.014758	0	5	8		
GRIN2A	2903	broad.mit.edu	37	16	9857673	9857673	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:9857673C>A	ENST00000396573.2	-	14	4037	c.3728G>T	c.(3727-3729)gGg>gTg	p.G1243V	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G1243V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G1243V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G1243V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G1086V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G1243V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1243					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATAGAGGTTCCCCATCCGCAG	0.572																																						uc002czo.3		NaN																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3727-3729)GGG>GTG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						126.0	121.0	123.0					16																	9857673		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857673C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3728G>T	16.37:g.9857673C>A	ENSP00000379818:p.Gly1243Val					GRIN2A_uc010uym.1_Missense_Mutation_p.G1243V|GRIN2A_uc010uyn.1_Missense_Mutation_p.G1086V|GRIN2A_uc002czr.3_Missense_Mutation_p.G1243V	p.G1243V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4276	-			1243			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3728G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014905	0.54468	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.20881	2.04;2.19;2.23;2.04;2.04	5.11	5.11	0.69529	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.094831	0.64402	D	0.000001	T	0.50171	0.1600	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.91635	0.969;0.989;0.999	T	0.52734	-0.8536	9	.	.	.	.	17.5377	0.87837	0.0:1.0:0.0:0.0	.	1086;1243;1243	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	1243;1243;1086;1243;1243	ENSP00000379818:G1243V;ENSP00000385872:G1243V;ENSP00000441572:G1086V;ENSP00000332549:G1243V;ENSP00000379820:G1243V	.	G	-	2	0	GRIN2A	9765174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.832000	0.69337	2.365000	0.80145	0.655000	0.94253	GGG		0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				68	52	1	0	1.50372e-20	0.139131	1.63136e-20	68	52		
NDE1	54820	broad.mit.edu	37	16	15758666	15758666	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:15758666G>A	ENST00000396353.2	+	3	857	c.31G>A	c.(31-33)Gag>Aag	p.E11K	NDE1_ENST00000396354.1_Missense_Mutation_p.E11K|NDE1_ENST00000342673.5_Missense_Mutation_p.E11K|NDE1_ENST00000396355.1_Missense_Mutation_p.E11K			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	11	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTTCAGCTCCGAGGAGGAAGA	0.433																																						uc002ddt.1		NaN																	0				ovary(1)	1						c.(31-33)GAG>AAG		nuclear distribution gene E homolog 1							129.0	131.0	130.0					16																	15758666		2197	4300	6497	SO:0001583	missense	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15758666G>A	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.31G>A	16.37:g.15758666G>A	ENSP00000379641:p.Glu11Lys					NDE1_uc010uzy.1_Missense_Mutation_p.E11K|NDE1_uc002dds.2_Missense_Mutation_p.E11K	p.E11K	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN			1	74	+			11			Self-association (By similarity).		Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	G	7.274	0.607827	0.14002	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.02	4.04	0.47022	.	0.232223	0.42053	D	0.000772	T	0.10035	0.0246	N	0.01168	-0.975	0.32233	N	0.573745	P;B	0.38711	0.643;0.008	B;B	0.26614	0.071;0.007	T	0.26018	-1.0115	9	0.05959	T	0.93	-16.5723	14.6608	0.68870	0.0:0.1463:0.8537:0.0	.	11;11	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	K	11	.	ENSP00000345892:E11K	E	+	1	0	NDE1	15666167	0.998000	0.40836	0.895000	0.35142	0.966000	0.64601	2.791000	0.47829	1.186000	0.42985	0.655000	0.94253	GAG		0.433	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017668		46	98	0	0	0	0.139131	0	46	98		
XYLT1	64131	broad.mit.edu	37	16	17211827	17211827	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:17211827C>T	ENST00000261381.6	-	11	2317	c.2233G>A	c.(2233-2235)Gac>Aac	p.D745N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	745					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCATCCCAGTCAGTGCCGACC	0.547																																						uc002dfa.2		NaN																	0				ovary(4)	4						c.(2233-2235)GAC>AAC		xylosyltransferase I							58.0	52.0	54.0					16																	17211827		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211827C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2233G>A	16.37:g.17211827C>T	ENSP00000261381:p.Asp745Asn						p.D745N	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			11	2318	-			745	D->G: Abolishes enzyme activity but does not affect UDP-binding.|D->E: No effect.		Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2233G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014717	0.93404	.	.	ENSG00000103489	ENST00000261381	T	0.42900	0.96	5.19	5.19	0.71726	.	0.138758	0.64402	D	0.000004	T	0.58018	0.2093	L	0.49640	1.575	0.80722	D	1	D	0.63880	0.993	D	0.65140	0.932	T	0.54675	-0.8258	10	0.41790	T	0.15	-51.4708	18.0823	0.89444	0.0:1.0:0.0:0.0	.	745	Q86Y38	XYLT1_HUMAN	N	745	ENSP00000261381:D745N	ENSP00000261381:D745N	D	-	1	0	XYLT1	17119328	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	7.625000	0.83145	2.575000	0.86900	0.462000	0.41574	GAC		0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2		NM_022166		11	56	0	0	0	0.105934	0	11	56		
KIAA0556	23247	broad.mit.edu	37	16	27761548	27761548	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:27761548G>A	ENST00000261588.4	+	16	3286	c.3267G>A	c.(3265-3267)gtG>gtA	p.V1089V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1089						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCGAGGCGTGAAGGACATCA	0.502																																						uc002dow.2		NaN																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(3265-3267)GTG>GTA		hypothetical protein LOC23247							91.0	90.0	90.0					16																	27761548		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27761548G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3267G>A	16.37:g.27761548G>A							p.V1089V	NM_015202	NP_056017	O60303	K0556_HUMAN			16	3291	+			1089					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.3267G>A	CCDS32415.1																																																																																				0.502	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1		NM_015202		41	72	0	0	0	0.086207	0	41	72		
ATXN2L	11273	broad.mit.edu	37	16	28840778	28840778	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:28840778G>A	ENST00000336783.4	+	7	965	c.798G>A	c.(796-798)gtG>gtA	p.V266V	ATXN2L_ENST00000395547.2_Silent_p.V266V|ATXN2L_ENST00000340394.8_Silent_p.V266V|ATXN2L_ENST00000570200.1_Silent_p.V266V|ATXN2L_ENST00000564304.1_Silent_p.V266V|ATXN2L_ENST00000382686.4_Silent_p.V266V|ATXN2L_ENST00000325215.6_Silent_p.V266V|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	266					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACTACGGTGTGAAGACTACCT	0.458																																						uc002drc.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(796-798)GTG>GTA		ataxin 2 related protein isoform A							190.0	160.0	170.0					16																	28840778		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28840778G>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.798G>A	16.37:g.28840778G>A						uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.V266V|ATXN2L_uc002drb.2_Silent_p.V266V|ATXN2L_uc002dqy.2_Silent_p.V266V|ATXN2L_uc002dra.2_Silent_p.V266V|ATXN2L_uc002dqz.2_Silent_p.V266V|ATXN2L_uc010vdb.1_Silent_p.V266V|ATXN2L_uc002dre.2_Silent_p.V266V|ATXN2L_uc002drf.2_Intron	p.V266V	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			7	966	+			266					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.798G>A	CCDS10641.1																																																																																				0.458	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1		NM_007245		6	58	0	0	0	0.02938	0	6	58		
SEZ6L2	26470	broad.mit.edu	37	16	29900017	29900017	+	Missense_Mutation	SNP	G	G	A	rs545967635		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:29900017G>A	ENST00000308713.5	-	6	1410	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R225W|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R181W|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R251W	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	295	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGCCGGCCGGGGAGGGAAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17457	0.0		0.001	False		,,,				2504	0.0					uc002duq.3		NaN																	0				ovary(1)|skin(1)	2						c.(883-885)CGG>TGG		seizure related 6 homolog (mouse)-like 2 isoform							37.0	36.0	37.0					16																	29900017		2197	4299	6496	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29900017G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.883C>T	16.37:g.29900017G>A	ENSP00000312550:p.Arg295Trp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.R225W|SEZ6L2_uc002dur.3_Missense_Mutation_p.R225W|SEZ6L2_uc002dus.3_Missense_Mutation_p.R181W|SEZ6L2_uc010vec.1_Missense_Mutation_p.R295W|SEZ6L2_uc010ved.1_Missense_Mutation_p.R251W	p.R295W	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			6	1123	-			295			Sushi 1.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.883C>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303710	0.81136	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.52	5.52	0.82312	Complement control module (2);Sushi/SCR/CCP (3);	0.137794	0.33477	N	0.004873	D	0.83321	0.5229	M	0.89785	3.06	0.31417	N	0.67483	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79108	0.992;0.987;0.987;0.968;0.981;0.978	D	0.86005	0.1497	10	0.72032	D	0.01	.	18.2682	0.90059	0.0:0.0:1.0:0.0	.	251;295;181;225;295;225	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	W	225;295;181;251	ENSP00000310206:R225W;ENSP00000312550:R295W;ENSP00000319215:R181W;ENSP00000439412:R251W	ENSP00000312550:R295W	R	-	1	2	SEZ6L2	29807518	0.001000	0.12720	1.000000	0.80357	0.988000	0.76386	0.933000	0.28897	2.611000	0.88343	0.650000	0.86243	CGG		0.642	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2		NM_012410		23	30	0	0	0	0.099896	0	23	30		
STX4	6810	broad.mit.edu	37	16	31051055	31051055	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:31051055G>C	ENST00000313843.3	+	10	1140	c.825G>C	c.(823-825)ttG>ttC	p.L275F	STX4_ENST00000394998.1_Missense_Mutation_p.L273F|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	275	Interaction with CENPF. {ECO:0000250}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						AGAAAGTCTTGATTGCCATCT	0.572																																						uc002eal.2		NaN																	0					0						c.(823-825)TTG>TTC		syntaxin 4							293.0	224.0	247.0					16																	31051055		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31051055G>C	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.825G>C	16.37:g.31051055G>C	ENSP00000317714:p.Leu275Phe					STX4_uc002eak.2_Missense_Mutation_p.L273F|STX4_uc002eam.2_Missense_Mutation_p.L197F|uc002ean.1_5'Flank	p.L275F	NM_004604	NP_004595	Q12846	STX4_HUMAN			10	1049	+			275			Cytoplasmic (Potential).|Interaction with CENPF (By similarity).		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.825G>C	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948352	0.34377	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.37058	1.22;1.41	6.08	2.9	0.33743	.	0.837511	0.11167	N	0.592441	T	0.16385	0.0394	N	0.02315	-0.6	0.23435	N	0.997689	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21075	-1.0256	10	0.28530	T	0.3	-11.123	11.3323	0.49484	0.0:0.3564:0.5073:0.1363	.	275;273	Q12846;A8MXY0	STX4_HUMAN;.	F	273;275	ENSP00000378447:L273F;ENSP00000317714:L275F	ENSP00000317714:L275F	L	+	3	2	STX4	30958556	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	1.629000	0.37071	0.856000	0.35383	0.655000	0.94253	TTG		0.572	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3		NM_004604		80	181	0	0	0	0.139131	0	80	181		
KARS	3735	broad.mit.edu	37	16	75670391	75670391	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:75670391C>T	ENST00000302445.3	-	4	482	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	KARS_ENST00000319410.5_Missense_Mutation_p.R176Q|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	148					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CCCCTCTCCTCGAAGATCATA	0.453																																						uc002feq.2		NaN																	0				ovary(2)	2						c.(442-444)CGA>CAA		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						153.0	150.0	151.0					16																	75670391		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75670391C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.443G>A	16.37:g.75670391C>T	ENSP00000303043:p.Arg148Gln					KARS_uc002fer.2_Missense_Mutation_p.R176Q|KARS_uc002fes.2_5'UTR|KARS_uc010cgz.2_5'UTR	p.R148Q	NM_005548	NP_005539	Q15046	SYK_HUMAN			4	491	-			148					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.443G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453667	0.84209	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.24908	1.83;1.83	5.96	5.96	0.96718	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.48362	1.52	0.80722	D	1	B;D	0.59357	0.168;0.985	B;P	0.49752	0.013;0.621	T	0.01448	-1.1352	10	0.13470	T	0.59	-32.7796	19.0001	0.92830	0.0:1.0:0.0:0.0	.	176;148	Q15046-2;Q15046	.;SYK_HUMAN	Q	176;148	ENSP00000325448:R176Q;ENSP00000303043:R148Q	ENSP00000303043:R148Q	R	-	2	0	KARS	74227892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.603000	0.82811	2.832000	0.97577	0.655000	0.94253	CGA		0.453	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1		NM_005548		38	223	0	0	0	0.09836	0	38	223		
ADAMTS18	170692	broad.mit.edu	37	16	77356322	77356322	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:77356322C>G	ENST00000282849.5	-	14	2492	c.2074G>C	c.(2074-2076)Gaa>Caa	p.E692Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	692	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AAAAAAAATTCAAAGTTCTCA	0.393																																						uc002ffc.3		NaN																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2074-2076)GAA>CAA		ADAM metallopeptidase with thrombospondin type 1							142.0	140.0	141.0					16																	77356322		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356322C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2074G>C	16.37:g.77356322C>G	ENSP00000282849:p.Glu692Gln					ADAMTS18_uc010chc.1_Missense_Mutation_p.E280Q|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E388Q	p.E692Q	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			14	2493	-			692			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2074G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428909	0.83667	.	.	ENSG00000140873	ENST00000282849	T	0.03663	3.85	5.93	5.93	0.95920	.	0.054196	0.64402	D	0.000001	T	0.04861	0.0131	N	0.25201	0.72	0.51767	D	0.999938	B;B	0.33883	0.01;0.43	B;B	0.36335	0.037;0.222	T	0.53975	-0.8362	10	0.41790	T	0.15	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	692;692	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	Q	692	ENSP00000282849:E692Q	ENSP00000282849:E692Q	E	-	1	0	ADAMTS18	75913823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.480000	0.81109	2.826000	0.97356	0.655000	0.94253	GAA		0.393	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				17	102	0	0	0	0.038395	0	17	102		
CENPN	55839	broad.mit.edu	37	16	81045675	81045675	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:81045675G>A	ENST00000305850.5	+	2	921	c.131G>A	c.(130-132)aGa>aAa	p.R44K	CENPN_ENST00000393335.3_Missense_Mutation_p.R44K|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000299572.5_Missense_Mutation_p.R44K|CENPN_ENST00000439957.3_Missense_Mutation_p.R44K|CENPN_ENST00000428963.2_Missense_Mutation_p.R44K|CMC2_ENST00000565914.1_Intron	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	44					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						TTCCGACAGAGAAAGGAATCT	0.418																																						uc002ffx.2		NaN																	0					0						c.(130-132)AGA>AAA		centromere protein N isoform 2							89.0	89.0	89.0					16																	81045675		2203	4300	6503	SO:0001583	missense	55839				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr16:81045675G>A	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.131G>A	16.37:g.81045675G>A	ENSP00000305608:p.Arg44Lys					CENPN_uc002ffw.3_Missense_Mutation_p.R44K|CENPN_uc010vnl.1_Missense_Mutation_p.R44K|CENPN_uc010vnm.1_Missense_Mutation_p.R44K|CENPN_uc002ffy.3_Missense_Mutation_p.R44K	p.R44K	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN			2	921	+			44					A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000305850.5	37	c.131G>A	CCDS42200.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128211	0.37533	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.64	4.63	0.57726	.	0.417166	0.28338	N	0.015712	T	0.15349	0.0370	M	0.63428	1.95	0.18873	N	0.999989	B;B;B;B;B	0.30709	0.08;0.16;0.178;0.08;0.291	B;B;B;B;B	0.27380	0.017;0.079;0.065;0.032;0.061	T	0.27971	-1.0058	10	0.08179	T	0.78	-15.6818	3.7167	0.08441	0.0776:0.2439:0.4382:0.2402	.	44;44;44;44;44	E7ETS3;E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;.;CENPN_HUMAN;.	K	44	ENSP00000305608:R44K;ENSP00000299572:R44K;ENSP00000395235:R44K;ENSP00000377007:R44K;ENSP00000393991:R44K	ENSP00000299572:R44K	R	+	2	0	CENPN	79603176	0.187000	0.23238	0.992000	0.48379	0.882000	0.50991	0.672000	0.25187	2.662000	0.90505	0.655000	0.94253	AGA		0.418	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1		NM_018455		11	79	0	0	0	0.069234	0	11	79		
PKD1L2	114780	broad.mit.edu	37	16	81194496	81194496	+	RNA	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:81194496C>T	ENST00000525539.1	-	0	3491				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTGTGAATGCCGGGGCAGCA	0.562																																						uc002fgh.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3490-3492)CGG>CGA		polycystin 1-like 2 isoform a							73.0	77.0	75.0					16																	81194496		2135	4255	6390			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81194496C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81194496C>T						PKD1L2_uc002fgg.1_RNA	p.R1164R	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			22	3492	-			1164			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.3492G>A																																																																																					0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2				3	51	0	0	0	0.009096	0	3	51		
ZC3H18	124245	broad.mit.edu	37	16	88644047	88644047	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:88644047G>C	ENST00000301011.5	+	2	716	c.516G>C	c.(514-516)caG>caC	p.Q172H	ZC3H18_ENST00000452588.2_Missense_Mutation_p.Q172H	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	172						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTGGTGTTCAGAGTGTGGGAG	0.557																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NaN																	0				skin(1)	1						c.(514-516)CAG>CAC		zinc finger CCCH-type containing 18							53.0	60.0	58.0					16																	88644047		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88644047G>C	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.516G>C	16.37:g.88644047G>C	ENSP00000301011:p.Gln172His					ZC3H18_uc010voy.1_Intron|ZC3H18_uc010voz.1_Missense_Mutation_p.Q172H|ZC3H18_uc010vpa.1_Missense_Mutation_p.Q172H	p.Q172H	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	716	+			172					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.516G>C	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	3.851	-0.031812	0.07543	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.32753	1.44;1.47	5.4	-5.66	0.02451	.	1.056150	0.07300	N	0.873989	T	0.12092	0.0294	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25117	-1.0141	10	0.40728	T	0.16	-0.5498	3.9405	0.09325	0.5193:0.2232:0.1742:0.0833	.	172;172	E7ERS3;Q86VM9	.;ZCH18_HUMAN	H	172	ENSP00000301011:Q172H;ENSP00000416951:Q172H	ENSP00000289509:Q172H	Q	+	3	2	ZC3H18	87171548	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.838000	0.04372	-0.843000	0.04189	-0.367000	0.07326	CAG		0.557	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604		7	60	0	0	0	0.058154	0	7	60		
CDT1	81620	broad.mit.edu	37	16	88870299	88870299	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:88870299C>G	ENST00000301019.4	+	1	679	c.60C>G	c.(58-60)atC>atG	p.I20M		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ccccccgcATCGCGCCGCCCA	0.781																																					Melanoma(159;511 3380 30971)	uc002flu.2		NaN																	0				central_nervous_system(1)	1						c.(58-60)ATC>ATG		chromatin licensing and DNA replication factor							6.0	8.0	7.0					16																	88870299		941	2236	3177	SO:0001583	missense	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88870299C>G	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.60C>G	16.37:g.88870299C>G	ENSP00000301019:p.Ile20Met						p.I20M	NM_030928	NP_112190	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	1	114	+			20			PIP-box K+4 motif.			Missense_Mutation	SNP	ENST00000301019.4	37	c.60C>G	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674664	0.29693	.	.	ENSG00000167513	ENST00000301019	T	0.61274	0.12	3.42	-2.78	0.05859	.	34.570200	0.00166	U	0.000018	T	0.35158	0.0922	N	0.14661	0.345	0.09310	N	1	P	0.42248	0.774	B	0.30943	0.122	T	0.39272	-0.9622	10	0.46703	T	0.11	4.1431	8.4031	0.32599	0.0:0.2781:0.5959:0.126	.	20	Q9H211	CDT1_HUMAN	M	20	ENSP00000301019:I20M	ENSP00000301019:I20M	I	+	3	3	CDT1	87397800	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.119000	0.10676	-0.629000	0.05575	0.289000	0.19496	ATC		0.781	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1		NM_030928		2	7	0	0	0	0.115264	0	2	7		
TCF25	22980	broad.mit.edu	37	16	89952289	89952289	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:89952289G>C	ENST00000263346.8	+	4	519	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	TCF25_ENST00000263347.7_5'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	155					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCGCATCCTAGAGAGGATTGA	0.498																																						uc002fpb.2		NaN																	0					0						c.(463-465)GAG>CAG		NULP1							133.0	123.0	126.0					16																	89952289		2198	4300	6498	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89952289G>C	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.463G>C	16.37:g.89952289G>C	ENSP00000263346:p.Glu155Gln					TCF25_uc002fpc.2_5'UTR	p.E155Q	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	4	545	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	155					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.463G>C	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164209	0.57476	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	4.41	4.41	0.53225	.	0.100700	0.64402	D	0.000003	T	0.38214	0.1032	L	0.29908	0.895	0.80722	D	1	P	0.37141	0.584	B	0.34180	0.177	T	0.19516	-1.0303	9	0.30854	T	0.27	.	12.8064	0.57616	0.0:0.0:1.0:0.0	.	155	Q9BQ70	TCF25_HUMAN	Q	155	.	ENSP00000263346:E155Q	E	+	1	0	TCF25	88479790	1.000000	0.71417	0.963000	0.40424	0.330000	0.28571	5.148000	0.64857	2.739000	0.93911	0.655000	0.94253	GAG		0.498	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2		NM_014972		48	60	0	0	0	0.139131	0	48	60		
VPS53	55275	broad.mit.edu	37	17	556596	556596	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:556596C>T	ENST00000571805.1	-	7	679	c.543G>A	c.(541-543)gtG>gtA	p.V181V	VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.V152V|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000437048.2_Silent_p.V181V			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	181					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGACATTCATCACACCCTGAA	0.448																																						uc002frn.2		NaN																	0					0						c.(541-543)GTG>GTA		vacuolar protein sorting 53 isoform 2							153.0	145.0	148.0					17																	556596		2203	4300	6503	SO:0001819	synonymous_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:556596C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.543G>A	17.37:g.556596C>T						VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Silent_p.V181V|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.V152V|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Intron	p.V181V	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	7	690	-			181					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37	c.543G>A																																																																																					0.448	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2		NM_018289		23	265	0	0	0	0.076483	0	23	265		
P2RX5	5026	broad.mit.edu	37	17	3593444	3593444	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:3593444C>T	ENST00000225328.5	-	6	932	c.534G>A	c.(532-534)gaG>gaA	p.E178E	P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000345901.3_Splice_Site_p.E154E|P2RX5_ENST00000435558.1_Splice_Site_p.E178E|P2RX5_ENST00000551178.1_Splice_Site_p.E154E|P2RX5-TAX1BP3_ENST00000550383.1_Splice_Site_p.E178E|P2RX5_ENST00000547178.1_Splice_Site_p.E178E|P2RX5_ENST00000552050.1_Splice_Site_p.E118E|P2RX5_ENST00000552276.1_Splice_Site_p.E178E	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	178					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGAATGGCTCCCTGAAAACCA	0.577																																						uc002fwi.2		NaN																	0					0						c.(532-534)GAG>GAA		purinergic receptor P2X5 isoform A							121.0	135.0	130.0					17																	3593444		2203	4300	6503	SO:0001630	splice_region_variant	5026				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3593444C>T	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.534-1G>A	17.37:g.3593444C>T						P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Silent_p.E178E|P2RX5_uc010vrx.1_Silent_p.E118E|P2RX5_uc002fwj.2_Silent_p.E154E|P2RX5_uc002fwk.2_Silent_p.E178E|P2RX5_uc002fwl.2_Silent_p.E154E	p.E178E	NM_002561	NP_002552	Q93086	P2RX5_HUMAN			6	818	-			178			Extracellular (Potential).		G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Silent	SNP	ENST00000225328.5	37	c.534G>A	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376909	0.42105	.	.	ENSG00000083454	ENST00000552723	.	.	.	5.34	4.37	0.52481	.	.	.	.	.	T	0.69079	0.3071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68307	-0.5443	4	.	.	.	.	13.2934	0.60284	0.0:0.9234:0.0:0.0766	.	.	.	.	R	126	.	.	G	-	1	0	P2RX5	3540193	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.761000	0.38440	1.383000	0.46405	0.655000	0.94253	GGA		0.577	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3		NM_002561, NM_175080, NM_175081	Silent	50	190	0	0	0	0.139131	0	50	190		
ZNF232	7775	broad.mit.edu	37	17	5009425	5009425	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:5009425G>A	ENST00000250076.3	-	5	1683	c.1029C>T	c.(1027-1029)agC>agT	p.S343S	ZNF232_ENST00000575898.1_Silent_p.S334S|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	316					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CGAGGTTTGAGCTCTGTTTGA	0.433																																						uc002gas.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(946-948)AGC>AGT		zinc finger protein 232							114.0	115.0	115.0					17																	5009425		2203	4300	6503	SO:0001819	synonymous_variant	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009425G>A	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1029C>T	17.37:g.5009425G>A						ZNF232_uc002gar.1_Silent_p.S334S|ZNF232_uc002gat.2_Silent_p.S343S	p.S316S	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1702	-			316			C2H2-type 2.			Silent	SNP	ENST00000250076.3	37	c.948C>T	CCDS11068.1																																																																																				0.433	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1		NM_014519		11	206	0	0	0	0.080935	0	11	206		
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	rs587782144		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		17	25	0	0	0	0.0333	0	17	25		
CTC1	80169	broad.mit.edu	37	17	8141719	8141719	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:8141719C>G	ENST00000315684.8	-	3	433	c.426G>C	c.(424-426)ctG>ctC	p.L142L	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	142					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCTCACAGCTCAGGACGCCAG	0.488																																						uc002gkq.3		NaN																	0					0						c.(424-426)CTG>CTC		alpha accessory factor 132							146.0	146.0	146.0					17																	8141719		2041	4202	6243	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141719C>G	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.426G>C	17.37:g.8141719C>G						C17orf68_uc010cnv.2_RNA	p.L142L	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			3	485	-			142					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.426G>C	CCDS42259.1																																																																																				0.488	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1		NM_025099		36	224	0	0	0	0.074837	0	36	224		
MYH13	8735	broad.mit.edu	37	17	10235464	10235464	+	Silent	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:10235464G>T	ENST00000418404.3	-	19	2413	c.2250C>A	c.(2248-2250)ctC>ctA	p.L750L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L750L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	750	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L750L(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGATGGAGTTGAGGAGCTTCT	0.552																																						uc002gmk.1		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(2248-2250)CTC>CTA		myosin, heavy polypeptide 13, skeletal muscle							144.0	148.0	147.0					17																	10235464		2077	4234	6311	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10235464G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2250C>A	17.37:g.10235464G>T							p.L750L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			20	2340	-			750			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.2250C>A	CCDS45613.1																																																																																				0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		14	130	1	0	1.05317e-09	0.11911	1.11017e-09	14	130		
MYH1	4619	broad.mit.edu	37	17	10415489	10415489	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:10415489G>C	ENST00000226207.5	-	13	1262	c.1168C>G	c.(1168-1170)Ctc>Gtc	p.L390V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	390	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGATTTTGGAGATAGGCTGCC	0.453																																						uc002gmo.2		NaN																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1168-1170)CTC>GTC		myosin, heavy chain 1, skeletal muscle, adult							186.0	177.0	180.0					17																	10415489		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415489G>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1168C>G	17.37:g.10415489G>C	ENSP00000226207:p.Leu390Val					uc002gml.1_Intron	p.L390V	NM_005963	NP_005954	P12882	MYH1_HUMAN			13	1262	-			390			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1168C>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209290	0.58343	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.81163	-1.46	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.38381	U	0.001715	D	0.92120	0.7502	H	0.95294	3.65	0.53005	D	0.99996	D	0.60160	0.987	D	0.74348	0.983	D	0.93592	0.6922	10	0.87932	D	0	.	13.0056	0.58703	0.0738:0.0:0.9262:0.0	.	390	P12882	MYH1_HUMAN	V	390	ENSP00000226207:L390V	ENSP00000226207:L390V	L	-	1	0	MYH1	10356214	1.000000	0.71417	0.999000	0.59377	0.397000	0.30659	5.693000	0.68264	2.746000	0.94184	0.655000	0.94253	CTC		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		238	219	0	0	0	0.139131	0	238	219		
MYH3	4621	broad.mit.edu	37	17	10542949	10542949	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:10542949G>C	ENST00000583535.1	-	23	2940	c.2853C>G	c.(2851-2853)ctC>ctG	p.L951L	MYH3_ENST00000226209.7_Silent_p.L951L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	951					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTCTTTCTTGAGCTCTGAGC	0.478																																						uc002gmq.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2851-2853)CTC>CTG		myosin, heavy chain 3, skeletal muscle,							345.0	321.0	329.0					17																	10542949		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10542949G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2853C>G	17.37:g.10542949G>C							p.L951L	NM_002470	NP_002461	P11055	MYH3_HUMAN			22	2930	-			951			Potential.		Q15492	Silent	SNP	ENST00000583535.1	37	c.2853C>G	CCDS11157.1																																																																																				0.478	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		117	297	0	0	0	0.139131	0	117	297		
LGALS9	3965	broad.mit.edu	37	17	25967659	25967659	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:25967659C>T	ENST00000395473.2	+	3	1661	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Missense_Mutation_p.R65W|LGALS9_ENST00000448970.2_3'UTR|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.R65W|LGALS9_ENST00000302228.5_Missense_Mutation_p.R65W	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	65	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CTTCAACCCTCGGTTTGAAGA	0.537																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	uc002gzp.2		NaN																	0					0						c.(193-195)CGG>TGG		galectin-9 isoform long							128.0	123.0	125.0					17																	25967659		2203	4300	6503	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25967659C>T	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.193C>T	17.37:g.25967659C>T	ENSP00000378856:p.Arg65Trp					LGALS9_uc002gzq.2_Missense_Mutation_p.R65W|LGALS9_uc002gzr.2_Intron|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Missense_Mutation_p.R65W	p.R65W	NM_009587	NP_033665	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	311	+	Lung NSC(42;0.0103)		65			Galectin 1.	Beta-galactoside 1.	A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.193C>T	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314966	0.40996	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000448970	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	3.94	3.94	0.45596	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.215101	0.40728	N	0.001033	T	0.62514	0.2434	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78165	-0.2310	10	0.87932	D	0	.	13.9103	0.63862	0.0:1.0:0.0:0.0	.	65;65;65	F8W9W4;Q3B8N1;O00182	.;.;LEG9_HUMAN	W	65	ENSP00000378856:R65W;ENSP00000306228:R65W;ENSP00000312259:R65W;ENSP00000318214:R65W	ENSP00000306228:R65W	R	+	1	2	LGALS9	22991786	0.992000	0.36948	0.981000	0.43875	0.931000	0.56810	3.304000	0.51866	2.225000	0.72522	0.586000	0.80456	CGG		0.537	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1		NM_009587		48	69	0	0	0	0.139131	0	48	69		
SUPT6H	6830	broad.mit.edu	37	17	27000441	27000441	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:27000441G>A	ENST00000314616.6	+	2	305	c.22G>A	c.(22-24)Gag>Aag	p.E8K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E8K|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	8	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGTGGAAAGCGAGGCTGAGGA	0.468																																						uc002hby.2		NaN																	0				ovary(2)|skin(1)	3						c.(22-24)GAG>AAG		suppressor of Ty 6 homolog							82.0	77.0	79.0					17																	27000441		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27000441G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.22G>A	17.37:g.27000441G>A	ENSP00000319104:p.Glu8Lys					SUPT6H_uc010crt.2_Missense_Mutation_p.E8K	p.E8K	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			2	112	+	Lung NSC(42;0.00431)		8			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.22G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279073	0.59758	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	N	0.19112	0.55	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.65010	-0.6272	9	0.51188	T	0.08	-25.3078	20.3409	0.98764	0.0:0.0:1.0:0.0	.	8	Q7KZ85	SPT6H_HUMAN	K	8	.	ENSP00000319104:E8K	E	+	1	0	SUPT6H	24024568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.354000	0.97083	2.814000	0.96858	0.655000	0.94253	GAG		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		9	36	0	0	0	0.09319	0	9	36		
MYO18A	399687	broad.mit.edu	37	17	27447636	27447636	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:27447636G>C	ENST00000527372.1	-	7	1906	c.1726C>G	c.(1726-1728)Cag>Gag	p.Q576E	MYO18A_ENST00000533112.1_Missense_Mutation_p.Q576E|MYO18A_ENST00000354329.4_Missense_Mutation_p.Q576E|MYO18A_ENST00000531253.1_Missense_Mutation_p.Q576E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	576	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACTCTCACCTGAATGGAGGCT	0.562																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NaN																	0					0						c.(1726-1728)CAG>GAG		myosin 18A isoform a							39.0	44.0	43.0					17																	27447636		2029	4184	6213	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27447636G>C	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1726C>G	17.37:g.27447636G>C	ENSP00000437073:p.Gln576Glu					MYO18A_uc010wbc.1_Missense_Mutation_p.Q118E|MYO18A_uc002hds.2_Missense_Mutation_p.Q118E|MYO18A_uc010csa.1_Missense_Mutation_p.Q576E|MYO18A_uc002hdu.1_Missense_Mutation_p.Q576E|MYO18A_uc010wbd.1_Missense_Mutation_p.Q245E	p.Q576E	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		7	1884	-			576			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1726C>G	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928534	0.92389	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.73	5.73	0.89815	Myosin head, motor domain (2);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.103804	0.64402	D	0.000002	D	0.88518	0.6458	L	0.28400	0.85	0.58432	D	0.999997	D;P;P;P;P	0.76494	0.999;0.739;0.571;0.571;0.819	D;B;B;B;P	0.64506	0.926;0.266;0.173;0.173;0.489	D	0.83827	0.0250	10	0.11794	T	0.64	.	19.5237	0.95195	0.0:0.0:1.0:0.0	.	245;188;576;576;576	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	E	576;576;576;576;576;188	ENSP00000346291:Q576E;ENSP00000435932:Q576E;ENSP00000434228:Q576E;ENSP00000437073:Q576E	ENSP00000346291:Q576E	Q	-	1	0	MYO18A	24471762	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.430000	0.97488	2.721000	0.93114	0.655000	0.94253	CAG		0.562	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471		16	26	0	0	0	0.132662	0	16	26		
EFCAB5	374786	broad.mit.edu	37	17	28405274	28405274	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:28405274G>A	ENST00000394835.3	+	15	2971	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E803K|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	927							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTGGTCACGAAGTGAGATT	0.413																																						uc002het.2		NaN																	0				ovary(1)|skin(1)	2						c.(2779-2781)GAA>AAA		EF-hand calcium binding domain 5 isoform a							71.0	68.0	69.0					17																	28405274		1876	4102	5978	SO:0001583	missense	374786						calcium ion binding	g.chr17:28405274G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2779G>A	17.37:g.28405274G>A	ENSP00000378312:p.Glu927Lys					EFCAB5_uc010cse.2_Missense_Mutation_p.E682K|EFCAB5_uc010csf.2_Intron	p.E927K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			15	2971	+			927					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2779G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930391	0.73327	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.10960	2.82;2.85;2.84	5.32	5.32	0.75619	EF-hand-like domain (1);	0.121249	0.36740	N	0.002439	T	0.31575	0.0801	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.925	D;B	0.77004	0.989;0.199	T	0.00802	-1.1560	10	0.46703	T	0.11	-17.7639	16.1577	0.81677	0.0:0.0:1.0:0.0	.	803;927	E7EVS9;A4FU69	.;EFCB5_HUMAN	K	927;803;609	ENSP00000378312:E927K;ENSP00000322003:E803K;ENSP00000417009:E609K	ENSP00000322003:E803K	E	+	1	0	EFCAB5	25429400	1.000000	0.71417	0.942000	0.38095	0.561000	0.35649	3.645000	0.54389	2.494000	0.84150	0.655000	0.94253	GAA		0.413	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		25	71	0	0	0	0.083992	0	25	71		
SPACA3	124912	broad.mit.edu	37	17	31324480	31324480	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:31324480C>T	ENST00000269053.3	+	4	590	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	SPACA3_ENST00000580599.1_Missense_Mutation_p.L105F|SPACA3_ENST00000394638.1_Missense_Mutation_p.L71F|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	174					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GAATCCTAATCTCAAGGATAC	0.498																																						uc002hhs.1		NaN																	0				ovary(2)	2						c.(520-522)CTC>TTC		sperm acrosome associated 3							232.0	220.0	224.0					17																	31324480		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31324480C>T	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.520C>T	17.37:g.31324480C>T	ENSP00000269053:p.Leu174Phe					SPACA3_uc010cte.1_RNA	p.L174F	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		4	595	+			174			Extracellular (Potential).		Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.520C>T	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645186	0.47258	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.73258	-0.73;-0.73	3.87	2.85	0.33270	Lysozyme-like domain (1);Glycoside hydrolase, family 22, conserved site (1);	0.422175	0.18467	N	0.140360	D	0.84247	0.5430	M	0.90542	3.125	0.26649	N	0.972139	D	0.89917	1.0	D	0.91635	0.999	T	0.73920	-0.3830	10	0.87932	D	0	-3.4417	8.5237	0.33291	0.2306:0.7694:0.0:0.0	.	174	Q8IXA5	SACA3_HUMAN	F	174;71;175;82	ENSP00000269053:L174F;ENSP00000378134:L71F	ENSP00000269053:L174F	L	+	1	0	SPACA3	28348593	0.974000	0.33945	0.248000	0.24265	0.107000	0.19398	1.421000	0.34815	1.980000	0.57719	0.379000	0.24179	CTC		0.498	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1		NM_173847		55	101	0	0	0	0.139131	0	55	101		
SPACA3	124912	broad.mit.edu	37	17	31324482	31324482	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:31324482C>T	ENST00000269053.3	+	4	592	c.522C>T	c.(520-522)ctC>ctT	p.L174L	SPACA3_ENST00000580599.1_Silent_p.L105L|SPACA3_ENST00000394638.1_Silent_p.L71L|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	174					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ATCCTAATCTCAAGGATACCG	0.493																																						uc002hhs.1		NaN																	0				ovary(2)	2						c.(520-522)CTC>CTT		sperm acrosome associated 3							233.0	220.0	224.0					17																	31324482		2203	4300	6503	SO:0001819	synonymous_variant	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31324482C>T	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.522C>T	17.37:g.31324482C>T						SPACA3_uc010cte.1_RNA	p.L174L	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		4	597	+			174			Extracellular (Potential).		Q7Z4Y5	Silent	SNP	ENST00000269053.3	37	c.522C>T	CCDS11275.1																																																																																				0.493	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1		NM_173847		56	102	0	0	0	0.139131	0	56	102		
MYO19	80179	broad.mit.edu	37	17	34869487	34869487	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:34869487C>T	ENST00000431794.3	-	10	1324	c.802G>A	c.(802-804)Gag>Aag	p.E268K	MYO19_ENST00000586007.1_Missense_Mutation_p.E268K|MYO19_ENST00000268852.9_Missense_Mutation_p.E268K|MYO19_ENST00000544606.1_Missense_Mutation_p.E134K	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	268	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGCTCCTCTCTGGGTTGGGC	0.602																																						uc010wcy.1		NaN																	0				ovary(1)	1						c.(802-804)GAG>AAG		myosin XIX isoform 2							65.0	73.0	70.0					17																	34869487		2120	4248	6368	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34869487C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.802G>A	17.37:g.34869487C>T	ENSP00000409936:p.Glu268Lys					MYO19_uc002hmw.2_Missense_Mutation_p.E268K|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Missense_Mutation_p.E134K|MYO19_uc002hmx.2_Missense_Mutation_p.E268K	p.E268K	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	11	1794	-		Breast(25;0.00957)|Ovarian(249;0.17)	268			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.802G>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633344	0.87660	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.87334	-2.24;-2.24;-2.24	5.55	3.44	0.39384	Myosin head, motor domain (2);	0.198884	0.24520	N	0.037817	D	0.86781	0.6015	L	0.33753	1.03	0.39741	D	0.971743	B;P;B;D	0.71674	0.057;0.947;0.026;0.998	B;P;B;D	0.65987	0.158;0.825;0.067;0.94	D	0.85061	0.0934	10	0.40728	T	0.16	.	7.3548	0.26713	0.1668:0.7468:0.0:0.0864	.	134;268;268;268	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	K	268;268;134	ENSP00000409936:E268K;ENSP00000268852:E268K;ENSP00000438365:E134K	ENSP00000268852:E268K	E	-	1	0	MYO19	31943600	0.994000	0.37717	0.886000	0.34754	0.941000	0.58515	2.553000	0.45837	1.347000	0.45714	0.655000	0.94253	GAG		0.602	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1		NM_025109		8	34	0	0	0	0.038147	0	8	34		
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		7	Substitution - Missense(7)	p.S310F(2)|p.S310Y(1)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(928-930)TCC>TTC		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868208C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	8	1167	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	310			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.929C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				101	153	0	0	0	0.139131	0	101	153		
WNK4	65266	broad.mit.edu	37	17	40939370	40939370	+	Silent	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:40939370C>A	ENST00000246914.5	+	7	1572	c.1551C>A	c.(1549-1551)atC>atA	p.I517I	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	517					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGCTGCCATCCAGCGAAAGC	0.617																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NaN																	0				ovary(3)|skin(3)|stomach(1)	7						c.(1549-1551)ATC>ATA		WNK lysine deficient protein kinase 4							96.0	89.0	91.0					17																	40939370		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939370C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1551C>A	17.37:g.40939370C>A						WNK4_uc010wgx.1_Silent_p.I181I|WNK4_uc002ibk.1_Silent_p.I289I|WNK4_uc010wgy.1_5'UTR	p.I517I	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1572	+		Breast(137;0.000143)	517					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.1551C>A	CCDS11439.1																																																																																				0.617	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1				32	34	1	0	6.04164e-23	0.045705	6.57189e-23	32	34		
DDX42	11325	broad.mit.edu	37	17	61869830	61869830	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:61869830G>A	ENST00000578681.1	+	4	881	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	DDX42_ENST00000583590.1_Missense_Mutation_p.E94K|DDX42_ENST00000359353.5_5'UTR|DDX42_ENST00000457800.2_Missense_Mutation_p.E94K|DDX42_ENST00000389924.2_Missense_Mutation_p.E94K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	94					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATTCCTGCTGAAAACTCACC	0.418																																						uc002jbu.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)	5						c.(280-282)GAA>AAA		DEAD box polypeptide 42 protein							117.0	110.0	113.0					17																	61869830		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61869830G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.280G>A	17.37:g.61869830G>A	ENSP00000464050:p.Glu94Lys					DDX42_uc002jbv.2_Missense_Mutation_p.E94K|DDX42_uc002jbw.1_5'UTR	p.E94K	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			4	537	+			94					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.280G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722498	0.68959	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.19806	2.12;2.12	5.34	5.34	0.76211	.	0.469368	0.23312	N	0.049548	T	0.21801	0.0525	L	0.47716	1.5	0.80722	D	1	P	0.52842	0.956	B	0.40940	0.344	T	0.01858	-1.1259	10	0.27785	T	0.31	-22.6379	18.2051	0.89852	0.0:0.0:1.0:0.0	.	94	Q86XP3	DDX42_HUMAN	K	94	ENSP00000374574:E94K;ENSP00000390121:E94K	ENSP00000374574:E94K	E	+	1	0	DDX42	59223562	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.619000	0.98369	2.779000	0.95612	0.591000	0.81541	GAA		0.418	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1		NM_007372		48	68	0	0	0	0.139131	0	48	68		
ABCA9	10350	broad.mit.edu	37	17	66979930	66979930	+	Missense_Mutation	SNP	C	C	T	rs367930267		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:66979930C>T	ENST00000340001.4	-	36	4771	c.4560G>A	c.(4558-4560)atG>atA	p.M1520I	ABCA9_ENST00000453985.2_Missense_Mutation_p.M1482I|ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1520	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTTCAGCTTCATCTCCAGCA	0.468																																						uc002jhu.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4558-4560)ATG>ATA		ATP-binding cassette, sub-family A, member 9		C	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	119.0	105.0	110.0		4560	3.8	1.0	17		110	0,8600		0,0,4300	no	missense	ABCA9	NM_080283.3	10	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1520/1625	66979930	1,13005	2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66979930C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4560G>A	17.37:g.66979930C>T	ENSP00000342216:p.Met1520Ile					ABCA9_uc010dez.2_Missense_Mutation_p.M1482I	p.M1520I	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			36	4703	-	Breast(10;1.47e-12)		1520			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4560G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	1.671	-0.508896	0.04231	2.27E-4	0.0	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.88741	-2.42	4.77	3.78	0.43462	ABC transporter-like (1);	0.112301	0.38548	N	0.001649	T	0.71829	0.3386	N	0.11845	0.185	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.63839	-0.6546	10	0.05833	T	0.94	.	5.5017	0.16833	0.1437:0.6331:0.14:0.0832	.	1520	Q8IUA7	ABCA9_HUMAN	I	1520;1465	ENSP00000342216:M1520I	ENSP00000342216:M1520I	M	-	3	0	ABCA9	64491525	0.159000	0.22864	0.998000	0.56505	0.809000	0.45718	-0.535000	0.06142	2.366000	0.80165	0.655000	0.94253	ATG		0.468	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386		21	78	0	0	0	0.055883	0	21	78		
FBF1	85302	broad.mit.edu	37	17	73924184	73924184	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:73924184C>T	ENST00000586717.1	-	7	601	c.328G>A	c.(328-330)Gag>Aag	p.E110K	FBF1_ENST00000389570.4_Missense_Mutation_p.E110K|FBF1_ENST00000319129.5_Missense_Mutation_p.E110K			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	110					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TTGGGCAGCTCTCCTTTCCCA	0.537																																						uc002jqc.2		NaN																	0					0						c.(328-330)GAG>AAG		Fas (TNFRSF6) binding factor 1							65.0	68.0	67.0					17																	73924184		1932	4121	6053	SO:0001583	missense	85302							g.chr17:73924184C>T	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.328G>A	17.37:g.73924184C>T	ENSP00000465132:p.Glu110Lys					FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E100K|FBF1_uc002jqd.1_Missense_Mutation_p.E110K	p.E110K	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN			7	602	-			110					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.328G>A		.	.	.	.	.	.	.	.	.	.	C	19.79	3.893705	0.72639	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.19105	2.17;2.17	4.85	4.85	0.62838	.	.	.	.	.	T	0.33147	0.0853	M	0.67953	2.075	0.26020	N	0.981873	P;P;P	0.50272	0.933;0.804;0.933	P;B;P	0.51582	0.542;0.382;0.674	T	0.12708	-1.0537	9	0.40728	T	0.16	-10.1962	10.7126	0.45993	0.1904:0.8096:0.0:0.0	.	124;110;110	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	K	110;110;110;123	ENSP00000374221:E110K;ENSP00000324292:E110K	ENSP00000324292:E110K	E	-	1	0	FBF1	71435779	0.261000	0.24063	0.961000	0.40146	0.842000	0.47809	2.083000	0.41615	2.237000	0.73441	0.655000	0.94253	GAG		0.537	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2		NM_001080542		5	38	0	0	0	0.014758	0	5	38		
TMC8	147138	broad.mit.edu	37	17	76134203	76134203	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:76134203C>G	ENST00000318430.5	+	12	1841	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	TMC8_ENST00000589691.1_Silent_p.L266L	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	489					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GGATGGGCCTCTTCTACTGCC	0.612																																						uc002jup.2		NaN																	0					0						c.(1465-1467)CTC>CTG		transmembrane channel-like 8							91.0	92.0	91.0					17																	76134203		2203	4300	6503	SO:0001819	synonymous_variant	147138	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76134203C>G	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1467C>G	17.37:g.76134203C>G						TMC8_uc002juq.2_Silent_p.L266L|TMC8_uc010wtr.1_Missense_Mutation_p.L195V|TMC8_uc002jur.1_5'UTR	p.L489L	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		12	1849	+			489			Helical; (Potential).		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.1467C>G	CCDS32749.1																																																																																				0.612	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3				34	61	0	0	0	0.054565	0	34	61		
SYNGR2	9144	broad.mit.edu	37	17	76167089	76167089	+	Silent	SNP	C	C	T	rs370592724		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:76167089C>T	ENST00000225777.3	+	2	350	c.291C>T	c.(289-291)aaC>aaT	p.N97N	SYNGR2_ENST00000590201.1_Silent_p.N41N|SYNGR2_ENST00000588282.1_Silent_p.N97N|SYNGR2_ENST00000585591.1_Silent_p.N97N|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000589711.1_Intron			O43760	SNG2_HUMAN	synaptogyrin 2	97	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			AGATCAGCAACGCCACTGACC	0.582																																						uc002juu.1		NaN																	0					0						c.(289-291)AAC>AAT		synaptogyrin 2		C		1,4405		0,1,2202	106.0	86.0	93.0		291	-7.5	0.5	17		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYNGR2	NM_004710.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		97/225	76167089	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9144					integral to plasma membrane		g.chr17:76167089C>T	AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"""cellugyrin"""	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.291C>T	17.37:g.76167089C>T						SYNGR2_uc002jut.2_Silent_p.N97N|SYNGR2_uc002juv.1_Silent_p.N97N|SYNGR2_uc010dhi.1_Intron	p.N97N	NM_004710	NP_004701	O43760	SNG2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)		2	318	+			97			MARVEL.		O43762|Q3KQZ2|Q658S7	Silent	SNP	ENST00000225777.3	37	c.291C>T	CCDS11753.1																																																																																				0.582	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437009.2				17	65	0	0	0	0.146539	0	17	65		
DNAH17	8632	broad.mit.edu	37	17	76445638	76445638	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:76445638A>T	ENST00000585328.1	-	69	11178	c.11054T>A	c.(11053-11055)aTc>aAc	p.I3685N	DNAH17_ENST00000389840.5_Missense_Mutation_p.I3676N|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3676					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCCTCTGGATGGCTTTCTC	0.617																																						uc010dhp.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(2068-2070)ATC>AAC		SubName: Full=DNAH17 variant protein; Flags: Fragment;							84.0	65.0	72.0					17																	76445638		2202	4298	6500	SO:0001583	missense	8632							g.chr17:76445638A>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11054T>A	17.37:g.76445638A>T	ENSP00000465516:p.Ile3685Asn					DNAH17_uc002jvq.2_5'UTR|DNAH17_uc002jvs.2_RNA	p.I690N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		14	2291	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.2069T>A		.	.	.	.	.	.	.	.	.	.	A	17.06	3.293189	0.60086	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.60797	0.16	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000019	T	0.71400	0.3335	H	0.98446	4.235	0.58432	D	0.999991	P	0.39404	0.672	B	0.32677	0.15	T	0.82220	-0.0565	10	0.87932	D	0	.	14.456	0.67416	1.0:0.0:0.0:0.0	.	3685	E7EUM8	.	N	3685;3676	ENSP00000374490:I3676N	ENSP00000300671:I3685N	I	-	2	0	DNAH17	73957233	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	9.099000	0.94207	1.821000	0.53095	0.459000	0.35465	ATC		0.617	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		4	11	0	0	0	0.009096	0	4	11		
BAHCC1	57597	broad.mit.edu	37	17	79414364	79414364	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:79414364G>A	ENST00000307745.7	+	15	3466	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K																								GGGGCTACAAGAACTGCAATG	0.697																																						uc002kaf.2		NaN																	0				ovary(1)	1						c.(3466-3468)GAA>AAA		BAH domain and coiled-coil containing 1							6.0	8.0	7.0					17																	79414364		1823	3979	5802	SO:0001583	missense	57597						DNA binding	g.chr17:79414364G>A																												ENST00000307745.7:c.3466G>A	17.37:g.79414364G>A	ENSP00000303486:p.Glu1156Lys					BAHCC1_uc002kae.2_Missense_Mutation_p.E386K	p.E1156K	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		9	3466	+	all_neural(118;0.0804)|Melanoma(429;0.242)		1156						Missense_Mutation	SNP	ENST00000307745.7	37	c.3466G>A		.	.	.	.	.	.	.	.	.	.	G	22.8	4.336734	0.81801	.	.	ENSG00000171282	ENST00000307745	T	0.34472	1.36	4.1	4.1	0.47936	.	0.128338	0.30999	N	0.008456	T	0.29588	0.0738	L	0.32530	0.975	0.31711	N	0.639515	B;B	0.17038	0.016;0.02	B;B	0.17979	0.009;0.02	T	0.29119	-1.0022	10	0.39692	T	0.17	.	15.256	0.73585	0.0:0.0:1.0:0.0	.	1156;1156	Q9P281;F8WBW8	BAHC1_HUMAN;.	K	1156	ENSP00000303486:E1156K	ENSP00000303486:E1156K	E	+	1	0	AC110285.1	77028959	1.000000	0.71417	0.922000	0.36590	0.938000	0.57974	4.795000	0.62489	2.105000	0.64084	0.655000	0.94253	GAA		0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding					3	10	0	0	0	0.115264	0	3	10		
ADCYAP1	116	broad.mit.edu	37	18	907685	907685	+	Missense_Mutation	SNP	G	G	C	rs182986053		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:907685G>C	ENST00000579794.1	+	2	414	c.136G>C	c.(136-138)Gac>Cac	p.D46H	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.D46H|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.2_ENST00000577358.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	46					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GTACGGCGAGGACGGAAACCC	0.731																																						uc010dkg.2		NaN																	0					0						c.(136-138)GAC>CAC		adenylate cyclase activating polypeptide							9.0	11.0	10.0					18																	907685		2171	4249	6420	SO:0001583	missense	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:907685G>C	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.136G>C	18.37:g.907685G>C	ENSP00000462647:p.Asp46His					ADCYAP1_uc010dkh.2_Missense_Mutation_p.D46H	p.D46H	NM_001099733	NP_001093203	P18509	PACA_HUMAN			3	255	+			46					B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	c.136G>C	CCDS11825.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.1	3.940103	0.73557	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	4.81	4.81	0.61882	.	0.140370	0.64402	D	0.000006	T	0.74627	0.3741	M	0.77486	2.375	0.58432	D	0.999999	D	0.61697	0.99	P	0.54499	0.754	T	0.79415	-0.1813	9	0.72032	D	0.01	.	17.0258	0.86446	0.0:0.0:1.0:0.0	.	46	P18509	PACA_HUMAN	H	185;46;46	.	ENSP00000269200:D46H	D	+	1	0	ADCYAP1	897685	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	7.057000	0.76669	2.496000	0.84212	0.462000	0.41574	GAC		0.731	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3		NM_001117		2	5	0	0	0	0.115264	0	2	5		
SMCHD1	23347	broad.mit.edu	37	18	2732308	2732308	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:2732308C>G	ENST00000320876.6	+	25	3432	c.3094C>G	c.(3094-3096)Ccc>Gcc	p.P1032A	SMCHD1_ENST00000261598.8_Missense_Mutation_p.P1032A|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1032					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TAAGTTGCTTCCCAGTAGCCA	0.383																																						uc002klm.3		NaN																	0					0						c.(3094-3096)CCC>GCC		structural maintenance of chromosomes flexible							152.0	137.0	142.0					18																	2732308		1864	4110	5974	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2732308C>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3094C>G	18.37:g.2732308C>G	ENSP00000326603:p.Pro1032Ala					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.P1032A	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			25	3283	+			1032					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3094C>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662822	0.67700	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.61040	0.14;0.19	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	M	0.63843	1.955	0.45567	D	0.998518	D	0.76494	0.999	D	0.80764	0.994	T	0.77408	-0.2599	10	0.87932	D	0	-5.5769	18.8848	0.92372	0.0:1.0:0.0:0.0	.	1032	A6NHR9	SMHD1_HUMAN	A	1032	ENSP00000326603:P1032A;ENSP00000261598:P1032A	ENSP00000261598:P1032A	P	+	1	0	SMCHD1	2722308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.013000	0.70776	2.437000	0.82529	0.655000	0.94253	CCC		0.383	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2				35	95	0	0	0	0.064281	0	35	95		
SMCHD1	23347	broad.mit.edu	37	18	2732428	2732428	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:2732428C>G	ENST00000320876.6	+	25	3552	c.3214C>G	c.(3214-3216)Caa>Gaa	p.Q1072E	SMCHD1_ENST00000261598.8_Missense_Mutation_p.Q1072E|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1072					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTTATTTTTCAAATGTATGA	0.303																																						uc002klm.3		NaN																	0					0						c.(3214-3216)CAA>GAA		structural maintenance of chromosomes flexible							72.0	66.0	68.0					18																	2732428		1813	4078	5891	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2732428C>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3214C>G	18.37:g.2732428C>G	ENSP00000326603:p.Gln1072Glu					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.Q1072E	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			25	3403	+			1072					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3214C>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478699	0.44044	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23147	1.92;1.93	5.27	5.27	0.74061	.	0.132879	0.51477	D	0.000096	T	0.39655	0.1086	L	0.54323	1.7	0.32135	N	0.586223	D	0.54207	0.965	P	0.52758	0.708	T	0.41538	-0.9503	10	0.37606	T	0.19	-12.657	18.8848	0.92372	0.0:1.0:0.0:0.0	.	1072	A6NHR9	SMHD1_HUMAN	E	1072	ENSP00000326603:Q1072E;ENSP00000261598:Q1072E	ENSP00000261598:Q1072E	Q	+	1	0	SMCHD1	2722428	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.974000	0.56852	2.437000	0.82529	0.655000	0.94253	CAA		0.303	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2				13	36	0	0	0	0.11911	0	13	36		
VAPA	9218	broad.mit.edu	37	18	9914267	9914267	+	Missense_Mutation	SNP	C	C	T	rs562603622		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:9914267C>T	ENST00000400000.2	+	1	269	c.14C>T	c.(13-15)tCa>tTa	p.S5L	VAPA_ENST00000340541.4_Missense_Mutation_p.S5L|RP11-474N24.6_ENST00000609787.1_lincRNA	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	5					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						GCGTCCGCCTCAGGGGCCATG	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		9989	0.0		0.0	False		,,,				2504	0.001					uc002kok.2		NaN																	0					0						c.(13-15)TCA>TTA		vesicle-associated membrane protein-associated							17.0	18.0	18.0					18																	9914267		1909	4116	6025	SO:0001583	missense	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9914267C>T		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.14C>T	18.37:g.9914267C>T	ENSP00000382880:p.Ser5Leu					VAPA_uc002koj.2_Missense_Mutation_p.S5L	p.S5L	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN			1	313	+			5			Cytoplasmic (Potential).		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	ENST00000400000.2	37	c.14C>T	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700112	0.48307	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.62232	0.04;0.04	4.22	4.22	0.49857	.	0.506506	0.15885	U	0.239873	T	0.53948	0.1828	L	0.47716	1.5	0.27057	N	0.963657	B;B	0.16802	0.008;0.019	B;B	0.17722	0.003;0.019	T	0.43572	-0.9383	9	.	.	.	-11.1974	12.1537	0.54064	0.0:1.0:0.0:0.0	.	5;5	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	L	5	ENSP00000345656:S5L;ENSP00000382880:S5L	.	S	+	2	0	VAPA	9904267	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.136000	0.58004	1.910000	0.55303	0.298000	0.19748	TCA		0.716	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1				4	17	0	0	0	0.009096	0	4	17		
CTAGE1	64693	broad.mit.edu	37	18	19995722	19995722	+	5'Flank	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:19995722C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.G685R			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAGGAGGTCCTCTTCTTATG	0.507																																						uc002ktv.1		NaN																	0				ovary(1)	1						c.(2053-2055)GGA>AGA		cutaneous T-cell lymphoma-associated antigen 1							76.0	85.0	82.0					18																	19995722		2190	4276	6466	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995722C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995722C>T	Exception_encountered						p.G685R	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	2157	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		685			Pro-rich.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.2053G>A		.	.	.	.	.	.	.	.	.	.	C	10.96	1.498932	0.26861	.	.	ENSG00000212710	ENST00000391403	T	0.09630	2.96	0.614	0.614	0.17603	.	.	.	.	.	T	0.27313	0.0670	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04255	-1.0965	7	.	.	.	.	.	.	.	.	685	Q96RT6	CTGE2_HUMAN	R	685	ENSP00000375220:G685R	.	G	-	1	0	CTAGE1	18249720	1.000000	0.71417	0.046000	0.18839	0.013000	0.08279	2.108000	0.41854	0.581000	0.29539	0.298000	0.19748	GGA		0.507	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1		NM_022663, NM_172241		73	122	0	0	0	0.139131	0	73	122		
LAMA3	3909	broad.mit.edu	37	18	21399954	21399954	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:21399954C>G	ENST00000313654.9	+	19	2538	c.2297C>G	c.(2296-2298)tCa>tGa	p.S766*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.S766*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	766					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAAATGACCTCAGTACAGGTA	0.527																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2296-2298)TCA>TGA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						92.0	89.0	90.0					18																	21399954		1971	4150	6121	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21399954C>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2297C>G	18.37:g.21399954C>G	ENSP00000324532:p.Ser766*					LAMA3_uc002kur.2_Nonsense_Mutation_p.S766*	p.S766*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			19	2383	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		766					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.2297C>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	42	9.351721	0.99145	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	.	.	.	5.71	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.8758	0.79159	0.1367:0.8633:0.0:0.0	.	.	.	.	X	766;766;764	.	ENSP00000324532:S766X	S	+	2	0	LAMA3	19653952	0.252000	0.23972	0.002000	0.10522	0.840000	0.47671	4.612000	0.61169	1.373000	0.46208	0.555000	0.69702	TCA		0.527	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		9	67	0	0	0	0.047766	0	9	67		
MOCOS	55034	broad.mit.edu	37	18	33800081	33800081	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:33800081C>T	ENST00000261326.5	+	9	1882	c.1861C>T	c.(1861-1863)Cac>Tac	p.H621Y		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGTTGTGAATCACAATGGTGT	0.537																																						uc002kzq.3		NaN																	0				skin(1)	1						c.(1861-1863)CAC>TAC		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						150.0	132.0	138.0					18																	33800081		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33800081C>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1861C>T	18.37:g.33800081C>T	ENSP00000261326:p.His621Tyr						p.H621Y	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			9	1884	+			621						Missense_Mutation	SNP	ENST00000261326.5	37	c.1861C>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485847	0.63962	.	.	ENSG00000075643	ENST00000261326	T	0.29142	1.58	5.92	5.92	0.95590	MOSC, N-terminal beta barrel (1);Pyruvate kinase-like, insert domain (1);	0.406008	0.30401	N	0.009716	T	0.35098	0.0920	L	0.33668	1.02	0.24015	N	0.99617	D	0.54601	0.967	P	0.52066	0.689	T	0.24512	-1.0158	10	0.62326	D	0.03	-21.1852	13.4067	0.60917	0.0:0.8426:0.1574:0.0	.	621	Q96EN8	MOCOS_HUMAN	Y	621	ENSP00000261326:H621Y	ENSP00000261326:H621Y	H	+	1	0	MOCOS	32054079	0.999000	0.42202	0.997000	0.53966	0.972000	0.66771	2.141000	0.42168	2.804000	0.96469	0.655000	0.94253	CAC		0.537	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1				23	30	0	0	0	0.076483	0	23	30		
ZNF236	7776	broad.mit.edu	37	18	74607060	74607060	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:74607060C>G	ENST00000253159.8	+	10	1701	c.1503C>G	c.(1501-1503)atC>atG	p.I501M	ZNF236_ENST00000320610.9_Missense_Mutation_p.I503M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	501					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCGCCACATCCGCATCCACA	0.647																																						uc002lmi.2		NaN																	0				ovary(4)	4						c.(1501-1503)ATC>ATG		zinc finger protein 236							71.0	86.0	81.0					18																	74607060		2196	4297	6493	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74607060C>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1503C>G	18.37:g.74607060C>G	ENSP00000253159:p.Ile501Met					ZNF236_uc002lmj.2_RNA	p.I501M	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	10	1701	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	501			C2H2-type 10.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1503C>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505036	0.64410	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.18174	2.23;2.23	5.48	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061993	0.64402	D	0.000006	T	0.14013	0.0339	N	0.03115	-0.41	0.41458	D	0.98802	D	0.69078	0.997	D	0.68621	0.959	T	0.20840	-1.0263	10	0.23891	T	0.37	.	6.6024	0.22707	0.0:0.6318:0.0:0.3682	.	501	Q9UL36	ZN236_HUMAN	M	501	ENSP00000253159:I501M;ENSP00000444524:I501M	ENSP00000253159:I501M	I	+	3	3	ZNF236	72736048	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.814000	0.27239	1.296000	0.44742	0.563000	0.77884	ATC		0.647	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1				42	55	0	0	0	0.11126	0	42	55		
DAZAP1	26528	broad.mit.edu	37	19	1434835	1434835	+	Missense_Mutation	SNP	G	G	C	rs34263898		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:1434835G>C	ENST00000233078.4	+	12	1309	c.1148G>C	c.(1147-1149)gGc>gCc	p.G383A	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	383	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTcggggggcccccccgcc	0.706																																						uc002lsn.2		NaN																	0				breast(1)	1						c.(1147-1149)GGC>GCC		DAZ associated protein 1 isoform b							12.0	15.0	14.0					19																	1434835		2194	4294	6488	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1434835G>C		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1148G>C	19.37:g.1434835G>C	ENSP00000233078:p.Gly383Ala					DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Missense_Mutation_p.G382A|DAZAP1_uc002lsl.1_Missense_Mutation_p.G382A	p.G383A	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1337	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	383			Pro-rich.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.1148G>C	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245920	0.39697	.	.	ENSG00000071626	ENST00000233078	T	0.35605	1.3	5.26	5.26	0.73747	.	0.101931	0.64402	D	0.000003	T	0.25827	0.0629	N	0.14661	0.345	0.80722	D	1	B;B;B	0.13594	0.005;0.005;0.008	B;B;B	0.12156	0.003;0.003;0.007	T	0.03503	-1.1030	10	0.34782	T	0.22	.	17.8389	0.88709	0.0:0.0:1.0:0.0	.	450;383;149	Q5IRN4;Q96EP5;B3KS63	.;DAZP1_HUMAN;.	A	383	ENSP00000233078:G383A	ENSP00000233078:G383A	G	+	2	0	DAZAP1	1385835	1.000000	0.71417	0.979000	0.43373	0.837000	0.47467	7.050000	0.76620	2.454000	0.82982	0.561000	0.74099	GGC		0.706	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3		NM_170711		6	8	0	0	0	0.11911	0	6	8		
ZFR2	23217	broad.mit.edu	37	19	3819086	3819086	+	Missense_Mutation	SNP	C	C	T	rs575924514		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:3819086C>T	ENST00000262961.4	-	12	1898	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	630	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGGTCCTCCTCGGCCAGTGTG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		14190	0.001		0.0	False		,,,				2504	0.0					uc002lyw.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(1888-1890)GAG>AAG		zinc finger RNA binding protein 2 isoform 1							24.0	30.0	28.0					19																	3819086		1969	4138	6107	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3819086C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1888G>A	19.37:g.3819086C>T	ENSP00000262961:p.Glu630Lys						p.E630K	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	12	1900	-			630						Missense_Mutation	SNP	ENST00000262961.4	37	c.1888G>A	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539655	0.65085	.	.	ENSG00000105278	ENST00000262961	T	0.08720	3.06	3.68	-4.18	0.03846	.	0.259107	0.29348	U	0.012406	T	0.15132	0.0365	M	0.75264	2.295	0.80722	D	1	D	0.65815	0.995	P	0.53490	0.727	T	0.02320	-1.1177	10	0.48119	T	0.1	-13.9064	10.5009	0.44804	0.0:0.3185:0.5922:0.0893	.	630	Q9UPR6	ZFR2_HUMAN	K	630	ENSP00000262961:E630K	ENSP00000262961:E630K	E	-	1	0	ZFR2	3770086	0.355000	0.24921	0.004000	0.12327	0.009000	0.06853	0.945000	0.29056	-0.680000	0.05211	-1.157000	0.01802	GAG		0.687	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2		NM_015174		5	21	0	0	0	0.02938	0	5	21		
ZBTB7A	51341	broad.mit.edu	37	19	4048230	4048230	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:4048230C>T	ENST00000322357.4	-	3	1553	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	ZBTB7A_ENST00000601588.1_Silent_p.L425L	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	425					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCACCTTCAGCTTGTCCT	0.697																																						uc002lzh.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1273-1275)CTG>CTA		zinc finger and BTB domain containing 7A							31.0	34.0	33.0					19																	4048230		2203	4300	6503	SO:0001819	synonymous_variant	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4048230C>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1275G>A	19.37:g.4048230C>T						ZBTB7A_uc002lzi.2_Silent_p.L425L	p.L425L	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1350	-		Hepatocellular(1079;0.137)	425			C2H2-type 2.		D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	c.1275G>A	CCDS12119.1																																																																																				0.697	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2		NM_015898		11	21	0	0	0	0.09319	0	11	21		
ZBTB7A	51341	broad.mit.edu	37	19	4054074	4054074	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:4054074A>T	ENST00000322357.4	-	2	1435	c.1157T>A	c.(1156-1158)aTc>aAc	p.I386N	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.I386N	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	386					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGCAGATGGGGCACTT	0.637																																						uc002lzh.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1156-1158)ATC>AAC		zinc finger and BTB domain containing 7A							72.0	70.0	71.0					19																	4054074		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054074A>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1157T>A	19.37:g.4054074A>T	ENSP00000323670:p.Ile386Asn					ZBTB7A_uc002lzi.2_Missense_Mutation_p.I386N	p.I386N	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1232	-		Hepatocellular(1079;0.137)	386			C2H2-type 1.		D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1157T>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416750	0.42918	.	.	ENSG00000178951	ENST00000322357	T	0.12255	2.7	5.03	5.03	0.67393	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.59436	1.845	0.43745	D	0.99624	D	0.69078	0.997	D	0.63597	0.916	T	0.01386	-1.1368	10	0.33940	T	0.23	.	13.5772	0.61881	1.0:0.0:0.0:0.0	.	386	O95365	ZBT7A_HUMAN	N	386	ENSP00000323670:I386N	ENSP00000323670:I386N	I	-	2	0	ZBTB7A	4005074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.195000	0.77798	1.891000	0.54761	0.379000	0.24179	ATC		0.637	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2		NM_015898		29	43	0	0	0	0.045705	0	29	43		
CAMSAP3	57662	broad.mit.edu	37	19	7682676	7682676	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:7682676C>G	ENST00000160298.4	+	17	3584	c.3483C>G	c.(3481-3483)ctC>ctG	p.L1161L	CAMSAP3_ENST00000446248.2_Silent_p.L1188L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1161	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TCCTGATCCTCTTTCGCGACT	0.637																																						uc002mgv.3		NaN																	0				pancreas(1)	1						c.(3481-3483)CTC>CTG		NEZHA isoform 2							30.0	34.0	33.0					19																	7682676		1958	4144	6102	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682676C>G	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3483C>G	19.37:g.7682676C>G						KIAA1543_uc002mgu.3_Silent_p.L1188L|KIAA1543_uc002mgw.2_Silent_p.L291L	p.L1161L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			17	3584	+			1161			CKK.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.3483C>G	CCDS42489.1																																																																																				0.637	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362		19	40	0	0	0	0.043863	0	19	40		
MUC16	94025	broad.mit.edu	37	19	9015637	9015637	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:9015637C>G	ENST00000397910.4	-	29	38389	c.38186G>C	c.(38185-38187)aGa>aCa	p.R12729T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12731	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAGGACTCTCTCTGTGGT	0.532																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38185-38187)AGA>ACA		mucin 16							185.0	167.0	173.0					19																	9015637		2029	4166	6195	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015637C>G	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.38186G>C	19.37:g.9015637C>G	ENSP00000381008:p.Arg12729Thr					MUC16_uc010xki.1_5'Flank	p.R12729T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			29	38390	-			12731			SEA 5.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38186G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.038	0.561952	0.13498	.	.	ENSG00000181143	ENST00000397910	T	0.28666	1.6	3.34	-6.69	0.01772	.	.	.	.	.	T	0.29588	0.0738	M	0.84683	2.71	.	.	.	B	0.19331	0.035	B	0.17979	0.02	T	0.37337	-0.9710	8	0.87932	D	0	.	2.3261	0.04223	0.1068:0.4004:0.1837:0.3091	.	12729	B5ME49	.	T	12729	ENSP00000381008:R12729T	ENSP00000381008:R12729T	R	-	2	0	MUC16	8876637	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-7.448000	0.00036	-2.486000	0.00520	0.305000	0.20034	AGA		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		26	150	0	0	0	0.099896	0	26	150		
MUC16	94025	broad.mit.edu	37	19	9076183	9076183	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:9076183G>C	ENST00000397910.4	-	3	11466	c.11263C>G	c.(11263-11265)Cag>Gag	p.Q3755E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3756	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCCCCCTGAGGAGCTGAG	0.522																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11263-11265)CAG>GAG		mucin 16							114.0	115.0	115.0					19																	9076183		2038	4186	6224	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076183G>C	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.11263C>G	19.37:g.9076183G>C	ENSP00000381008:p.Gln3755Glu						p.Q3755E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11467	-			3756			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11263C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.517	0.867919	0.17250	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.76	1.76	0.24704	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.24368	0.102	B	0.29176	0.099	T	0.25467	-1.0131	8	0.87932	D	0	.	7.0042	0.24828	0.0:0.0:1.0:0.0	.	3755	B5ME49	.	E	3755	ENSP00000381008:Q3755E	ENSP00000381008:Q3755E	Q	-	1	0	MUC16	8937183	0.001000	0.12720	0.150000	0.22450	0.516000	0.34256	0.190000	0.17057	1.276000	0.44395	0.313000	0.20887	CAG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		30	138	0	0	0	0.144211	0	30	138		
TYK2	7297	broad.mit.edu	37	19	10488945	10488945	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:10488945G>A	ENST00000525621.1	-	3	619	c.138C>T	c.(136-138)ttC>ttT	p.F46F	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Silent_p.F46F|TYK2_ENST00000264818.6_Silent_p.F46F	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	46	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ATGACTCACTGAAAGTGACCC	0.622																																						uc002moc.3		NaN																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(136-138)TTC>TTT		tyrosine kinase 2							77.0	66.0	69.0					19																	10488945		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10488945G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.138C>T	19.37:g.10488945G>A						TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F46F	p.F46F	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		3	516	-			46			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.138C>T	CCDS12236.1																																																																																				0.622	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				29	45	0	0	0	0.134883	0	29	45		
ILF3	3609	broad.mit.edu	37	19	10793282	10793282	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:10793282G>A	ENST00000590261.1	+	12	1450	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	ILF3_ENST00000592763.1_Missense_Mutation_p.E484K|ILF3_ENST00000449870.1_Missense_Mutation_p.E484K|ILF3_ENST00000407004.3_Missense_Mutation_p.E484K|ILF3_ENST00000588657.1_Missense_Mutation_p.E484K|ILF3_ENST00000250241.8_Missense_Mutation_p.E484K|ILF3_ENST00000318511.3_Missense_Mutation_p.E484K|ILF3_ENST00000589998.1_Missense_Mutation_p.E484K|ILF3_ENST00000420083.1_Missense_Mutation_p.E484K			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	484					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGACTCGGCTGAGGAGACCGA	0.647																																						uc002mpn.2		NaN																	0				ovary(3)	3						c.(1450-1452)GAG>AAG		interleukin enhancer binding factor 3 isoform a							53.0	47.0	49.0					19																	10793282		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10793282G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1450G>A	19.37:g.10793282G>A	ENSP00000468156:p.Glu484Lys					ILF3_uc002mpm.2_Missense_Mutation_p.E484K|ILF3_uc002mpl.2_Missense_Mutation_p.E484K|ILF3_uc002mpk.2_Missense_Mutation_p.E484K|ILF3_uc010xli.1_Missense_Mutation_p.E82K|ILF3_uc002mpo.2_Missense_Mutation_p.E484K|ILF3_uc002mpp.2_Missense_Mutation_p.E305K	p.E484K	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		13	1767	+			484					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1450G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447732	0.43429	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15487	2.42;2.43;2.46;2.43;2.46	5.23	5.23	0.72850	.	0.326895	0.29438	N	0.012154	T	0.10551	0.0258	N	0.14661	0.345	0.36282	D	0.855847	P;B;B;B;B;B	0.42518	0.782;0.4;0.09;0.187;0.007;0.029	B;B;B;B;B;B	0.33620	0.154;0.167;0.032;0.051;0.004;0.023	T	0.17653	-1.0362	10	0.54805	T	0.06	.	16.0746	0.80960	0.0:0.0:1.0:0.0	.	484;484;484;484;484;484	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	K	484	ENSP00000404121:E484K;ENSP00000315205:E484K;ENSP00000405436:E484K;ENSP00000384660:E484K;ENSP00000250241:E484K	ENSP00000250241:E484K	E	+	1	0	ILF3	10654282	1.000000	0.71417	0.933000	0.37362	0.063000	0.16089	5.611000	0.67674	2.599000	0.87857	0.655000	0.94253	GAG		0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1				9	33	0	0	0	0.058154	0	9	33		
MAST1	22983	broad.mit.edu	37	19	12975882	12975882	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:12975882C>T	ENST00000251472.4	+	14	1567	c.1528C>T	c.(1528-1530)Cac>Tac	p.H510Y		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTCCATGGGTCACATCAAGCT	0.577																																						uc002mvm.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1528-1530)CAC>TAC		microtubule associated serine/threonine kinase							141.0	118.0	126.0					19																	12975882		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975882C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1528C>T	19.37:g.12975882C>T	ENSP00000251472:p.His510Tyr						p.H510Y	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			14	1656	+			510			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1528C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143106	0.77888	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.65549	-0.16	4.43	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	L	0.59912	1.85	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.78445	-0.2201	10	0.87932	D	0	-32.556	14.9052	0.70711	0.0:1.0:0.0:0.0	.	510	Q9Y2H9	MAST1_HUMAN	Y	510	ENSP00000251472:H510Y	ENSP00000251472:H510Y	H	+	1	0	MAST1	12836882	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.818000	0.86416	2.203000	0.70933	0.561000	0.74099	CAC		0.577	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2		NM_014975		9	82	0	0	0	0.069234	0	9	82		
CYP4F11	57834	broad.mit.edu	37	19	16038102	16038102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:16038102G>A	ENST00000402119.4	-	4	871	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	CYP4F11_ENST00000248041.8_Missense_Mutation_p.R149W|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R149W|CYP4F11_ENST00000591841.1_5'UTR	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.R149W(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTCAACATCCGACGGTGGCGG	0.537																																						uc002nbu.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(445-447)CGG>TGG		cytochrome P450 family 4 subfamily F polypeptide							91.0	89.0	90.0					19																	16038102		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16038102G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.445C>T	19.37:g.16038102G>A	ENSP00000384588:p.Arg149Trp					CYP4F11_uc010eab.1_Missense_Mutation_p.R149W|CYP4F11_uc002nbt.2_Missense_Mutation_p.R149W	p.R149W	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			5	481	-			149						Missense_Mutation	SNP	ENST00000402119.4	37	c.445C>T	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	g	8.784	0.929033	0.18131	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;T	0.81996	-1.56;-1.56;-0.65	2.57	1.45	0.22620	.	0.083689	0.47455	U	0.000226	D	0.86814	0.6023	M	0.91717	3.235	0.53005	D	0.999965	P;P	0.47962	0.882;0.903	P;P	0.47705	0.516;0.555	D	0.86120	0.1568	10	0.87932	D	0	.	8.5265	0.33309	0.0:0.0:0.7687:0.2313	.	149;149	F8W978;Q9HBI6	.;CP4FB_HUMAN	W	149	ENSP00000384588:R149W;ENSP00000248041:R149W;ENSP00000319859:R149W	ENSP00000248041:R149W	R	-	1	2	CYP4F11	15899102	0.489000	0.26004	0.898000	0.35279	0.046000	0.14306	2.054000	0.41335	0.374000	0.24650	0.298000	0.19748	CGG		0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2		NM_021187		10	131	0	0	0	0.058154	0	10	131		
ZNF714	148206	broad.mit.edu	37	19	21300143	21300143	+	Missense_Mutation	SNP	G	G	C	rs199888679		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:21300143G>C	ENST00000596143.1	+	5	998	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TCATACTGGAGAGAAACCCTA	0.408																																						uc002npo.3		NaN																	0					0						c.(676-678)GAG>CAG		zinc finger protein 714							46.0	48.0	47.0					19																	21300143		2186	4296	6482	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300143G>C	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.673G>C	19.37:g.21300143G>C	ENSP00000472368:p.Glu225Gln					ZNF714_uc002npl.2_Missense_Mutation_p.E71Q|ZNF714_uc010ecp.1_Missense_Mutation_p.E177Q|ZNF714_uc002npn.2_RNA	p.E226Q	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			6	1036	+			226					Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.676G>C	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	13.49	2.253586	0.39797	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.02	-0.868	0.10652	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59715	0.2214	M	0.71871	2.18	0.29783	N	0.833843	D;P;D	0.76494	0.999;0.741;0.996	D;B;P	0.66979	0.948;0.194;0.864	T	0.56438	-0.7979	8	0.72032	D	0.01	.	6.2871	0.21039	0.2:0.0:0.8:0.0	.	226;225;226	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	Q	225	.	ENSP00000291770:E225Q	E	+	1	0	ZNF714	21091983	0.981000	0.34729	0.075000	0.20258	0.068000	0.16541	2.163000	0.42377	-0.396000	0.07703	-0.390000	0.06520	GAG		0.408	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1		NM_182515		5	68	0	0	0	0.014758	0	5	68		
RBM42	79171	broad.mit.edu	37	19	36128214	36128214	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:36128214G>A	ENST00000262633.4	+	9	1395	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	RBM42_ENST00000589871.1_Silent_p.K408K|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000588161.1_Silent_p.K400K|RBM42_ENST00000586618.1_Silent_p.K134K|RBM42_ENST00000592202.1_Silent_p.K376K|RBM42_ENST00000360475.4_Silent_p.K401K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	430	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K430>?(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAGCTTCAAGGACCCCAGCG	0.647																																						uc002oan.2		NaN																	1	Complex(1)		large_intestine(1)		0						c.(1288-1290)AAG>AAA		RNA binding motif protein 42							108.0	83.0	91.0					19																	36128214		2203	4300	6503	SO:0001819	synonymous_variant	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36128214G>A	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1290G>A	19.37:g.36128214G>A						RBM42_uc010eef.2_Silent_p.K376K|RBM42_uc002oao.2_Silent_p.K408K|RBM42_uc002oap.2_Silent_p.K400K|RBM42_uc002oaq.2_Silent_p.K401K|RBM42_uc010eeg.2_Intron	p.K430K	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		9	1366	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		430			Necessary for interaction with HNRNPK (By similarity).|RRM.		O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	c.1290G>A	CCDS12468.1																																																																																				0.647	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2		NM_024321		91	112	0	0	0	0.139131	0	91	112		
ZNF569	148266	broad.mit.edu	37	19	37916855	37916855	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:37916855G>A	ENST00000316950.6	-	5	710	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ZNF569_ENST00000589833.1_Silent_p.F75F|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392149.2_Silent_p.F51F|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000392150.2_Intron	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGGTTTGGTGAACGGATAGC	0.443																																						uc002ogi.2		NaN																	0				breast(2)|skin(1)	3						c.(151-153)TTC>TTT		zinc finger protein 569							306.0	294.0	298.0					19																	37916855		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37916855G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.153C>T	19.37:g.37916855G>A						ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Silent_p.F75F	p.F51F	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	711	-			51			KRAB.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.153C>T	CCDS12503.1																																																																																				0.443	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2		NM_152484		58	774	0	0	0	0.139131	0	58	774		
MEGF8	1954	broad.mit.edu	37	19	42873014	42873014	+	Silent	SNP	G	G	A	rs145990797		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:42873014G>A	ENST00000251268.6	+	37	6501	c.6501G>A	c.(6499-6501)ccG>ccA	p.P2167P	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.P2100P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2167	PSI 7.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGGGCGTCCGGGGGCCTCCT	0.642																																						uc002otl.3		NaN																	0				ovary(1)	1						c.(6298-6300)CCG>CCA		multiple EGF-like-domains 8		G		0,4406		0,0,2203	76.0	86.0	83.0		6300	0.1	0.9	19	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MEGF8	NM_001410.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2100/2779	42873014	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42873014G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6501G>A	19.37:g.42873014G>A						MEGF8_uc002otm.3_Silent_p.P1708P|MEGF8_uc002otn.3_5'Flank	p.P2100P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			36	6935	+		Prostate(69;0.00682)	2167			Extracellular (Potential).|PSI 7.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.6300G>A																																																																																					0.642	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		68	31	0	0	0	0.139131	0	68	31		
PSG2	5670	broad.mit.edu	37	19	43585239	43585239	+	Missense_Mutation	SNP	A	A	T	rs142667584		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:43585239A>T	ENST00000406487.1	-	2	322	c.224T>A	c.(223-225)cTc>cAc	p.L75H	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	75	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAATGGTAGAGGTCCCTGAT	0.433																																						uc002ovi.2		NaN																	0				ovary(1)|skin(1)	2						c.(223-225)CTC>CAC		SubName: Full=Putative uncharacterized protein PSG6;		A	HIS/LEU	0,4406		0,0,2203	115.0	119.0	118.0		224	-1.1	0.0	19	dbSNP_134	118	1,8589		0,1,4294	no	missense	PSG2	NM_031246.3	99	0,1,6497	TT,TA,AA		0.0116,0.0,0.0077		75/336	43585239	1,12995	2203	4295	6498	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43585239A>T		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.224T>A	19.37:g.43585239A>T	ENSP00000385706:p.Leu75His					PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.L75H|PSG2_uc002ovq.3_Missense_Mutation_p.L75H|PSG2_uc010eiq.1_Missense_Mutation_p.L75H|PSG2_uc002ovs.3_Missense_Mutation_p.L75H|PSG2_uc002ovt.3_Missense_Mutation_p.L75H	p.L75H			Q00889	PSG6_HUMAN			2	317	-		Prostate(69;0.00899)	75			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.224T>A	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.697882	0.00725	0.0	1.16E-4	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.65364	-0.15	0.569	-1.14	0.09741	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50411	0.1614	L	0.57536	1.79	0.09310	N	1	B;B	0.33044	0.12;0.395	B;B	0.37387	0.076;0.248	T	0.41448	-0.9508	8	0.14656	T	0.56	.	.	.	.	.	75;75	B5MCM8;P11465	.;PSG2_HUMAN	H	75	ENSP00000385706:L75H	ENSP00000332984:L75H	L	-	2	0	PSG2	48277079	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-6.117000	0.00080	-1.295000	0.02357	0.155000	0.16302	CTC		0.433	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1		NM_031246		33	346	0	0	0	0.11126	0	33	346		
XRCC1	7515	broad.mit.edu	37	19	44057007	44057007	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:44057007C>G	ENST00000262887.5	-	8	1312	c.765G>C	c.(763-765)aaG>aaC	p.K255N	XRCC1_ENST00000543982.1_Missense_Mutation_p.K224N|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	255					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TGGGGGTCTTCTTTTCTTCTT	0.547								Other BER factors																														uc002owt.2		NaN																	0				ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(763-765)AAG>AAC	Other_BER_factors	X-ray repair cross complementing protein 1							165.0	164.0	164.0					19																	44057007		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44057007C>G	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.765G>C	19.37:g.44057007C>G	ENSP00000262887:p.Lys255Asn					XRCC1_uc010xwp.1_Missense_Mutation_p.K224N	p.K255N	NM_006297	NP_006288	P18887	XRCC1_HUMAN			8	885	-		Prostate(69;0.0153)	255					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.765G>C	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617357	0.28801	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.02837	4.14;4.14	4.85	3.82	0.43975	.	1.063830	0.07164	N	0.851259	T	0.03959	0.0111	L	0.47716	1.5	0.22728	N	0.998805	B;B	0.23735	0.002;0.09	B;B	0.16722	0.005;0.016	T	0.44544	-0.9321	10	0.23302	T	0.38	-8.1148	9.2656	0.37639	0.0:0.9014:0.0:0.0986	.	224;255	F5H8D7;P18887	.;XRCC1_HUMAN	N	269;255;224;255	ENSP00000262887:K255N;ENSP00000443671:K224N	ENSP00000262887:K255N	K	-	3	2	XRCC1	48748847	0.758000	0.28405	0.880000	0.34516	0.911000	0.54048	1.092000	0.30927	1.414000	0.47017	0.655000	0.94253	AAG		0.547	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1		NM_006297		3	43	0	0	0	0.115264	0	3	43		
NANOS2	339345	broad.mit.edu	37	19	46417599	46417599	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:46417599C>T	ENST00000341294.2	-	1	437	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	118					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CTGCTGGCCACCGTTAAGCGG	0.672																																						uc002pdu.2		NaN																	0					0						c.(352-354)GGT>GAT		nanos homolog 2							45.0	42.0	43.0					19																	46417599		2203	4300	6503	SO:0001583	missense	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417599C>T	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.353G>A	19.37:g.46417599C>T	ENSP00000341021:p.Gly118Asp						p.G118D	NM_001029861	NP_001025032	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	438	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	118					Q17R30|Q4G0P8	Missense_Mutation	SNP	ENST00000341294.2	37	c.353G>A	CCDS33056.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.739041	0.30774	.	.	ENSG00000188425	ENST00000341294	T	0.40756	1.02	4.75	3.7	0.42460	.	0.379167	0.21105	N	0.080085	T	0.19927	0.0479	N	0.05280	-0.08	0.09310	N	1	P	0.48162	0.906	B	0.44224	0.444	T	0.05835	-1.0861	10	0.12766	T	0.61	-0.1121	6.4225	0.21752	0.0:0.716:0.1872:0.0968	.	118	P60321	NANO2_HUMAN	D	118	ENSP00000341021:G118D	ENSP00000341021:G118D	G	-	2	0	NANOS2	51109439	0.001000	0.12720	0.181000	0.23098	0.967000	0.64934	0.740000	0.26188	1.214000	0.43395	0.484000	0.47621	GGT		0.672	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1				21	23	0	0	0	0.055883	0	21	23		
SAE1	10055	broad.mit.edu	37	19	47706939	47706939	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:47706939C>T	ENST00000270225.7	+	8	958	c.890C>T	c.(889-891)tCc>tTc	p.S297F	SAE1_ENST00000540850.1_Missense_Mutation_p.S123F|SAE1_ENST00000413379.3_Intron|SAE1_ENST00000598840.1_Missense_Mutation_p.S216F|SAE1_ENST00000392776.3_Missense_Mutation_p.P249S	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	297					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TACTGCTTCTCCGAGATGGCC	0.463																																						uc002pgc.2		NaN																	0				ovary(1)	1						c.(889-891)TCC>TTC		SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;							230.0	203.0	212.0					19																	47706939		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47706939C>T	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.890C>T	19.37:g.47706939C>T	ENSP00000270225:p.Ser297Phe					SAE1_uc002pgd.2_Missense_Mutation_p.P249S|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.S123F|SAE1_uc002pge.2_Missense_Mutation_p.S233F	p.S297F	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	8	946	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	297					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.890C>T	CCDS12696.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.122101|5.122101	0.94429|0.94429	.|.	.|.	ENSG00000142230|ENSG00000142230	ENST00000392776|ENST00000270225;ENST00000540850	T|T;T	0.73575|0.30981	-0.76|1.51;1.51	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56978|0.56978	0.2022|0.2022	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	B|D;P	0.13145|0.76494	0.007|0.999;0.606	B|D;B	0.16289|0.64410	0.015|0.925;0.057	T|T	0.57335|0.57335	-0.7829|-0.7829	9|10	0.22706|0.72032	T|D	0.39|0.01	.|.	19.1685|19.1685	0.93567|0.93567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	249|123;297	F5GXX7|B4DY66;Q9UBE0	.|.;SAE1_HUMAN	S|F	249|297;123	ENSP00000440818:P249S|ENSP00000270225:S297F;ENSP00000440955:S123F	ENSP00000440818:P249S|ENSP00000270225:S297F	P|S	+|+	1|2	0|0	SAE1|SAE1	52398779|52398779	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.985000|0.985000	0.73830|0.73830	6.364000|6.364000	0.73086|0.73086	2.830000|2.830000	0.97506|0.97506	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.463	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1		NM_005500		78	42	0	0	0	0.139131	0	78	42		
MEIS3	56917	broad.mit.edu	37	19	47910626	47910626	+	Silent	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:47910626G>T	ENST00000558555.1	-	9	1105	c.918C>A	c.(916-918)atC>atA	p.I306I	MEIS3_ENST00000559524.1_Silent_p.I352I|MEIS3_ENST00000561293.1_Silent_p.I352I|MEIS3_ENST00000561096.1_Silent_p.I394I|MEIS3_ENST00000331559.5_Silent_p.I335I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000441740.2_Silent_p.I289I			Q99687	MEIS3_HUMAN	Meis homeobox 3	306					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGACTTGCAGGATGGTGAGCC	0.716																																						uc002pgu.2		NaN																	0					0						c.(916-918)ATC>ATA		Meis1, myeloid ecotropic viral integration site							46.0	46.0	46.0					19																	47910626		2197	4289	6486	SO:0001819	synonymous_variant	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47910626G>T	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.918C>A	19.37:g.47910626G>T						MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Silent_p.I105I|MEIS3_uc002pgp.2_Silent_p.I138I|MEIS3_uc002pgq.2_Silent_p.I387I|MEIS3_uc002pgr.2_Silent_p.I174I|MEIS3_uc002pgt.2_Silent_p.I289I|MEIS3_uc002pgv.2_Silent_p.I335I|MEIS3_uc002pgs.2_Silent_p.I352I|MEIS3_uc010eld.2_Silent_p.I352I	p.I306I	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	9	1365	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	306			Homeobox; TALE-type.		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	ENST00000558555.1	37	c.918C>A																																																																																					0.716	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1		XM_085929		59	29	1	0	3.95532e-38	0.139131	4.38408e-38	59	29		
SCAF1	58506	broad.mit.edu	37	19	50154733	50154733	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:50154733C>T	ENST00000360565.3	+	7	1211	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	363					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGAGGCTTGTCGGGAAGGCAA	0.721																																						uc002poq.2		NaN																	0					0						c.(1087-1089)CGG>TGG		SR-related CTD-associated factor 1																																				SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154733C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1087C>T	19.37:g.50154733C>T	ENSP00000353769:p.Arg363Trp						p.R363W	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1211	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	363					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.1087C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	4.337	0.062050	0.08339	.	.	ENSG00000126461	ENST00000360565	T	0.34472	1.36	4.66	2.19	0.27852	.	0.441952	0.16160	N	0.226808	T	0.26231	0.0640	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	P	0.47744	0.556	T	0.11179	-1.0598	9	.	.	.	-3.3423	12.0156	0.53311	0.3237:0.6763:0.0:0.0	.	363	Q9H7N4	SFR19_HUMAN	W	363	ENSP00000353769:R363W	.	R	+	1	2	SCAF1	54846545	0.064000	0.20934	0.805000	0.32314	0.037000	0.13140	0.384000	0.20668	0.906000	0.36621	-0.500000	0.04577	CGG		0.721	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1		NM_021228		4	7	0	0	0	0.021553	0	4	7		
DNAAF3	352909	broad.mit.edu	37	19	55676784	55676784	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:55676784C>T	ENST00000524407.2	-	4	309	c.276G>A	c.(274-276)ctG>ctA	p.L92L	DNAAF3_ENST00000391720.4_Silent_p.L139L|DNAAF3_ENST00000527223.2_Silent_p.L160L|snoU13_ENST00000459370.1_RNA|DNAAF3_ENST00000455045.1_Silent_p.L38L|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	92					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GGCTGAAGATCAGCATGTGTC	0.547																																						uc002qji.1		NaN																	0					0						c.(274-276)CTG>CTA		RecName: Full=UPF0470 protein C19orf51;							67.0	72.0	70.0					19																	55676784		1948	4160	6108	SO:0001819	synonymous_variant	352909							g.chr19:55676784C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.276G>A	19.37:g.55676784C>T						C19orf51_uc002qjj.1_Silent_p.L139L|C19orf51_uc002qjk.1_Silent_p.L38L|C19orf51_uc002qjl.1_Silent_p.L160L	p.L92L			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	310	-			92					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	ENST00000524407.2	37	c.276G>A	CCDS59422.1																																																																																				0.547	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5		NM_178837		43	21	0	0	0	0.139131	0	43	21		
TMEM150B	284417	broad.mit.edu	37	19	55831502	55831502	+	Missense_Mutation	SNP	G	G	A	rs61737281	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:55831502G>A	ENST00000326652.4	-	6	411	c.229C>T	c.(229-231)Ctc>Ttc	p.L77F	TMEM150B_ENST00000438693.1_Missense_Mutation_p.L77F	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CAGTCCCGGAGCTGGTGGTAA	0.612													G|||	12	0.00239617	0.0	0.0043	5008	,	,		15083	0.0		0.005	False		,,,				2504	0.0041					uc010esw.1		NaN																	0					0						c.(229-231)CTC>TTC		transmembrane protein 150B precursor		G	PHE/LEU	2,3986		0,2,1992	95.0	96.0	96.0		229	4.9	1.0	19	dbSNP_129	96	67,8241		0,67,4087	yes	missense	TMEM150B	NM_001085488.1	22	0,69,6079	AA,AG,GG		0.8065,0.0502,0.5612	possibly-damaging	77/234	55831502	69,12227	1994	4154	6148	SO:0001583	missense	284417					integral to membrane		g.chr19:55831502G>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.229C>T	19.37:g.55831502G>A	ENSP00000320757:p.Leu77Phe					TMEM150B_uc010yfu.1_Missense_Mutation_p.L77F|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.L77F	p.L77F	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			6	402	-			77			Cytoplasmic (Potential).		B7ZW71	Missense_Mutation	SNP	ENST00000326652.4	37	c.229C>T	CCDS42629.1	7	0.003205128205128205	0	0.0	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	.	16.52	3.145482	0.57044	5.02E-4	0.008065	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.49432	0.78;0.78	4.89	4.89	0.63831	.	0.147383	0.45126	D	0.000397	T	0.43188	0.1236	M	0.80422	2.495	0.44627	D	0.997607	P	0.37708	0.606	B	0.37198	0.243	T	0.54016	-0.8356	10	0.42905	T	0.14	-35.0556	13.9045	0.63826	0.0:0.0:1.0:0.0	.	77	A6NC51	T150B_HUMAN	F	77	ENSP00000320757:L77F;ENSP00000412658:L77F	ENSP00000320757:L77F	L	-	1	0	TMEM150B	60523314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.063000	0.30567	2.431000	0.82371	0.561000	0.74099	CTC		0.612	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1		NM_001085488		5	149	0	0	0	0.021553	0	5	149		
NLRP4	147945	broad.mit.edu	37	19	56392885	56392885	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:56392885G>C	ENST00000301295.6	+	10	3339	c.2917G>C	c.(2917-2919)Gag>Cag	p.E973Q	NLRP4_ENST00000346986.5_Missense_Mutation_p.E917Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.E898Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	973					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGACGGCTGAGGAAGAGAG	0.433																																						uc002qmd.3		NaN																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2917-2919)GAG>CAG		NLR family, pyrin domain containing 4							79.0	65.0	70.0					19																	56392885		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56392885G>C	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2917G>C	19.37:g.56392885G>C	ENSP00000301295:p.Glu973Gln					NLRP4_uc002qmf.2_Missense_Mutation_p.E898Q|NLRP4_uc010etf.2_Missense_Mutation_p.E748Q	p.E973Q	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	10	3339	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	973					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2917G>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546450	0.27652	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.53857	0.6;0.64	3.14	2.1	0.27182	.	.	.	.	.	T	0.64000	0.2559	M	0.63428	1.95	0.09310	N	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.71870	0.931;0.975;0.946	T	0.49360	-0.8948	9	0.62326	D	0.03	.	6.2971	0.21091	0.1383:0.0:0.8617:0.0	.	917;898;973	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Q	973;917	ENSP00000301295:E973Q;ENSP00000344787:E917Q	ENSP00000301295:E973Q	E	+	1	0	NLRP4	61084697	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	1.068000	0.30629	0.875000	0.35847	-0.145000	0.13849	GAG		0.433	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		32	21	0	0	0	0.144211	0	32	21		
PEG3	5178	broad.mit.edu	37	19	57327167	57327167	+	Silent	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:57327167A>G	ENST00000326441.9	-	10	3006	c.2643T>C	c.(2641-2643)ccT>ccC	p.P881P	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.P881P|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.P755P|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.P757P|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	881					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCCCTTCACAAGGGTTCTCTC	0.443																																						uc002qnu.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2641-2643)CCT>CCC		paternally expressed 3 isoform 1							89.0	89.0	89.0					19																	57327167		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327167A>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2643T>C	19.37:g.57327167A>G						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.P852P|PEG3_uc002qnv.2_Silent_p.P881P|PEG3_uc002qnw.2_Silent_p.P757P|PEG3_uc002qnx.2_Silent_p.P755P|PEG3_uc010etr.2_Silent_p.P881P	p.P881P	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2994	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	881					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2643T>C	CCDS12948.1																																																																																				0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2				24	110	0	0	0	0.069288	0	24	110		
ZNF587	84914	broad.mit.edu	37	19	58371262	58371262	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:58371262C>T	ENST00000339656.5	+	3	1664	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Silent_p.C451C|ZNF587_ENST00000423137.1_Silent_p.C493C|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CGTATGAATGCAGTGAATGTG	0.413																																					Pancreas(59;641 1233 1885 20055 50741)	uc002qql.2		NaN																	0					0						c.(1480-1482)TGC>TGT		zinc finger protein 587							144.0	148.0	147.0					19																	58371262		2203	4300	6503	SO:0001819	synonymous_variant	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58371262C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1482C>T	19.37:g.58371262C>T						ZNF587_uc002qqb.2_Silent_p.C451C|ZNF587_uc010yhh.1_Silent_p.C451C|ZNF587_uc002qqi.1_Silent_p.C451C|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.C493C	p.C494C	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1620	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	494			C2H2-type 11.		A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	c.1482C>T	CCDS12964.1																																																																																				0.413	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2		NM_032828		42	230	0	0	0	0.104719	0	42	230		
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2		NaN																	2	Substitution - coding silent(2)		kidney(2)		0						c.(994-996)TCG>TCC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1268	-			332			C2H2-type 5.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708		2	12	0	0	0	0.115264	0	2	12		
ZFP36L2	678	broad.mit.edu	37	2	43452168	43452168	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:43452168T>C	ENST00000282388.3	-	2	1068	c.775A>G	c.(775-777)Agc>Ggc	p.S259G	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	259					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCCGAGAAGCTGAGGCTGTGG	0.756																																						uc002rsv.3		NaN																	0					0						c.(775-777)AGC>GGC		zinc finger protein 36, C3H type-like 2							11.0	20.0	17.0					2																	43452168		2145	4230	6375	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452168T>C	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.775A>G	2.37:g.43452168T>C	ENSP00000282388:p.Ser259Gly					LOC100129726_uc010ynx.1_5'Flank	p.S259G	NM_006887	NP_008818	P47974	TISD_HUMAN			2	1066	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	259					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.775A>G	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794788	0.90453	.	.	ENSG00000152518	ENST00000282388	T	0.58358	0.34	4.37	4.37	0.52481	.	0.095535	0.64402	D	0.000001	T	0.60637	0.2284	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.64542	-0.6383	10	0.87932	D	0	-30.8876	12.5657	0.56308	0.0:0.0:0.0:1.0	.	259	P47974	TISD_HUMAN	G	259	ENSP00000282388:S259G	ENSP00000282388:S259G	S	-	1	0	ZFP36L2	43305672	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.635000	0.67841	1.608000	0.50180	0.459000	0.35465	AGC		0.756	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2		NM_006887		7	12	0	0	0	0.038147	0	7	12		
DUSP11	8446	broad.mit.edu	37	2	73993695	73993695	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:73993695G>C	ENST00000272444.3	-	8	826	c.785C>G	c.(784-786)tCa>tGa	p.S262*	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	215					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						AAAATCACTTGACCTGGGTAC	0.378																																						uc002sjp.2		NaN																	0				skin(1)	1						c.(784-786)TCA>TGA		dual specificity phosphatase 11							119.0	118.0	118.0					2																	73993695		2203	4300	6503	SO:0001587	stop_gained	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:73993695G>C	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.785C>G	2.37:g.73993695G>C	ENSP00000272444:p.Ser262*						p.S262*	NM_003584	NP_003575	O75319	DUS11_HUMAN			8	827	-			215					B2RCT8|Q6AI47|Q9BWE3	Nonsense_Mutation	SNP	ENST00000272444.3	37	c.785C>G	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911139	0.52439	.	.	ENSG00000144048	ENST00000272444	.	.	.	4.82	4.82	0.62117	.	0.641724	0.15218	N	0.274120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-4.3783	13.6163	0.62110	0.0:0.0:1.0:0.0	.	.	.	.	X	262	.	ENSP00000272444:S262X	S	-	2	0	DUSP11	73847203	1.000000	0.71417	0.641000	0.29422	0.437000	0.31866	3.969000	0.56816	2.677000	0.91161	0.563000	0.77884	TCA		0.378	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3				74	43	0	0	0	0.139131	0	74	43		
SUCLG1	8802	broad.mit.edu	37	2	84670479	84670479	+	Missense_Mutation	SNP	C	C	T	rs539350409		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:84670479C>T	ENST00000393868.2	-	3	457	c.247G>A	c.(247-249)Gtt>Att	p.V83I		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	83					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GTTCCTCCAACGAGTTTGGTG	0.498																																					Ovarian(48;203 1101 37206 40305 50790)	uc002son.2		NaN																	0					0						c.(247-249)GTT>ATT		succinate-CoA ligase, GDP-forming alpha subunit	Succinic acid(DB00139)						105.0	96.0	99.0					2																	84670479		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84670479C>T	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.247G>A	2.37:g.84670479C>T	ENSP00000377446:p.Val83Ile					SUCLG1_uc010ysk.1_Missense_Mutation_p.V70I	p.V83I	NM_003849	NP_003840	P53597	SUCA_HUMAN			3	440	-			83					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.247G>A	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341356	0.60963	.	.	ENSG00000163541	ENST00000393868	D	0.84589	-1.87	5.9	5.9	0.94986	CoA-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94361	0.8187	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.96;0.996	D	0.95062	0.8196	10	0.87932	D	0	-24.8556	17.7706	0.88491	0.0:1.0:0.0:0.0	.	83;83	B7Z438;P53597	.;SUCA_HUMAN	I	83	ENSP00000377446:V83I	ENSP00000377446:V83I	V	-	1	0	SUCLG1	84523990	1.000000	0.71417	0.966000	0.40874	0.866000	0.49608	7.818000	0.86416	2.808000	0.96608	0.650000	0.86243	GTT		0.498	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2		NM_003849		47	29	0	0	0	0.139131	0	47	29		
AFF3	3899	broad.mit.edu	37	2	100209756	100209756	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:100209756C>G	ENST00000409236.2	-	13	2479	c.2367G>C	c.(2365-2367)ttG>ttC	p.L789F	AFF3_ENST00000356421.2_Missense_Mutation_p.L814F|AFF3_ENST00000317233.4_Missense_Mutation_p.L789F|AFF3_ENST00000409579.1_Missense_Mutation_p.L814F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	789					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CAGGGGCGCTCAATACCCCTG	0.577																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2365-2367)TTG>TTC		AF4/FMR2 family, member 3 isoform 1							59.0	61.0	60.0					2																	100209756		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209756C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2367G>C	2.37:g.100209756C>G	ENSP00000387207:p.Leu789Phe					AFF3_uc002taf.2_Missense_Mutation_p.L814F|AFF3_uc010fiq.1_Missense_Mutation_p.L789F|AFF3_uc010yvr.1_Missense_Mutation_p.L942F|AFF3_uc002tah.1_Missense_Mutation_p.L814F	p.L789F	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2603	-			789					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2367G>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367642	0.24771	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.5	3.63	0.41609	.	0.830420	0.10002	N	0.728376	T	0.66963	0.2843	L	0.44542	1.39	0.09310	N	1	D;P;P	0.55800	0.973;0.913;0.834	P;P;B	0.53954	0.651;0.738;0.382	T	0.56019	-0.8048	10	0.59425	D	0.04	.	12.2876	0.54800	0.1348:0.7357:0.1295:0.0	.	942;789;814	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	F	789;814;814;789;789;942	ENSP00000317421:L789F;ENSP00000348793:L814F;ENSP00000386834:L814F;ENSP00000387207:L789F	ENSP00000317421:L789F	L	-	3	2	AFF3	99576188	0.795000	0.28851	0.008000	0.14137	0.276000	0.26787	1.446000	0.35090	0.625000	0.30304	0.561000	0.74099	TTG		0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		22	40	0	0	0	0.069288	0	22	40		
SLC5A7	60482	broad.mit.edu	37	2	108626840	108626840	+	Silent	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:108626840T>C	ENST00000264047.2	+	9	1542	c.1266T>C	c.(1264-1266)ctT>ctC	p.L422L	SLC5A7_ENST00000409059.1_Silent_p.L422L|SLC5A7_ENST00000540517.1_Silent_p.L317L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	422					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)			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)	CCCAGCTGCTTTGTGTACTCT	0.498																																						uc002tdv.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1264-1266)CTT>CTC		solute carrier family 5 (choline transporter),	Choline(DB00122)						248.0	206.0	220.0					2																	108626840		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626840T>C	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.1266T>C	2.37:g.108626840T>C						SLC5A7_uc010ywm.1_Silent_p.L175L|SLC5A7_uc010fjj.2_Silent_p.L422L|SLC5A7_uc010ywn.1_Silent_p.L309L	p.L422L	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1542	+			422			Helical; (Potential).		Q53TF2	Silent	SNP	ENST00000264047.2	37	c.1266T>C	CCDS2074.1																																																																																				0.498	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1				53	45	0	0	0	0.139131	0	53	45		
IWS1	55677	broad.mit.edu	37	2	128253576	128253576	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:128253576C>G	ENST00000295321.4	-	7	1973	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	572	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CAGCTCACCTCAGCAGCTTCA	0.468																																						uc002ton.2		NaN																	0				ovary(1)	1						c.(1714-1716)GAG>CAG		IWS1 homolog							179.0	170.0	173.0					2																	128253576		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128253576C>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1714G>C	2.37:g.128253576C>G	ENSP00000295321:p.Glu572Gln					IWS1_uc010yzl.1_RNA	p.E572Q	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	7	2017	-	Colorectal(110;0.1)		572					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1714G>C	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115188	0.94339	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.20738	2.05	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	L	0.43701	1.375	0.80722	D	1	P	0.38250	0.624	B	0.43658	0.426	T	0.01222	-1.1414	10	0.42905	T	0.14	-17.1999	19.1892	0.93658	0.0:1.0:0.0:0.0	.	572	Q96ST2	IWS1_HUMAN	Q	572;525	ENSP00000295321:E572Q	ENSP00000295321:E572Q	E	-	1	0	IWS1	127970046	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.770000	0.85390	2.553000	0.86117	0.563000	0.77884	GAG		0.468	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2		NM_017969		119	85	0	0	0	0.139131	0	119	85		
XIRP2	129446	broad.mit.edu	37	2	168100730	168100730	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:168100730G>C	ENST00000409195.1	+	9	2917	c.2828G>C	c.(2827-2829)gGa>gCa	p.G943A	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G721A|XIRP2_ENST00000295237.9_Missense_Mutation_p.G943A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	768					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTGACAGAGGAGATGTGAAG	0.343																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(2827-2829)GGA>GCA		xin actin-binding repeat containing 2 isoform 1							55.0	52.0	53.0					2																	168100730		1844	4091	5935	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100730G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2828G>C	2.37:g.168100730G>C	ENSP00000386840:p.Gly943Ala					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G768A|XIRP2_uc010fpq.2_Missense_Mutation_p.G721A|XIRP2_uc010fpr.2_Intron	p.G943A	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2846	+			768			Xin 12.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2828G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200375	0.38905	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.06449	3.32;3.32;3.3	5.98	5.98	0.97165	.	0.109042	0.64402	D	0.000009	T	0.24470	0.0593	M	0.72118	2.19	0.53688	D	0.999971	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.00023	-1.2331	10	0.66056	D	0.02	-24.0968	14.5942	0.68392	0.0713:0.0:0.9287:0.0	.	768;768;721	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	943;943;721	ENSP00000386840:G943A;ENSP00000295237:G943A;ENSP00000387255:G721A	ENSP00000295237:G943A	G	+	2	0	XIRP2	167808976	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.180000	0.58296	2.838000	0.97847	0.655000	0.94253	GGA		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		32	36	0	0	0	0.134883	0	32	36		
MYO3B	140469	broad.mit.edu	37	2	171356164	171356164	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:171356164C>G	ENST00000408978.4	+	27	3278	c.3135C>G	c.(3133-3135)ctC>ctG	p.L1045L	MYO3B_ENST00000409044.3_Silent_p.L1045L|MYO3B_ENST00000334231.6_Silent_p.L1054L|MYO3B_ENST00000602629.1_Intron	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1045	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGGTTTTTCTCAAATATTACC	0.388																																						uc002ufy.2		NaN																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(3133-3135)CTC>CTG		myosin IIIB isoform 2							76.0	71.0	73.0					2																	171356164		1864	4105	5969	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171356164C>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3135C>G	2.37:g.171356164C>G						MYO3B_uc002ufv.2_Silent_p.L1032L|MYO3B_uc010fqb.1_Silent_p.L1032L|MYO3B_uc002ufz.2_Silent_p.L1045L|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_Intron	p.L1045L	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			27	3278	+			1045			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.3135C>G	CCDS42773.1																																																																																				0.388	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1				9	60	0	0	0	0.069234	0	9	60		
INO80D	54891	broad.mit.edu	37	2	206869542	206869542	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:206869542C>T	ENST00000403263.1	-	11	3038	c.2634G>A	c.(2632-2634)gtG>gtA	p.V878V		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	711					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTCCAAGTGGCACCTCAAGTT	0.547																																						uc002vaz.3		NaN																	0				ovary(1)	1						c.(2632-2634)GTG>GTA		INO80 complex subunit D							91.0	94.0	93.0					2																	206869542		2054	4212	6266	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869542C>T		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2634G>A	2.37:g.206869542C>T							p.V878V	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	3039	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.2634G>A	CCDS46500.1																																																																																				0.547	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759		21	35	0	0	0	0.055883	0	21	35		
INPP5D	3635	broad.mit.edu	37	2	234079249	234079249	+	Splice_Site	SNP	C	C	T	rs375044485		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:234079249C>T	ENST00000359570.5	+	18	1863	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	INPP5D_ENST00000455936.2_Splice_Site_p.F385F|INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000450745.1_Splice_Site_p.F385F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	633					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCTACACTTCGGTAAGAGCA	0.577																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1897-1899)TTC>TTT		SH2 containing inositol phosphatase isoform a		C	,	0,4108		0,0,2054	58.0	60.0	59.0		1159,1159	-8.4	0.9	2		59	1,8385		0,1,4192	no	coding-synonymous-near-splice,coding-synonymous-near-splice	INPP5D	NM_001017915.1,NM_005541.3	,	0,1,6246	TT,TC,CC		0.0119,0.0,0.0080	,	633/1190,632/1189	234079249	1,12493	2054	4193	6247	SO:0001630	splice_region_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234079249C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1864+1C>T	2.37:g.234079249C>T						INPP5D_uc010zmp.1_Silent_p.F632F	p.F633F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	15	2052	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	633					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.1899C>T																																																																																					0.577	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001017915	Silent	16	18	0	0	0	0.132662	0	16	18		
COL6A3	1293	broad.mit.edu	37	2	238277740	238277740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:238277740G>A	ENST00000295550.4	-	10	4818	c.4366C>T	c.(4366-4368)Cga>Tga	p.R1456*	COL6A3_ENST00000353578.4_Nonsense_Mutation_p.R1250*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.R1256*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.R1255*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.R1250*|COL6A3_ENST00000472056.1_Nonsense_Mutation_p.R849*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1456	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAAAATCTCGAATATGTGCA	0.458																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4366-4368)CGA>TGA		alpha 3 type VI collagen isoform 1 precursor							66.0	62.0	63.0					2																	238277740		2203	4300	6503	SO:0001587	stop_gained	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277740G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4366C>T	2.37:g.238277740G>A	ENSP00000295550:p.Arg1456*					COL6A3_uc002vwo.2_Nonsense_Mutation_p.R1250*|COL6A3_uc010znj.1_Nonsense_Mutation_p.R849*	p.R1456*	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4651	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1456			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	c.4366C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	39	7.825190	0.98510	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.29	4.4	0.53042	.	0.000000	0.46442	D	0.000294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	15.4203	0.75006	0.0:0.0:0.8602:0.1398	.	.	.	.	X	1456;1255;1250;849;1250;1256	.	ENSP00000295550:R1456X	R	-	1	2	COL6A3	237942479	1.000000	0.71417	0.009000	0.14445	0.013000	0.08279	3.951000	0.56684	1.207000	0.43291	0.650000	0.86243	CGA		0.458	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		21	15	0	0	0	0.055883	0	21	15		
RBCK1	10616	broad.mit.edu	37	20	390664	390664	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:390664C>T	ENST00000356286.5	+	2	867	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000475269.1_Silent_p.D54D|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400245.3_3'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	54	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAACGCAGGACATCAGGTGAG	0.567																																						uc002wdp.3		NaN																	0					0						c.(160-162)GAC>GAT		RanBP-type and C3HC4-type zinc finger containing							63.0	50.0	55.0					20																	390664		2203	4300	6503	SO:0001819	synonymous_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:390664C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.162C>T	20.37:g.390664C>T						RBCK1_uc010zpl.1_Silent_p.D54D|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Intron|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Intron|RBCK1_uc002wdo.2_RNA	p.D54D	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			2	855	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	54			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Silent	SNP	ENST00000356286.5	37	c.162C>T	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	8.105	0.777419	0.16120	.	.	ENSG00000125826	ENST00000414880	.	.	.	4.68	0.315	0.15852	.	.	.	.	.	T	0.40570	0.1122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-10.3802	1.0875	0.01656	0.1477:0.4113:0.1602:0.2808	.	.	.	.	I	46	.	.	T	+	2	0	RBCK1	338664	0.113000	0.22115	0.999000	0.59377	0.750000	0.42670	-0.539000	0.06113	0.210000	0.20664	-1.012000	0.02466	ACA		0.567	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3		NM_031229		24	41	0	0	0	0.076483	0	24	41		
BFSP1	631	broad.mit.edu	37	20	17492687	17492687	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:17492687G>C	ENST00000377873.3	-	4	600	c.561C>G	c.(559-561)atC>atG	p.I187M	BFSP1_ENST00000377868.2_Missense_Mutation_p.I62M|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000544874.1_Missense_Mutation_p.I48M|BFSP1_ENST00000536626.1_Missense_Mutation_p.I48M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	187	Linker 12.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GCAGGATGCTGATATAGGTCT	0.473																																						uc002wpo.2		NaN																	0				central_nervous_system(1)	1						c.(559-561)ATC>ATG		filensin isoform 1							152.0	114.0	127.0					20																	17492687		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17492687G>C	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.561C>G	20.37:g.17492687G>C	ENSP00000367104:p.Ile187Met					BFSP1_uc002wpp.2_Missense_Mutation_p.I62M|BFSP1_uc010zrn.1_Missense_Mutation_p.I48M|BFSP1_uc010zro.1_Missense_Mutation_p.I48M	p.I187M	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			4	600	-			187			Rod.|Linker 12.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.561C>G	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859297	0.51376	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.89746	-2.56;1.26;1.26;1.26	5.09	2.01	0.26516	Filament (1);	0.123600	0.53938	D	0.000048	D	0.87164	0.6109	L	0.36672	1.1	0.09310	N	1	D;D	0.55800	0.958;0.973	P;P	0.58454	0.748;0.839	T	0.77945	-0.2397	10	0.72032	D	0.01	-9.5758	4.4244	0.11497	0.1613:0.0:0.5283:0.3103	.	62;187	Q12934-2;Q12934	.;BFSP1_HUMAN	M	187;62;48;48	ENSP00000367104:I187M;ENSP00000367099:I62M;ENSP00000442522:I48M;ENSP00000439870:I48M	ENSP00000367099:I62M	I	-	3	3	BFSP1	17440687	0.998000	0.40836	0.018000	0.16275	0.949000	0.60115	1.469000	0.35343	0.245000	0.21373	0.561000	0.74099	ATC		0.473	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6		NM_001195		17	62	0	0	0	0.038395	0	17	62		
SYNDIG1	79953	broad.mit.edu	37	20	24524190	24524190	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:24524190G>A	ENST00000376862.3	+	2	1090	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	153	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGTGGAGGAGGAGGAGGAGTT	0.542																																						uc002wtw.1		NaN																	0					0						c.(457-459)GAG>AAG		transmembrane protein 90B							83.0	89.0	87.0					20																	24524190		2202	4296	6498	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524190G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.457G>A	20.37:g.24524190G>A	ENSP00000366058:p.Glu153Lys						p.E153K	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	1090	+			153			Poly-Glu.|Cytoplasmic (Potential).		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.457G>A	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215109	0.79352	.	.	ENSG00000101463	ENST00000376862	D	0.91894	-2.93	5.61	5.61	0.85477	.	0.148702	0.48286	D	0.000200	D	0.90885	0.7136	M	0.70275	2.135	0.58432	D	0.999995	P	0.49090	0.919	B	0.38378	0.272	D	0.92124	0.5706	10	0.62326	D	0.03	-32.478	17.1195	0.86698	0.0:0.0:1.0:0.0	.	153	Q9H7V2	SYNG1_HUMAN	K	153	ENSP00000366058:E153K	ENSP00000366058:E153K	E	+	1	0	SYNDIG1	24472190	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.200000	0.95010	2.651000	0.90000	0.655000	0.94253	GAG		0.542	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1		NM_024893		44	114	0	0	0	0.139131	0	44	114		
KIAA1755	85449	broad.mit.edu	37	20	36870149	36870149	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:36870149G>C	ENST00000279024.4	-	3	655	c.384C>G	c.(382-384)ctC>ctG	p.L128L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	128										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCACTGTGCAGAGGTCCAGGG	0.537																																						uc002xhy.1		NaN																	0				ovary(4)|pancreas(1)	5						c.(382-384)CTC>CTG		hypothetical protein LOC85449							103.0	101.0	101.0					20																	36870149		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36870149G>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.384C>G	20.37:g.36870149G>C						KIAA1755_uc002xhz.1_Silent_p.L128L	p.L128L	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	656	-		Myeloproliferative disorder(115;0.00874)	128					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.384C>G	CCDS33467.1																																																																																				0.537	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3		NM_001029864		42	135	0	0	0	0.11126	0	42	135		
PPP1R16B	26051	broad.mit.edu	37	20	37547022	37547022	+	Missense_Mutation	SNP	A	A	C	rs61752055	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:37547022A>C	ENST00000299824.1	+	11	1606	c.1417A>C	c.(1417-1419)Aag>Cag	p.K473Q	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K431Q	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	473					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.K473Q(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAGCAGCTACAAGGAACAGAG	0.642													A|||	15	0.00299521	0.0008	0.0043	5008	,	,		17327	0.0		0.0099	False		,,,				2504	0.001					uc002xje.2		NaN																	1	Substitution - Missense(1)	p.K473Q(1)	kidney(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(1417-1419)AAG>CAG		protein phosphatase 1 regulatory inhibitor		A	GLN/LYS,GLN/LYS	4,4402	8.1+/-20.4	0,4,2199	59.0	59.0	59.0		1291,1417	5.2	1.0	20	dbSNP_129	59	57,8543	34.3+/-88.2	1,55,4244	yes	missense,missense	PPP1R16B	NM_001172735.1,NM_015568.2	53,53	1,59,6443	CC,CA,AA		0.6628,0.0908,0.469	benign,benign	431/526,473/568	37547022	61,12945	2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547022A>C	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1417A>C	20.37:g.37547022A>C	ENSP00000299824:p.Lys473Gln					PPP1R16B_uc010ggc.2_Missense_Mutation_p.K431Q	p.K473Q	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			11	1606	+		Myeloproliferative disorder(115;0.00878)	473					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1417A>C	CCDS13309.1	12	0.005494505494505495	0	0.0	3	0.008287292817679558	0	0.0	9	0.011873350923482849	A	17.85	3.490365	0.64074	9.08E-4	0.006628	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.72505	-0.43;-0.66	5.2	5.2	0.72013	.	0.268003	0.38381	N	0.001707	T	0.56673	0.2001	L	0.40543	1.245	0.26820	N	0.96881	P;P	0.46656	0.882;0.67	P;B	0.44477	0.451;0.368	T	0.56414	-0.7983	10	0.26408	T	0.33	.	13.6305	0.62191	1.0:0.0:0.0:0.0	rs61752055	431;473	E9PFS8;Q96T49	.;PP16B_HUMAN	Q	473;431	ENSP00000299824:K473Q;ENSP00000362428:K431Q	ENSP00000299824:K473Q	K	+	1	0	PPP1R16B	36980436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.677000	0.54619	1.957000	0.56846	0.533000	0.62120	AAG		0.642	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2		NM_015568		5	122	0	0	0	0.014758	0	5	122		
SLC12A5	57468	broad.mit.edu	37	20	44676189	44676189	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:44676189C>G	ENST00000454036.2	+	15	2002	c.1953C>G	c.(1951-1953)atC>atG	p.I651M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.I628M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	651					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGACTCATCTACAAGTACA	0.572																																						uc010zxl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1951-1953)ATC>ATG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						163.0	144.0	150.0					20																	44676189		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44676189C>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1953C>G	20.37:g.44676189C>G	ENSP00000387694:p.Ile651Met					SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.I628M	p.I651M	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			15	2029	+		Myeloproliferative disorder(115;0.0122)	651			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1953C>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354622	0.61293	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98762	-5.12;-5.12	4.07	3.1	0.35709	Amino acid permease domain (1);	0.121832	0.56097	N	0.000037	D	0.98466	0.9489	M	0.78223	2.4	0.80722	D	1	D;P	0.53462	0.96;0.951	P;P	0.58660	0.843;0.823	D	0.98212	1.0473	10	0.87932	D	0	.	7.7354	0.28810	0.0:0.7999:0.0:0.2001	.	651;628	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	M	651;628	ENSP00000387694:I651M;ENSP00000243964:I628M	ENSP00000243964:I628M	I	+	3	3	SLC12A5	44109596	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.210000	0.51129	0.865000	0.35603	0.563000	0.77884	ATC		0.572	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1				18	156	0	0	0	0.043863	0	18	156		
SLC12A5	57468	broad.mit.edu	37	20	44676672	44676672	+	Missense_Mutation	SNP	C	C	G	rs200020521		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:44676672C>G	ENST00000454036.2	+	16	2078	c.2029C>G	c.(2029-2031)Cgc>Ggc	p.R677G	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R654G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	677					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGTGCGGCTCGCTATGCCCT	0.602																																						uc010zxl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2029-2031)CGC>GGC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						83.0	63.0	70.0					20																	44676672		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44676672C>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2029C>G	20.37:g.44676672C>G	ENSP00000387694:p.Arg677Gly					SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.R654G	p.R677G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			16	2105	+		Myeloproliferative disorder(115;0.0122)	677					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2029C>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775618	0.70107	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98747	-5.11;-5.11	3.92	3.92	0.45320	Amino acid permease domain (1);	0.134040	0.50627	D	0.000108	D	0.99360	0.9775	H	0.96175	3.78	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.73708	0.981;0.912	D	0.98450	1.0591	10	0.59425	D	0.04	.	14.669	0.68929	0.0:1.0:0.0:0.0	.	677;654	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	G	677;654	ENSP00000387694:R677G;ENSP00000243964:R654G	ENSP00000243964:R654G	R	+	1	0	SLC12A5	44110079	0.993000	0.37304	0.968000	0.41197	0.488000	0.33401	3.150000	0.50662	1.992000	0.58205	0.455000	0.32223	CGC		0.602	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1				4	17	0	0	0	0.009096	0	4	17		
CDH22	64405	broad.mit.edu	37	20	44806753	44806753	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:44806753C>T	ENST00000372262.3	-	10	2147	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	CDH22_ENST00000537909.1_Missense_Mutation_p.D583N	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	583	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCCCACTGTCTACCACCAGG	0.632																																						uc002xrm.2		NaN																	0				ovary(4)|skin(1)	5						c.(1747-1749)GAC>AAC		cadherin 22 precursor							94.0	69.0	78.0					20																	44806753		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44806753C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1747G>A	20.37:g.44806753C>T	ENSP00000361336:p.Asp583Asn					CDH22_uc010ghk.1_Missense_Mutation_p.D583N	p.D583N	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			10	2148	-		Myeloproliferative disorder(115;0.0122)	583			Cadherin 5.|Extracellular (Potential).		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1747G>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389731	0.95988	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.65364	-0.15;-0.15	4.36	4.36	0.52297	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82296	0.5006	H	0.94345	3.525	0.58432	D	0.999998	D	0.61080	0.989	P	0.59357	0.856	D	0.88137	0.2842	10	0.87932	D	0	.	15.618	0.76784	0.0:1.0:0.0:0.0	.	583	Q9UJ99	CAD22_HUMAN	N	583	ENSP00000361336:D583N;ENSP00000437790:D583N	ENSP00000361336:D583N	D	-	1	0	CDH22	44240160	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.606000	0.82863	2.263000	0.75096	0.650000	0.86243	GAC		0.632	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1		NM_021248		6	37	0	0	0	0.021553	0	6	37		
ZNF831	128611	broad.mit.edu	37	20	57767194	57767194	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:57767194G>A	ENST00000371030.2	+	1	1120	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	374							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCCGAGTCCGAGGGGGAggg	0.761																																						uc002yan.2		NaN																	0				skin(13)|ovary(1)	14						c.(1120-1122)GAG>AAG		zinc finger protein 831							6.0	8.0	7.0					20																	57767194		1533	3566	5099	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767194G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1120G>A	20.37:g.57767194G>A	ENSP00000360069:p.Glu374Lys						p.E374K	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1120	+	all_lung(29;0.0085)		374					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1120G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204161	0.58234	.	.	ENSG00000124203	ENST00000371030	T	0.11063	2.81	4.97	4.0	0.46444	.	.	.	.	.	T	0.18173	0.0436	L	0.51422	1.61	0.09310	N	1	D	0.63046	0.992	P	0.50708	0.648	T	0.04593	-1.0940	9	0.62326	D	0.03	-21.1331	12.8221	0.57698	0.0812:0.0:0.9188:0.0	.	374	Q5JPB2	ZN831_HUMAN	K	374	ENSP00000360069:E374K	ENSP00000360069:E374K	E	+	1	0	ZNF831	57200589	1.000000	0.71417	0.854000	0.33618	0.434000	0.31775	6.106000	0.71511	2.318000	0.78349	0.650000	0.86243	GAG		0.761	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		6	12	0	0	0	0.02938	0	6	12		
CDH4	1002	broad.mit.edu	37	20	60511869	60511869	+	Silent	SNP	C	C	T	rs549406943		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:60511869C>T	ENST00000360469.5	+	16	2707	c.2619C>T	c.(2617-2619)agC>agT	p.S873S	CDH4_ENST00000543233.1_Silent_p.S799S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	873	Ser-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACGAGGGGAGCGGCTCCACCG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12620	0.0		0.0	False		,,,				2504	0.0					uc002ybn.1		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(2617-2619)AGC>AGT		cadherin 4, type 1 preproprotein							50.0	47.0	48.0					20																	60511869		2203	4299	6502	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511869C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2619C>T	20.37:g.60511869C>T						CDH4_uc002ybp.1_Silent_p.S799S|uc002ybr.1_5'Flank	p.S873S	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2633	+			873			Ser-rich.|Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2619C>T	CCDS13488.1																																																																																				0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794		7	48	0	0	0	0.02938	0	7	48		
EEF1A2	1917	broad.mit.edu	37	20	62121972	62121972	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:62121972C>T	ENST00000298049.7	-	5	959	c.889G>A	c.(889-891)Gag>Aag	p.E297K	EEF1A2_ENST00000217182.3_Missense_Mutation_p.E297K			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	297					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCAGAGCCTCGTGGTGCATC	0.627																																						uc002yfd.1		NaN																	0					0						c.(889-891)GAG>AAG		eukaryotic translation elongation factor 1 alpha							101.0	91.0	94.0					20																	62121972		2199	4294	6493	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62121972C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.889G>A	20.37:g.62121972C>T	ENSP00000298049:p.Glu297Lys					EEF1A2_uc002yfe.1_Missense_Mutation_p.E297K|EEF1A2_uc010gkg.1_Missense_Mutation_p.E297K	p.E297K	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		5	990	-	all_cancers(38;9.45e-12)		297					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.889G>A	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011074	0.93346	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.64085	-0.08;-0.08	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.315843	0.32563	N	0.005931	T	0.75679	0.3882	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	0.962;1.0	P;D	0.91635	0.893;0.999	T	0.79831	-0.1637	10	0.87932	D	0	-21.0665	16.0768	0.80974	0.0:1.0:0.0:0.0	.	273;297	Q59GP5;Q05639	.;EF1A2_HUMAN	K	297	ENSP00000298049:E297K;ENSP00000217182:E297K	ENSP00000217182:E297K	E	-	1	0	EEF1A2	61592416	1.000000	0.71417	0.986000	0.45419	0.832000	0.47134	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GAG		0.627	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1		NM_001958		38	104	0	0	0	0.092188	0	38	104		
GRIK1	2897	broad.mit.edu	37	21	31062135	31062135	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr21:31062135C>A	ENST00000399907.1	-	3	868	c.457G>T	c.(457-459)Gat>Tat	p.D153Y	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Missense_Mutation_p.D153Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D153Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D153Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.D153Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.D153Y|GRIK1_ENST00000399914.1_Missense_Mutation_p.D153Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D153Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.D153Y	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	153					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GCTGCATAATCTGGGTAAAGG	0.473																																						uc002yno.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(457-459)GAT>TAT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						218.0	202.0	208.0					21																	31062135		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31062135C>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.457G>T	21.37:g.31062135C>A	ENSP00000382791:p.Asp153Tyr					GRIK1_uc002ynn.2_Missense_Mutation_p.D153Y|GRIK1_uc011acs.1_Missense_Mutation_p.D153Y|GRIK1_uc011act.1_Missense_Mutation_p.D97Y|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.D153Y	p.D153Y	NM_000830	NP_000821	P39086	GRIK1_HUMAN			3	921	-			153			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.457G>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564048	0.86335	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.02	5.02	0.67125	Extracellular ligand-binding receptor (1);	0.050517	0.85682	D	0.000000	T	0.52451	0.1735	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.997;0.997;0.997;0.996	D;D;D;D;D	0.69824	0.966;0.966;0.966;0.966;0.943	T	0.56631	-0.7947	10	0.87932	D	0	.	18.1293	0.89596	0.0:1.0:0.0:0.0	.	153;153;153;153;153	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	Y	153;153;153;153;153;97;153;153;153;153	ENSP00000327687:D153Y;ENSP00000373777:D153Y;ENSP00000382797:D153Y;ENSP00000382798:D153Y;ENSP00000446326:D153Y;ENSP00000373776:D153Y;ENSP00000382791:D153Y;ENSP00000382793:D153Y;ENSP00000311646:D153Y	ENSP00000311646:D153Y	D	-	1	0	GRIK1	29984006	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.238000	0.78173	2.594000	0.87642	0.655000	0.94253	GAT		0.473	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1				90	140	1	0	3.90494e-43	0.139131	4.35183e-43	90	140		
RUNX1	861	broad.mit.edu	37	21	36206817	36206817	+	Missense_Mutation	SNP	C	C	A	rs368711448		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr21:36206817C>A	ENST00000344691.4	-	4	2191	c.614G>T	c.(613-615)cGg>cTg	p.R205L	RUNX1_ENST00000300305.3_Missense_Mutation_p.R232L|RUNX1_ENST00000325074.5_Missense_Mutation_p.R220L|RUNX1_ENST00000437180.1_Missense_Mutation_p.R232L|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000358356.5_Missense_Mutation_p.R205L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	205	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R232L(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGCTGTGCGCCGCAGCTGCTC	0.612			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	uc002yuh.2		NaN		Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		1	Substitution - Missense(1)		endometrium(1)	haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						c.(613-615)CGG>CTG		runt-related transcription factor 1 isoform							104.0	106.0	106.0					21																	36206817		2203	4300	6503	SO:0001583	missense	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36206817C>A	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.614G>T	21.37:g.36206817C>A	ENSP00000340690:p.Arg205Leu					RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Missense_Mutation_p.R232L|RUNX1_uc010gmv.2_Missense_Mutation_p.R232L|RUNX1_uc002yuj.3_Missense_Mutation_p.R100L|RUNX1_uc002yuk.3_Missense_Mutation_p.R232L|RUNX1_uc002yul.1_5'UTR|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Missense_Mutation_p.R232L|RUNX1_uc002yuo.1_Missense_Mutation_p.R205L	p.R205L	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN			4	2192	-			205	Missing: No DNA-binding.		Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.614G>T	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461429	0.84317	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399245;ENST00000358356;ENST00000399237	D;D;D;D;D;D	0.99353	-4.25;-4.27;-4.27;-4.25;-5.77;-5.77	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	M	0.72894	2.215	0.80722	D	1	D;D;P;D	0.63880	0.965;0.978;0.94;0.993	P;D;P;D	0.74023	0.545;0.969;0.683;0.982	D	0.99872	1.1098	10	0.32370	T	0.25	-20.5609	17.9888	0.89162	0.0:1.0:0.0:0.0	.	232;205;232;205	Q2TAM6;Q01196-3;Q01196-8;Q01196	.;.;.;RUNX1_HUMAN	L	205;232;232;220;208;205;220	ENSP00000340690:R205L;ENSP00000300305:R232L;ENSP00000409227:R232L;ENSP00000319459:R220L;ENSP00000351123:R205L;ENSP00000382182:R220L	ENSP00000300305:R232L	R	-	2	0	RUNX1	35128687	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.850000	0.69473	2.250000	0.74265	0.400000	0.26472	CGG		0.612	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1				59	45	1	0	7.73544e-29	0.139131	8.50483e-29	59	45		
DSCAM	1826	broad.mit.edu	37	21	41465774	41465774	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr21:41465774C>T	ENST00000400454.1	-	21	4201	c.3724G>A	c.(3724-3726)Gac>Aac	p.D1242N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1242	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D1242N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAAACGAGTCGGGAGAGGCC	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3724-3726)GAC>AAC		Down syndrome cell adhesion molecule isoform							73.0	72.0	72.0					21																	41465774		1948	4137	6085	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41465774C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3724G>A	21.37:g.41465774C>T	ENSP00000383303:p.Asp1242Asn					DSCAM_uc002yyr.1_RNA	p.D1242N	NM_001389	NP_001380	O60469	DSCAM_HUMAN			21	4176	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1242			Fibronectin type-III 4.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3724G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026184	0.54683	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56275	0.47;0.47	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	N	0.20766	0.605	0.51767	D	0.999936	D	0.89917	1.0	D	0.72075	0.976	T	0.53528	-0.8426	10	0.18710	T	0.47	.	18.3338	0.90280	0.0:1.0:0.0:0.0	.	1242	O60469	DSCAM_HUMAN	N	1242;994	ENSP00000383303:D1242N;ENSP00000385342:D994N	ENSP00000383303:D1242N	D	-	1	0	DSCAM	40387644	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.726000	0.84824	2.312000	0.78011	0.467000	0.42956	GAC		0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		21	41	0	0	0	0.069288	0	21	41		
PCNT	5116	broad.mit.edu	37	21	47809235	47809235	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr21:47809235C>T	ENST00000359568.5	+	19	3836	c.3729C>T	c.(3727-3729)ctC>ctT	p.L1243L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1243					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAAGCTTTCTCATGAGCCCAG	0.577																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(3727-3729)CTC>CTT		pericentrin							97.0	97.0	97.0					21																	47809235		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47809235C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3729C>T	21.37:g.47809235C>T						PCNT_uc002zjj.2_Silent_p.L1125L	p.L1243L	NM_006031	NP_006022	O95613	PCNT_HUMAN			19	3836	+	Breast(49;0.112)		1243					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.3729C>T	CCDS33592.1																																																																																				0.577	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		31	83	0	0	0	0.059317	0	31	83		
SUSD2	56241	broad.mit.edu	37	22	24579560	24579560	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr22:24579560A>T	ENST00000358321.3	+	3	646	c.385A>T	c.(385-387)Act>Tct	p.T129S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	129					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CATCCCCTTCACTGTGTCACT	0.642																																						uc002zzn.1		NaN																	0				skin(1)	1						c.(385-387)ACT>TCT		sushi domain containing 2 precursor							106.0	90.0	95.0					22																	24579560		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579560A>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.385A>T	22.37:g.24579560A>T	ENSP00000351075:p.Thr129Ser						p.T129S	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			3	429	+			129			Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.385A>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	A	5.798	0.331551	0.10956	.	.	ENSG00000099994	ENST00000358321	T	0.07800	3.16	3.5	3.5	0.40072	.	0.960707	0.08666	N	0.911626	T	0.10294	0.0252	M	0.67953	2.075	0.25757	N	0.984996	B	0.22003	0.063	B	0.19946	0.027	T	0.45891	-0.9230	10	0.09084	T	0.74	-13.5567	8.8392	0.35131	1.0:0.0:0.0:0.0	.	129	Q9UGT4	SUSD2_HUMAN	S	129	ENSP00000351075:T129S	ENSP00000351075:T129S	T	+	1	0	SUSD2	22909560	0.905000	0.30787	0.905000	0.35620	0.625000	0.37756	1.638000	0.37165	1.859000	0.53934	0.369000	0.22263	ACT		0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1		NM_019601		45	30	0	0	0	0.139131	0	45	30		
EMID1	129080	broad.mit.edu	37	22	29628275	29628275	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr22:29628275G>A	ENST00000404820.3	+	8	834	c.707G>A	c.(706-708)cGg>cAg	p.R236Q	EMID1_ENST00000334018.6_Missense_Mutation_p.R236Q|EMID1_ENST00000404755.3_Missense_Mutation_p.R236Q|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	234	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGCCCTGGCCGGGCTGGAGCT	0.701																																						uc003aen.2		NaN																	0					0						c.(700-702)CGG>CAG		EMI domain containing 1							21.0	27.0	25.0					22																	29628275		2169	4233	6402	SO:0001583	missense	129080					collagen		g.chr22:29628275G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.707G>A	22.37:g.29628275G>A	ENSP00000384452:p.Arg236Gln					EMID1_uc003aem.2_Missense_Mutation_p.R236Q|EMID1_uc003aeo.2_Missense_Mutation_p.R236Q|EMID1_uc003aep.2_Missense_Mutation_p.R236Q	p.R234Q	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			8	776	+			234			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.701G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.015|5.015	0.188476|0.188476	0.09547|0.09547	.|.	.|.	ENSG00000186998|ENSG00000186998	ENST00000433143|ENST00000334018;ENST00000404755;ENST00000404820	.|D;D;D	.|0.92965	.|-3.14;-3.14;-3.14	4.85|4.85	0.0283|0.0283	0.14158|0.14158	.|.	.|0.331818	.|0.21698	.|N	.|0.070470	T|T	0.72550|0.72550	0.3474|0.3474	N|N	0.02142|0.02142	-0.665|-0.665	0.23537|0.23537	N|N	0.997469|0.997469	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.0;0.001;0.0;0.0	T|T	0.63346|0.63346	-0.6658|-0.6658	5|10	.|0.07644	.|T	.|0.81	-3.7531|-3.7531	7.2089|7.2089	0.25923|0.25923	0.6047:0.0:0.3953:0.0|0.6047:0.0:0.3953:0.0	.|.	.|236;236;234;236	.|B0QYK4;B0QYK5;Q96A84;Q96A84-3	.|.;.;EMID1_HUMAN;.	R|Q	99|236	.|ENSP00000335481:R236Q;ENSP00000385414:R236Q;ENSP00000384452:R236Q	.|ENSP00000335481:R236Q	G|R	+|+	1|2	0|0	EMID1|EMID1	27958275|27958275	0.143000|0.143000	0.22626|0.22626	0.794000|0.794000	0.32065|0.32065	0.946000|0.946000	0.59487|0.59487	-0.090000|-0.090000	0.11163|0.11163	0.221000|0.221000	0.20879|0.20879	-0.474000|-0.474000	0.04947|0.04947	GGG|CGG		0.701	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1		NM_133455		31	25	0	0	0	0.134883	0	31	25		
PLCL2	23228	broad.mit.edu	37	3	17051752	17051752	+	Missense_Mutation	SNP	C	C	T	rs369709033		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:17051752C>T	ENST00000418129.2	+	2	1001	c.536C>T	c.(535-537)aCg>aTg	p.T179M	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.T179M|PLCL2_ENST00000432376.1_Missense_Mutation_p.T179M	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	305	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGTTTAAAAACGAGCAAAATT	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21952	0.0		0.0	False		,,,				2504	0.0					uc011awc.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(889-891)ACG>ATG		phospholipase C-like 2 isoform 1		C	MET/THR,MET/THR	0,4406		0,0,2203	71.0	76.0	74.0		918,536	1.3	0.1	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PLCL2	NM_001144382.1,NM_015184.5	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	305/1128,179/1002	17051752	1,13005	2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051752C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.536C>T	3.37:g.17051752C>T	ENSP00000409637:p.Thr179Met					PLCL2_uc010het.1_Intron|PLCL2_uc011awd.1_Missense_Mutation_p.T179M	p.T297M	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	995	+			305					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.890C>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455904	0.26161	0.0	1.16E-4	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.17528	2.27;2.27;2.27	5.54	1.32	0.21799	EF-hand-like domain (1);	0.280180	0.41938	N	0.000783	T	0.11495	0.0280	.	.	.	0.25811	N	0.984393	P	0.51351	0.944	B	0.43331	0.416	T	0.16335	-1.0406	8	.	.	.	.	1.788	0.03046	0.1376:0.4778:0.1333:0.2513	.	305	Q9UPR0	PLCL2_HUMAN	M	179;306;179;179	ENSP00000409637:T179M;ENSP00000379979:T179M;ENSP00000412836:T179M	.	T	+	2	0	PLCL2	17026756	0.965000	0.33210	0.074000	0.20217	0.848000	0.48234	2.274000	0.43390	-0.052000	0.13311	0.563000	0.77884	ACG		0.348	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3				30	83	0	0	0	0.125774	0	30	83		
NKTR	4820	broad.mit.edu	37	3	42679721	42679721	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:42679721G>C	ENST00000232978.8	+	13	2713	c.2525G>C	c.(2524-2526)aGa>aCa	p.R842T	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	842					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAAAAAAACAGAGGTGAAGAA	0.413																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(2524-2526)AGA>ACA		natural killer-tumor recognition sequence							53.0	58.0	56.0					3																	42679721		2186	4295	6481	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679721G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2525G>C	3.37:g.42679721G>C	ENSP00000232978:p.Arg842Thr					NKTR_uc003clm.1_Missense_Mutation_p.R589T|NKTR_uc003clp.2_Missense_Mutation_p.R589T|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R732T|NKTR_uc003clr.1_Missense_Mutation_p.R589T|NKTR_uc003cls.2_Missense_Mutation_p.R542T	p.R842T	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2672	+			842						Missense_Mutation	SNP	ENST00000232978.8	37	c.2525G>C	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932469	0.34096	.	.	ENSG00000114857	ENST00000232978	T	0.12672	2.66	5.67	5.67	0.87782	.	0.265230	0.36482	N	0.002576	T	0.15696	0.0378	L	0.60455	1.87	0.80722	D	1	P;P	0.37731	0.607;0.473	B;B	0.34652	0.187;0.091	T	0.02574	-1.1139	10	0.27785	T	0.31	-26.4499	15.2709	0.73699	0.0:0.1397:0.8602:0.0	.	542;842	Q6M1B8;P30414	.;NKTR_HUMAN	T	842	ENSP00000232978:R842T	ENSP00000232978:R842T	R	+	2	0	NKTR	42654725	0.997000	0.39634	0.950000	0.38849	0.655000	0.38815	2.869000	0.48444	2.674000	0.91012	0.655000	0.94253	AGA		0.413	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		14	50	0	0	0	0.146539	0	14	50		
BSN	8927	broad.mit.edu	37	3	49698687	49698687	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:49698687G>A	ENST00000296452.4	+	6	9523	c.9409G>A	c.(9409-9411)Gat>Aat	p.D3137N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3137					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGTCCCCGCTGATAGCCGTGC	0.622																																						uc003cxe.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(9409-9411)GAT>AAT		bassoon protein							65.0	53.0	57.0					3																	49698687		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698687G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9409G>A	3.37:g.49698687G>A	ENSP00000296452:p.Asp3137Asn						p.D3137N	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9523	+			3137					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.9409G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004804	0.54254	.	.	ENSG00000164061	ENST00000296452	T	0.19669	2.13	5.27	5.27	0.74061	.	0.379952	0.28828	N	0.014009	T	0.28665	0.0710	L	0.43152	1.355	0.46113	D	0.998872	P	0.52577	0.954	P	0.47981	0.563	T	0.02042	-1.1224	10	0.62326	D	0.03	-10.9815	18.4836	0.90820	0.0:0.0:1.0:0.0	.	3137	Q9UPA5	BSN_HUMAN	N	3137	ENSP00000296452:D3137N	ENSP00000296452:D3137N	D	+	1	0	BSN	49673691	1.000000	0.71417	0.993000	0.49108	0.192000	0.23643	6.739000	0.74827	2.461000	0.83175	0.561000	0.74099	GAT		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		15	44	0	0	0	0.038395	0	15	44		
IP6K1	9807	broad.mit.edu	37	3	49770248	49770248	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:49770248C>T	ENST00000321599.4	-	4	893	c.592G>A	c.(592-594)Gag>Aag	p.E198K	IP6K1_ENST00000468463.1_Missense_Mutation_p.E198K|IP6K1_ENST00000395238.1_Missense_Mutation_p.E33K|IP6K1_ENST00000460540.1_Missense_Mutation_p.E33K	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	198					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						TCCTTGGACTCGGAGCGCATG	0.567																																						uc003cxm.1		NaN																	0					0						c.(592-594)GAG>AAG		inositol hexakisphosphate kinase 1 isoform 1							84.0	74.0	77.0					3																	49770248		2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49770248C>T	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.592G>A	3.37:g.49770248C>T	ENSP00000323780:p.Glu198Lys					IP6K1_uc003cxn.1_Missense_Mutation_p.E33K|IP6K1_uc011bcv.1_Missense_Mutation_p.E33K|IP6K1_uc003cxo.2_Missense_Mutation_p.E198K	p.E198K	NM_153273	NP_695005	Q92551	IP6K1_HUMAN			4	907	-			198					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.592G>A	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784641	0.70222	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000468463;ENST00000460540	T;T;T;T	0.42513	0.97;2.01;0.97;2.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	M	0.72118	2.19	0.80722	D	1	P;B	0.48089	0.905;0.343	B;B	0.32289	0.143;0.037	T	0.45026	-0.9289	10	0.10902	T	0.67	-12.0684	19.5696	0.95406	0.0:1.0:0.0:0.0	.	198;198	C9JNA8;Q92551	.;IP6K1_HUMAN	K	198;33;198;33	ENSP00000323780:E198K;ENSP00000378659:E33K;ENSP00000420467:E198K;ENSP00000420762:E33K	ENSP00000323780:E198K	E	-	1	0	IP6K1	49745252	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	4.826000	0.62715	2.638000	0.89438	0.467000	0.42956	GAG		0.567	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1		NM_153273		18	44	0	0	0	0.038395	0	18	44		
ADAMTS9	56999	broad.mit.edu	37	3	64607948	64607948	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:64607948G>A	ENST00000498707.1	-	18	2954	c.2612C>T	c.(2611-2613)cCa>cTa	p.P871L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P843L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	871	Spacer.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCTTCAATTGGAATATTGAA	0.438																																						uc003dmg.2		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(2611-2613)CCA>CTA		ADAM metallopeptidase with thrombospondin type 1							82.0	83.0	83.0					3																	64607948		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64607948G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2612C>T	3.37:g.64607948G>A	ENSP00000418735:p.Pro871Leu					ADAMTS9_uc011bfo.1_Missense_Mutation_p.P843L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P700L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P871L	p.P871L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	18	2644	-		Lung NSC(201;0.00682)	871			Spacer.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2612C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904772	0.92035	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.56275	0.47;0.47	5.63	5.63	0.86233	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.994	D	0.84799	0.0783	10	0.87932	D	0	.	19.673	0.95918	0.0:0.0:1.0:0.0	.	843;871;871;871	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	L	843;871	ENSP00000295903:P843L;ENSP00000418735:P871L	ENSP00000295903:P843L	P	-	2	0	ADAMTS9	64582988	1.000000	0.71417	0.959000	0.39883	0.866000	0.49608	9.476000	0.97823	2.668000	0.90789	0.563000	0.77884	CCA		0.438	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				18	47	0	0	0	0.038395	0	18	47		
TOMM70A	9868	broad.mit.edu	37	3	100105732	100105732	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:100105732C>T	ENST00000284320.5	-	2	863	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	139					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTAATAGCCTCAGTATAGCAC	0.383																																						uc003dtw.2		NaN																	0				ovary(1)	1						c.(415-417)GAG>AAG		translocase of outer mitochondrial membrane 70							135.0	129.0	131.0					3																	100105732		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100105732C>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.415G>A	3.37:g.100105732C>T	ENSP00000284320:p.Glu139Lys						p.E139K	NM_014820	NP_055635	O94826	TOM70_HUMAN			2	847	-			139			TPR 1.|Cytoplasmic (Potential).		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.415G>A	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221069	0.39201	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.58210	0.35	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	N	0.03154	-0.405	0.80722	D	1	B	0.26258	0.145	B	0.26416	0.069	T	0.30268	-0.9984	10	0.02654	T	1	-19.501	20.1554	0.98111	0.0:1.0:0.0:0.0	.	139	O94826	TOM70_HUMAN	K	139;32	ENSP00000284320:E139K	ENSP00000284320:E139K	E	-	1	0	TOMM70A	101588422	1.000000	0.71417	0.973000	0.42090	0.841000	0.47740	7.256000	0.78350	2.838000	0.97847	0.591000	0.81541	GAG		0.383	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2				24	103	0	0	0	0.069288	0	24	103		
ARHGAP31	57514	broad.mit.edu	37	3	119134233	119134233	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:119134233G>C	ENST00000264245.4	+	12	3989	c.3457G>C	c.(3457-3459)Gac>Cac	p.D1153H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1153					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTGTAAAGCAGACCCCTGGAG	0.537																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NaN																	0				ovary(2)	2						c.(3457-3459)GAC>CAC		Cdc42 GTPase-activating protein							65.0	65.0	65.0					3																	119134233		1913	4113	6026	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134233G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3457G>C	3.37:g.119134233G>C	ENSP00000264245:p.Asp1153His						p.D1153H	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3989	+			1153					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3457G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381108	0.82792	.	.	ENSG00000031081	ENST00000264245	T	0.07908	3.15	5.65	5.65	0.86999	.	0.207799	0.33327	N	0.005026	T	0.24353	0.0590	L	0.60455	1.87	0.45452	D	0.998429	D	0.71674	0.998	P	0.60173	0.87	T	0.00012	-1.2422	10	0.66056	D	0.02	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	1153	Q2M1Z3	RHG31_HUMAN	H	1153	ENSP00000264245:D1153H	ENSP00000264245:D1153H	D	+	1	0	ARHGAP31	120616923	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	2.631000	0.46502	2.941000	0.99782	0.655000	0.94253	GAC		0.537	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2				14	63	0	0	0	0.105934	0	14	63		
PLS1	5357	broad.mit.edu	37	3	142403175	142403175	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:142403175G>T	ENST00000337777.3	+	8	1039	c.826G>T	c.(826-828)Gtg>Ttg	p.V276L	PLS1_ENST00000457734.2_Missense_Mutation_p.V276L|PLS1_ENST00000497002.1_Missense_Mutation_p.V276L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	276	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GCTGCGATGGGTGAACTACCA	0.413																																						uc010huv.2		NaN																	0				ovary(1)	1						c.(826-828)GTG>TTG		plastin 1							99.0	91.0	94.0					3																	142403175		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142403175G>T	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.826G>T	3.37:g.142403175G>T	ENSP00000336831:p.Val276Leu					PLS1_uc003euz.2_Missense_Mutation_p.V276L|PLS1_uc003eva.2_Missense_Mutation_p.V276L	p.V276L	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			8	985	+			276			Actin-binding 1.|CH 2.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.826G>T	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512795	0.85389	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	4.83	3.94	0.45596	Calponin homology domain (5);	0.052289	0.85682	N	0.000000	D	0.96765	0.8944	L	0.59967	1.855	0.80722	D	1	D	0.63046	0.992	D	0.79108	0.992	D	0.96830	0.9610	10	0.54805	T	0.06	-16.9225	14.8195	0.70062	0.0:0.0:0.8548:0.1452	.	276	Q14651	PLSI_HUMAN	L	276;197;276;276	ENSP00000387890:V276L;ENSP00000417481:V197L;ENSP00000336831:V276L;ENSP00000418700:V276L	ENSP00000336831:V276L	V	+	1	0	PLS1	143885865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.165000	0.77544	1.362000	0.46000	0.591000	0.81541	GTG		0.413	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1		NM_002670		56	53	1	0	5.39261e-20	0.139131	5.83486e-20	56	53		
MED12L	116931	broad.mit.edu	37	3	151112453	151112453	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:151112453G>C	ENST00000474524.1	+	37	5551	c.5513G>C	c.(5512-5514)aGa>aCa	p.R1838T	MED12L_ENST00000273432.4_Missense_Mutation_p.R1698T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1838						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGGCTCCAGATTGGACCCT	0.463																																						uc003eyp.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(5512-5514)AGA>ACA		mediator of RNA polymerase II transcription,							133.0	138.0	137.0					3																	151112453		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151112453G>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5513G>C	3.37:g.151112453G>C	ENSP00000417235:p.Arg1838Thr					MED12L_uc011bnz.1_Missense_Mutation_p.R1698T	p.R1838T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		37	5551	+			1838					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5513G>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556050	0.65425	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.60797	0.37;0.16	5.91	5.91	0.95273	Mediator complex, subunit Med12, catenin-binding (1);	0.053894	0.85682	D	0.000000	T	0.61451	0.2348	M	0.66939	2.045	0.43913	D	0.996552	P;P	0.44816	0.844;0.789	B;B	0.41764	0.366;0.344	T	0.66948	-0.5794	10	0.87932	D	0	-10.236	18.0715	0.89408	0.0:0.0:1.0:0.0	.	1698;1838	F8WAE6;Q86YW9	.;MD12L_HUMAN	T	1838;1698	ENSP00000417235:R1838T;ENSP00000273432:R1698T	ENSP00000273432:R1698T	R	+	2	0	MED12L	152595143	0.993000	0.37304	0.697000	0.30258	0.981000	0.71138	6.470000	0.73558	2.793000	0.96121	0.655000	0.94253	AGA		0.463	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		39	156	0	0	0	0.11126	0	39	156		
RTP2	344892	broad.mit.edu	37	3	187419823	187419823	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:187419823C>T	ENST00000358241.1	-	1	522	c.94G>A	c.(94-96)Gac>Aac	p.D32N	RP11-211G3.3_ENST00000437407.1_5'Flank|RP11-211G3.3_ENST00000449623.1_5'Flank	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	32					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGGTTGGGGTCTATGATGAGC	0.577																																						uc003fro.1		NaN																	0					0						c.(94-96)GAC>AAC		receptor transporting protein 2							136.0	139.0	138.0					3																	187419823		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187419823C>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.94G>A	3.37:g.187419823C>T	ENSP00000350976:p.Asp32Asn						p.D32N	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	1	523	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		32			Cytoplasmic (Potential).		Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.94G>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208894	0.79240	.	.	ENSG00000198471	ENST00000358241	T	0.17370	2.28	4.61	4.61	0.57282	.	0.047856	0.85682	D	0.000000	T	0.36138	0.0956	L	0.57536	1.79	0.34954	D	0.751555	D	0.89917	1.0	D	0.87578	0.998	T	0.32824	-0.9892	10	0.44086	T	0.13	-53.5533	13.2442	0.60014	0.0:1.0:0.0:0.0	.	32	Q5QGT7	RTP2_HUMAN	N	32	ENSP00000350976:D32N	ENSP00000350976:D32N	D	-	1	0	RTP2	188902517	0.998000	0.40836	0.991000	0.47740	0.941000	0.58515	3.888000	0.56204	2.844000	0.97970	0.650000	0.86243	GAC		0.577	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1		NM_001004312		38	181	0	0	0	0.092188	0	38	181		
SENP5	205564	broad.mit.edu	37	3	196612107	196612107	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:196612107G>C	ENST00000323460.5	+	2	304	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	SENP5_ENST00000445299.2_Missense_Mutation_p.E19Q|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	19					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGCCTTTTCTGAGAAATGGAA	0.383																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3		NaN																	0				breast(2)|lung(1)	3						c.(55-57)GAG>CAG		SUMO1/sentrin specific peptidase 5							78.0	80.0	79.0					3																	196612107		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612107G>C	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.55G>C	3.37:g.196612107G>C	ENSP00000327197:p.Glu19Gln					SENP5_uc011bty.1_Missense_Mutation_p.E19Q	p.E19Q	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	304	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		19					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.55G>C	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049327	0.55218	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.31769	1.85;1.48	5.18	4.31	0.51392	.	0.094717	0.46442	D	0.000300	T	0.33469	0.0864	L	0.27053	0.805	0.80722	D	1	B;D	0.69078	0.07;0.997	B;P	0.60789	0.043;0.879	T	0.05649	-1.0872	10	0.36615	T	0.2	-16.2066	7.976	0.30155	0.0871:0.1614:0.7515:0.0	.	19;19	B4DY82;Q96HI0	.;SENP5_HUMAN	Q	19	ENSP00000327197:E19Q;ENSP00000390231:E19Q	ENSP00000327197:E19Q	E	+	1	0	SENP5	198096504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.187000	0.32090	1.508000	0.48769	0.655000	0.94253	GAG		0.383	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1		NM_152699		24	76	0	0	0	0.076483	0	24	76		
LIMCH1	22998	broad.mit.edu	37	4	41668680	41668680	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:41668680C>G	ENST00000313860.7	+	16	2293	c.2239C>G	c.(2239-2241)Caa>Gaa	p.Q747E	LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q588E|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1132E|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q747E|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q576E|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q581E|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q747E|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q593E|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q581E|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q588E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q735E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	747					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCTCAATTCTCAAGGTAAAGA	0.393																																						uc003gvu.3		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2239-2241)CAA>GAA		LIM and calponin homology domains 1 isoform a							105.0	86.0	92.0					4																	41668680		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41668680C>G	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.2239C>G	4.37:g.41668680C>G	ENSP00000316891:p.Gln747Glu					LIMCH1_uc003gvv.3_Missense_Mutation_p.Q747E|LIMCH1_uc003gvw.3_Missense_Mutation_p.Q747E|LIMCH1_uc003gvx.3_Missense_Mutation_p.Q735E|LIMCH1_uc003gwe.3_Intron|LIMCH1_uc003gvy.3_Missense_Mutation_p.Q576E|LIMCH1_uc003gwa.3_Missense_Mutation_p.Q588E|LIMCH1_uc003gvz.3_Missense_Mutation_p.Q1132E|LIMCH1_uc011byu.1_Missense_Mutation_p.Q581E|LIMCH1_uc003gwc.3_Missense_Mutation_p.Q593E|LIMCH1_uc003gwd.3_Missense_Mutation_p.Q581E|LIMCH1_uc011byv.1_Missense_Mutation_p.Q498E|LIMCH1_uc011byw.1_Missense_Mutation_p.Q47E	p.Q747E	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			16	2293	+			747					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.2239C>G	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046214	0.55110	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.38	5.38	0.77491	.	0.146153	0.47093	D	0.000245	T	0.68256	0.2981	M	0.76574	2.34	0.45076	D	0.998098	D;B;B;P;P;P;B;D;P;P;B	0.60575	0.969;0.138;0.268;0.591;0.591;0.904;0.12;0.988;0.775;0.856;0.451	D;B;B;B;B;D;B;D;B;P;B	0.75020	0.93;0.082;0.054;0.312;0.312;0.939;0.143;0.985;0.323;0.523;0.122	T	0.68172	-0.5479	10	0.49607	T	0.09	-20.4445	16.1698	0.81801	0.0:1.0:0.0:0.0	.	588;498;581;581;593;1132;576;735;747;747;747	E7EPK0;B7Z3G0;E9PDJ9;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	E	576;747;747;747;735;1132;588;1131;588;581;593;581;100	ENSP00000425222:Q576E;ENSP00000424825:Q747E;ENSP00000424645:Q747E;ENSP00000316891:Q747E;ENSP00000424437:Q735E;ENSP00000425631:Q1132E;ENSP00000421242:Q588E;ENSP00000426334:Q588E;ENSP00000422864:Q581E;ENSP00000379840:Q593E;ENSP00000371172:Q581E	ENSP00000316891:Q747E	Q	+	1	0	LIMCH1	41363437	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.672000	0.46850	2.802000	0.96397	0.655000	0.94253	CAA		0.393	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2		NM_014988		9	40	0	0	0	0.058154	0	9	40		
GABRG1	2565	broad.mit.edu	37	4	46099350	46099350	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:46099350C>T	ENST00000295452.4	-	2	288	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	41					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCATCTTCATCATCTGCCTTA	0.328																																						uc003gxb.2		NaN																	0				ovary(2)	2						c.(121-123)GAT>AAT		gamma-aminobutyric acid A receptor, gamma 1							154.0	159.0	157.0					4																	46099350		2203	4299	6502	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099350C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.121G>A	4.37:g.46099350C>T	ENSP00000295452:p.Asp41Asn						p.D41N	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	273	-			41			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.121G>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553169	0.86127	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.68624	-0.34	4.96	4.96	0.65561	.	0.000000	0.56097	D	0.000034	T	0.62171	0.2406	L	0.58101	1.795	0.51767	D	0.999936	P	0.37781	0.608	B	0.35413	0.202	T	0.60865	-0.7178	10	0.20519	T	0.43	.	17.3741	0.87386	0.0:1.0:0.0:0.0	.	41	Q8N1C3	GBRG1_HUMAN	N	41	ENSP00000295452:D41N	ENSP00000295452:D41N	D	-	1	0	GABRG1	45794107	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.319000	0.79040	2.567000	0.86603	0.655000	0.94253	GAT		0.328	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1		NM_173536		60	58	0	0	0	0.139131	0	60	58		
PRKG2	5593	broad.mit.edu	37	4	82126175	82126175	+	Silent	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:82126175T>C	ENST00000395578.1	-	2	143	c.27A>G	c.(25-27)aaA>aaG	p.K9K	PRKG2_ENST00000264399.1_Silent_p.K9K|PRKG2_ENST00000418486.2_Silent_p.K9K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	9					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCTTAGAATGTTTAGGTTTCA	0.502																																						uc003hmh.2		NaN																	0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(25-27)AAA>AAG		protein kinase, cGMP-dependent, type II							59.0	53.0	55.0					4																	82126175		2203	4300	6503	SO:0001819	synonymous_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82126175T>C	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.27A>G	4.37:g.82126175T>C						PRKG2_uc011cch.1_Silent_p.K9K	p.K9K	NM_006259	NP_006250	Q13237	KGP2_HUMAN			1	41	-			9					B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	c.27A>G	CCDS3589.1																																																																																				0.502	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1		NM_006259		10	40	0	0	0	0.058154	0	10	40		
UBE2D3	7323	broad.mit.edu	37	4	103730859	103730859	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:103730859C>A	ENST00000453744.2	-	4	603	c.90G>T	c.(88-90)atG>atT	p.M30I	UBE2D3_ENST00000349311.8_Splice_Site_p.M30I|UBE2D3_ENST00000321805.7_Splice_Site_p.M30I|UBE2D3_ENST00000507845.1_Splice_Site_p.M1I|UBE2D3_ENST00000394804.2_Splice_Site_p.M30I|UBE2D3_ENST00000502404.1_Splice_Site_p.M1I|UBE2D3_ENST00000505207.1_Splice_Site_p.M1I|UBE2D3_ENST00000343106.5_Splice_Site_p.M30I|UBE2D3_ENST00000357194.6_Splice_Site_p.M32I|UBE2D3_ENST00000394803.5_Splice_Site_p.M30I|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000350435.7_Splice_Site_p.M24I|UBE2D3_ENST00000338145.3_Splice_Site_p.M30I|UBE2D3_ENST00000504211.1_Splice_Site_p.M1I|UBE2D3_ENST00000394801.4_Splice_Site_p.M30I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	30					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GCCAATGAAACACTAGAAAAA	0.284																																						uc003hwk.2		NaN																	0					0						c.(88-90)ATG>ATT		ubiquitin-conjugating enzyme E2D 3 isoform 1																																				SO:0001630	splice_region_variant	7323				apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr4:103730859C>A	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.89-1G>T	4.37:g.103730859C>A						UBE2D3_uc003hwi.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.M30I|UBE2D3_uc011cet.1_Missense_Mutation_p.M30I|UBE2D3_uc011ceu.1_Missense_Mutation_p.M30I|UBE2D3_uc003hwo.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwp.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwq.2_Missense_Mutation_p.M32I|UBE2D3_uc003hwr.2_Missense_Mutation_p.M30I	p.M30I	NM_181887	NP_871616	P61077	UB2D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)	4	551	-		Hepatocellular(203;0.217)	30					A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	ENST00000453744.2	37	c.90G>T	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199585	0.58126	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404;ENST00000508476;ENST00000508238;ENST00000502690;ENST00000508249	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.36;1.54;1.36;1.36;1.36;1.36;1.54;1.54;1.54	5.62	5.62	0.85841	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.121454	0.64402	D	0.000001	T	0.18130	0.0435	N	0.01168	-0.975	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.002;0.005;0.001	T	0.13045	-1.0524	10	0.39692	T	0.17	.	19.6768	0.95939	0.0:1.0:0.0:0.0	.	32;30;30	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	I	30;30;30;30;30;30;24;30;30;1;32;1;1;1;1;30;30;30	ENSP00000396901:M30I;ENSP00000378280:M30I;ENSP00000378282:M30I;ENSP00000378283:M30I;ENSP00000345285:M30I;ENSP00000318494:M30I;ENSP00000337262:M24I;ENSP00000337208:M30I;ENSP00000344069:M30I;ENSP00000426620:M1I;ENSP00000349722:M32I;ENSP00000426586:M1I;ENSP00000424359:M1I;ENSP00000421904:M1I;ENSP00000424710:M1I;ENSP00000423487:M30I;ENSP00000425762:M30I;ENSP00000421310:M30I	ENSP00000318494:M30I	M	-	3	0	UBE2D3	103949970	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.629000	0.67798	2.634000	0.89283	0.655000	0.94253	ATG		0.284	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2		NM_181893	Missense_Mutation	7	40	1	0	0.000157383	0.038147	0.000160124	7	40		
ANK2	287	broad.mit.edu	37	4	114251565	114251565	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:114251565G>A	ENST00000357077.4	+	27	3117	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	ANK2_ENST00000509550.1_Missense_Mutation_p.E231K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1013K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1022K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1022K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1022	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAATGGTGGAAGGAGAAGG	0.537																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3064-3066)GAA>AAA		ankyrin 2 isoform 1							102.0	84.0	90.0					4																	114251565		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114251565G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3064G>A	4.37:g.114251565G>A	ENSP00000349588:p.Glu1022Lys					ANK2_uc003ibd.3_Missense_Mutation_p.E1013K|ANK2_uc003ibf.3_Missense_Mutation_p.E1022K|ANK2_uc011cgc.1_Missense_Mutation_p.E231K|ANK2_uc003ibg.3_Missense_Mutation_p.E50K|ANK2_uc003ibc.2_Missense_Mutation_p.E998K|ANK2_uc011cgb.1_Missense_Mutation_p.E1037K	p.E1022K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3164	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3064G>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.827751|5.827751	0.96996|0.96996	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.70334|0.70334	0.3212|0.3212	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P|.	0.89917|.	0.999;0.999;0.997;1.0;0.999;0.811|.	D;D;D;D;D;P|.	0.91635|.	0.992;0.996;0.979;0.999;0.972;0.879|.	T|T	0.64723|0.64723	-0.6340|-0.6340	10|5	0.66056|.	D|.	0.02|.	.|.	20.1236|20.1236	0.97970|0.97970	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	231;67;1022;1022;1013;1013|.	E9PCH6;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;.;.;.;.;.|.	K|E	1001;968;1013;101;1037;1022;1022;1022;1013;231|67	ENSP00000423799:E1001K;ENSP00000421011:E968K;ENSP00000421067:E1013K;ENSP00000424722:E1037K;ENSP00000378044:E1022K;ENSP00000349588:E1022K;ENSP00000264366:E1022K;ENSP00000426944:E231K|.	ENSP00000264366:E1022K|.	E|G	+|+	1|2	0|0	ANK2|ANK2	114471014|114471014	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.864000|9.864000	0.99589|0.99589	2.746000|2.746000	0.94184|0.94184	0.563000|0.563000	0.77884|0.77884	GAA|GGA		0.537	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		39	17	0	0	0	0.09836	0	39	17		
EDNRA	1909	broad.mit.edu	37	4	148406959	148406959	+	Silent	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:148406959C>A	ENST00000324300.5	+	2	641	c.126C>A	c.(124-126)ggC>ggA	p.G42G	EDNRA_ENST00000339690.5_Silent_p.G42G|EDNRA_ENST00000358556.4_Silent_p.G42G|EDNRA_ENST00000506066.1_Silent_p.G42G|EDNRA_ENST00000511804.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	42					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CTTTTCGTGGCACAGAGCTCA	0.448																																						uc003iky.2		NaN																	0				ovary(1)|breast(1)	2						c.(124-126)GGC>GGA		endothelin receptor type A isoform a precursor	Bosentan(DB00559)						156.0	132.0	140.0					4																	148406959		2203	4300	6503	SO:0001819	synonymous_variant	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148406959C>A	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.126C>A	4.37:g.148406959C>A						EDNRA_uc011cid.1_Intron|EDNRA_uc010ipe.1_Silent_p.G42G|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Silent_p.G42G	p.G42G	NM_001957	NP_001948	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	2	818	+	all_hematologic(180;0.151)		42			Extracellular (Potential).		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	c.126C>A	CCDS3769.1																																																																																				0.448	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1				24	123	1	0	4.54149e-19	0.069288	4.90097e-19	24	123		
KIAA0922	23240	broad.mit.edu	37	4	154544213	154544213	+	Silent	SNP	C	C	T	rs140734056	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:154544213C>T	ENST00000409663.3	+	29	4072	c.4020C>T	c.(4018-4020)gaC>gaT	p.D1340D	KIAA0922_ENST00000409959.3_Silent_p.D1341D|KIAA0922_ENST00000440693.1_Silent_p.D1257D	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1340						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCATGGTGGACGCCCAGCACT	0.682													C|||	5	0.000998403	0.0038	0.0	5008	,	,		18125	0.0		0.0	False		,,,				2504	0.0					uc003inm.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(4018-4020)GAC>GAT		hypothetical protein LOC23240 isoform 2		C	,	25,4381	29.9+/-59.1	0,25,2178	35.0	36.0	35.0		4023,4020	-1.4	0.0	4	dbSNP_134	35	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	KIAA0922	NM_001131007.1,NM_015196.3	,	0,25,6477	TT,TC,CC		0.0,0.5674,0.1922	,	1341/1611,1340/1610	154544213	25,12979	2203	4299	6502	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154544213C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4020C>T	4.37:g.154544213C>T						KIAA0922_uc010ipp.2_Silent_p.D1341D|KIAA0922_uc010ipq.2_Silent_p.D1109D	p.D1340D	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			29	4072	+	all_hematologic(180;0.093)	Renal(120;0.118)	1340			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.4020C>T	CCDS3783.2																																																																																				0.682	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1		NM_015196		8	57	0	0	0	0.047766	0	8	57		
EXOC3	11336	broad.mit.edu	37	5	464494	464494	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:464494C>T	ENST00000512944.1	+	10	1932	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N	CTD-2228K2.5_ENST00000510714.1_5'Flank|EXOC3_ENST00000315013.5_Silent_p.N581N	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	592					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTATTTCAACGATTTTGCCA	0.443																																						uc003jba.2		NaN																	0					0						c.(1741-1743)AAC>AAT		Sec6 protein							148.0	150.0	149.0					5																	464494		1961	4132	6093	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:464494C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1743C>T	5.37:g.464494C>T							p.N581N	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		10	1871	+		Ovarian(839;0.0563)	592					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.1743C>T	CCDS54830.1																																																																																				0.443	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1		NM_007277		19	209	0	0	0	0.049695	0	19	209		
NDUFS6	4726	broad.mit.edu	37	5	1801637	1801637	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:1801637G>A	ENST00000274137.5	+	1	124	c.106G>A	c.(106-108)Ggg>Agg	p.G36R	MRPL36_ENST00000505818.1_5'Flank|NDUFS6_ENST00000510329.1_3'UTR|MRPL36_ENST00000508987.1_5'Flank|MRPL36_ENST00000505059.2_5'Flank|NDUFS6_ENST00000469176.1_Missense_Mutation_p.G36R|MRPL36_ENST00000382647.7_5'Flank	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	36					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CTCGCCGACCGGGGAGAAGGT	0.721																																						uc003jcy.2		NaN																	0				central_nervous_system(1)	1						c.(106-108)GGG>AGG		NADH dehydrogenase (ubiquinone) Fe-S protein 6,	NADH(DB00157)						12.0	13.0	13.0					5																	1801637		2178	4267	6445	SO:0001583	missense	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1801637G>A	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.106G>A	5.37:g.1801637G>A	ENSP00000274137:p.Gly36Arg					MRPL36_uc003jcx.3_5'Flank	p.G36R	NM_004553	NP_004544	O75380	NDUS6_HUMAN			1	129	+			36						Missense_Mutation	SNP	ENST00000274137.5	37	c.106G>A	CCDS3866.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048243	0.55110	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	T	0.76578	-1.03	4.33	3.46	0.39613	.	0.055826	0.64402	D	0.000001	T	0.72787	0.3504	M	0.72894	2.215	0.44937	D	0.997955	D	0.64830	0.994	B	0.42827	0.399	T	0.70051	-0.4978	10	0.18710	T	0.47	-32.622	9.9755	0.41781	0.098:0.0:0.902:0.0	.	36	O75380	NDUS6_HUMAN	R	36	ENSP00000274137:G36R	ENSP00000274137:G36R	G	+	1	0	NDUFS6	1854637	1.000000	0.71417	0.814000	0.32528	0.069000	0.16628	5.215000	0.65241	1.171000	0.42768	0.650000	0.86243	GGG		0.721	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2		NM_004553		11	9	0	0	0	0.069234	0	11	9		
ADCY2	108	broad.mit.edu	37	5	7520895	7520895	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:7520895G>A	ENST00000338316.4	+	3	542	c.453G>A	c.(451-453)ctG>ctA	p.L151L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	151					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACACCATGCTGCCCTTCAACA	0.522																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(451-453)CTG>CTA		adenylate cyclase 2							194.0	132.0	153.0					5																	7520895		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520895G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.453G>A	5.37:g.7520895G>A							p.L151L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			3	520	+			151			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.453G>A	CCDS3872.2																																																																																				0.522	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		32	150	0	0	0	0.045705	0	32	150		
CDH10	1008	broad.mit.edu	37	5	24509787	24509787	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:24509787G>C	ENST00000264463.4	-	7	1651	c.1144C>G	c.(1144-1146)Cct>Gct	p.P382A		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	382	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTAAAAACAGGAGGTTCATCC	0.393										HNSCC(23;0.051)																												uc003jgr.1		NaN																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1144-1146)CCT>GCT		cadherin 10, type 2 preproprotein							102.0	102.0	102.0					5																	24509787		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509787G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1144C>G	5.37:g.24509787G>C	ENSP00000264463:p.Pro382Ala	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.P382A	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1476	-			382			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1144C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282583	0.80692	.	.	ENSG00000040731	ENST00000264463	D	0.84660	-1.88	5.26	5.26	0.73747	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.94142	3.5	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.95706	0.8753	10	0.66056	D	0.02	.	18.2195	0.89897	0.0:0.0:1.0:0.0	.	382	Q9Y6N8	CAD10_HUMAN	A	382	ENSP00000264463:P382A	ENSP00000264463:P382A	P	-	1	0	CDH10	24545544	1.000000	0.71417	0.994000	0.49952	0.883000	0.51084	9.420000	0.97426	2.625000	0.88918	0.650000	0.86243	CCT		0.393	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2		NM_006727		17	124	0	0	0	0.0333	0	17	124		
ADAMTS12	81792	broad.mit.edu	37	5	33614470	33614470	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:33614470C>G	ENST00000504830.1	-	16	2735	c.2400G>C	c.(2398-2400)caG>caC	p.Q800H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q715H|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	800	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q800H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTTAGTCACCTGGAATAGAA	0.438										HNSCC(64;0.19)																												uc003jia.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2398-2400)CAG>CAC		ADAM metallopeptidase with thrombospondin type 1							146.0	115.0	126.0					5																	33614470		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33614470C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2400G>C	5.37:g.33614470C>G	ENSP00000422554:p.Gln800His	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q715H	p.Q800H	NM_030955	NP_112217	P58397	ATS12_HUMAN			16	2563	-			800			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2400G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173249	0.57584	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.54866	0.55;0.55	5.73	2.58	0.30949	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.71603	-0.4543	10	0.36615	T	0.2	.	11.5243	0.50571	0.0:0.7202:0.0:0.2798	.	715;800	P58397-3;P58397	.;ATS12_HUMAN	H	800;715	ENSP00000422554:Q800H;ENSP00000344847:Q715H	ENSP00000344847:Q715H	Q	-	3	2	ADAMTS12	33650227	0.999000	0.42202	1.000000	0.80357	0.903000	0.53119	0.705000	0.25675	0.782000	0.33613	0.561000	0.74099	CAG		0.438	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		6	90	0	0	0	0.038147	0	6	90		
CAPSL	133690	broad.mit.edu	37	5	35910153	35910153	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:35910153C>G	ENST00000397367.2	-	4	466	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	CAPSL_ENST00000397366.1_Missense_Mutation_p.E114Q|CAPSL_ENST00000514524.1_Missense_Mutation_p.E114Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	114	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATGATTACCTCTTTTCTGGCT	0.353																																						uc003jjt.1		NaN																	0				skin(1)	1						c.(340-342)GAG>CAG		calcyphosine-like							106.0	103.0	104.0					5																	35910153		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910153C>G	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.340G>C	5.37:g.35910153C>G	ENSP00000380524:p.Glu114Gln					CAPSL_uc003jju.1_Missense_Mutation_p.E114Q	p.E114Q	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	435	-	all_lung(31;0.000268)		114			EF-hand 3.			Missense_Mutation	SNP	ENST00000397367.2	37	c.340G>C	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605056	0.46423	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.70516	-0.49;-0.49;-0.49;0.29	5.72	5.72	0.89469	EF-hand-like domain (1);	0.089199	0.85682	D	0.000000	T	0.64204	0.2577	L	0.41632	1.29	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	T	0.58137	-0.7689	10	0.16420	T	0.52	-22.5799	19.8713	0.96852	0.0:1.0:0.0:0.0	.	114	Q8WWF8	CAPSL_HUMAN	Q	114	ENSP00000380524:E114Q;ENSP00000380523:E114Q;ENSP00000424806:E114Q;ENSP00000421018:E114Q	ENSP00000380523:E114Q	E	-	1	0	CAPSL	35945910	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.618000	0.67722	2.706000	0.92434	0.455000	0.32223	GAG		0.353	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2		NM_144647		55	144	0	0	0	0.139131	0	55	144		
EGFLAM	133584	broad.mit.edu	37	5	38435313	38435313	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:38435313G>C	ENST00000354891.3	+	16	2587	c.2241G>C	c.(2239-2241)aaG>aaC	p.K747N	EGFLAM_ENST00000322350.5_Missense_Mutation_p.K747N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.K513N|EGFLAM_ENST00000397202.2_Missense_Mutation_p.K113N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	747	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGTGAAGAAGAACTCGGGTG	0.463																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NaN																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(2239-2241)AAG>AAC		EGF-like, fibronectin type III and laminin G							108.0	106.0	107.0					5																	38435313		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38435313G>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2241G>C	5.37:g.38435313G>C	ENSP00000346964:p.Lys747Asn					EGFLAM_uc003jlb.1_Missense_Mutation_p.K747N|EGFLAM_uc003jle.1_Missense_Mutation_p.K513N|EGFLAM_uc003jlf.1_Missense_Mutation_p.K113N	p.K747N	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			16	2565	+	all_lung(31;0.000385)		747			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2241G>C	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564612	0.27915	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.81	3.99	0.46301	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.219310	0.48286	N	0.000182	T	0.77177	0.4092	M	0.66439	2.03	0.80722	D	1	B;B;B	0.28636	0.072;0.218;0.098	B;B;B	0.35813	0.045;0.211;0.072	T	0.74028	-0.3796	10	0.51188	T	0.08	-10.2078	11.4356	0.50066	0.0675:0.1263:0.8062:0.0	.	513;747;747	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	N	747;747;513;113;513	ENSP00000346964:K747N;ENSP00000313084:K747N;ENSP00000337607:K513N;ENSP00000380385:K113N	ENSP00000313084:K747N	K	+	3	2	EGFLAM	38471070	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	1.804000	0.38873	0.752000	0.32923	0.655000	0.94253	AAG		0.463	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1		NM_152403		30	113	0	0	0	0.125774	0	30	113		
ZNF131	7690	broad.mit.edu	37	5	43122240	43122240	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:43122240G>C	ENST00000399534.1	+	2	129	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	ZNF131_ENST00000509634.1_Missense_Mutation_p.E29Q|ZNF131_ENST00000306938.4_Missense_Mutation_p.E29Q|ZNF131_ENST00000509156.1_Missense_Mutation_p.E29Q|ZNF131_ENST00000505606.2_Missense_Mutation_p.E29Q|ZNF131_ENST00000509931.1_Missense_Mutation_p.E29Q			P52739	ZN131_HUMAN	zinc finger protein 131	29					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGAACAGCGAGAGCAGGACCG	0.517																																						uc011cpw.1		NaN																	0					0						c.(85-87)GAG>CAG		zinc finger protein 131							101.0	99.0	100.0					5																	43122240		1921	4143	6064	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43122240G>C	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.85G>C	5.37:g.43122240G>C	ENSP00000382450:p.Glu29Gln					ZNF131_uc010ivl.1_Missense_Mutation_p.E29Q|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.E29Q|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_RNA|ZNF131_uc010ivm.1_RNA|ZNF131_uc003jnm.2_Missense_Mutation_p.E29Q	p.E29Q	NM_003432	NP_003423	P52739	ZN131_HUMAN			2	121	+			29					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.85G>C		.	.	.	.	.	.	.	.	.	.	G	9.213	1.031318	0.19590	.	.	ENSG00000172262	ENST00000507393;ENST00000515326;ENST00000509156;ENST00000508259;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634;ENST00000509341;ENST00000509931	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.26	4.26	0.50523	BTB/POZ (1);BTB/POZ fold (2);	0.080710	0.51477	U	0.000093	T	0.69052	0.3068	N	0.17764	0.52	0.39878	D	0.97359	D;D;P	0.76494	0.999;0.997;0.518	D;D;B	0.83275	0.996;0.992;0.103	T	0.67852	-0.5563	10	0.25106	T	0.35	-6.6148	15.9993	0.80280	0.0:0.0:1.0:0.0	.	29;29;29	P52739;B3KQ42;P52739-2	ZN131_HUMAN;.;.	Q	77;29;29;29;29;29;29;29;29;29	ENSP00000422079:E29Q;ENSP00000426504:E29Q;ENSP00000422659:E29Q;ENSP00000305804:E29Q;ENSP00000382450:E29Q;ENSP00000423945:E29Q;ENSP00000421246:E29Q;ENSP00000424771:E29Q;ENSP00000425722:E29Q	ENSP00000305804:E29Q	E	+	1	0	ZNF131	43157997	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.552000	0.67281	2.363000	0.80096	0.650000	0.86243	GAG		0.517	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1		NM_003432		89	88	0	0	0	0.139131	0	89	88		
POLK	51426	broad.mit.edu	37	5	74877153	74877153	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:74877153G>A	ENST00000241436.4	+	7	986	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	POLK_ENST00000352007.5_Missense_Mutation_p.E272K|POLK_ENST00000508526.1_Missense_Mutation_p.E272K|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.E182K|POLK_ENST00000504026.1_Missense_Mutation_p.E272K|POLK_ENST00000515295.1_Missense_Mutation_p.E272K	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	272	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTGAACTTTGAAGAACAAAA	0.408								DNA polymerases (catalytic subunits)																														uc003kdw.2		NaN																	0				ovary(2)|kidney(2)	4						c.(814-816)GAA>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							79.0	77.0	77.0					5																	74877153		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74877153G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.814G>A	5.37:g.74877153G>A	ENSP00000241436:p.Glu272Lys					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.E272K|POLK_uc003keb.2_Missense_Mutation_p.E272K|POLK_uc010izq.2_Missense_Mutation_p.E272K|POLK_uc003kec.2_Missense_Mutation_p.E182K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.E182K|POLK_uc003kee.2_Missense_Mutation_p.E272K|POLK_uc003kef.2_Missense_Mutation_p.E182K	p.E272K	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	7	910	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	272			UmuC.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.814G>A	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945260	0.34283	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.49	4.63	0.57726	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.517315	0.22537	N	0.058766	T	0.62060	0.2397	L	0.53249	1.67	0.40773	D	0.983104	B;B;B;B	0.31680	0.335;0.002;0.015;0.044	B;B;B;B	0.27887	0.084;0.005;0.015;0.056	T	0.61088	-0.7133	10	0.37606	T	0.19	-5.8838	9.4057	0.38460	0.1648:0.0:0.8352:0.0	.	272;272;272;272	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	K	272;272;272;272;272;182	ENSP00000241436:E272K;ENSP00000342256:E272K;ENSP00000424174:E272K;ENSP00000425075:E272K;ENSP00000426853:E272K;ENSP00000369848:E182K	ENSP00000241436:E272K	E	+	1	0	POLK	74912909	1.000000	0.71417	0.947000	0.38551	0.972000	0.66771	4.761000	0.62243	1.325000	0.45301	0.462000	0.41574	GAA		0.408	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		NM_016218		24	38	0	0	0	0.076483	0	24	38		
POLK	51426	broad.mit.edu	37	5	74892196	74892196	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:74892196G>A	ENST00000241436.4	+	13	1850	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	POLK_ENST00000352007.5_Missense_Mutation_p.E362K|POLK_ENST00000508526.1_Missense_Mutation_p.E362K|POLK_ENST00000506928.1_3'UTR|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000380481.3_Missense_Mutation_p.E470K|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	560					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAAACCTCTAGAAATGTCTCA	0.358								DNA polymerases (catalytic subunits)																														uc003kdw.2		NaN																	0				ovary(2)|kidney(2)	4						c.(1678-1680)GAA>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							40.0	42.0	41.0					5																	74892196		2198	4297	6495	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892196G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1678G>A	5.37:g.74892196G>A	ENSP00000241436:p.Glu560Lys					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.E362K|POLK_uc003kec.2_Missense_Mutation_p.E470K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.E470K	p.E560K	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1774	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	560					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1678G>A	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410441	0.25465	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.63255	1.1;-0.03;-0.03;1.08	5.66	1.9	0.25705	.	1.163320	0.05834	N	0.618079	T	0.57460	0.2055	L	0.55481	1.735	0.23657	N	0.997183	B;B	0.12013	0.005;0.002	B;B	0.17098	0.017;0.002	T	0.44667	-0.9313	10	0.46703	T	0.11	-7.6403	6.8134	0.23817	0.2624:0.1168:0.6208:0.0	.	362;560	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	K	560;362;362;470	ENSP00000241436:E560K;ENSP00000342256:E362K;ENSP00000426853:E362K;ENSP00000369848:E470K	ENSP00000241436:E560K	E	+	1	0	POLK	74927952	0.902000	0.30710	0.082000	0.20525	0.543000	0.35085	1.346000	0.33964	0.062000	0.16340	-0.137000	0.14449	GAA		0.358	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		NM_016218		24	23	0	0	0	0.083992	0	24	23		
POC5	134359	broad.mit.edu	37	5	74970365	74970365	+	Silent	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:74970365C>A	ENST00000428202.2	-	12	1812	c.1623G>T	c.(1621-1623)cgG>cgT	p.R541R	POC5_ENST00000510798.1_Silent_p.R365R|POC5_ENST00000446329.2_Silent_p.R516R|POC5_ENST00000380475.2_Silent_p.R365R|POC5_ENST00000514838.2_Silent_p.R513R	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	541					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATGAATGGTCCGGGGATATT	0.398																																						uc003keh.3		NaN																	0				lung(1)	1						c.(1621-1623)CGG>CGT		proteome of centriole 5 isoform 1							253.0	248.0	250.0					5																	74970365		1887	4115	6002	SO:0001819	synonymous_variant	134359				cell cycle	centriole		g.chr5:74970365C>A	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1623G>T	5.37:g.74970365C>A						POC5_uc010izu.2_Silent_p.R365R|POC5_uc003keg.3_Silent_p.R516R	p.R541R	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			12	1820	-			541					B4DJG7|Q494X7|Q494X9|Q6P085	Silent	SNP	ENST00000428202.2	37	c.1623G>T	CCDS47236.1																																																																																				0.398	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1		NM_152408		92	79	1	0	8.92586e-32	0.139131	9.8667e-32	92	79		
ACOT12	134526	broad.mit.edu	37	5	80640791	80640791	+	Silent	SNP	G	G	A	rs570010175		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:80640791G>A	ENST00000307624.3	-	8	871	c.843C>T	c.(841-843)atC>atT	p.I281I	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	281	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AAGCACTGTTGATGTGACGCC	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19792	0.0		0.0	False		,,,				2504	0.0					uc003khl.3		NaN																	0				ovary(1)|kidney(1)	2						c.(841-843)ATC>ATT		acyl-CoA thioesterase 12							122.0	116.0	118.0					5																	80640791		2203	4300	6503	SO:0001819	synonymous_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80640791G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.843C>T	5.37:g.80640791G>A						RNU5E_uc011cto.1_Intron	p.I281I	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	8	898	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	281			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Silent	SNP	ENST00000307624.3	37	c.843C>T	CCDS4055.1																																																																																				0.493	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1		NM_130767		44	46	0	0	0	0.104719	0	44	46		
UBE2B	7320	broad.mit.edu	37	5	133724024	133724024	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:133724024G>T	ENST00000265339.2	+	5	667	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	UBE2B_ENST00000511807.1_Intron	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B	84					canonical Wnt signaling pathway (GO:0060070)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to insulin stimulus (GO:0032869)|chiasma assembly (GO:0051026)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|histone lysine demethylation (GO:0070076)|in utero embryonic development (GO:0001701)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of histone phosphorylation (GO:0033128)|positive regulation of reciprocal meiotic recombination (GO:0010845)|postreplication repair (GO:0006301)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|sperm axoneme assembly (GO:0007288)|spermatogenesis (GO:0007283)|synaptonemal complex organization (GO:0070193)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|replication fork (GO:0005657)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTATGCTGATGGTAGCAT	0.348								Rad6 pathway																														uc003kzh.2		NaN																	0				lung(1)	1						c.(250-252)GAT>TAT	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2B							252.0	224.0	234.0					5																	133724024		2203	4300	6503	SO:0001583	missense	7320				canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr5:133724024G>T	M74525	CCDS4174.1	5q31.1	2011-05-19	2011-05-19		ENSG00000119048	ENSG00000119048		"""Ubiquitin-conjugating enzymes E2"""	12473	protein-coding gene	gene with protein product		179095	"""ubiquitin-conjugating enzyme E2B (RAD6 homolog)"""			1559696	Standard	NM_003337		Approved	UBC2, HHR6B, RAD6B	uc003kzh.3	P63146	OTTHUMG00000129120	ENST00000265339.2:c.250G>T	5.37:g.133724024G>T	ENSP00000265339:p.Asp84Tyr						p.D84Y	NM_003337	NP_003328	P63146	UBE2B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	667	+			84					B2R503|D3DQA2|P23567|Q4PJ15|Q9D0J6	Missense_Mutation	SNP	ENST00000265339.2	37	c.250G>T	CCDS4174.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336828	0.60963	.	.	ENSG00000119048	ENST00000265339;ENST00000506787	T;T	0.73789	-0.78;-0.78	6.08	6.08	0.98989	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.89287	3.02	0.80722	D	1	B	0.22746	0.074	B	0.33620	0.167	T	0.81008	-0.1127	10	0.87932	D	0	-17.4877	20.6721	0.99693	0.0:0.0:1.0:0.0	.	84	P63146	UBE2B_HUMAN	Y	84;83	ENSP00000265339:D84Y;ENSP00000426364:D83Y	ENSP00000265339:D84Y	D	+	1	0	UBE2B	133751923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GAT		0.348	UBE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251166.2		NM_003337		20	44	1	0	4.96729e-08	0.049695	5.18271e-08	20	44		
PCDHAC2	56134	broad.mit.edu	37	5	140348520	140348520	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:140348520C>T	ENST00000289269.5	+	1	2701	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	723					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGACAATCATCATTTTGA	0.433																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NaN																	0				ovary(2)|skin(2)	4						c.(2167-2169)ATC>ATT		protocadherin alpha subfamily C, 2 isoform 1							78.0	78.0	78.0					5																	140348520		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348520C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2169C>T	5.37:g.140348520C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.I723I	p.I723I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2409	+			723			Helical; (Potential).		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.2169C>T	CCDS4242.1																																																																																				0.433	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2		NM_018899		14	85	0	0	0	0.11911	0	14	85		
PCDHAC2	56134	broad.mit.edu	37	5	140348753	140348753	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:140348753C>T	ENST00000289269.5	+	1	2934	c.2402C>T	c.(2401-2403)tCa>tTa	p.S801L	PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	801					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGGCTCAGGGAGTGAC	0.552																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NaN																	0				ovary(2)|skin(2)	4						c.(2401-2403)TCA>TTA		protocadherin alpha subfamily C, 2 isoform 1							83.0	80.0	81.0					5																	140348753		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348753C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2402C>T	5.37:g.140348753C>T	ENSP00000289269:p.Ser801Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.S801L	p.S801L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2642	+			801			Cytoplasmic (Potential).		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.2402C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774599	0.70107	.	.	ENSG00000243232	ENST00000289269	T	0.60672	0.17	5.19	5.19	0.71726	.	0.000000	0.34906	N	0.003584	T	0.75466	0.3853	M	0.67569	2.06	0.80722	D	1	D;D	0.76494	0.982;0.999	P;D	0.78314	0.828;0.991	T	0.78237	-0.2282	10	0.87932	D	0	.	18.7059	0.91639	0.0:1.0:0.0:0.0	.	801;801	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	L	801	ENSP00000289269:S801L	ENSP00000289269:S801L	S	+	2	0	PCDHAC2	140328937	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.473000	0.81007	2.436000	0.82500	0.462000	0.41574	TCA		0.552	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2		NM_018899		28	54	0	0	0	0.116897	0	28	54		
RBM22	55696	broad.mit.edu	37	5	150080509	150080509	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:150080509C>G	ENST00000199814.4	-	1	160	c.39G>C	c.(37-39)caG>caC	p.Q13H	RBM22_ENST00000540000.1_Missense_Mutation_p.Q13H|RBM22_ENST00000447771.2_Missense_Mutation_p.Q13H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	13					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCCAGTTCTGCCTGTTGT	0.637											OREG0016939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lst.2		NaN																	0					0						c.(37-39)CAG>CAC		RNA binding motif protein 22							67.0	64.0	65.0					5																	150080509		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150080509C>G	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.39G>C	5.37:g.150080509C>G	ENSP00000199814:p.Gln13His		OREG0016939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1730		p.Q13H	NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	161	-		Medulloblastoma(196;0.167)	13					A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.39G>C	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111805	0.56398	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771;ENST00000518917	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.36	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.81802	2.56	0.58432	D	0.999999	P	0.38473	0.633	B	0.30646	0.118	T	0.02668	-1.1126	10	0.66056	D	0.02	-1.1791	9.9518	0.41642	0.0:0.8465:0.0:0.1535	.	13	Q9NW64	RBM22_HUMAN	H	13	ENSP00000199814:Q13H;ENSP00000441594:Q13H;ENSP00000412118:Q13H;ENSP00000428154:Q13H	ENSP00000199814:Q13H	Q	-	3	2	RBM22	150060702	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.351000	0.34022	1.249000	0.43950	0.655000	0.94253	CAG		0.637	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2		NM_018047		33	31	0	0	0	0.064281	0	33	31		
MSX2	4488	broad.mit.edu	37	5	174156555	174156555	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:174156555C>T	ENST00000239243.6	+	2	900	c.773C>T	c.(772-774)cCa>cTa	p.P258L		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	258					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TATGCCACGCCAGTGGGATAT	0.547																																						uc003mcy.2		NaN																	0					0						c.(772-774)CCA>CTA		msh homeobox 2							75.0	76.0	75.0					5																	174156555		2203	4300	6503	SO:0001583	missense	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174156555C>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.773C>T	5.37:g.174156555C>T	ENSP00000239243:p.Pro258Leu						p.P258L	NM_002449	NP_002440	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	861	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	258					D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	c.773C>T	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294394	0.81025	.	.	ENSG00000120149	ENST00000239243	D	0.92099	-2.97	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.96037	0.8709	M	0.79926	2.475	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	D	0.95094	0.8224	10	0.48119	T	0.1	-11.4734	20.4239	0.99064	0.0:1.0:0.0:0.0	.	258	P35548	MSX2_HUMAN	L	258	ENSP00000239243:P258L	ENSP00000239243:P258L	P	+	2	0	MSX2	174089161	0.970000	0.33590	0.356000	0.25785	0.953000	0.61014	2.438000	0.44837	2.828000	0.97474	0.655000	0.94253	CCA		0.547	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3				27	58	0	0	0	0.108266	0	27	58		
SLC35B3	51000	broad.mit.edu	37	6	8417151	8417151	+	Missense_Mutation	SNP	C	C	G	rs145512512		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:8417151C>G	ENST00000379660.4	-	9	1400	c.951G>C	c.(949-951)ttG>ttC	p.L317F		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	317					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					AAATTTTAATCAAAGCCAGAA	0.348																																					Melanoma(83;700 1353 9357 11478 30548)	uc010joe.2		NaN																	0					0						c.(949-951)TTG>TTC		solute carrier family 35, member B3		C	PHE/LEU,PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	72.0	80.0	77.0		951,951,951	4.5	1.0	6	dbSNP_134	77	0,8598		0,0,4299	no	missense,missense,missense	SLC35B3	NM_001142540.1,NM_001142541.1,NM_015948.3	22,22,22	0,1,6501	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	317/402,317/402,317/402	8417151	1,13003	2203	4299	6502	SO:0001583	missense	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8417151C>G	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.951G>C	6.37:g.8417151C>G	ENSP00000368981:p.Leu317Phe					SLC35B3_uc003mya.2_Missense_Mutation_p.L285F|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.L317F|SLC35B3_uc011did.1_Missense_Mutation_p.L317F|SLC35B3_uc003myd.2_RNA	p.L317F	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN			9	1117	-	Ovarian(93;0.0569)		317			Helical; (Potential).		A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	c.951G>C	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651037	0.67472	2.27E-4	0.0	ENSG00000124786	ENST00000379660	T	0.37915	1.17	5.36	4.47	0.54385	.	0.157935	0.40818	N	0.001014	T	0.58666	0.2138	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.69453	-0.5141	9	.	.	.	-12.0454	15.9399	0.79745	0.0:0.86:0.14:0.0	.	317;317	Q9H1N7;B2R8V5	S35B3_HUMAN;.	F	317	ENSP00000368981:L317F	.	L	-	3	2	SLC35B3	8362150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.011000	0.49567	1.346000	0.45694	0.650000	0.86243	TTG		0.348	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1		NM_015948		45	65	0	0	0	0.139131	0	45	65		
JARID2	3720	broad.mit.edu	37	6	15452374	15452374	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:15452374C>T	ENST00000341776.2	+	4	705	c.461C>T	c.(460-462)aCa>aTa	p.T154I	JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.T116I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	154					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGCCTAAGACAGAAGATTTT	0.488																																						uc003nbj.2		NaN																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(460-462)ACA>ATA		jumonji, AT rich interactive domain 2 protein							94.0	89.0	91.0					6																	15452374		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15452374C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.461C>T	6.37:g.15452374C>T	ENSP00000341280:p.Thr154Ile					JARID2_uc011diu.1_Intron|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.T116I	p.T154I	NM_004973	NP_004964	Q92833	JARD2_HUMAN			4	705	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	154					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.461C>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941867	0.92526	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.36699	1.24;1.24	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.87578	0.998;0.755	T	0.57923	-0.7727	10	0.72032	D	0.01	-7.5032	18.9236	0.92536	0.0:1.0:0.0:0.0	.	116;154	F5H590;Q92833	.;JARD2_HUMAN	I	154;116	ENSP00000341280:T154I;ENSP00000444623:T116I	ENSP00000341280:T154I	T	+	2	0	JARID2	15560353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.453000	0.82957	0.655000	0.94253	ACA		0.488	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1		NM_004973		31	74	0	0	0	0.144211	0	31	74		
SLC17A2	10246	broad.mit.edu	37	6	25918715	25918715	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:25918715C>T	ENST00000265425.3	-	5	669	c.649G>A	c.(649-651)Ggt>Agt	p.G217S	SLC17A2_ENST00000377850.3_Splice_Site_p.G217S|SLC17A2_ENST00000360488.3_Splice_Site_p.G217S			O00624	NPT3_HUMAN	solute carrier family 17, member 2	217					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGTGACTCACCAAAGATGTAG	0.443																																						uc011dkb.1		NaN																	0				ovary(1)	1						c.(649-651)GGT>AGT		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;							87.0	81.0	83.0					6																	25918715		2203	4300	6503	SO:0001630	splice_region_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25918715C>T	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.649+1G>A	6.37:g.25918715C>T						SLC17A2_uc011dkc.1_Missense_Mutation_p.G217S|SLC17A2_uc003nfl.2_Missense_Mutation_p.G217S	p.G217S			O00624	NPT3_HUMAN			5	732	-			217			Helical; (Potential).		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.649G>A		.	.	.	.	.	.	.	.	.	.	C	26.2	4.711741	0.89112	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.61980	0.06;0.06;0.06	4.19	4.19	0.49359	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.106283	0.42682	N	0.000679	T	0.80623	0.4658	H	0.94503	3.545	0.43896	D	0.996528	D;D;D	0.71674	0.994;0.998;0.992	D;D;D	0.74023	0.982;0.982;0.927	D	0.84641	0.0695	9	.	.	.	.	12.3886	0.55347	0.0:1.0:0.0:0.0	.	217;217;217	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	S	217	ENSP00000353677:G217S;ENSP00000367081:G217S;ENSP00000265425:G217S	.	G	-	1	0	SLC17A2	26026694	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.905000	0.63286	2.633000	0.89246	0.650000	0.86243	GGT		0.443	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			Missense_Mutation	11	59	0	0	0	0.069234	0	11	59		
FLOT1	10211	broad.mit.edu	37	6	30698322	30698322	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:30698322G>C	ENST00000376389.3	-	11	1192	c.972C>G	c.(970-972)gcC>gcG	p.A324A	FLOT1_ENST00000456573.2_Silent_p.A276A	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	CTATGGCAAAGGCCTCAGCTT	0.567																																						uc003nrm.2		NaN																	0					0						c.(970-972)GCC>GCG		flotillin 1							78.0	86.0	84.0					6																	30698322		2203	4300	6503	SO:0001819	synonymous_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30698322G>C	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.972C>G	6.37:g.30698322G>C						FLOT1_uc011dmr.1_Silent_p.A276A	p.A324A	NM_005803	NP_005794	O75955	FLOT1_HUMAN			11	1136	-			324					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000376389.3	37	c.972C>G	CCDS4688.1																																																																																				0.567	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2				25	249	0	0	0	0.0918	0	25	249		
VARS2	57176	broad.mit.edu	37	6	30884992	30884992	+	Silent	SNP	G	G	A	rs59234326	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:30884992G>A	ENST00000321897.5	+	8	1496	c.864G>A	c.(862-864)tcG>tcA	p.S288S	VARS2_ENST00000542001.1_Silent_p.S148S|VARS2_ENST00000416670.2_Silent_p.S288S|VARS2_ENST00000541562.1_Silent_p.S318S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	288					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CAGCCATCTCGGACATTGAGG	0.542													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20402	0.0		0.0	False		,,,				2504	0.0					uc003nsc.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(862-864)TCG>TCA		valyl-tRNA synthetase 2, mitochondrial		A	,,	1,3021		0,1,1510	179.0	178.0	178.0		444,954,864	-7.3	0.7	6	dbSNP_129	178	0,5418		0,0,2709	no	coding-synonymous,coding-synonymous,coding-synonymous	VARS2	NM_001167733.1,NM_001167734.1,NM_020442.4	,,	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	,,	148/924,318/1094,288/1064	30884992	1,8439	1511	2709	4220	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884992G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.864G>A	6.37:g.30884992G>A						VARS2_uc003nsd.2_Silent_p.S288S|VARS2_uc011dmx.1_Silent_p.S288S|VARS2_uc011dmy.1_Silent_p.S148S|VARS2_uc011dmz.1_Silent_p.S318S|VARS2_uc011dna.1_Silent_p.S288S|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank	p.S288S	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			8	1496	+			288					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.864G>A	CCDS34387.1																																																																																				0.542	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2		NM_020442		105	119	0	0	0	0.139131	0	105	119		
VARS2	57176	broad.mit.edu	37	6	30889068	30889068	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:30889068G>C	ENST00000321897.5	+	16	2250	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q	VARS2_ENST00000542001.1_Missense_Mutation_p.E400Q|VARS2_ENST00000416670.2_Missense_Mutation_p.E540Q|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.E570Q			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	540					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCTGGTTGTAGAGGACCATGC	0.612																																						uc003nsc.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1618-1620)GAG>CAG		valyl-tRNA synthetase 2, mitochondrial							51.0	48.0	49.0					6																	30889068		2203	4300	6503	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30889068G>C	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1618G>C	6.37:g.30889068G>C	ENSP00000316092:p.Glu540Gln					VARS2_uc011dmx.1_Missense_Mutation_p.E540Q|VARS2_uc011dmy.1_Missense_Mutation_p.E400Q|VARS2_uc011dmz.1_Missense_Mutation_p.E570Q|VARS2_uc011dna.1_Missense_Mutation_p.E538Q|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank	p.E540Q	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			16	2250	+			540					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1618G>C	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533217	0.27387	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.26	3.39	0.38822	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	1.024360	0.07707	N	0.941422	T	0.08133	0.0203	N	0.16656	0.425	0.09310	N	1	B;B;B	0.18013	0.005;0.004;0.025	B;B;B	0.21151	0.021;0.033;0.027	T	0.34625	-0.9821	10	0.13470	T	0.59	-11.0581	8.3718	0.32419	0.0875:0.16:0.7525:0.0	.	538;570;540	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	Q	540;540;400;570	ENSP00000316092:E540Q;ENSP00000394802:E540Q;ENSP00000438200:E400Q;ENSP00000441000:E570Q	ENSP00000316092:E540Q	E	+	1	0	VARS2	30997047	0.240000	0.23847	0.253000	0.24343	0.636000	0.38137	1.376000	0.34306	1.298000	0.44778	0.561000	0.74099	GAG		0.612	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2		NM_020442		25	61	0	0	0	0.0918	0	25	61		
ATP6V1G2	534	broad.mit.edu	37	6	31513918	31513918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:31513918G>A	ENST00000303892.5	-	2	435	c.151C>T	c.(151-153)Cga>Tga	p.R51*	NFKBIL1_ENST00000376148.4_5'Flank|ATP6V1G2-DDX39B_ENST00000376185.1_Nonsense_Mutation_p.R51*|ATP6V1G2_ENST00000376151.4_Intron|ATP6V1G2_ENST00000483170.1_5'UTR|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR|ATP6V1G2_ENST00000483251.1_Nonsense_Mutation_p.R10*|NFKBIL1_ENST00000376145.4_5'Flank	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2	51					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						TCGTGCTCTCGCTCTCTGCGG	0.582																																						uc003nua.2		NaN																	0					0						c.(151-153)CGA>TGA		ATPase, H+ transporting, lysosomal, V1 subunit							274.0	198.0	223.0					6																	31513918		2203	4300	6503	SO:0001587	stop_gained	534				cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding	g.chr6:31513918G>A	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618	ENST00000303892.5:c.151C>T	6.37:g.31513918G>A	ENSP00000302194:p.Arg51*					BAT1_uc003ntv.2_5'UTR|ATP6V1G2_uc003ntz.2_Nonsense_Mutation_p.R10*|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank	p.R51*	NM_130463	NP_569730	O95670	VATG2_HUMAN			2	442	-			51					B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Nonsense_Mutation	SNP	ENST00000303892.5	37	c.151C>T	CCDS4698.1	.	.	.	.	.	.	.	.	.	.	G	38	7.134092	0.98085	.	.	ENSG00000254870;ENSG00000213760;ENSG00000213760;ENSG00000213760;ENSG00000213760	ENST00000475917;ENST00000459671;ENST00000303892;ENST00000483251;ENST00000415099	.	.	.	5.66	2.86	0.33363	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1872	7.1383	0.25541	0.08:0.0:0.4516:0.4684	.	.	.	.	X	51;51;51;10;91	.	ENSP00000302194:R51X	R	-	1	2	ATP6V1G2-DDX39B;ATP6V1G2	31621897	1.000000	0.71417	0.879000	0.34478	0.998000	0.95712	1.242000	0.32755	0.302000	0.22762	0.655000	0.94253	CGA		0.582	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3		NM_130463		52	117	0	0	0	0.139131	0	52	117		
PRRC2A	7916	broad.mit.edu	37	6	31601375	31601375	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:31601375G>A	ENST00000376033.2	+	17	4773	c.4539G>A	c.(4537-4539)agG>agA	p.R1513R	PRRC2A_ENST00000376007.4_Silent_p.R1513R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1513	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTCTCCTAGGCCCCCAACCC	0.612																																						uc003nvb.3		NaN																	0					0						c.(4537-4539)AGG>AGA		HLA-B associated transcript-2							27.0	30.0	29.0					6																	31601375		1507	2706	4213	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31601375G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4539G>A	6.37:g.31601375G>A						BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.R1513R	p.R1513R	NM_080686	NP_542417	P48634	PRC2A_HUMAN			17	4788	+			1513			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.4539G>A	CCDS4708.1																																																																																				0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		12	40	0	0	0	0.09319	0	12	40		
TULP1	7287	broad.mit.edu	37	6	35471368	35471368	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:35471368C>T	ENST00000229771.6	-	13	1370	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	TULP1_ENST00000322263.4_Missense_Mutation_p.E378K	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	431					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCTCGTTCTCCGCACTCATG	0.637																																					GBM(55;1027 1091 11115 23439)	uc003okv.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1291-1293)GAG>AAG		tubby like protein 1							21.0	20.0	20.0					6																	35471368		2201	4296	6497	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35471368C>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1291G>A	6.37:g.35471368C>T	ENSP00000229771:p.Glu431Lys					TULP1_uc003okw.3_Missense_Mutation_p.E378K	p.E431K	NM_003322	NP_003313	O00294	TULP1_HUMAN			13	1303	-			431					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.1291G>A	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323084	0.60634	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.96136	-3.92;-3.92	5.16	5.16	0.70880	Tubby, C-terminal (3);	0.277387	0.38492	N	0.001666	D	0.91140	0.7210	L	0.52759	1.655	0.35959	D	0.834499	B;B	0.10296	0.003;0.0	B;B	0.17433	0.015;0.018	D	0.87579	0.2483	10	0.32370	T	0.25	-2.5382	18.6594	0.91467	0.0:1.0:0.0:0.0	.	378;431	O00294-2;O00294	.;TULP1_HUMAN	K	431;378	ENSP00000229771:E431K;ENSP00000319414:E378K	ENSP00000229771:E431K	E	-	1	0	TULP1	35579346	1.000000	0.71417	0.712000	0.30502	0.640000	0.38277	4.618000	0.61211	2.398000	0.81561	0.491000	0.48974	GAG		0.637	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2				2	5	0	0	0	0.115264	0	2	5		
CYP39A1	51302	broad.mit.edu	37	6	46620303	46620303	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:46620303G>T	ENST00000275016.2	-	1	220	c.17C>A	c.(16-18)cCa>cAa	p.P6Q	SLC25A27_ENST00000371347.5_5'Flank|SLC25A27_ENST00000452689.2_5'Flank|SLC25A27_ENST00000411689.2_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	6					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AATCACTGTTGGGGAAATTAG	0.483																																						uc003oyf.1		NaN																	0				ovary(1)	1						c.(16-18)CCA>CAA		cytochrome P450, family 39, subfamily A,							164.0	171.0	169.0					6																	46620303		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46620303G>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.17C>A	6.37:g.46620303G>T	ENSP00000275016:p.Pro6Gln					CYP39A1_uc011dwa.1_Missense_Mutation_p.P6Q|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank	p.P6Q	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN			1	221	-			6					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.17C>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233872	0.58886	.	.	ENSG00000146233	ENST00000275016	T	0.73681	-0.77	5.07	4.2	0.49525	.	0.629770	0.15050	N	0.283389	T	0.45377	0.1339	L	0.44542	1.39	0.09310	N	1	P;P	0.39964	0.697;0.697	B;B	0.36030	0.216;0.216	T	0.19647	-1.0299	10	0.20046	T	0.44	-0.0573	10.627	0.45512	0.0909:0.0:0.9091:0.0	.	6;6	B7Z786;Q9NYL5	.;CP39A_HUMAN	Q	6	ENSP00000275016:P6Q	ENSP00000275016:P6Q	P	-	2	0	CYP39A1	46728262	0.015000	0.18098	0.001000	0.08648	0.029000	0.11900	1.948000	0.40303	1.272000	0.44329	0.655000	0.94253	CCA		0.483	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1				88	264	1	0	5.42381e-49	0.139131	6.07763e-49	88	264		
RNGTT	8732	broad.mit.edu	37	6	89388140	89388140	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:89388140T>C	ENST00000369485.4	-	14	1626		c.e14-2		RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site|RNGTT_ENST00000538899.1_Splice_Site	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		GGAAGTAACCTACAAAGAAAA	0.279																																						uc003pmr.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.e14-1		RNA guanylyltransferase and 5'-phosphatase							58.0	56.0	57.0					6																	89388140		2203	4300	6503	SO:0001630	splice_region_variant	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89388140T>C	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1440-2A>G	6.37:g.89388140T>C						RNGTT_uc003pms.2_Splice_Site_p.G457_splice|RNGTT_uc011dzu.1_Splice_Site_p.G397_splice|RNGTT_uc003pmt.2_Intron	p.G480_splice	NM_003800	NP_003791	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	14	1660	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)						E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Splice_Site	SNP	ENST00000369485.4	37	c.1440_splice	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808260	0.70797	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.849	0.52401	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNGTT	89444859	1.000000	0.71417	0.963000	0.40424	0.983000	0.72400	4.806000	0.62569	2.109000	0.64355	0.533000	0.62120	.		0.279	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			Intron	22	31	0	0	0	0.076483	0	22	31		
ASCC3	10973	broad.mit.edu	37	6	101214503	101214503	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:101214503T>C	ENST00000369162.2	-	10	2019	c.1675A>G	c.(1675-1677)Atc>Gtc	p.I559V	ASCC3_ENST00000522650.1_Missense_Mutation_p.I559V	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	559	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCACAATGATGCCTAGTGGC	0.383																																						uc003pqk.2		NaN																	0				ovary(5)|skin(1)	6						c.(1675-1677)ATC>GTC		activating signal cointegrator 1 complex subunit							133.0	126.0	128.0					6																	101214503		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101214503T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1675A>G	6.37:g.101214503T>C	ENSP00000358159:p.Ile559Val					ASCC3_uc011eai.1_Missense_Mutation_p.I461V|ASCC3_uc003pql.2_Missense_Mutation_p.I559V	p.I559V	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	10	2004	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	559			Helicase ATP-binding 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1675A>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	5.800	0.331828	0.10956	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.14766	2.48;2.48	5.26	4.07	0.47477	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.053579	0.64402	D	0.000001	T	0.03390	0.0098	N	0.17474	0.49	0.80722	D	1	B;B	0.23377	0.084;0.009	B;B	0.20955	0.032;0.027	T	0.32613	-0.9900	10	0.32370	T	0.25	.	12.5604	0.56277	0.0:0.0:0.1392:0.8608	.	559;559	E7EW23;Q8N3C0	.;HELC1_HUMAN	V	559	ENSP00000358159:I559V;ENSP00000430769:I559V	ENSP00000358159:I559V	I	-	1	0	ASCC3	101321224	1.000000	0.71417	0.978000	0.43139	0.241000	0.25554	5.935000	0.70145	0.923000	0.37045	0.477000	0.44152	ATC		0.383	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828		42	74	0	0	0	0.09836	0	42	74		
GRIK2	2898	broad.mit.edu	37	6	102483434	102483434	+	Silent	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:102483434T>C	ENST00000421544.1	+	14	2794	c.2304T>C	c.(2302-2304)acT>acC	p.T768T	GRIK2_ENST00000369134.4_Silent_p.T719T|GRIK2_ENST00000369138.1_Silent_p.T768T|GRIK2_ENST00000318991.6_Silent_p.T768T|GRIK2_ENST00000413795.1_Silent_p.T768T|GRIK2_ENST00000369137.3_Silent_p.T692T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	768					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCGTTGGCACTCCCATGGGTA	0.443																																						uc003pqp.3		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2302-2304)ACT>ACC		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						93.0	95.0	94.0					6																	102483434		2203	4298	6501	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102483434T>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2304T>C	6.37:g.102483434T>C						GRIK2_uc003pqo.3_Silent_p.T768T|GRIK2_uc010kcw.2_Silent_p.T768T	p.T768T	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	14	2553	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	768			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.2304T>C	CCDS5048.1																																																																																				0.443	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1				47	134	0	0	0	0.131918	0	47	134		
PPIL4	85313	broad.mit.edu	37	6	149867087	149867087	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:149867087C>T	ENST00000253329.2	-	1	87	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	19	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GGCCGTTCTTCGGTGTACAAG	0.647																																						uc003qmo.1		NaN																	0					0						c.(55-57)GAA>AAA		peptidylprolyl isomerase-like 4							33.0	28.0	29.0					6																	149867087		2199	4290	6489	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149867087C>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.55G>A	6.37:g.149867087C>T	ENSP00000253329:p.Glu19Lys					PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.E19K	p.E19K	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	1	85	-		Ovarian(120;0.0164)	19			PPIase cyclophilin-type.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.55G>A	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441953	0.63067	.	.	ENSG00000131013	ENST00000253329	T	0.43688	0.94	4.62	4.62	0.57501	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	N	0.25426	0.745	0.80722	D	1	B;P	0.44776	0.026;0.843	B;B	0.36289	0.013;0.221	T	0.03728	-1.1009	10	0.15952	T	0.53	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	19;19	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	K	19	ENSP00000253329:E19K	ENSP00000253329:E19K	E	-	1	0	PPIL4	149908780	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	6.334000	0.72944	2.544000	0.85801	0.650000	0.86243	GAA		0.647	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1				5	9	0	0	0	0.014758	0	5	9		
SYNE1	23345	broad.mit.edu	37	6	152686043	152686043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:152686043G>A	ENST00000367255.5	-	63	10685	c.10084C>T	c.(10084-10086)Cag>Tag	p.Q3362*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q3369*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q3401*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q3369*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q3362*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3362					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGCAGCTGCTGCTGAATA	0.458										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(10084-10086)CAG>TAG		spectrin repeat containing, nuclear envelope 1							138.0	132.0	134.0					6																	152686043		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152686043G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10084C>T	6.37:g.152686043G>A	ENSP00000356224:p.Gln3362*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.Q3369*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q3362*|SYNE1_uc010kja.1_Nonsense_Mutation_p.Q67*	p.Q3362*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	63	10686	-		Ovarian(120;0.0955)	3362			Spectrin 7.|HAT 6.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.10084C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	55	23.374342	0.99954	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.9013	0.92443	0.0:0.0:1.0:0.0	.	.	.	.	X	3362;3369;3362;3369;3401	.	ENSP00000265368:Q3362X	Q	-	1	0	SYNE1	152727736	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.531000	0.81973	2.462000	0.83206	0.650000	0.86243	CAG		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		37	93	0	0	0	0.064281	0	37	93		
MAD1L1	8379	broad.mit.edu	37	7	2188842	2188842	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:2188842C>G	ENST00000406869.1	-	11	1575	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	MAD1L1_ENST00000399654.2_Missense_Mutation_p.E340Q|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E340Q|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E248Q			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	340					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGCTGCAGCTCAACCACGAAT	0.547																																						uc003slh.1		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(1018-1020)GAG>CAG		MAD1-like 1 protein							97.0	107.0	104.0					7																	2188842		2104	4224	6328	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2188842C>G	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1018G>C	7.37:g.2188842C>G	ENSP00000385334:p.Glu340Gln					MAD1L1_uc003sle.1_Missense_Mutation_p.E69Q|MAD1L1_uc003slf.1_Missense_Mutation_p.E340Q|MAD1L1_uc003slg.1_Missense_Mutation_p.E340Q|MAD1L1_uc010ksh.1_Missense_Mutation_p.E340Q|MAD1L1_uc003sli.1_Missense_Mutation_p.E248Q|MAD1L1_uc010ksi.1_Missense_Mutation_p.E293Q|MAD1L1_uc010ksj.2_Missense_Mutation_p.E340Q	p.E340Q	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	11	1284	-		Ovarian(82;0.0272)	340			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1018G>C	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508648	0.27036	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.56	3.66	0.41972	.	0.328839	0.31734	N	0.007155	T	0.12860	0.0312	L	0.38175	1.15	0.18873	N	0.999989	B;B;B	0.22146	0.065;0.065;0.045	B;B;B	0.18871	0.022;0.022;0.023	T	0.18555	-1.0333	10	0.14252	T	0.57	-33.1478	6.4083	0.21676	0.1819:0.7259:0.0:0.0922	.	339;248;340	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	Q	248;340;340;340	ENSP00000384155:E248Q;ENSP00000382562:E340Q;ENSP00000385334:E340Q;ENSP00000265854:E340Q	ENSP00000265854:E340Q	E	-	1	0	MAD1L1	2155368	0.423000	0.25482	0.943000	0.38184	0.687000	0.40016	1.227000	0.32576	2.614000	0.88457	0.561000	0.74099	GAG		0.547	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1		NM_003550		12	34	0	0	0	0.09319	0	12	34		
ANLN	54443	broad.mit.edu	37	7	36438775	36438775	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:36438775C>T	ENST00000265748.2	+	3	481	c.260C>T	c.(259-261)cCa>cTa	p.P87L	ANLN_ENST00000396068.2_Missense_Mutation_p.P87L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	87	Interaction with CD2AP.|Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AATAAACAACCAGTTGAGTCG	0.418																																						uc003tff.2		NaN																	0				ovary(2)|skin(1)	3						c.(259-261)CCA>CTA		anillin, actin binding protein							77.0	76.0	76.0					7																	36438775		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36438775C>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.260C>T	7.37:g.36438775C>T	ENSP00000265748:p.Pro87Leu					ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Missense_Mutation_p.P87L|ANLN_uc010kxe.2_Missense_Mutation_p.P87L	p.P87L	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			3	464	+			87			Nuclear localization.|Interaction with CD2AP.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.260C>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442829	0.83993	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865	T;T;T	0.02916	4.11;4.11;4.11	5.35	5.35	0.76521	.	0.148216	0.64402	D	0.000008	T	0.15869	0.0382	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.98;0.991;0.98	T	0.00059	-1.2167	10	0.87932	D	0	-17.0726	19.4536	0.94878	0.0:1.0:0.0:0.0	.	87;87;87	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	L	87;87;65	ENSP00000265748:P87L;ENSP00000379380:P87L;ENSP00000404979:P65L	ENSP00000265748:P87L	P	+	2	0	ANLN	36405300	0.998000	0.40836	0.799000	0.32177	0.727000	0.41649	5.957000	0.70323	2.663000	0.90544	0.655000	0.94253	CCA		0.418	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3		NM_018685		14	51	0	0	0	0.105934	0	14	51		
POLD2	5425	broad.mit.edu	37	7	44156568	44156568	+	Missense_Mutation	SNP	C	C	T	rs568159170		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:44156568C>T	ENST00000406581.2	-	7	1277	c.628G>A	c.(628-630)Gag>Aag	p.E210K	POLD2_ENST00000452185.1_Missense_Mutation_p.E210K|POLD2_ENST00000223361.3_Missense_Mutation_p.E210K	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	210					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						AGCAGGCTCTCGCCTCCACCG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		16095	0.0		0.001	False		,,,				2504	0.0					uc010kxz.2		NaN																	0				ovary(2)	2						c.(628-630)GAG>AAG		DNA-directed DNA polymerase delta 2							21.0	24.0	23.0					7																	44156568		2203	4299	6502	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44156568C>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.628G>A	7.37:g.44156568C>T	ENSP00000386105:p.Glu210Lys					POLD2_uc003tke.3_Missense_Mutation_p.E210K|POLD2_uc010kya.2_Missense_Mutation_p.E210K|POLD2_uc003tkf.3_Missense_Mutation_p.E210K	p.E210K	NM_006230	NP_006221	P49005	DPOD2_HUMAN			7	1278	-			210					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.628G>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105172	0.77096	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436844;ENST00000433715	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.77	5.77	0.91146	DNA polymerase alpha/epsilon, subunit B (1);	0.048617	0.85682	D	0.000000	T	0.20659	0.0497	L	0.31664	0.95	0.80722	D	1	P;B	0.35807	0.522;0.286	B;B	0.23852	0.049;0.021	T	0.06954	-1.0798	10	0.08837	T	0.75	-28.6421	19.5941	0.95527	0.0:1.0:0.0:0.0	.	210;210	P49005;F8W8R3	DPOD2_HUMAN;.	K	210;210;210;128;210	ENSP00000386105:E210K;ENSP00000223361:E210K;ENSP00000395231:E210K;ENSP00000416203:E128K	ENSP00000223361:E210K	E	-	1	0	POLD2	44123093	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	7.647000	0.83462	2.723000	0.93209	0.655000	0.94253	GAG		0.692	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2		NM_001127218		12	20	0	0	0	0.09319	0	12	20		
TYW1	55253	broad.mit.edu	37	7	66463173	66463173	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:66463173C>G	ENST00000359626.5	+	2	290	c.126C>G	c.(124-126)atC>atG	p.I42M	SBDS_ENST00000246868.2_5'Flank|TYW1_ENST00000491969.1_3'UTR	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	42					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGATTGTCATCAAGACGCAGG	0.318																																						uc003tvn.2		NaN																	0				skin(1)	1						c.(124-126)ATC>ATG		radical S-adenosyl methionine and flavodoxin							155.0	151.0	152.0					7																	66463173		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66463173C>G	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.126C>G	7.37:g.66463173C>G	ENSP00000352645:p.Ile42Met					SBDS_uc003tvm.1_5'Flank|TYW1_uc010lai.2_RNA	p.I42M	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			2	275	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	42					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.126C>G	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750535	0.31046	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	T	0.18338	2.22	4.08	2.24	0.28232	.	1.023590	0.07843	U	0.963398	T	0.16471	0.0396	L	0.58669	1.825	0.24938	N	0.991873	B	0.10296	0.003	B	0.06405	0.002	T	0.35549	-0.9784	10	0.44086	T	0.13	.	2.623	0.04922	0.192:0.5167:0.1865:0.1049	.	42	Q9NV66	TYW1_HUMAN	M	42	ENSP00000352645:I42M	ENSP00000352645:I42M	I	+	3	3	TYW1	66100608	0.254000	0.23992	0.997000	0.53966	0.776000	0.43924	0.431000	0.21444	0.372000	0.24591	-0.175000	0.13238	ATC		0.318	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2		NM_018264		39	118	0	0	0	0.092188	0	39	118		
BAZ1B	9031	broad.mit.edu	37	7	72892759	72892759	+	Silent	SNP	C	C	T	rs368184813		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:72892759C>T	ENST00000339594.4	-	7	1370	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	BAZ1B_ENST00000404251.1_Silent_p.K344K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	344	Lys-rich.|Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACTCAATGACTTCTTCAAGT	0.423																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(1030-1032)AAG>AAA		bromodomain adjacent to zinc finger domain, 1B		C		0,4406		0,0,2203	107.0	103.0	104.0		1032	-1.5	0.5	7		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAZ1B	NM_032408.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		344/1484	72892759	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72892759C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1032G>A	7.37:g.72892759C>T							p.K344K	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			7	1377	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	344			Mediates the tyrosine-protein kinase activity.|Lys-rich.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.1032G>A	CCDS5549.1																																																																																				0.423	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4		NM_032408		30	78	0	0	0	0.059317	0	30	78		
SEMA3C	10512	broad.mit.edu	37	7	80418743	80418743	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:80418743G>C	ENST00000265361.3	-	12	1794	c.1233C>G	c.(1231-1233)atC>atG	p.I411M	SEMA3C_ENST00000544525.1_Missense_Mutation_p.I429M|SEMA3C_ENST00000419255.2_Missense_Mutation_p.I411M	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	411	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGATTGGGTAGATGGAATTGT	0.453																																						uc003uhj.2		NaN																	0				ovary(1)	1						c.(1231-1233)ATC>ATG		semaphorin 3C precursor							177.0	160.0	166.0					7																	80418743		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80418743G>C	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1233C>G	7.37:g.80418743G>C	ENSP00000265361:p.Ile411Met					SEMA3C_uc011kgw.1_Missense_Mutation_p.I429M	p.I411M	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			12	1795	-			411			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1233C>G	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056310	0.76074	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.11495	2.77;2.77;2.77	5.94	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.243735	0.47455	D	0.000235	T	0.25827	0.0629	M	0.80616	2.505	0.80722	D	1	P;P	0.40731	0.682;0.728	P;P	0.53988	0.622;0.739	T	0.00688	-1.1609	10	0.87932	D	0	.	6.5403	0.22377	0.1862:0.0:0.6745:0.1393	.	429;411	F5H1Z7;Q99985	.;SEM3C_HUMAN	M	411;411;429	ENSP00000265361:I411M;ENSP00000411193:I411M;ENSP00000445649:I429M	ENSP00000265361:I411M	I	-	3	3	SEMA3C	80256679	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.119000	0.41958	0.633000	0.30452	0.557000	0.71058	ATC		0.453	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1		NM_006379		47	56	0	0	0	0.139131	0	47	56		
BAIAP2L1	55971	broad.mit.edu	37	7	97944889	97944889	+	Silent	SNP	G	G	T	rs372931404		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:97944889G>T	ENST00000005260.8	-	7	737	c.522C>A	c.(520-522)atC>atA	p.I174I	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	174	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGAATTTCTGGATTTCACTCT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		10486	0.001		0.0	False		,,,				2504	0.0					uc003upj.2		NaN																	0				ovary(1)	1						c.(520-522)ATC>ATA		BAI1-associated protein 2-like 1							98.0	97.0	98.0					7																	97944889		2203	4300	6503	SO:0001819	synonymous_variant	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97944889G>T	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.522C>A	7.37:g.97944889G>T							p.I174I	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	785	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		174			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	c.522C>A	CCDS34687.1																																																																																				0.383	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1		NM_018842		35	119	1	0	2.20262e-25	0.054565	2.40875e-25	35	119		
SMURF1	57154	broad.mit.edu	37	7	98645380	98645380	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:98645380C>A	ENST00000361125.1	-	11	1476	c.1157G>T	c.(1156-1158)aGa>aTa	p.R386I	SMURF1_ENST00000361368.2_Missense_Mutation_p.R360I|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	386					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTTCGTGTCTGAGGACTTT	0.562																																						uc003upu.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(1156-1158)AGA>ATA		Smad ubiquitination regulatory factor 1 isoform							139.0	134.0	136.0					7																	98645380		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98645380C>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1157G>T	7.37:g.98645380C>A	ENSP00000354621:p.Arg386Ile					SMURF1_uc003upv.1_Missense_Mutation_p.R360I|SMURF1_uc003upt.2_Missense_Mutation_p.R360I	p.R386I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		11	1477	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		386					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1157G>T	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325205	0.95708	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.39997	1.05;1.05	5.44	5.44	0.79542	HECT (1);	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.988;0.977	T	0.82198	-0.0576	10	0.87932	D	0	.	19.2699	0.94004	0.0:1.0:0.0:0.0	.	360;386;360	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	I	360;386	ENSP00000355326:R360I;ENSP00000354621:R386I	ENSP00000354621:R386I	R	-	2	0	SMURF1	98483316	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	7.814000	0.86154	2.527000	0.85204	0.563000	0.77884	AGA		0.562	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2		NM_020429		70	264	1	0	1.77791e-30	0.139131	1.96002e-30	70	264		
SMURF1	57154	broad.mit.edu	37	7	98645441	98645441	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:98645441C>A	ENST00000361125.1	-	11	1415	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y	SMURF1_ENST00000361368.2_Missense_Mutation_p.D340Y|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	366					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			AGCTCCTCGTCCTCCAGAGAG	0.562																																						uc003upu.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(1096-1098)GAC>TAC		Smad ubiquitination regulatory factor 1 isoform							129.0	133.0	131.0					7																	98645441		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98645441C>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1096G>T	7.37:g.98645441C>A	ENSP00000354621:p.Asp366Tyr					SMURF1_uc003upv.1_Missense_Mutation_p.D340Y|SMURF1_uc003upt.2_Missense_Mutation_p.D340Y	p.D366Y	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		11	1416	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		366					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1096G>T	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246925	0.80024	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.45668	1.21;0.89	5.44	5.44	0.79542	.	0.264945	0.42294	D	0.000736	T	0.38401	0.1039	N	0.14661	0.345	0.51767	D	0.999934	P;P;B	0.39576	0.531;0.679;0.158	B;P;B	0.44990	0.269;0.466;0.089	T	0.41106	-0.9527	10	0.72032	D	0.01	.	19.2699	0.94004	0.0:1.0:0.0:0.0	.	340;366;340	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	Y	340;366	ENSP00000355326:D340Y;ENSP00000354621:D366Y	ENSP00000354621:D366Y	D	-	1	0	SMURF1	98483377	1.000000	0.71417	0.913000	0.36048	0.700000	0.40528	7.814000	0.86154	2.527000	0.85204	0.563000	0.77884	GAC		0.562	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2		NM_020429		69	290	1	0	1.52378e-38	0.139131	1.69355e-38	69	290		
ZKSCAN1	7586	broad.mit.edu	37	7	99621898	99621898	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:99621898C>T	ENST00000324306.6	+	3	782	c.548C>T	c.(547-549)tCg>tTg	p.S183L	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S147L	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCAAACATTCGTCTCGGAAA	0.532																																						uc003usk.1		NaN																	0				ovary(3)	3						c.(547-549)TCG>TTG		zinc finger protein 36							82.0	71.0	75.0					7																	99621898		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621898C>T	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.548C>T	7.37:g.99621898C>T	ENSP00000323148:p.Ser183Leu					ZKSCAN1_uc003usj.2_Missense_Mutation_p.S182L|ZKSCAN1_uc003usl.1_Missense_Mutation_p.S147L|ZKSCAN1_uc003usm.1_Intron	p.S183L	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		3	767	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		183					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.548C>T	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744767	0.49151	.	.	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.06933	3.29;3.24	4.51	3.54	0.40534	.	0.396385	0.18649	N	0.135061	T	0.03220	0.0094	N	0.08118	0	0.80722	D	1	P;B	0.34587	0.458;0.273	B;B	0.19391	0.025;0.017	T	0.50285	-0.8846	10	0.35671	T	0.21	.	6.6368	0.22887	0.0:0.8674:0.0:0.1326	.	183;147	P17029;E9PC66	ZKSC1_HUMAN;.	L	183;147	ENSP00000323148:S183L;ENSP00000409172:S147L	ENSP00000323148:S183L	S	+	2	0	ZKSCAN1	99459834	0.998000	0.40836	0.996000	0.52242	0.963000	0.63663	2.075000	0.41538	2.332000	0.79248	0.491000	0.48974	TCG		0.532	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2		NM_003439		17	57	0	0	0	0.038395	0	17	57		
ACHE	43	broad.mit.edu	37	7	100491073	100491073	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:100491073C>T	ENST00000412389.1	-	1	936	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	ACHE_ENST00000302913.4_Missense_Mutation_p.G261S|ACHE_ENST00000241069.5_Missense_Mutation_p.G261S|ACHE_ENST00000411582.1_Missense_Mutation_p.G261S|ACHE_ENST00000419336.2_Missense_Mutation_p.G261S|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000428317.1_Missense_Mutation_p.G261S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	261					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TTGGGGGCACCGCTCTGCAGC	0.726																																						uc003uxd.2		NaN																	0				skin(2)	2						c.(781-783)GGT>AGT		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						22.0	25.0	24.0					7																	100491073		2201	4297	6498	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491073C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.781G>A	7.37:g.100491073C>T	ENSP00000394976:p.Gly261Ser					ACHE_uc003uxe.2_Missense_Mutation_p.G261S|ACHE_uc003uxf.2_Missense_Mutation_p.G261S|ACHE_uc003uxg.2_Missense_Mutation_p.G261S|ACHE_uc003uxh.2_Missense_Mutation_p.G261S|ACHE_uc003uxi.2_Missense_Mutation_p.G261S|ACHE_uc003uxj.1_Missense_Mutation_p.G380S	p.G261S	NM_000665	NP_000656	P22303	ACES_HUMAN			1	937	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		261					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.781G>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599413	0.66332	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	4.95	4.95	0.65309	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.92215	0.7531	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93708	0.7021	10	0.87932	D	0	.	15.6562	0.77136	0.0:1.0:0.0:0.0	.	261;261;261;261	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	S	261	ENSP00000403474:G261S;ENSP00000241069:G261S;ENSP00000414858:G261S;ENSP00000303211:G261S;ENSP00000394976:G261S;ENSP00000397143:G261S;ENSP00000399725:G261S;ENSP00000404865:G261S	ENSP00000241069:G261S	G	-	1	0	ACHE	100329009	1.000000	0.71417	0.603000	0.28903	0.330000	0.28571	7.526000	0.81920	2.281000	0.76405	0.484000	0.47621	GGT		0.726	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1		NM_015831		14	51	0	0	0	0.105934	0	14	51		
GPR22	2845	broad.mit.edu	37	7	107114751	107114751	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:107114751G>T	ENST00000304402.4	+	3	1589	c.246G>T	c.(244-246)atG>atT	p.M82I	COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	82					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTATTACAATGAATCTTCATG	0.363																																						uc003vef.2		NaN																	0				ovary(2)	2						c.(244-246)ATG>ATT		G protein-coupled receptor 22							157.0	150.0	153.0					7																	107114751		2203	4299	6502	SO:0001583	missense	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107114751G>T	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.246G>T	7.37:g.107114751G>T	ENSP00000302676:p.Met82Ile					COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	p.M82I	NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	1592	+			82			Cytoplasmic (Potential).		O14554	Missense_Mutation	SNP	ENST00000304402.4	37	c.246G>T	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121406	0.37436	.	.	ENSG00000172209	ENST00000304402	T	0.70986	-0.53	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.077158	0.85682	N	0.000000	T	0.78566	0.4303	L	0.43152	1.355	0.58432	D	0.999999	P	0.49559	0.925	D	0.65140	0.932	T	0.73266	-0.4037	10	0.23891	T	0.37	-11.213	19.1863	0.93645	0.0:0.0:1.0:0.0	.	82	Q99680	GPR22_HUMAN	I	82	ENSP00000302676:M82I	ENSP00000302676:M82I	M	+	3	0	GPR22	106901987	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.600000	0.87896	0.650000	0.86243	ATG		0.363	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1				58	94	1	0	5.22555e-25	0.139131	5.69934e-25	58	94		
ST7	7982	broad.mit.edu	37	7	116869839	116869839	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:116869839C>G	ENST00000393446.2	+	14	1803	c.1500C>G	c.(1498-1500)ccC>ccG	p.P500P	ST7_ENST00000393443.1_Silent_p.P476P|ST7_ENST00000393451.3_Silent_p.P531P|ST7_ENST00000432298.1_Silent_p.P508P|ST7_ENST00000393444.3_Silent_p.P488P|ST7_ENST00000422922.1_Silent_p.P485P|ST7_ENST00000393447.4_Silent_p.P511P|ST7_ENST00000323984.3_Silent_p.P554P|ST7_ENST00000393449.1_Silent_p.P549P			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGTTTGCCCCCTTAAACTTTG	0.498																																						uc011knn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1366-1368)CTT>GTT		suppression of tumorigenicity 7 isoform b							286.0	277.0	280.0					7																	116869839		2203	4300	6503	SO:0001819	synonymous_variant	7982					integral to membrane	binding	g.chr7:116869839C>G	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1500C>G	7.37:g.116869839C>G						ST7_uc003vio.2_Silent_p.P531P|ST7_uc003viq.2_Silent_p.P508P|ST7_uc011knm.1_Silent_p.P511P|ST7_uc003vir.2_Silent_p.P474P	p.L456V	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1371	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1366C>G		.	.	.	.	.	.	.	.	.	.	C	17.27	3.348016	0.61183	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.36340	1.26;2.05	5.4	3.21	0.36854	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25363	-1.0134	8	0.87932	D	0	.	3.0198	0.06072	0.0:0.4373:0.2205:0.3423	.	456	C9JU30	.	V	454;456	ENSP00000402934:L454V;ENSP00000419516:L456V	ENSP00000402934:L454V	L	+	1	0	ST7	116657075	0.904000	0.30761	1.000000	0.80357	0.996000	0.88848	-0.038000	0.12144	1.407000	0.46875	0.563000	0.77884	CTT		0.498	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908		89	448	0	0	0	0.139131	0	89	448		
IMPDH1	3614	broad.mit.edu	37	7	128038653	128038653	+	Missense_Mutation	SNP	C	C	T	rs375104715		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:128038653C>T	ENST00000480861.1	-	7	696	c.619G>A	c.(619-621)Gtc>Atc	p.V207I	IMPDH1_ENST00000354269.5_Missense_Mutation_p.V287I|IMPDH1_ENST00000496200.1_Missense_Mutation_p.V187I|IMPDH1_ENST00000419067.2_Missense_Mutation_p.V264I|IMPDH1_ENST00000343214.4_Missense_Mutation_p.V187I|IMPDH1_ENST00000378717.4_Missense_Mutation_p.V228I|IMPDH1_ENST00000348127.6_Missense_Mutation_p.V261I|IMPDH1_ENST00000470772.1_Missense_Mutation_p.V211I|IMPDH1_ENST00000338791.6_Missense_Mutation_p.V297I	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CAATCATTGACGATAGGCAGC	0.542											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kol.1		NaN																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(634-636)GTC>ATC		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	71.0	73.0	72.0		889,859,634,619,559,790,781	5.3	1.0	7		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	IMPDH1	NM_000883.3,NM_001102605.1,NM_001142573.1,NM_001142574.1,NM_001142575.1,NM_001142576.1,NM_183243.2	29,29,29,29,29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	297/600,287/590,212/515,207/510,187/490,264/567,261/564	128038653	2,13004	2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128038653C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.619G>A	7.37:g.128038653C>T	ENSP00000420185:p.Val207Ile		OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_uc011kom.1_Missense_Mutation_p.V207I|IMPDH1_uc003vmt.2_Missense_Mutation_p.V187I|IMPDH1_uc003vmu.2_Missense_Mutation_p.V297I|IMPDH1_uc003vmw.2_Missense_Mutation_p.V287I|IMPDH1_uc011kon.1_Missense_Mutation_p.V264I|IMPDH1_uc003vmv.2_Missense_Mutation_p.V261I|IMPDH1_uc003vmx.2_Missense_Mutation_p.V220I|IMPDH1_uc003vmy.2_Missense_Mutation_p.V228I	p.V212I	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			7	740	-			212			CBS 2.			Missense_Mutation	SNP	ENST00000480861.1	37	c.634G>A	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057849	0.76074	2.27E-4	1.16E-4	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	T;T;T;T;T;T;T;T;T;D	0.95949	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-3.86	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	L	0.60067	1.865	0.80722	D	1	D;B;B;P;P;D;D;B	0.89917	1.0;0.364;0.364;0.875;0.875;0.97;0.976;0.314	D;B;B;B;P;B;P;B	0.91635	0.999;0.376;0.264;0.264;0.591;0.38;0.514;0.259	D	0.96970	0.9708	10	0.51188	T	0.08	-48.2201	16.4619	0.84059	0.0:1.0:0.0:0.0	.	264;207;212;228;287;261;297;187	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	I	264;297;187;287;228;261;187;211;207;228	ENSP00000399400:V264I;ENSP00000345096:V297I;ENSP00000420803:V187I;ENSP00000346219:V287I;ENSP00000367989:V228I;ENSP00000265385:V261I;ENSP00000342438:V187I;ENSP00000417296:V211I;ENSP00000420185:V207I;ENSP00000419609:V228I	ENSP00000345096:V297I	V	-	1	0	IMPDH1	127825889	1.000000	0.71417	0.995000	0.50966	0.462000	0.32619	7.759000	0.85235	2.489000	0.83994	0.655000	0.94253	GTC		0.542	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1		NM_000883		11	158	0	0	0	0.069234	0	11	158		
TMEM139	135932	broad.mit.edu	37	7	142983872	142983872	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:142983872C>T	ENST00000359333.3	+	3	1114	c.601C>T	c.(601-603)Cac>Tac	p.H201Y	CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000409244.1_Missense_Mutation_p.H201Y|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409541.1_Missense_Mutation_p.H201Y|TMEM139_ENST00000409102.1_Missense_Mutation_p.H201Y|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000410004.1_Missense_Mutation_p.H201Y	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	201						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CTGCTTTGGTCACCCTGATGA	0.522																																						uc010lov.2		NaN																	0					0						c.(601-603)CAC>TAC		transmembrane protein 139 precursor							148.0	137.0	141.0					7																	142983872		2203	4300	6503	SO:0001583	missense	135932					integral to membrane		g.chr7:142983872C>T	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.601C>T	7.37:g.142983872C>T	ENSP00000352284:p.His201Tyr					CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|CASP2_uc003wcq.2_5'Flank|TMEM139_uc003wck.3_Missense_Mutation_p.H201Y|TMEM139_uc003wcl.2_Missense_Mutation_p.H201Y|TMEM139_uc003wcm.2_Missense_Mutation_p.H201Y|TMEM139_uc003wcn.2_RNA	p.H201Y	NM_153345	NP_699176	Q8IV31	TM139_HUMAN			4	740	+	Melanoma(164;0.059)		201			Cytoplasmic (Potential).		B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	37	c.601C>T	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	C	4.824	0.153159	0.09185	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.01	0.702	0.18110	.	0.959537	0.08686	N	0.908731	T	0.25494	0.0620	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23190	-1.0195	9	0.33141	T	0.24	0.498	2.9548	0.05872	0.3186:0.4366:0.155:0.0898	.	201	Q8IV31	TM139_HUMAN	Y	201	.	ENSP00000352284:H201Y	H	+	1	0	TMEM139	142693994	0.000000	0.05858	0.001000	0.08648	0.587000	0.36485	-0.846000	0.04336	0.224000	0.20940	0.558000	0.71614	CAC		0.522	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1		NM_153345		70	67	0	0	0	0.139131	0	70	67		
FAM115A	9747	broad.mit.edu	37	7	143573631	143573631	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:143573631G>A	ENST00000479870.1	-	2	279	c.71C>T	c.(70-72)gCt>gTt	p.A24V	FAM115A_ENST00000355951.2_Missense_Mutation_p.A24V|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	24										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					ACATGGAACAGCATCTTCGGG	0.527																																						uc003wdo.1		NaN																	0					0						c.(70-72)GCT>GTT		hypothetical protein LOC9747							115.0	91.0	99.0					7																	143573631		2203	4300	6503	SO:0001583	missense	9747							g.chr7:143573631G>A	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.71C>T	7.37:g.143573631G>A	ENSP00000419235:p.Ala24Val					FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.A24V	p.A24V	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN			2	204	-	Melanoma(164;0.0903)		24					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	SNP	ENST00000479870.1	37	c.71C>T	CCDS5886.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136829	0.21123	.	.	ENSG00000198420	ENST00000479870;ENST00000355951;ENST00000460532;ENST00000491908;ENST00000478172;ENST00000485416	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.01	4.01	0.46588	.	0.727885	0.13140	N	0.410738	T	0.44912	0.1316	L	0.49126	1.545	0.09310	N	0.999998	B	0.16396	0.017	B	0.21360	0.034	T	0.33085	-0.9882	10	0.42905	T	0.14	-6.0782	14.4166	0.67155	0.0:0.0:1.0:0.0	.	24	Q9Y4C2	F115A_HUMAN	V	24	ENSP00000419235:A24V;ENSP00000348220:A24V;ENSP00000420607:A24V;ENSP00000417600:A24V;ENSP00000419622:A24V;ENSP00000418432:A24V	ENSP00000348220:A24V	A	-	2	0	FAM115A	143204564	0.207000	0.23482	0.702000	0.30337	0.503000	0.33858	3.166000	0.50785	2.526000	0.85167	0.585000	0.79938	GCT		0.527	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1		NM_014719		4	60	0	0	0	0.009096	0	4	60		
BLK	640	broad.mit.edu	37	8	11405588	11405588	+	Silent	SNP	C	C	A	rs149393791	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:11405588C>A	ENST00000259089.4	+	4	815	c.223C>A	c.(223-225)Cgg>Agg	p.R75R	BLK_ENST00000529894.1_Silent_p.R4R	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	75	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TATGAATGATCGGGACCTGCA	0.567																																						uc003wty.2		NaN																	0				large_intestine(1)|stomach(1)|ovary(1)	3						c.(223-225)CGG>AGG		B lymphoid tyrosine kinase							168.0	147.0	154.0					8																	11405588		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11405588C>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.223C>A	8.37:g.11405588C>A						BLK_uc003wtz.2_Silent_p.R4R	p.R75R	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	4	804	+			75			SH3.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.223C>A	CCDS5982.1																																																																																				0.567	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1				21	33	1	0	5.26018e-13	0.062417	5.63197e-13	21	33		
WRN	7486	broad.mit.edu	37	8	30933803	30933803	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:30933803G>A	ENST00000298139.5	+	8	1088	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	280					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AACCCACGGAGGTTAAATATT	0.328			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NaN	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			0				ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(838-840)AGG>AAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							54.0	55.0	55.0					8																	30933803		2203	4300	6503	SO:0001630	splice_region_variant	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30933803G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.839+1G>A	8.37:g.30933803G>A							p.R280K	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	8	1627	+		Breast(100;0.195)	280					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.839G>A	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899713	0.72754	.	.	ENSG00000165392	ENST00000298139	T	0.49139	0.79	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	M	0.72894	2.215	0.39766	D	0.972092	D	0.89917	1.0	D	0.83275	0.996	T	0.71144	-0.4678	10	0.52906	T	0.07	-17.7532	15.9378	0.79729	0.0:0.0:1.0:0.0	.	280	Q14191	WRN_HUMAN	K	280	ENSP00000298139:R280K	ENSP00000298139:R280K	R	+	2	0	WRN	31053345	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.890000	0.69774	2.434000	0.82447	0.563000	0.77884	AGG		0.328	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			Missense_Mutation	28	30	0	0	0	0.099896	0	28	30		
KCNU1	157855	broad.mit.edu	37	8	36644853	36644853	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:36644853G>A	ENST00000399881.3	+	2	262	c.225G>A	c.(223-225)agG>agA	p.R75R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	75					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCATCGCTAGGAGCCATGTAA	0.428																																						uc010lvw.2		NaN																	0				ovary(1)	1						c.(223-225)AGG>AGA		potassium channel, subfamily U, member 1							86.0	83.0	84.0					8																	36644853		1927	4117	6044	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36644853G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.225G>A	8.37:g.36644853G>A						KCNU1_uc003xjw.2_RNA	p.R75R	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	2	312	+			75			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.225G>A	CCDS55220.1																																																																																				0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		8	17	0	0	0	0.038147	0	8	17		
TACC1	6867	broad.mit.edu	37	8	38677879	38677879	+	Nonsense_Mutation	SNP	C	C	T	rs149014810		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:38677879C>T	ENST00000317827.4	+	3	1496	c.1117C>T	c.(1117-1119)Cga>Tga	p.R373*	TACC1_ENST00000522752.1_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R389*|TACC1_ENST00000520340.1_Nonsense_Mutation_p.R337*|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520615.1_Nonsense_Mutation_p.R178*|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R328*|TACC1_ENST00000520973.1_Nonsense_Mutation_p.R178*|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000379931.3_Nonsense_Mutation_p.R373*|TACC1_ENST00000519416.1_Nonsense_Mutation_p.R178*	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	373	Interaction with YEATS4.|SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCCAGTGGCACGAGACGGGCC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17846	0.0		0.0	False		,,,				2504	0.0					uc010lwp.2		NaN																	0				ovary(1)	1						c.(1117-1119)CGA>TGA		transforming, acidic coiled-coil containing							133.0	137.0	136.0					8																	38677879		2203	4300	6503	SO:0001587	stop_gained	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677879C>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1117C>T	8.37:g.38677879C>T	ENSP00000321703:p.Arg373*					TACC1_uc011lby.1_Nonsense_Mutation_p.R178*|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Nonsense_Mutation_p.R178*|TACC1_uc003xmc.3_Nonsense_Mutation_p.R178*|TACC1_uc011lbz.1_Nonsense_Mutation_p.R389*|TACC1_uc003xmb.3_Nonsense_Mutation_p.R328*|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Nonsense_Mutation_p.R373*|TACC1_uc011lcb.1_Nonsense_Mutation_p.R178*|TACC1_uc011lcc.1_Nonsense_Mutation_p.R178*|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Nonsense_Mutation_p.R178*|TACC1_uc010lwq.2_Nonsense_Mutation_p.R178*	p.R373*	NM_006283	NP_006274	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	1496	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	373			Interaction with YEATS4.|SPAZ 2.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Nonsense_Mutation	SNP	ENST00000317827.4	37	c.1117C>T	CCDS6109.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	42	9.564104	0.99205	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973	.	.	.	4.9	-0.658	0.11428	.	1.657700	0.03347	N	0.195628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	9.5823	6.8128	0.23814	0.1244:0.2967:0.5789:0.0	.	.	.	.	X	178;178;178;389;328;345;373;373;178	.	ENSP00000321703:R373X	R	+	1	2	TACC1	38797036	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.064000	0.11636	-0.535000	0.06307	-0.457000	0.05445	CGA		0.527	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1		NM_006283		32	205	0	0	0	0.050027	0	32	205		
PRKDC	5591	broad.mit.edu	37	8	48740729	48740729	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:48740729C>T	ENST00000314191.2	-	63	8630	c.8574G>A	c.(8572-8574)caG>caA	p.Q2858Q	PRKDC_ENST00000338368.3_Splice_Site_p.Q2858Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2859	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGACTTTACCTGAATACAAG	0.383								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(8575-8577)CAG>CAA	NHEJ	protein kinase, DNA-activated, catalytic							100.0	93.0	95.0					8																	48740729		1902	4132	6034	SO:0001630	splice_region_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48740729C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8574+1G>A	8.37:g.48740729C>T						PRKDC_uc003xqj.2_Silent_p.Q2859Q|PRKDC_uc011ldh.1_Intron	p.Q2859Q	NM_006904	NP_008835	P78527	PRKDC_HUMAN			63	8634	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2859			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.8577G>A																																																																																					0.383	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640	Silent	16	11	0	0	0	0.132662	0	16	11		
EFCAB1	79645	broad.mit.edu	37	8	49637345	49637345	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:49637345C>T	ENST00000262103.3	-	6	672	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	EFCAB1_ENST00000523092.1_Missense_Mutation_p.E146K|EFCAB1_ENST00000433756.1_Missense_Mutation_p.E146K|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	198							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				ACTTGAGCTTCAAATTCCATC	0.313																																						uc003xqo.2		NaN																	0					0						c.(592-594)GAA>AAA		EF-hand calcium binding domain 1 isoform a							79.0	75.0	77.0					8																	49637345		2200	4297	6497	SO:0001583	missense	79645						calcium ion binding	g.chr8:49637345C>T		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.592G>A	8.37:g.49637345C>T	ENSP00000262103:p.Glu198Lys					EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.E146K|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	p.E198K	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN			6	752	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	198					B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.592G>A	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223833	0.58668	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.70869	-0.52;-0.44;-0.52	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	L	0.42245	1.32	0.54753	D	0.999988	B;B	0.22909	0.065;0.077	B;B	0.27887	0.046;0.084	T	0.59516	-0.7440	10	0.29301	T	0.29	.	14.8449	0.70254	0.0:1.0:0.0:0.0	.	146;198	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	K	146;198;198;146	ENSP00000400873:E146K;ENSP00000262103:E198K;ENSP00000430765:E146K	ENSP00000262103:E198K	E	-	1	0	EFCAB1	49799898	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.468000	0.60162	2.578000	0.87016	0.561000	0.74099	GAA		0.313	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1		NM_024593		24	14	0	0	0	0.083992	0	24	14		
NSMAF	8439	broad.mit.edu	37	8	59506850	59506850	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:59506850C>G	ENST00000038176.3	-	23	2105		c.e23-1		NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AGTAACTGCTCTGCTCAAAAA	0.388																																						uc003xtt.2		NaN																	0				ovary(1)	1						c.e23-1		neutral sphingomyelinase (N-SMase) activation							115.0	111.0	112.0					8																	59506850		2203	4300	6503	SO:0001630	splice_region_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59506850C>G	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1893-1G>C	8.37:g.59506850C>G						NSMAF_uc011lee.1_Splice_Site_p.E662_splice	p.E631_splice	NM_003580	NP_003571	Q92636	FAN_HUMAN			23	2107	-		all_lung(136;0.174)|Lung NSC(129;0.2)						B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	ENST00000038176.3	37	c.1893_splice	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818167	0.32145	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5478	0.95307	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59669404	1.000000	0.71417	0.998000	0.56505	0.137000	0.21094	6.663000	0.74431	2.868000	0.98415	0.555000	0.69702	.		0.388	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1		NM_003580	Intron	4	43	0	0	0	0.009096	0	4	43		
C8orf34	116328	broad.mit.edu	37	8	69358639	69358639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:69358639C>G	ENST00000539993.1	+	3	842	c.293C>G	c.(292-294)tCa>tGa	p.S98*	C8orf34_ENST00000518698.1_Nonsense_Mutation_p.S184*|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000337103.4_Nonsense_Mutation_p.S73*|C8orf34_ENST00000348340.2_Nonsense_Mutation_p.S98*|C8orf34_ENST00000523686.1_Nonsense_Mutation_p.S98*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	98										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTAAAAAATCAAAAAGTGAC	0.328																																						uc010lyz.2		NaN																	0				large_intestine(1)	1						c.(292-294)TCA>TGA		hypothetical protein LOC116328							117.0	117.0	117.0					8																	69358639		2203	4300	6503	SO:0001587	stop_gained	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69358639C>G	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.293C>G	8.37:g.69358639C>G	ENSP00000438159:p.Ser98*					C8orf34_uc010lyx.1_Nonsense_Mutation_p.S98*|C8orf34_uc010lyy.1_Nonsense_Mutation_p.S98*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.S73*	p.S98*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		3	342	+			98					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	ENST00000539993.1	37	c.293C>G		.	.	.	.	.	.	.	.	.	.	C	42	9.735646	0.99251	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.1063	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	184;98;98;98;73	.	.	S	+	2	0	C8orf34	69521193	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.387000	0.79785	2.865000	0.98341	0.655000	0.94253	TCA		0.328	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_052958		6	77	0	0	0	0.02938	0	6	77		
ZFHX4	79776	broad.mit.edu	37	8	77764196	77764196	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:77764196C>G	ENST00000521891.2	+	10	5487	c.5039C>G	c.(5038-5040)tCt>tGt	p.S1680C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1654C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1635C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1635C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1635	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATTTAATCTCTGCTCAACCT	0.418										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4903-4905)TCT>TGT		zinc finger homeodomain 4							99.0	99.0	99.0					8																	77764196		2011	4192	6203	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764196C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5039C>G	8.37:g.77764196C>G	ENSP00000430497:p.Ser1680Cys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S1680C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1635C	p.S1635C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5291	+			1635					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4904C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	7.641	0.680907	0.14907	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52983	0.64;0.7;0.68;0.66	4.14	4.14	0.48551	.	0.159277	0.29466	U	0.012071	T	0.50034	0.1592	L	0.58101	1.795	0.44807	D	0.997816	B;P;P	0.35872	0.39;0.525;0.525	B;B;B	0.39562	0.159;0.303;0.303	T	0.58730	-0.7585	10	0.62326	D	0.03	.	16.9561	0.86260	0.0:1.0:0.0:0.0	.	1635;1635;1680	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	1680;1680;1635;1635;1654	ENSP00000430497:S1680C;ENSP00000399605:S1635C;ENSP00000050961:S1635C;ENSP00000430848:S1654C	ENSP00000050961:S1635C	S	+	2	0	ZFHX4	77926751	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	5.517000	0.67061	2.305000	0.77605	0.542000	0.68232	TCT		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		54	31	0	0	0	0.139131	0	54	31		
FBXO43	286151	broad.mit.edu	37	8	101154324	101154324	+	Missense_Mutation	SNP	G	G	A	rs186181742		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:101154324G>A	ENST00000428847.2	-	2	474	c.158C>T	c.(157-159)tCt>tTt	p.S53F		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	53					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AATTGGAGGAGAGTCCGCCCC	0.423																																						uc003yjd.2		NaN																	0				kidney(1)|skin(1)	2						c.(157-159)TCT>TTT		F-box protein 43 isoform b							74.0	77.0	76.0					8																	101154324		1982	4167	6149	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101154324G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.158C>T	8.37:g.101154324G>A	ENSP00000403293:p.Ser53Phe					FBXO43_uc003yje.2_Missense_Mutation_p.S19F|FBXO43_uc010mbp.1_Missense_Mutation_p.S53F	p.S53F	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	871	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		53						Missense_Mutation	SNP	ENST00000428847.2	37	c.158C>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	7.152	0.583904	0.13749	.	.	ENSG00000156509	ENST00000428847	T	0.39997	1.05	5.26	2.41	0.29592	.	1.694500	0.03566	U	0.227832	T	0.44350	0.1289	L	0.59436	1.845	0.22127	N	0.999345	B;B	0.12013	0.005;0.005	B;B	0.15052	0.012;0.007	T	0.39333	-0.9619	10	0.87932	D	0	-11.4929	9.0625	0.36442	0.0746:0.2801:0.6453:0.0	.	19;53	C9J908;Q4G163	.;FBX43_HUMAN	F	53	ENSP00000403293:S53F	ENSP00000403293:S53F	S	-	2	0	FBXO43	101223500	0.440000	0.25618	0.221000	0.23827	0.073000	0.16967	0.799000	0.27028	0.276000	0.22118	-0.257000	0.10917	TCT		0.423	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1		XM_209918		95	39	0	0	0	0.139131	0	95	39		
TAF2	6873	broad.mit.edu	37	8	120770342	120770342	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:120770342C>T	ENST00000378164.2	-	21	3037	c.2739G>A	c.(2737-2739)atG>atA	p.M913I	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	913					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATTCTGAATCATATTAAGTA	0.284																																						uc003you.2		NaN																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(2737-2739)ATG>ATA		TBP-associated factor 2							158.0	160.0	159.0					8																	120770342		2203	4299	6502	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120770342C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2739G>A	8.37:g.120770342C>T	ENSP00000367406:p.Met913Ile						p.M913I	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		21	3009	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		913					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2739G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446429	0.63178	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.40756	1.02;1.02	5.66	5.66	0.87406	Armadillo-type fold (1);	0.127189	0.64402	D	0.000001	T	0.20414	0.0491	N	0.01219	-0.95	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13602	-1.0503	10	0.23891	T	0.37	-0.005	19.7496	0.96261	0.0:1.0:0.0:0.0	.	913	Q6P1X5	TAF2_HUMAN	I	913;37	ENSP00000367406:M913I;ENSP00000436750:M37I	ENSP00000367406:M913I	M	-	3	0	TAF2	120839523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.659000	0.68010	2.655000	0.90218	0.650000	0.86243	ATG		0.284	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1		NM_003184		17	155	0	0	0	0.043863	0	17	155		
ATAD2	29028	broad.mit.edu	37	8	124371897	124371897	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:124371897C>T	ENST00000287394.5	-	10	1293	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	396					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)			CCTTTTAATTCATCTTTCCGA	0.358																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(1186-1188)GAA>AAA		ATPase family, AAA domain containing 2							83.0	75.0	78.0					8																	124371897		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124371897C>T	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.1186G>A	8.37:g.124371897C>T	ENSP00000287394:p.Glu396Lys					ATAD2_uc011lii.1_Missense_Mutation_p.E187K|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E396K	p.E396K	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		10	1294	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		396					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1186G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592995	0.86953	.	.	ENSG00000156802	ENST00000287394	D	0.92099	-2.97	5.18	5.18	0.71444	.	0.386473	0.19197	U	0.120285	D	0.89808	0.6822	N	0.25890	0.77	0.80722	D	1	P;P	0.39940	0.696;0.57	P;B	0.44673	0.457;0.269	D	0.88981	0.3408	10	0.36615	T	0.2	-22.5099	18.6827	0.91553	0.0:1.0:0.0:0.0	.	226;396	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	K	396	ENSP00000287394:E396K	ENSP00000287394:E396K	E	-	1	0	ATAD2	124441078	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.001000	0.70685	2.409000	0.81822	0.491000	0.48974	GAA		0.358	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		6	67	0	0	0	0.021553	0	6	67		
FAM135B	51059	broad.mit.edu	37	8	139380157	139380157	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:139380157G>C	ENST00000395297.1	-	2	240	c.70C>G	c.(70-72)Cag>Gag	p.Q24E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	24										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACCCTCTCTGAAAGAGATCC	0.393										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(70-72)CAG>GAG		hypothetical protein LOC51059							126.0	120.0	121.0					8																	139380157		1866	4112	5978	SO:0001583	missense	51059							g.chr8:139380157G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.70C>G	8.37:g.139380157G>C	ENSP00000378710:p.Gln24Glu	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.Q24E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	241	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		24					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.70C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059630	0.76074	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.18338	2.22	5.54	5.54	0.83059	.	0.000000	0.52532	U	0.000072	T	0.28067	0.0692	M	0.72894	2.215	0.52501	D	0.999958	P	0.52316	0.952	P	0.44518	0.452	T	0.05178	-1.0901	10	0.87932	D	0	-10.6121	18.3941	0.90493	0.0:0.0:1.0:0.0	.	24	Q49AJ0	F135B_HUMAN	E	24	ENSP00000378710:Q24E	ENSP00000160713:Q24E	Q	-	1	0	FAM135B	139449339	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.084000	0.94076	2.768000	0.95171	0.561000	0.74099	CAG		0.393	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		57	34	0	0	0	0.139131	0	57	34		
MAPK15	225689	broad.mit.edu	37	8	144803252	144803252	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:144803252G>C	ENST00000338033.4	+	10	1119	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	334					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCTGTGCCTGAGTACCGCAG	0.652																																						uc003yzj.2		NaN																	0				lung(2)	2						c.(1000-1002)GAG>CAG		mitogen-activated protein kinase 15							18.0	25.0	23.0					8																	144803252		2060	4198	6258	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144803252G>C	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1000G>C	8.37:g.144803252G>C	ENSP00000337691:p.Glu334Gln						p.E334Q	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		10	1041	+	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)		334					Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.1000G>C	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	13.39	2.222264	0.39300	.	.	ENSG00000181085	ENST00000338033	T	0.74421	-0.84	3.8	3.8	0.43715	.	0.063203	0.64402	D	0.000007	T	0.70360	0.3215	L	0.36672	1.1	0.80722	D	1	P	0.47545	0.897	P	0.47941	0.562	T	0.71583	-0.4549	10	0.39692	T	0.17	-14.8469	14.3781	0.66892	0.0:0.0:1.0:0.0	.	334	Q8TD08	MK15_HUMAN	Q	334	ENSP00000337691:E334Q	ENSP00000337691:E334Q	E	+	1	0	MAPK15	144875240	1.000000	0.71417	0.487000	0.27428	0.048000	0.14542	3.967000	0.56802	1.941000	0.56285	0.467000	0.42956	GAG		0.652	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1		NM_139021		4	27	0	0	0	0.014758	0	4	27		
MPDZ	8777	broad.mit.edu	37	9	13119644	13119644	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:13119644C>T	ENST00000319217.7	-	39	5483	c.5236G>A	c.(5236-5238)Gat>Aat	p.D1746N	MPDZ_ENST00000536827.1_Missense_Mutation_p.D1713N|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1746N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1760N|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1746N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1713N|MPDZ_ENST00000538841.1_Missense_Mutation_p.D605N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1746N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1746	PDZ 11. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTCCAGTATCGTTTCTACAC	0.348																																						uc010mia.1		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(5236-5238)GAT>AAT		multiple PDZ domain protein							93.0	92.0	92.0					9																	13119644		1907	4121	6028	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13119644C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5236G>A	9.37:g.13119644C>T	ENSP00000320006:p.Asp1746Asn					MPDZ_uc003zkx.3_Missense_Mutation_p.D11N|MPDZ_uc003zky.3_Missense_Mutation_p.D280N|MPDZ_uc010mib.2_Missense_Mutation_p.D451N|MPDZ_uc010mhx.2_Missense_Mutation_p.D568N|MPDZ_uc011lmm.1_Missense_Mutation_p.D605N|MPDZ_uc003zkz.3_Missense_Mutation_p.D439N|MPDZ_uc010mhy.2_Missense_Mutation_p.D1746N|MPDZ_uc010mhz.2_Missense_Mutation_p.D1713N|MPDZ_uc011lmn.1_Missense_Mutation_p.D1713N|MPDZ_uc003zlb.3_Missense_Mutation_p.D1746N	p.D1746N	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	38	5293	-			1746			PDZ 11.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5236G>A		.	.	.	.	.	.	.	.	.	.	C	25.5	4.640343	0.87859	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.89	5.89	0.94794	PDZ/DHR/GLGF (4);	0.000000	0.48286	D	0.000184	T	0.39759	0.1090	N	0.25286	0.73	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.987;0.998;1.0;1.0;1.0;0.998;0.998	D;P;D;D;D;D;D;D	0.83275	0.978;0.804;0.934;0.963;0.996;0.963;0.934;0.934	T	0.06991	-1.0796	10	0.30854	T	0.27	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	1713;605;451;1713;1626;1746;1746;439	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	N	1746;1746;1746;287;682;605;1713;1713;1746;1626;1760	ENSP00000320006:D1746N;ENSP00000439807:D1746N;ENSP00000370410:D1746N;ENSP00000415964:D287N;ENSP00000444230:D682N;ENSP00000444717:D605N;ENSP00000444151:D1713N;ENSP00000415208:D1713N;ENSP00000370403:D1746N;ENSP00000446358:D1760N	ENSP00000320006:D1746N	D	-	1	0	MPDZ	13109644	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.760000	0.85248	2.788000	0.95919	0.557000	0.71058	GAT		0.348	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		9	58	0	0	0	0.047766	0	9	58		
PIGO	84720	broad.mit.edu	37	9	35094274	35094274	+	Silent	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:35094274G>T	ENST00000378617.3	-	3	988	c.594C>A	c.(592-594)tcC>tcA	p.S198S	RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000298004.5_Silent_p.S198S|PIGO_ENST00000361778.2_Silent_p.S198S|PIGO_ENST00000341666.3_Silent_p.S198S|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	198					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGACATTGAAGGATGGGAAGA	0.502																																						uc003zwd.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(592-594)TCC>TCA		phosphatidylinositol glycan anchor biosynthesis,							135.0	112.0	120.0					9																	35094274		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35094274G>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.594C>A	9.37:g.35094274G>T						PIGO_uc003zwc.1_Silent_p.S198S|PIGO_uc003zwe.2_Silent_p.S198S|PIGO_uc003zwf.2_Silent_p.S198S|PIGO_uc003zwg.1_5'UTR	p.S198S	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	990	-			198					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.594C>A	CCDS6575.1																																																																																				0.502	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1		NM_032634		12	32	1	0	6.44725e-10	0.069288	6.81376e-10	12	32		
PIGO	84720	broad.mit.edu	37	9	35094283	35094283	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:35094283G>T	ENST00000378617.3	-	3	979	c.585C>A	c.(583-585)ttC>ttA	p.F195L	RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000298004.5_Missense_Mutation_p.F195L|PIGO_ENST00000361778.2_Missense_Mutation_p.F195L|PIGO_ENST00000341666.3_Missense_Mutation_p.F195L|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	195					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGATGGGAAGAAGAAAGCTT	0.498																																						uc003zwd.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(583-585)TTC>TTA		phosphatidylinositol glycan anchor biosynthesis,							133.0	112.0	119.0					9																	35094283		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35094283G>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.585C>A	9.37:g.35094283G>T	ENSP00000367880:p.Phe195Leu					PIGO_uc003zwc.1_Missense_Mutation_p.F195L|PIGO_uc003zwe.2_Missense_Mutation_p.F195L|PIGO_uc003zwf.2_Missense_Mutation_p.F195L|PIGO_uc003zwg.1_5'UTR	p.F195L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	981	-			195					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.585C>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260414	0.59431	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.84	4.02	0.46733	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.110188	0.64402	D	0.000005	T	0.30634	0.0771	L	0.43152	1.355	0.45295	D	0.998293	D;P	0.60575	0.988;0.623	P;P	0.56216	0.794;0.498	T	0.04767	-1.0928	10	0.11794	T	0.64	-11.0425	10.7952	0.46455	0.2526:0.0:0.7474:0.0	.	195;195	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	L	195	ENSP00000298004:F195L;ENSP00000367880:F195L;ENSP00000339382:F195L;ENSP00000354678:F195L	ENSP00000298004:F195L	F	-	3	2	PIGO	35084283	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.881000	0.39638	0.840000	0.34995	0.655000	0.94253	TTC		0.498	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1		NM_032634		10	30	1	0	4.35082e-09	0.055883	4.56278e-09	10	30		
PIGO	84720	broad.mit.edu	37	9	35094310	35094310	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:35094310G>A	ENST00000378617.3	-	3	952	c.558C>T	c.(556-558)ttC>ttT	p.F186F	RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000298004.5_Silent_p.F186F|PIGO_ENST00000361778.2_Silent_p.F186F|PIGO_ENST00000341666.3_Silent_p.F186F|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	186					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGCACCAGGGAAAAGGTCTT	0.502																																						uc003zwd.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(556-558)TTC>TTT		phosphatidylinositol glycan anchor biosynthesis,							126.0	107.0	113.0					9																	35094310		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35094310G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.558C>T	9.37:g.35094310G>A						PIGO_uc003zwc.1_Silent_p.F186F|PIGO_uc003zwe.2_Silent_p.F186F|PIGO_uc003zwf.2_Silent_p.F186F|PIGO_uc003zwg.1_5'UTR	p.F186F	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	954	-			186					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.558C>T	CCDS6575.1																																																																																				0.502	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1		NM_032634		20	31	0	0	0	0.144211	0	20	31		
TLN1	7094	broad.mit.edu	37	9	35735135	35735135	+	5'Flank	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:35735135G>C	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Silent_p.R155R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACGTGTGCGGAGGAAGATTC	0.443																																						uc003zxv.2		NaN																	0					0						c.(463-465)CGG>CGC		cAMP responsive element binding protein 3							90.0	94.0	93.0					9																	35735135		2203	4300	6503	SO:0001631	upstream_gene_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr9:35735135G>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35735135G>C	Exception_encountered					TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.3_5'Flank|CREB3_uc010mla.2_Silent_p.R74R	p.R155R	NM_006368	NP_006359	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	5	918	+	all_epithelial(49;0.167)		179			Cytoplasmic (Potential).|Basic motif.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.465G>C	CCDS35009.1																																																																																				0.443	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2		NM_006289		30	28	0	0	0	0.134883	0	30	28		
RASEF	158158	broad.mit.edu	37	9	85613323	85613323	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:85613323C>G	ENST00000376447.3	-	13	2022	c.1762G>C	c.(1762-1764)Gaa>Caa	p.E588Q		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	588					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACTGTTCGTTCTCCATCCACA	0.453																																						uc004amo.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1762-1764)GAA>CAA		RAS and EF-hand domain containing							185.0	173.0	177.0					9																	85613323		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85613323C>G	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1762G>C	9.37:g.85613323C>G	ENSP00000365630:p.Glu588Gln						p.E588Q	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			13	2023	-			588					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1762G>C	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214473	0.58452	.	.	ENSG00000165105	ENST00000376447	T	0.77229	-1.08	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.169199	0.50627	D	0.000116	T	0.53706	0.1813	N	0.02539	-0.55	0.80722	D	1	P	0.40681	0.727	B	0.31101	0.124	T	0.64748	-0.6334	10	0.45353	T	0.12	.	18.3296	0.90264	0.0:1.0:0.0:0.0	.	588	Q8IZ41	RASEF_HUMAN	Q	588	ENSP00000365630:E588Q	ENSP00000365630:E588Q	E	-	1	0	RASEF	84803143	1.000000	0.71417	0.993000	0.49108	0.724000	0.41520	5.948000	0.70249	2.614000	0.88457	0.655000	0.94253	GAA		0.453	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1		NM_152573		179	84	0	0	0	0.139131	0	179	84		
FOXE1	2304	broad.mit.edu	37	9	100617151	100617151	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:100617151G>C	ENST00000375123.3	+	1	1616	c.955G>C	c.(955-957)Gag>Cag	p.E319Q		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	319					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				TGGCGGCGTGGAGACCACGGT	0.751																																						uc004axu.2		NaN																	0					0						c.(955-957)GAG>CAG		forkhead box E1							3.0	5.0	4.0					9																	100617151		1800	3723	5523	SO:0001583	missense	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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.chr9:100617151G>C	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.955G>C	9.37:g.100617151G>C	ENSP00000364265:p.Glu319Gln						p.E319Q	NM_004473	NP_004464	O00358	FOXE1_HUMAN			1	1615	+		Acute lymphoblastic leukemia(62;0.158)	319					O75765|Q5T109|Q99526	Missense_Mutation	SNP	ENST00000375123.3	37	c.955G>C	CCDS35078.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245143	0.39697	.	.	ENSG00000178919	ENST00000375123	D	0.93547	-3.24	4.04	4.04	0.47022	.	18.391800	0.00166	U	0.000014	D	0.94149	0.8123	L	0.36672	1.1	0.37282	D	0.907891	D	0.69078	0.997	P	0.60789	0.879	D	0.86440	0.1766	10	0.13853	T	0.58	.	12.0135	0.53301	0.0:0.0:1.0:0.0	.	319	O00358	FOXE1_HUMAN	Q	319	ENSP00000364265:E319Q	ENSP00000364265:E319Q	E	+	1	0	FOXE1	99656972	1.000000	0.71417	0.532000	0.27989	0.166000	0.22503	5.101000	0.64566	2.544000	0.85801	0.555000	0.69702	GAG		0.751	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1				8	3	0	0	0	0.069234	0	8	3		
C9orf156	51531	broad.mit.edu	37	9	100667150	100667150	+	Missense_Mutation	SNP	G	G	C	rs34857285		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:100667150G>C	ENST00000375119.3	-	5	1267	c.1191C>G	c.(1189-1191)ttC>ttG	p.F397L		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	397					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CAGTAAAGTAGAAAAGGCGGT	0.527																																						uc004axv.1		NaN																	0					0						c.(1189-1191)TTC>TTG		Nef associated protein 1							94.0	89.0	91.0					9																	100667150		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100667150G>C	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.1191C>G	9.37:g.100667150G>C	ENSP00000364260:p.Phe397Leu					C9orf156_uc004axw.1_Missense_Mutation_p.F294L|C9orf156_uc004axx.1_Missense_Mutation_p.F251L	p.F397L	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN			5	1268	-		Acute lymphoblastic leukemia(62;0.158)	397					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.1191C>G	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682399	0.68157	.	.	ENSG00000136932	ENST00000375119;ENST00000375118	T;T	0.49432	0.78;0.78	5.19	2.33	0.28932	Uncharacterised domain UPF0066, YaeB-like domain (1);	0.048602	0.85682	D	0.000000	T	0.64238	0.2580	M	0.78801	2.425	0.47511	D	0.999445	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.64415	-0.6413	10	0.72032	D	0.01	-9.2985	7.8791	0.29612	0.3402:0.0:0.6598:0.0	.	251;397	Q5T114;Q9BU70	.;NAP1_HUMAN	L	397;251	ENSP00000364260:F397L;ENSP00000364259:F251L	ENSP00000364259:F251L	F	-	3	2	C9orf156	99706971	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	0.975000	0.29449	0.702000	0.31825	-0.126000	0.14955	TTC		0.527	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1		NM_016481		72	76	0	0	0	0.139131	0	72	76		
OR13C8	138802	broad.mit.edu	37	9	107332253	107332253	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:107332253G>A	ENST00000335040.1	+	1	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AGCCTCTGTTGATTCAGGTAA	0.453																																						uc011lvo.1		NaN																	0				ovary(1)|skin(1)	2						c.(805-807)GAT>AAT		olfactory receptor, family 13, subfamily C,							110.0	96.0	101.0					9																	107332253		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332253G>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.805G>A	9.37:g.107332253G>A	ENSP00000334068:p.Asp269Asn						p.D269N	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	805	+			269			Extracellular (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.805G>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	1.268	-0.613908	0.03690	.	.	ENSG00000186943	ENST00000335040	T	0.00091	8.74	4.34	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	1.267620	0.05478	N	0.554237	T	0.00144	0.0004	N	0.20328	0.56	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30179	-0.9987	10	0.27082	T	0.32	.	10.5183	0.44903	0.0965:0.0:0.9035:0.0	.	269	Q8NGS7	O13C8_HUMAN	N	269	ENSP00000334068:D269N	ENSP00000334068:D269N	D	+	1	0	OR13C8	106372074	0.007000	0.16637	0.008000	0.14137	0.001000	0.01503	0.939000	0.28978	1.410000	0.46936	0.561000	0.74099	GAT		0.453	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1				39	85	0	0	0	0.086207	0	39	85		
EXD3	54932	broad.mit.edu	37	9	140250821	140250821	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:140250821C>G	ENST00000340951.4	-	8	852		c.e8-1		EXD3_ENST00000342129.4_Splice_Site	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGGTACCGTCTGTGGGGAGA	0.502																																						uc004cmp.2		NaN																	0					0						c.e8-1		exonuclease 3'-5' domain containing 3							25.0	28.0	27.0					9																	140250821		2062	4197	6259	SO:0001630	splice_region_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140250821C>G		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.657-1G>C	9.37:g.140250821C>G						C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Splice_Site|EXD3_uc004cmq.1_Splice_Site|EXD3_uc010ncg.1_Splice_Site_p.R158_splice	p.R219_splice	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN			8	853	-								Q6P1M1|Q8IXT8	Splice_Site	SNP	ENST00000340951.4	37	c.657_splice	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	8.928	0.962791	0.18583	.	.	ENSG00000187609	ENST00000340951	.	.	.	2.07	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2515	0.43372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXD3	139370642	0.223000	0.23663	0.042000	0.18584	0.048000	0.14542	3.246000	0.51414	1.120000	0.41904	0.306000	0.20318	.		0.502	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1		NM_017820	Intron	6	8	0	0	0	0.021553	0	6	8		
NYX	60506	broad.mit.edu	37	X	41333009	41333009	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:41333009C>G	ENST00000342595.2	+	2	759	c.303C>G	c.(301-303)atC>atG	p.I101M	NYX_ENST00000378220.1_Missense_Mutation_p.I101M	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	101			Missing (in CSNB1A). {ECO:0000269|PubMed:11062472}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TGTCCTTCATCACGCCCGGCG	0.716																																						uc004dfh.2		NaN																	0				lung(2)	2						c.(301-303)ATC>ATG		nyctalopin precursor							8.0	7.0	7.0					X																	41333009		1973	3863	5836	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333009C>G	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.303C>G	X.37:g.41333009C>G	ENSP00000340328:p.Ile101Met					NYX_uc011mku.1_Missense_Mutation_p.I96M	p.I101M	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			2	733	+			101		Missing (in CSNB1A).	LRR 2.		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.303C>G	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527180	0.64860	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.65732	-0.17;-0.17	4.97	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.82193	2.58	0.44323	D	0.997204	D	0.89917	1.0	D	0.91635	0.999	T	0.77707	-0.2487	10	0.56958	D	0.05	.	11.1469	0.48436	0.0:0.8419:0.0:0.1581	.	101	Q9GZU5	NYX_HUMAN	M	101	ENSP00000340328:I101M;ENSP00000367465:I101M	ENSP00000340328:I101M	I	+	3	3	NYX	41217953	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.151000	0.50670	0.319000	0.23209	-0.344000	0.07964	ATC		0.716	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1		NM_022567		2	6	0	0	0	0.115264	0	2	6		
CHST7	56548	broad.mit.edu	37	X	46433799	46433799	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:46433799G>A	ENST00000276055.3	+	1	581	c.433G>A	c.(433-435)Gac>Aac	p.D145N		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	145					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						GTATCCGGGCGACGCCGAGAG	0.657																																						uc004dgt.2		NaN																	0				breast(3)	3						c.(433-435)GAC>AAC		chondroitin 6-sulfotransferase 7							37.0	38.0	37.0					X																	46433799		2203	4300	6503	SO:0001583	missense	56548				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity	g.chrX:46433799G>A	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.433G>A	X.37:g.46433799G>A	ENSP00000276055:p.Asp145Asn						p.D145N	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN			1	608	+			145			Lumenal (Potential).		O75667	Missense_Mutation	SNP	ENST00000276055.3	37	c.433G>A	CCDS14268.1	.	.	.	.	.	.	.	.	.	.	g	14.87	2.665645	0.47677	.	.	ENSG00000147119	ENST00000276055	D	0.82893	-1.66	4.6	3.73	0.42828	Sulfotransferase domain (1);	0.063394	0.64402	N	0.000013	T	0.76104	0.3941	L	0.52905	1.665	0.49915	D	0.999835	P	0.37370	0.592	B	0.34385	0.181	T	0.70641	-0.4816	10	0.22706	T	0.39	-16.5975	11.252	0.49031	0.0951:0.0:0.9049:0.0	.	145	Q9NS84	CHST7_HUMAN	N	145	ENSP00000276055:D145N	ENSP00000276055:D145N	D	+	1	0	CHST7	46318743	1.000000	0.71417	0.942000	0.38095	0.967000	0.64934	6.229000	0.72294	0.916000	0.36871	0.509000	0.49947	GAC		0.657	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1		NM_019886		33	16	0	0	0	0.064281	0	33	16		
GNL3L	54552	broad.mit.edu	37	X	54578731	54578731	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:54578731G>C	ENST00000336470.4	+	13	1327	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	GNL3L_ENST00000360845.2_Missense_Mutation_p.K396N	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	396					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCAGCGGGAAGATCAGCTTCT	0.502																																						uc004dth.1		NaN																	0				ovary(1)	1						c.(1186-1188)AAG>AAC		guanine nucleotide binding protein-like 3							179.0	138.0	152.0					X																	54578731		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578731G>C	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1188G>C	X.37:g.54578731G>C	ENSP00000338573:p.Lys396Asn					GNL3L_uc004dti.2_RNA	p.K396N	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			13	1327	+			396						Missense_Mutation	SNP	ENST00000336470.4	37	c.1188G>C	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155593	0.21454	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.26660	1.72;1.72	3.58	0.746	0.18365	GTP-binding protein, orthogonal bundle domain (1);	0.053473	0.64402	D	0.000004	T	0.27731	0.0682	M	0.64567	1.98	0.47819	D	0.999526	P	0.37997	0.614	B	0.43386	0.418	T	0.03945	-1.0990	10	0.66056	D	0.02	-16.4951	6.3938	0.21601	0.3772:0.0:0.6228:0.0	.	396	Q9NVN8	GNL3L_HUMAN	N	396	ENSP00000338573:K396N;ENSP00000354091:K396N	ENSP00000338573:K396N	K	+	3	2	GNL3L	54595456	1.000000	0.71417	0.997000	0.53966	0.011000	0.07611	5.107000	0.64603	0.172000	0.19760	-0.296000	0.09543	AAG		0.502	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1		NM_019067		18	55	0	0	0	0.038395	0	18	55		
UPRT	139596	broad.mit.edu	37	X	74494400	74494400	+	Missense_Mutation	SNP	G	G	A	rs199953225		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:74494400G>A	ENST00000373383.4	+	1	478	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373379.1_Missense_Mutation_p.R104Q|UPRT_ENST00000530743.1_5'Flank	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	104					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GAACTCTCCCGGCAGATCGGG	0.562													G|||	1	0.000264901	0.0	0.0014	3775	,	,		12399	0.0		0.0	False		,,,				2504	0.0					uc004ecb.1		NaN																	0					0						c.(310-312)CGG>CAG		uracil phosphoribosyltransferase (FUR1) homolog							29.0	23.0	25.0					X																	74494400		2203	4300	6503	SO:0001583	missense	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74494400G>A	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.311G>A	X.37:g.74494400G>A	ENSP00000362481:p.Arg104Gln					UPRT_uc010nlu.1_Missense_Mutation_p.R104Q|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.R104Q|UPRT_uc004ece.1_5'Flank	p.R104Q	NM_145052	NP_659489	Q96BW1	UPP_HUMAN			1	440	+			104					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.311G>A	CCDS14429.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.91	3.252195	0.59212	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	.	.	.	5.38	-5.94	0.02247	.	1.611440	0.03727	N	0.252866	T	0.19927	0.0479	N	0.11427	0.14	0.09310	N	0.999993	B;B;B	0.12630	0.006;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.32295	-0.9912	9	0.07644	T	0.81	-10.4338	10.0693	0.42324	0.6637:0.2052:0.1311:0.0	.	104;104;104	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	Q	104	.	ENSP00000362471:R104Q	R	+	2	0	UPRT	74411125	0.001000	0.12720	0.000000	0.03702	0.913000	0.54294	-0.808000	0.04515	-1.156000	0.02818	0.600000	0.82982	CGG		0.562	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1		NM_145052		4	7	0	0	0	0.009096	0	4	7		
C1GALT1C1	29071	broad.mit.edu	37	X	119760538	119760538	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:119760538C>T	ENST00000304661.5	-	2	722	c.484G>A	c.(484-486)Gat>Aat	p.D162N	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.D162N	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	162					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TGTGATGGATCCTTTTTTAAC	0.383																																						uc004esy.2		NaN																	0					0						c.(484-486)GAT>AAT		C1GALT1-specific chaperone 1							74.0	71.0	72.0					X																	119760538		2203	4300	6503	SO:0001583	missense	29071					integral to membrane		g.chrX:119760538C>T	AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.484G>A	X.37:g.119760538C>T	ENSP00000304364:p.Asp162Asn					C1GALT1C1_uc004esz.2_Missense_Mutation_p.D162N	p.D162N	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN			3	831	-			162			Lumenal (Potential).		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	ENST00000304661.5	37	c.484G>A	CCDS14602.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985699	0.35036	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.47528	0.84;0.84	5.13	5.13	0.70059	.	0.046055	0.85682	N	0.000000	T	0.38719	0.1051	L	0.33624	1.015	0.80722	D	1	B	0.16603	0.018	B	0.21360	0.034	T	0.15752	-1.0426	9	.	.	.	-2.2739	16.3578	0.83243	0.0:1.0:0.0:0.0	.	162	Q96EU7	C1GLC_HUMAN	N	162	ENSP00000304364:D162N;ENSP00000360363:D162N	.	D	-	1	0	C1GALT1C1	119644566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.254000	0.74563	0.538000	0.68166	GAT		0.383	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1		NM_152692		27	46	0	0	0	0.116897	0	27	46		
MAGEC2	51438	broad.mit.edu	37	X	141291225	141291225	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:141291225C>G	ENST00000247452.3	-	3	896	c.549G>C	c.(547-549)aaG>aaC	p.K183N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	183	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CACGGGCTCTCTTGAGTATCA	0.483										HNSCC(46;0.14)																												uc004fbu.1		NaN																	0				breast(2)	2						c.(547-549)AAG>AAC		melanoma antigen family C, 2							153.0	148.0	150.0					X																	141291225		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291225C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.549G>C	X.37:g.141291225C>G	ENSP00000354660:p.Lys183Asn	HNSCC(46;0.14)					p.K183N	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	897	-	Acute lymphoblastic leukemia(192;6.56e-05)		183			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.549G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	3.537	-0.094453	0.07053	.	.	ENSG00000046774	ENST00000247452	T	0.05081	3.5	0.97	0.97	0.19692	.	1.932060	0.03691	U	0.247071	T	0.06645	0.0170	L	0.35593	1.075	0.09310	N	1	B	0.21071	0.051	B	0.27500	0.08	T	0.40403	-0.9565	10	0.32370	T	0.25	.	4.9871	0.14196	0.0:1.0:0.0:0.0	.	183	Q9UBF1	MAGC2_HUMAN	N	183	ENSP00000354660:K183N	ENSP00000354660:K183N	K	-	3	2	MAGEC2	141118891	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.377000	0.07456	0.767000	0.33267	0.279000	0.19357	AAG		0.483	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1		NM_016249		112	73	0	0	0	0.139131	0	112	73		
TMLHE	55217	broad.mit.edu	37	X	154736681	154736681	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:154736681G>A	ENST00000334398.3	-	6	1018	c.873C>T	c.(871-873)ctC>ctT	p.L291L	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Silent_p.L291L	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	291					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.L291L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTTTACTGAGGAGTTCAAATT	0.418																																						uc004fnn.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(871-873)CTC>CTT		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						130.0	123.0	125.0					X																	154736681		2203	4300	6503	SO:0001819	synonymous_variant	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154736681G>A	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.873C>T	X.37:g.154736681G>A						TMLHE_uc004fno.2_Silent_p.L291L|TMLHE_uc004fnp.3_Silent_p.L291L	p.L291L	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			6	1039	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		291					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Silent	SNP	ENST00000334398.3	37	c.873C>T	CCDS14768.1																																																																																				0.418	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1		NM_018196		90	48	0	0	0	0.139131	0	90	48		
IQGAP3	128239	broad.mit.edu	37	1	156530742	156530743	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:156530742_156530743insC	ENST00000361170.2	-	11	1122_1123	c.1112_1113insG	c.(1111-1113)ggtfs	p.G371fs		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	371					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCCTGATCACCCTTTGTGTT	0.525																																						uc001fpf.2		NaN																	0				ovary(5)|skin(1)	6						c.(1111-1113)GGTfs		IQ motif containing GTPase activating protein 3																																				SO:0001589	frameshift_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156530742_156530743insC	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1113dupG	1.37:g.156530745_156530745dupC	ENSP00000354451:p.Gly371fs					IQGAP3_uc009wsb.1_Frame_Shift_Ins_p.G328fs	p.G371fs	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			11	1187_1188	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		371					Q5T3H8	Frame_Shift_Ins	INS	ENST00000361170.2	37	c.1112_1113insG	CCDS1144.1																																																																																				0.525	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1		NM_178229		7	113	NaN	NaN	NaN	NaN	NaN	7	113	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						uc001lhk.1		NaN																	0				ovary(2)	2						c.(1174-1176)CTGdel		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_uc001lhj.2_RNA	p.L392del	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1499_1501	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1		NM_198148		7	154	NaN	NaN	NaN	NaN	NaN	7	154	---	---
PCNXL3	399909	broad.mit.edu	37	11	65393419	65393421	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:65393419_65393421delCTT	ENST00000355703.3	+	20	3812_3814	c.3273_3275delCTT	c.(3271-3276)ggcttc>ggc	p.F1093del		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1093						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGCCGTGGGCTTCTTCACACAT	0.606											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oey.2		NaN																	0					0						c.(3271-3276)GGCTTC>GGC		pecanex-like 3																																				SO:0001651	inframe_deletion	399909					integral to membrane		g.chr11:65393419_65393421delCTT	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3273_3275delCTT	11.37:g.65393422_65393424delCTT	ENSP00000347931:p.Phe1093del		OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	PCNXL3_uc009yqn.2_In_Frame_Del_p.F53del|PCNXL3_uc001oez.2_5'Flank	p.F1093del	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			20	3273_3275	+			1093			Helical; (Potential).		Q6MZN8	In_Frame_Del	DEL	ENST00000355703.3	37	c.3273_3275delCTT	CCDS44650.1																																																																																				0.606	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223		9	26	NaN	NaN	NaN	NaN	NaN	9	26	---	---
RB1	5925	broad.mit.edu	37	13	49037882	49037897	+	Frame_Shift_Del	DEL	ATGTATGGCATATGCA	ATGTATGGCATATGCA	-	rs137853296		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08			ATGTATGGCATATGCA	-	ATGTATGGCATATGCA	ATGTATGGCATATGCA		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:49037882_49037897delATGTATGGCATATGCA	ENST00000267163.4	+	21	2260_2275	c.2122_2137delATGTATGGCATATGCA	c.(2122-2139)atgtatggcatatgcaaafs	p.MYGICK708fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	708	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.C712_A727del(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATGTGTTCCATGTATGGCATATGCAAAGTGAAGAA	0.296		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		28	Whole gene deletion(15)|Unknown(10)|Deletion - In frame(3)	p.?(6)|p.I703_E737del(2)|p.C712_A727del(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|ovary(1)|prostate(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM040264|CM981702	RB1	M	rs137853296	c.(2122-2139)ATGTATGGCATATGCAAAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49037882_49037897delATGTATGGCATATGCA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2122_2137delATGTATGGCATATGCA	13.37:g.49037882_49037897delATGTATGGCATATGCA	ENSP00000267163:p.Met708fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.M708fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	21	2288_2303	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	708_713			Pocket; binds T and E1A.|Domain B.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.2122_2137delATGTATGGCATATGCA	CCDS31973.1																																																																																				0.296	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				8	36	NaN	NaN	NaN	NaN	NaN	8	36	---	---
OR4N4	283694	broad.mit.edu	37	15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T	rs376203024		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:22382920_22382921insT	ENST00000328795.4	+	1	539_540	c.448_449insT	c.(448-450)cttfs	p.L150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535																																						uc001yuc.1		NaN																	0				ovary(4)|skin(1)	5						c.(448-450)CTTfs		olfactory receptor, family 4, subfamily N,																																				SO:0001589	frameshift_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382920_22382921insT	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.450dupT	15.37:g.22382922_22382922dupT	ENSP00000332500:p.Leu150fs					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Frame_Shift_Ins_p.L150fs	p.L150fs	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1429_1430	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150			Helical; Name=4; (Potential).		Q6IEY3|Q6IF56	Frame_Shift_Ins	INS	ENST00000328795.4	37	c.448_449insT	CCDS32173.1																																																																																				0.535	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1				23	132	NaN	NaN	NaN	NaN	NaN	23	132	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						uc002oim.2		NaN																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(358-363)CCCTCC>CCC		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_uc002oil.1_In_Frame_Del_p.S128del	p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	363_365	+	all_cancers(60;3.4e-06)		128			Ser-rich.		Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.359_361delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1		XM_351191		7	46	NaN	NaN	NaN	NaN	NaN	7	46	---	---
MMP9	4318	broad.mit.edu	37	20	44639945	44639945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:44639945delC	ENST00000372330.3	+	5	832	c.813delC	c.(811-813)tgcfs	p.C271fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	271	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TTGGCTTCTGCCCCAGCGAGA	0.657																																						uc002xqz.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(811-813)TGCfs		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						41.0	44.0	43.0					20																	44639945		2202	4298	6500	SO:0001589	frameshift_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639945delC		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.813delC	20.37:g.44639945delC	ENSP00000361405:p.Cys271fs						p.C271fs	NM_004994	NP_004985	P14780	MMP9_HUMAN			5	832	+		Myeloproliferative disorder(115;0.0122)	271			Fibronectin type-II 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Frame_Shift_Del	DEL	ENST00000372330.3	37	c.813delC	CCDS13390.1																																																																																				0.657	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1				39	82	NaN	NaN	NaN	NaN	NaN	39	82	---	---
ANXA6	309	broad.mit.edu	37	5	150515861	150515861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:150515861delC	ENST00000354546.5	-	7	672	c.445delG	c.(445-447)gacfs	p.D149fs	ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Frame_Shift_Del_p.D117fs|ANXA6_ENST00000356496.5_Frame_Shift_Del_p.D149fs	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	149					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAGGTGTCGCCGATGATG	0.547																																						uc003ltl.1		NaN																	0					0						c.(445-447)GACfs		annexin VI isoform 1							76.0	78.0	77.0					5																	150515861		1980	4178	6158	SO:0001589	frameshift_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150515861delC	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.445delG	5.37:g.150515861delC	ENSP00000346550:p.Asp149fs					ANXA6_uc011dcp.1_Frame_Shift_Del_p.D117fs|ANXA6_uc003ltm.1_Frame_Shift_Del_p.D149fs|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	p.D149fs	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	597	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	149			Annexin 2.		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Frame_Shift_Del	DEL	ENST00000354546.5	37	c.445delG	CCDS47315.1																																																																																				0.547	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2		NM_001155		27	34	NaN	NaN	NaN	NaN	NaN	27	34	---	---
